RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: lipid metabolism disorder
Accession: DOID:3146
browse the term
Definition: An inherited metabolic disorder that involves the creation and degradation of lipids. (DO)
Synonyms: exact_synonym: fatty acid metabolism disorder; lipid metabolism disorders; lipid metabolism, inborn error; lipid metabolism, inborn errors
primary_id: MESH:D008052 ; MESH:D052439
For additional species annotation, visit the
Alliance of Genome Resources .
G
Abcg5
ATP binding cassette subfamily G member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11138003
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6816881
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoc2
apolipoprotein C2
no_association
ISO
DNA:missense mutation: :p.K19T (human)
RGD
PMID:7923858
RGD:1601206
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Cpt1a
carnitine palmitoyltransferase 1A
ISO
CPT IA deficiency, OMIM:255120, D454G
RGD
PMID:9691089
RGD:1600732
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Cpt2
carnitine palmitoyltransferase 2
ISO
infantile form CPT2 deficiency, OMIM:600649, R631C
RGD
PMID:1528846
RGD:1600742
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18252231
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Decr1
2,4-dienoyl-CoA reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2332510
NCBI chr 5:29,411,172...29,439,054
Ensembl chr 5:29,411,172...29,439,018
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Dhcr24
24-dehydrocholesterol reductase
ISO
desmosterolosis, OMIM:602398, Y471S, N294T, K306N
RGD
PMID:11519011
RGD:1600897
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
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Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17116638
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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Lep
leptin
IEP
protein:increased expression:adipose tissue (rat)
RGD
PMID:30550969
RGD:25330351
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lipc
lipase C, hepatic type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1671786 PMID:1883393 PMID:15292318
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Mvk
mevalonate kinase
ISO
mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T
RGD
PMID:1377680
RGD:1600528
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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Npy5r
neuropeptide Y receptor Y5
susceptibility
ISO
DNA:SNPs: :many
RGD
PMID:17426313
RGD:1625492
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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Ppara
peroxisome proliferator activated receptor alpha
ISO
DNA:missense mutation:cds:p.L162V (human)
RGD
PMID:10828087
RGD:1580230
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17878938
NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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Serac1
serine active site containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22683713
NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
G
Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
ClinVar
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2493025 PMID:2786493 PMID:2843762 PMID:6976525 PMID:7629254 PMID:8345056 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17379008 PMID:19508587 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25697092 PMID:25741868 PMID:26543560 PMID:26770544 PMID:26845730 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29345162 PMID:29595516 PMID:29858860 PMID:32784047 PMID:33753170 More...
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
G
Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
ISO ISS
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM:264300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:27163392 PMID:27898418 PMID:27899157 PMID:28492532 PMID:28739554 PMID:29397602 PMID:30668521 PMID:31614207 PMID:32297288 PMID:33516834 PMID:36154887 PMID:36606580 More...
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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Decr1
2,4-dienoyl-CoA reductase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency
CTD ClinVar
PMID:25526675 PMID:25741868 PMID:28492532
NCBI chr 5:29,411,172...29,439,054
Ensembl chr 5:29,411,172...29,439,018
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Nadk2
NAD kinase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:24847004 PMID:25741868 PMID:27940755 PMID:28492532 PMID:29388319 PMID:33223529 More...
NCBI chr 2:58,117,674...58,159,815
Ensembl chr 2:58,117,674...58,159,808
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Mttp
microsomal triglyceride transfer protein
ISO
DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency DNA:insertion:cds:c.419-420insA (human) DNA:mutations:cds:multiple (human)
CTD ClinVar OMIM RGD
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 PMID:8533758 PMID:8939939 PMID:9536098 PMID:9671739 PMID:10446076 PMID:10679949 PMID:10946006 PMID:12630961 PMID:16199547 PMID:16721486 PMID:17275380 PMID:17576681 PMID:18027103 PMID:18611256 PMID:20592474 PMID:21394827 PMID:22236406 PMID:23043934 PMID:23475612 PMID:24842304 PMID:25108285 PMID:25741868 PMID:27170061 PMID:27271787 PMID:27487388 PMID:27578136 PMID:28492532 PMID:28818680 PMID:30522860 PMID:32041611 PMID:33258201 PMID:8533758 PMID:14741197 PMID:10946006 More...
RGD:1581045 , RGD:1581043 , RGD:1581044
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Acanthocytosis
ClinVar
PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy
ClinVar
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 PMID:8533758 PMID:8939939 PMID:9536098 PMID:9671739 PMID:10446076 PMID:10679949 PMID:10946006 PMID:12630961 PMID:16199547 PMID:16721486 PMID:17275380 PMID:17576681 PMID:18027103 PMID:18611256 PMID:20592474 PMID:21394827 PMID:22236406 PMID:23043934 PMID:23475612 PMID:24842304 PMID:25108285 PMID:25741868 PMID:27170061 PMID:27271787 PMID:27487388 PMID:27578136 PMID:28492532 PMID:28818680 PMID:30522860 PMID:32041611 PMID:33258201 More...
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Acaca
acetyl-CoA carboxylase alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACACA DEFICIENCY | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency
OMIM CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 PMID:4539073 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8185809 PMID:8316254 PMID:9719627 PMID:10486704 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10843183 PMID:10973654 PMID:11196452 PMID:11287026 PMID:12050213 PMID:12050224 PMID:14966389 PMID:15585552 PMID:16648810 PMID:17689071 PMID:18252794 PMID:22343390 PMID:22579964 PMID:24033266 PMID:25526675 PMID:25741868 PMID:26021573 PMID:26288759 PMID:26467025 PMID:27626911 PMID:27796263 PMID:27899157 PMID:28207417 PMID:28492532 PMID:28870780 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31611844 PMID:31950145 PMID:32506065 PMID:34055358 PMID:34628416 More...
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: Refsum disease, adult, 1
ClinVar
PMID:1155634 PMID:2433405 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 PMID:11555634 PMID:11948235 PMID:14974078 PMID:17905308 PMID:18612766 PMID:25525159 PMID:25741868 PMID:28041643 PMID:28470644 PMID:28492532 PMID:28681609 PMID:31240149 PMID:34906470 More...
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Pex7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9536098 PMID:9686382 PMID:10083738 PMID:10527683 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12054588 PMID:12325024 PMID:12522768 PMID:14974078 PMID:16199547 PMID:17325280 PMID:17576681 PMID:20145307 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:22057399 PMID:23352163 PMID:23462609 PMID:23572185 PMID:24172221 PMID:25640679 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:32483926 PMID:34229749 PMID:34671977 More...
NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:16115302
RGD:5686674
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor2
adiponectin receptor 2
treatment
IEP ISO
RGD
PMID:26115886 PMID:18755807 PMID:27220557 PMID:22013387
RGD:25330099 , RGD:25824943 , RGD:25824939 , RGD:25440493
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adra2a
adrenoceptor alpha 2A
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Aldh2
aldehyde dehydrogenase 2 family member
severity treatment susceptibility
IDA ISO
human transgene in mouse model protein:altered processing:liver (mouse) DNA:missense mutation:cds:p.E504K (human)
RGD
PMID:17058263 PMID:25457208 PMID:29156373 PMID:29063269
RGD:1599041 , RGD:15036811 , RGD:15036805 , RGD:14696776
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Arrb2
arrestin, beta 2
ameliorates
ISO
protein:increased expression:hepatocyte
RGD
PMID:33871024 PMID:33871024
RGD:401938594 , RGD:401938594
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Birc3
baculoviral IAP repeat-containing 3
ISO
protein:increased expression:liver (human)
RGD
PMID:29307797
RGD:153297819
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35789393
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:25557254
RGD:14995489
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
treatment
ISO
RGD
PMID:25557254
RGD:14995489
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
disease_progression
ISO
RGD
PMID:27859576
RGD:14401742
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd36
CD36 molecule
ISO
RGD
PMID:24280415
RGD:11041117
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Crp
C-reactive protein
IEP
protein:increased expression:serum:
RGD
PMID:21806828
RGD:9491781
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Ctsb
cathepsin B
IEP
protein:increased activity:liver, cytosol (rat)
RGD
PMID:17850215
RGD:2315516
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Cxcl1
C-X-C motif chemokine ligand 1
ameliorates
ISO
RGD
PMID:33710653
RGD:401976495
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26428356 PMID:25583360 PMID:24064383
RGD:14700884 , RGD:14700870
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Dnmt1
DNA methyltransferase 1
ISO
RGD
PMID:22905112
RGD:9588654
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Fkbp5
FKBP prolyl isomerase 5
ameliorates
ISO
mRNA,protein:incrased expression:liver (human)
RGD
PMID:33710653
RGD:401976495
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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Foxo1
forkhead box O1
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Hamp
hepcidin antimicrobial peptide
IEP
mRNA:decreased expression:liver
RGD
PMID:19253830
RGD:11041633
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Ldlr
low density lipoprotein receptor
IEP
protein:decreased expression: liver (rat)
RGD
PMID:20028367
RGD:21410185
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Mir155
microRNA 155
ISO
RGD
PMID:26867493
RGD:25671474
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Nlrc5
NLR family, CARD domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36708882
NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
treatment
IMP
RGD
PMID:26256083
RGD:11522097
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Pemt
phosphatidylethanolamine N-methyltransferase
IEP
RGD
PMID:17156888
RGD:1642369
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18703563
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Serpine1
serpin family E member 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:25561792
RGD:11075083
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
IEP
protein:decreased expression:liver
RGD
PMID:18996124
RGD:2312349
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19951287
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
IEP
RGD
PMID:11477087
RGD:1625694
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Stat4
signal transducer and activator of transcription 4
IEP
RGD
PMID:18296740
RGD:7207884
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tead1
TEA domain transcription factor 1
ameliorates
ISO
RGD
PMID:33710653
RGD:401976495
NCBI chr 1:166,791,900...167,010,591
Ensembl chr 1:166,792,628...167,003,369
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Tlr4
toll-like receptor 4
severity
ISO
RGD
PMID:29884546 PMID:21463341
RGD:14697697 , RGD:14700554
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
susceptibility treatment
ISO IEP
DNA:SNP:promoter:-238G>A (human)
RGD
PMID:9214463 PMID:20143470
RGD:14995434 , RGD:38508901
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ubd
ubiquitin D
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Agxt2
alanine-glyoxylate aminotransferase 2
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:28492532
NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
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Amacr
alpha-methylacyl-CoA racemase
ISO ISS
OMIM:614307 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
OMIM MouseDO CTD ClinVar
PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:16199547 PMID:17576681 PMID:18032455 PMID:20558530 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:23286897 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 PMID:34440436 More...
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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Brix1
biogenesis of ribosomes BRX1
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:28492532
NCBI chr 2:59,450,608...59,461,486
Ensembl chr 2:59,450,614...59,461,495
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C1qtnf3
C1q and TNF related 3
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:28492532
NCBI chr 2:59,917,099...59,939,519
Ensembl chr 2:59,917,188...59,939,433
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Dnajc21
DnaJ heat shock protein family (Hsp40) member C21
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:28492532
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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Prlr
prolactin receptor
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:28492532
NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
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Rad1
RAD1 checkpoint DNA exonuclease
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:28492532
NCBI chr 2:59,461,597...59,469,707
Ensembl chr 2:59,461,607...59,469,689
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Rai14
retinoic acid induced 14
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:28492532
NCBI chr 2:59,546,284...59,682,687
Ensembl chr 2:59,546,284...59,681,971
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Slc45a2
solute carrier family 45, member 2
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Ttc23l
tetratricopeptide repeat domain 23-like
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:28492532
NCBI chr 2:59,476,666...59,538,313
Ensembl chr 2:59,476,669...59,538,282
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:25741868
NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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Cyp51
cytochrome P450, family 51
ISO
RGD
PMID:21705796
RGD:41412188
NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures DNA:missense mutations:cds:multiple (human)
CTD ClinVar RGD
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9462761 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20489451 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 PMID:10633130 More...
RGD:12801485
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: POR Deficiency
CTD ClinVar
PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:16906539 PMID:18551037 PMID:20188793 PMID:20940534 PMID:21741353 PMID:22162478 PMID:25741868 PMID:27068427 PMID:27496950 PMID:28492532 More...
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9462761 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20489451 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 More...
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency
OMIM CTD ClinVar
PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 PMID:15264278 PMID:15483095 PMID:15793702 PMID:16199547 PMID:16470797 PMID:17576681 PMID:18230729 PMID:18551037 PMID:18559916 PMID:19837910 PMID:20124576 PMID:20188793 PMID:20410220 PMID:20732302 PMID:20940534 PMID:21070833 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22547083 PMID:23878291 PMID:24847272 PMID:25741868 PMID:26670660 PMID:27068427 PMID:28492532 PMID:28841001 PMID:31598952 PMID:31837199 PMID:32242900 PMID:33666875 PMID:33864926 PMID:34009138 More...
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:12884424 PMID:12884434 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15316116 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:20133659 PMID:20301628 PMID:20489451 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25759925 PMID:25867380 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 More...
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Apoa2
apolipoprotein A2
ISO
ClinVar Annotator: match by term: Apolipoprotein A-II deficiency
ClinVar
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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Apoc3
apolipoprotein C3
ISO
ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2022742 PMID:11060345 PMID:19074352 PMID:20097930 PMID:23701270 PMID:24941081 PMID:24941082 PMID:25225788 PMID:25962519 PMID:27114411 PMID:28406212 PMID:28492532 PMID:28825717 PMID:29237685 PMID:30255797 PMID:32041611 PMID:34548093 PMID:36876364 More...
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Apolipoprotein e, deficiency or defect of
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9279208 PMID:9360638 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Apparent mineralocorticoid excess | ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild
OMIM CTD ClinVar
PMID:3860318 PMID:7593417 PMID:7593456 PMID:7608290 PMID:7670488 PMID:9398712 PMID:9683587 PMID:9683905 PMID:9707624 PMID:9851783 PMID:10536001 PMID:11085685 PMID:11114699 PMID:11238516 PMID:12788846 PMID:15126515 PMID:15134813 PMID:15673310 PMID:16778331 PMID:17314322 PMID:19075542 PMID:20571110 PMID:23303402 PMID:24123366 PMID:25526675 PMID:25593612 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33532864 More...
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15521956
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap
prosaposin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency
CTD OMIM ClinVar
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 PMID:9536098 PMID:11309366 PMID:15856305 PMID:16199547 PMID:17576681 PMID:17616409 PMID:17919309 PMID:19267410 PMID:20484222 PMID:24925315 PMID:25741868 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:33219486 PMID:34649574 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Psap
prosaposin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency
CTD OMIM ClinVar
PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 PMID:28492532 PMID:29995202 PMID:30632081 PMID:31069529 PMID:31319425 PMID:31439510 PMID:32180488 PMID:33219486 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Aunip
aurora kinase A and ninein interacting protein
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,722,329...146,734,924
Ensembl chr 5:146,722,337...146,736,501
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Catsper4
cation channel, sperm associated 4
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,427,682...146,447,346
Ensembl chr 5:146,427,683...146,446,942
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Cd52
CD52 molecule
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,319,789...146,321,348
Ensembl chr 5:146,319,969...146,321,348
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Cep85
centrosomal protein 85
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,356,571...146,404,155
Ensembl chr 5:146,356,576...146,404,060
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Cnksr1
connector enhancer of kinase suppressor of Ras 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,447,495...146,458,332
Ensembl chr 5:146,447,497...146,458,212
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Crybg2
crystallin beta-gamma domain containing 2
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,286,406...146,318,417
Ensembl chr 5:146,286,925...146,323,666
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Dhdds
dehydrodolichyl diphosphate synthase subunit
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
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Extl1
exostosin-like glycosyltransferase 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,573,911...146,589,115
Ensembl chr 5:146,573,912...146,589,115
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Fam110d
family with sequence similarity 110, member D
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,471,048...146,474,019
Ensembl chr 5:146,471,049...146,474,056
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Ldlrap1
low density lipoprotein receptor adaptor protein 1
ISO ISS
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 OMIM:603813
OMIM ClinVar MouseDO
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 PMID:12016260 PMID:12464675 PMID:12535754 PMID:12788851 PMID:12958143 PMID:14717060 PMID:15485476 PMID:15599766 PMID:16199547 PMID:17576681 PMID:20124734 PMID:21872251 PMID:22157599 PMID:23510778 PMID:24033266 PMID:24448499 PMID:25647241 PMID:25670367 PMID:25741868 PMID:25911074 PMID:26723464 PMID:27247956 PMID:28353356 PMID:28492532 PMID:28958330 PMID:28964736 PMID:28965616 PMID:29153781 PMID:29245109 PMID:29396260 PMID:30318064 PMID:31589614 PMID:32041611 PMID:32636080 PMID:32770674 PMID:32878475 PMID:33111339 PMID:33116287 PMID:34037665 PMID:34389451 PMID:34756585 PMID:35047021 More...
NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
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Lin28a
lin-28 homolog A
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,227,119...146,244,122
Ensembl chr 5:146,227,119...146,244,122
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Man1c1
mannosidase, alpha, class 1C, member 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421
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Mtfr1l
mitochondrial fission regulator 1-like
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,736,927...146,746,891
Ensembl chr 5:146,736,927...146,746,784
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Pafah2
platelet-activating factor acetylhydrolase 2
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,607,050...146,636,203
Ensembl chr 5:146,613,498...146,634,943
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Paqr7
progestin and adipoQ receptor family member 7
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,709,159...146,720,577
Ensembl chr 5:146,708,900...146,720,673
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Pdik1l
PDLIM1 interacting kinase 1 like
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,495,115...146,507,363
Ensembl chr 5:146,495,115...146,506,835
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Selenon
selenoprotein N
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
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Sh3bgrl3
SH3 domain binding glutamate-rich protein like 3
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,354,152...146,355,525
Ensembl chr 5:146,354,152...146,355,331
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Slc30a2
solute carrier family 30 member 2
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956
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Stmn1
stathmin 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154
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Trim63
tripartite motif containing 63
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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Ubxn11
UBX domain protein 11
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526
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Zfp593
zinc finger protein 593
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,462,670...146,464,998
Ensembl chr 5:146,462,670...146,465,198
G
Zfp683
zinc finger protein 683
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,277,972...146,285,856
Ensembl chr 5:146,278,978...146,285,000
G
Abcd1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
G
Arhgap4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
G
Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
G
Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
G
Avpr2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
G
Bcap31
B-cell receptor-associated protein 31
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
G
Bgn
biglycan
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
G
Brcc3
BRCA1/BRCA2-containing complex subunit 3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
G
Ccnq
cyclin Q
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
G
Clic2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
G
Cmc4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
G
Ctag2
cancer/testis antigen 2
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
G
Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
G
Dnase1l1
deoxyribonuclease 1-like 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
ClinVar
PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11238270 PMID:11748843 PMID:11968085 PMID:14662265 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17576681 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23409742 PMID:23660394 PMID:24033266 PMID:24365856 PMID:24962355 PMID:25652404 PMID:25741868 PMID:26471271 PMID:26845103 PMID:28492532 PMID:29334594 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 More...
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
G
Dusp9
dual specificity phosphatase 9
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
G
Emd
emerin
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
G
F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
G
F8a1
coagulation factor VIII-associated 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
G
Fam3a
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
G
Fam50a
family with sequence similarity 50, member A
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
G
Fkbp1a
FKBP prolyl isomerase 1A
ISS
OMIM:302060
MouseDO
NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
G
Flna
filamin A
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
G
Fundc2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
G
G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
ClinVar
PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15315792 PMID:15996881 PMID:16427346 PMID:16528451 PMID:16601897 PMID:16684786 PMID:18046504 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22293322 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:25741868 PMID:26471271 PMID:27535533 PMID:27880809 PMID:28492532 PMID:28583873 PMID:29300386 PMID:29334594 PMID:30097005 PMID:31609781 PMID:33069889 More...
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Gdi1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
G
H2ab3
H2A.B variant histone 3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
G
Haus7
HAUS augmin-like complex, subunit 7
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
G
Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
G
Idh3g
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
G
Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
G
L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
G
Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
G
Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
G
Mest
mesoderm specific transcript
ISS
OMIM:302060
MouseDO
NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
G
Mpp1
MAGUK p55 scaffold protein 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
G
Mtcp1
mature T-cell proliferation 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr18:126,189...130,123
G
Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
G
Nsdhl
NAD(P) dependent steroid dehydrogenase-like
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
G
Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
G
Pdzd4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
G
Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
G
Plxnb3
plexin B3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
G
Pnck
pregnancy up-regulated nonubiquitous CaM kinase
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
G
Pnma3
PNMA family member 3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
G
Pnma5
PNMA family member 5
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
G
Pnma6e
PNMA family member 6E
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
G
Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
G
Rpl10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
G
Slc10a3
solute carrier family 10, member 3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
G
Slc6a8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
G
Srpk3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
G
Ssr4
signal sequence receptor subunit 4
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
G
Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
ISO ISS
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II OMIM:302060 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345058 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9384614 PMID:9536098 PMID:10480214 PMID:10484795 PMID:11238270 PMID:11735032 PMID:11748843 PMID:11896212 PMID:11968085 PMID:12032589 PMID:12468278 PMID:12529714 PMID:12930833 PMID:14654353 PMID:14662265 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16601897 PMID:16684786 PMID:16873891 PMID:16880272 PMID:16906470 PMID:17241629 PMID:17394203 PMID:17576681 PMID:17846786 PMID:18430085 PMID:19037987 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:19846429 PMID:20530761 PMID:20730588 PMID:20812380 PMID:21300850 PMID:21659346 PMID:21932011 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23345479 PMID:23361305 PMID:23409742 PMID:23606313 PMID:23656970 PMID:23660394 PMID:24033266 PMID:24342716 PMID:24365856 PMID:24813252 PMID:24887148 PMID:24962355 PMID:25112388 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26471271 PMID:26724946 PMID:26845103 PMID:26895103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:28855170 PMID:29077208 PMID:29089047 PMID:29247119 PMID:29334594 PMID:29476731 PMID:30122738 PMID:30471092 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 PMID:31647997 PMID:31737537 PMID:32619718 PMID:33500567 PMID:34906502 PMID:35104856 More...
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
G
Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
G
Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
G
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
G
Trex2
three prime repair exonuclease 2
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
G
Ubl4a
ubiquitin-like 4A
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
G
Vbp1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
G
Zfp185
zinc finger protein 185
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
G
Zfp92
ZFP92 zinc finger protein
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9279208 PMID:9360638 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Cpt1a
carnitine palmitoyltransferase 1A
ISO ISS
OMIM:255120 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
OMIM MouseDO CTD ClinVar
PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 PMID:11441142 PMID:12111367 PMID:12189492 PMID:12351641 PMID:14517221 PMID:15110323 PMID:16146704 PMID:16169268 PMID:16199547 PMID:16958601 PMID:17576681 PMID:19181627 PMID:19217814 PMID:19345525 PMID:20301700 PMID:20696606 PMID:21253826 PMID:21763168 PMID:21962599 PMID:23090344 PMID:23430491 PMID:23700290 PMID:24033266 PMID:24847810 PMID:25449608 PMID:25640679 PMID:25741868 PMID:26010953 PMID:26820065 PMID:27066452 PMID:27341449 PMID:28125087 PMID:28468868 PMID:28492532 PMID:29519241 PMID:30101502 PMID:31319225 PMID:32088118 PMID:32561900 PMID:32781271 PMID:33845545 PMID:34131458 PMID:35360862 More...
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
G
Cpt2
carnitine palmitoyltransferase 2
ISO
ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: Carnitine palmitoyltransferase deficiency type 2
ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9536098 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12200419 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:12809643 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16199547 PMID:16225172 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17576681 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19239046 PMID:19762733 PMID:19763152 PMID:20301431 PMID:20307669 PMID:20543534 PMID:20661589 PMID:20810031 PMID:20830526 PMID:20934285 PMID:20952238 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22406018 PMID:22494076 PMID:22652984 PMID:22841441 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23475205 PMID:23700290 PMID:23757202 PMID:23911907 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26010953 PMID:26467025 PMID:26477380 PMID:26537576 PMID:26636822 PMID:27067077 PMID:27123472 PMID:27525900 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28074886 PMID:28492532 PMID:28516040 PMID:28529889 PMID:28600779 PMID:28649538 PMID:28779239 PMID:28801073 PMID:28871440 PMID:29429925 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30293990 PMID:30455135 PMID:30609409 PMID:30881520 PMID:30912279 PMID:30957255 PMID:31372341 PMID:31501239 PMID:31517061 PMID:31770251 PMID:32295037 PMID:32411386 PMID:32489884 PMID:32528171 PMID:33123633 PMID:33532864 PMID:34063237 More...
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
G
Czib
CXXC motif containing zinc binding protein
ISO
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency
ClinVar
NCBI chr 5:122,648,333...122,657,767
Ensembl chr 5:122,648,411...122,656,910
G
Slc22a5
solute carrier family 22 member 5
ISO
ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency
ClinVar
PMID:2199596 PMID:2235122 PMID:3215194 PMID:9536098 PMID:9916797 PMID:10051646 PMID:10480371 PMID:11715001 PMID:12210323 PMID:14605509 PMID:15714519 PMID:16199547 PMID:16652335 PMID:16830263 PMID:17576681 PMID:17703373 PMID:18337137 PMID:20027113 PMID:20074989 PMID:20208395 PMID:20574985 PMID:21126579 PMID:21864509 PMID:21922592 PMID:23430858 PMID:23520115 PMID:23653224 PMID:23757202 PMID:23798014 PMID:23963628 PMID:24746540 PMID:24997454 PMID:25132046 PMID:25224063 PMID:25741868 PMID:26190315 PMID:26828774 PMID:27896095 PMID:28166811 PMID:28492532 PMID:28711408 PMID:28841266 PMID:30863740 PMID:31364285 PMID:32371215 PMID:33181153 PMID:33560599 PMID:34178604 PMID:34394177 PMID:34637945 PMID:35095998 PMID:36343260 More...
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
G
Cpt2
carnitine palmitoyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
CTD ClinVar OMIM
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9536098 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16199547 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17576681 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19239046 PMID:19762733 PMID:20301431 PMID:20543534 PMID:20661589 PMID:20810031 PMID:20830526 PMID:20934285 PMID:20952238 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22841441 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:23911907 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:26537576 PMID:26636822 PMID:27067077 PMID:27123472 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28074886 PMID:28492532 PMID:28516040 PMID:28529889 PMID:28600779 PMID:28779239 PMID:28801073 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30293990 PMID:30455135 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31770251 PMID:32295037 PMID:32489884 PMID:32528171 PMID:33123633 More...
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Cpt2
carnitine palmitoyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
CTD ClinVar OMIM
PMID:736528 PMID:835844 PMID:1528846 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10734268 PMID:10862092 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20810031 PMID:20830526 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:23911907 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27525900 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31501239 PMID:32295037 PMID:32411386 PMID:32528171 PMID:33123633 PMID:33532864 PMID:34063237 More...
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Slc25a20
solute carrier family 25 member 20
ISO
ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1598097 PMID:5365988 PMID:9399886 PMID:9536098 PMID:9686371 PMID:10384384 PMID:10697964 PMID:10709662 PMID:11162577 PMID:11350184 PMID:11592821 PMID:12559850 PMID:12801121 PMID:12859414 PMID:15057979 PMID:15365988 PMID:16199547 PMID:16919490 PMID:17277394 PMID:17576681 PMID:21605995 PMID:22020112 PMID:24088670 PMID:25032985 PMID:25459972 PMID:25614308 PMID:25741868 PMID:26238931 PMID:27066551 PMID:28492532 PMID:29425111 PMID:31319225 PMID:31561269 PMID:31589614 PMID:32337051 PMID:32340404 PMID:33634872 PMID:34626609 PMID:35360862 More...
NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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Aamp
angio-associated, migratory cell protein
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Ankzf1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469
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Arpc2
actin related protein 2/3 complex, subunit 2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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Asic4
acid sensing ion channel subunit family member 4
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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Cdk5r2
cyclin-dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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Chpf
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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Cryba2
crystallin, beta A2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
OMIM:213700, R446C, R362C ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis | ClinVar Annotator: match by term: Cholestanol storage disease CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:2019602 PMID:7697869 PMID:7860076 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8309576 PMID:8514861 PMID:8730343 PMID:8827518 PMID:8931710 PMID:8950197 PMID:9008528 PMID:9186905 PMID:9254865 PMID:9392430 PMID:9521761 PMID:9536098 PMID:9548584 PMID:9654207 PMID:9790667 PMID:10206677 PMID:10406988 PMID:10430841 PMID:10519880 PMID:10741487 PMID:10775536 PMID:11181744 PMID:11313766 PMID:11737215 PMID:11903362 PMID:12000359 PMID:12117727 PMID:12270007 PMID:12555943 PMID:12933951 PMID:14741198 PMID:14999499 PMID:15795599 PMID:16157755 PMID:16199547 PMID:16278884 PMID:16372260 PMID:16816916 PMID:17030721 PMID:17319284 PMID:17444890 PMID:17576681 PMID:17697869 PMID:18227423 PMID:18414213 PMID:19092443 PMID:19204079 PMID:19373932 PMID:19801147 PMID:20301583 PMID:20402754 PMID:20450308 PMID:20558929 PMID:20602799 PMID:20925952 PMID:20981092 PMID:21073839 PMID:21228398 PMID:21345536 PMID:21404287 PMID:21553098 PMID:21627786 PMID:21645175 PMID:21764626 PMID:21955034 PMID:21958693 PMID:21966169 PMID:22197981 PMID:22336472 PMID:22849591 PMID:22878431 PMID:23212406 PMID:23287330 PMID:23659550 PMID:24002088 PMID:24033266 PMID:24080357 PMID:24174808 PMID:24584636 PMID:24627108 PMID:24746394 PMID:25112387 PMID:25447658 PMID:25525159 PMID:25558065 PMID:25741868 PMID:25862734 PMID:25941960 PMID:25983621 PMID:26156051 PMID:26206375 PMID:26467025 PMID:26519892 PMID:26622071 PMID:26643207 PMID:26861945 PMID:26906304 PMID:26937392 PMID:27084087 PMID:27142713 PMID:27225395 PMID:27455001 PMID:27535533 PMID:27678445 PMID:27680221 PMID:27858369 PMID:27878435 PMID:27879219 PMID:27884173 PMID:28229379 PMID:28324197 PMID:28337550 PMID:28492532 PMID:28590052 PMID:28623566 PMID:28749476 PMID:28894950 PMID:28937538 PMID:29095540 PMID:29242796 PMID:29260356 PMID:29269672 PMID:29321515 PMID:29434128 PMID:30366773 PMID:31384146 PMID:31450232 PMID:31743419 PMID:31796091 PMID:32523054 PMID:32581172 PMID:32714376 PMID:32793533 PMID:33020668 PMID:33313117 PMID:33400472 PMID:33414089 PMID:33624863 PMID:33659184 PMID:33830582 PMID:33977023 PMID:34012265 PMID:34103343 PMID:34145886 PMID:34234304 PMID:34689324 PMID:34930075 PMID:35949830 PMID:36628393 PMID:2019602 More...
RGD:1600872
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Des
desmin
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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Gpbar1
G protein-coupled bile acid receptor 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Mir26b
microRNA 26b
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir375
microRNA 375
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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Pnkd
PNKD metallo-beta-lactamase domain containing
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532
NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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Prrt2
proline-rich transmembrane protein 2
ISO
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar
PMID:25741868 PMID:28492532 PMID:28590052
NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc23a3
solute carrier family 23, member 3
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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Tmem198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532
NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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Zfp142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar
PMID:28492532
NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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Abhd5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
ISO ISS
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis OMIM:275630 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 More...
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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Ano10
anoctamin 10
ISO
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar
PMID:11590543 PMID:25741868 PMID:28492532
NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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Cdhr5
cadherin-related family member 5
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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Cend1
cell cycle exit and neuronal differentiation 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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Deaf1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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Drd4
dopamine receptor D4
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Eps8l2
EPS8-like 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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Gatd1
glutamine amidotransferase class 1 domain containing 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Irf7
interferon regulatory factor 7
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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Lmntd2
lamin tail domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mir210
microRNA 210
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Phrf1
PHD and ring finger domains 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
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Pidd1
p53-induced death domain protein 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar
PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 PMID:20370797 PMID:21170305 PMID:21544567 PMID:22832386 PMID:22990388 PMID:23232698 PMID:25287355 PMID:25741868 PMID:26922712 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 PMID:32041611 PMID:35460704 More...
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Rassf7
Ras association domain family member 7
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
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Rplp2
ribosomal protein lateral stalk subunit P2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
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Sct
secretin
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
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Slc25a22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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Taldo1
transaldolase 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
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Tmem80
transmembrane protein 80
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
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Ndrg1
N-myc downstream regulated 1
ISO ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM:601455 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 PMID:17470135 PMID:17576681 PMID:20301641 PMID:20582309 PMID:21892769 PMID:23393557 PMID:23996628 PMID:24136616 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28454995 PMID:28492532 PMID:30311386 PMID:31673878 PMID:32376792 More...
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: Cholesteryl ester storage disease CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:24295952 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29958253 PMID:30684275 PMID:31182375 PMID:31230978 PMID:31392116 PMID:6097111 More...
RGD:1600621
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Tspo
translocator protein
IMP
RGD
PMID:29074640
RGD:150429771
NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
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Tspoem1Vpl
translocator protein; ZFN induced mutant1, Vpl
IMP
RGD
PMID:29074640
RGD:150429771
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Tspoem2Vpl
translocator protein; ZFN induced mutant2, Vpl
IMP
RGD
PMID:29074640
RGD:150429771
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Dcdc2
doublecortin domain containing 2
ISO
ClinVar Annotator: match by term: Chylomicron retention disease
ClinVar
PMID:25741868 PMID:27469900
NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
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Pitpna
phosphatidylinositol transfer protein, alpha
ISS
OMIM:246700
MouseDO
NCBI chr10:60,430,712...60,473,564
Ensembl chr10:60,430,748...60,471,342
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Sar1b
secretion associated, Ras related GTPase 1B
ISO ISS
OMIM:246700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells
OMIM MouseDO CTD ClinVar
PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:36,024,415...36,054,069
Ensembl chr10:36,024,382...36,054,066
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Nsdhl
NAD(P) dependent steroid dehydrogenase-like
ISO
ClinVar Annotator: match by term: CK syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Chst3
carbohydrate sulfotransferase 3
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807
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Psap
prosaposin
ISO ISS
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency OMIM:611721 CTD Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25640679 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26822237 PMID:26831127 PMID:28457694 PMID:28492532 PMID:30037697 PMID:30632081 PMID:31319425 PMID:32180488 PMID:33219486 PMID:33402667 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Spock2
SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr20:28,037,334...28,064,272
Ensembl chr20:28,033,475...28,064,272
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Vsir
V-set immunoregulatory receptor
ISO
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
PMID:28492532
NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
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Avpr1a
arginine vasopressin receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Avpr2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
DNA:splice-site mutation
RGD
PMID:12161514
RGD:1599693
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human) DNA:frameshift mutation:cds:p.394fsX469 (human)
RGD
PMID:8964882 PMID:1430088
RGD:1600799 , RGD:734864
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:3295546 PMID:8506298 PMID:8964882 PMID:9302260 PMID:9536098 PMID:9546661 PMID:11095433 PMID:12452430 PMID:15026188 PMID:15062555 PMID:16046588 PMID:16199547 PMID:16670167 PMID:17371482 PMID:17576681 PMID:19204079 PMID:19844114 PMID:20089618 PMID:22333028 PMID:22964742 PMID:23940125 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26467025 PMID:26476331 PMID:26806323 PMID:26956189 PMID:27316665 PMID:28228528 PMID:28492532 PMID:28514642 PMID:29626607 PMID:29858860 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:32850530 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 More...
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 PMID:8396144 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11549685 PMID:12466376 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15771555 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17379008 PMID:18645707 PMID:19636199 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24498484 PMID:25741868 PMID:26543560 PMID:28008861 PMID:28492532 PMID:29595516 PMID:31636948 PMID:33516834 PMID:33864926 PMID:34524979 PMID:35729303 PMID:35990289 PMID:2026124 More...
RGD:4889141
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp21a1
cytochrome P450, family 21, subfamily a, polypeptide 1
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:12930931
RGD:4889127
NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD ClinVar
PMID:7626445 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8316254 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10973654 PMID:11196452 PMID:12050213 PMID:12050224 PMID:15585552 PMID:18252794 PMID:21340167 PMID:22579964 PMID:24033266 PMID:25211449 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31950145 PMID:34055358 PMID:34628416 More...
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Htr4
5-hydroxytryptamine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
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Pde8b
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18272904
NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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Por
cytochrome p450 oxidoreductase
ISO
DNA:missense mutations:cds:p.A287P, p.H628P (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:16199547 PMID:17635179 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20410220 PMID:20732302 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22462747 PMID:23365120 PMID:23878291 PMID:25741868 PMID:27068427 PMID:28492532 PMID:31598952 PMID:33864926 PMID:34009138 PMID:17505056 More...
RGD:4889128
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15521956
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Ren
renin
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31505456
RGD:125097501
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Star
steroidogenic acute regulatory protein
susceptibility
ISO ISS
DNA:transversion:intron:g.IVS4-11T>A (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar MouseDO RGD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21846663 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 PMID:8634702 PMID:9326645 More...
RGD:1600070 , RGD:4145592
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9378109 PMID:10408786 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14715874 PMID:15858147 PMID:17164306 PMID:19773403 PMID:20301350 PMID:21532487 PMID:23269230 PMID:23359698 PMID:23769969 PMID:24033266 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25741868 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28819757 PMID:29386111 PMID:29715434 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 PMID:8004113 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9536098 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12452430 PMID:12966519 PMID:14682466 PMID:15026188 PMID:15062555 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16199547 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17124386 PMID:17296872 PMID:17371482 PMID:17576681 PMID:17692261 PMID:17726333 PMID:18204274 PMID:18663314 PMID:19204079 PMID:19820005 PMID:19844114 PMID:20024693 PMID:20089618 PMID:20331679 PMID:20529578 PMID:20947076 PMID:22333028 PMID:22465514 PMID:22964742 PMID:23345044 PMID:23940125 PMID:23940126 PMID:24022297 PMID:24033266 PMID:24334966 PMID:24536089 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26066897 PMID:26265915 PMID:26280318 PMID:26300845 PMID:26467025 PMID:26476331 PMID:26525354 PMID:26806323 PMID:26956189 PMID:27316665 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28514642 PMID:28962970 PMID:29626607 PMID:29858860 PMID:29909741 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:32850530 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 More...
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:25741868
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
protein:decreased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:increased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Kcnh2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: CYP21 deficiency
ClinVar
PMID:10973849 PMID:12566525 PMID:14714110 PMID:15840476 PMID:19324319 PMID:19716085 PMID:19841300 PMID:19862833 PMID:21185501 PMID:22515331 PMID:25741868 PMID:28492532 More...
NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 PMID:28492532 PMID:33666875 More...
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9099839 PMID:9187661 PMID:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID:19505723 PMID:19773403 PMID:20301350 PMID:21134444 PMID:21169732 PMID:21228398 PMID:21329531 PMID:21532487 PMID:21534945 PMID:22841790 PMID:23166432 PMID:23241443 PMID:23269230 PMID:23359698 PMID:23359706 PMID:23769969 PMID:24033266 PMID:24077358 PMID:24904866 PMID:25227725 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25630015 PMID:25741868 PMID:26206692 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28741757 PMID:28819757 PMID:29386111 PMID:29715434 PMID:29996815 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32838438 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33604243 PMID:33710594 PMID:33715135 PMID:34540367 PMID:37011374 More...
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1515452 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 PMID:8245018 PMID:8287576 PMID:8345056 PMID:8396144 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9888582 PMID:9892022 PMID:10455016 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11422109 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15771555 PMID:15844475 PMID:16121340 PMID:16199547 PMID:16477341 PMID:16483711 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17379008 PMID:18422032 PMID:19454579 PMID:19470621 PMID:19508587 PMID:19636199 PMID:19728179 PMID:19793597 PMID:20170344 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21822006 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22266943 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:24593890 PMID:25697092 PMID:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28130116 PMID:28492532 PMID:28870780 PMID:29278670 PMID:29345162 PMID:29595516 PMID:29858860 PMID:30002216 PMID:30229581 PMID:31636948 PMID:32215889 PMID:32784047 PMID:33516834 PMID:33753170 PMID:33864926 PMID:34097983 PMID:34524979 PMID:34829455 PMID:35729303 PMID:35990289 More...
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Akr1d1
aldo-keto reductase family 1, member D1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect
ClinVar
NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition
OMIM CTD ClinVar
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 PMID:28492532 More...
NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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Akr1d1
aldo-keto reductase family 1, member D1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 PMID:19175828 PMID:20522910 PMID:21185810 PMID:23679950 PMID:25304492 PMID:25741868 PMID:28492532 PMID:30809085 PMID:31450232 More...
NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1943942 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21541746 PMID:21567895 PMID:21623769 PMID:22384504 PMID:23812641 PMID:24117163 PMID:24641183 PMID:24927729 PMID:25741868 PMID:26467025 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29228183 PMID:29980238 More...
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Amacr
alpha-methylacyl-CoA racemase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
OMIM CTD ClinVar
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25741868 PMID:28492532 PMID:30369941 More...
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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Slc45a2
solute carrier family 45, member 2
ISO
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Abcd3
ATP binding cassette subfamily D member 3
ISO ISS
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 CTD Direct Evidence: marker/mechanism OMIM:616278
OMIM ClinVar CTD MouseDO
PMID:25168382 PMID:25741868 PMID:28492532
NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020
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Acox2
acyl-CoA oxidase 2
ISO
ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:25741868 PMID:27647924 PMID:27884763 PMID:28492532 PMID:35395098 PMID:35775617 More...
NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO
ClinVar Annotator: match by term: Congenital generalized lipodystrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:19226263 PMID:24498038 PMID:25741868 PMID:19187773
RGD:10047097
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Berardinelli syndrome | ClinVar Annotator: match by term: Berardinelli-Seip congenital lipodystrophy | ClinVar Annotator: match by term: Congenital generalized lipodystrophy
CTD ClinVar
PMID:1674639 PMID:5964029 PMID:11479539 PMID:12030893 PMID:12362029 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15181077 PMID:15732094 PMID:16427281 PMID:16574104 PMID:16735770 PMID:17387721 PMID:17486577 PMID:17535271 PMID:17663003 PMID:18057387 PMID:18093937 PMID:18585921 PMID:18690553 PMID:18790819 PMID:19041432 PMID:19226263 PMID:19396477 PMID:19438831 PMID:19762912 PMID:20301391 PMID:20598714 PMID:20806400 PMID:21126715 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:23564749 PMID:23659685 PMID:23989774 PMID:24345054 PMID:24451228 PMID:24604904 PMID:24778225 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26072926 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27452399 PMID:27549087 PMID:27612026 PMID:27632409 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:28916377 PMID:29478747 PMID:30903322 PMID:31372974 PMID:31475473 PMID:31770241 PMID:32320108 PMID:32792356 More...
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO ISS
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 OMIM:608594
OMIM ClinVar MouseDO
PMID:11967537 PMID:12765973 PMID:14557463 PMID:14715872 PMID:15181077 PMID:15629135 PMID:18414213 PMID:18640396 PMID:19026526 PMID:21744063 PMID:22831748 PMID:24498038 PMID:25195639 PMID:25741868 PMID:26072926 PMID:26336158 PMID:27144933 PMID:28492532 PMID:30319454 PMID:31416577 PMID:31778856 PMID:32041611 PMID:32117065 PMID:32280377 PMID:34318892 More...
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO ISS
ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 OMIM:269700
OMIM ClinVar MouseDO
PMID:9536098 PMID:11479539 PMID:11916958 PMID:12030893 PMID:12362029 PMID:14557463 PMID:15126564 PMID:15181077 PMID:16735770 PMID:17535271 PMID:17576681 PMID:17663003 PMID:18057387 PMID:18093937 PMID:18690553 PMID:19041432 PMID:19226263 PMID:19438831 PMID:19762912 PMID:20301391 PMID:21126715 PMID:23142943 PMID:23564749 PMID:23659685 PMID:23963299 PMID:23989774 PMID:24778225 PMID:25588603 PMID:25741868 PMID:26072926 PMID:26467025 PMID:27144933 PMID:27452399 PMID:27612026 PMID:27632409 PMID:28492532 PMID:28916377 PMID:29478747 PMID:30903322 PMID:31770241 PMID:32041611 PMID:32792356 More...
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Gng3
G protein subunit gamma 3
ISO
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2
ClinVar
PMID:25741868
NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603
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Pparg
peroxisome proliferator-activated receptor gamma
ISS
OMIM:269700
MouseDO
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3
OMIM CTD ClinVar
PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 PMID:28492532 PMID:29231014 PMID:31727138 PMID:33264630 PMID:34643546 More...
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cavin1
caveolae associated protein 1
ISO ISS
OMIM:613327 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4
OMIM MouseDO CTD ClinVar
PMID:12116229 PMID:18698612 PMID:19726876 PMID:20300641 PMID:20684003 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31778856 More...
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Pcyt1a
phosphate cytidylyltransferase 1A, choline
ISO
OMIM
NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357
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Adk
adenosine kinase
ISO
RGD
PMID:11997462
RGD:1300259
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
DNA:point mutation:CDS:p.R453Q (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12858176
RGD:1625067
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
DNA:insertion,transversion:intron:86557insA, 83597T>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25526675 PMID:12858176
RGD:1625067
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
ClinVar Annotator: match by term: Cortisone reductase deficiency 1
OMIM ClinVar
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 PMID:16356929 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532 More...
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO ISS
OMIM:614662 ClinVar Annotator: match by term: Cortisone reductase deficiency 2
OMIM MouseDO ClinVar
PMID:21325058 PMID:25741868
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
OMIM ClinVar
PMID:9360545 PMID:9536098 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15264278 PMID:15350602 PMID:15483095 PMID:15793702 PMID:16199547 PMID:16467261 PMID:16470797 PMID:17576681 PMID:17635179 PMID:17827787 PMID:18230729 PMID:18433346 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20124576 PMID:20188793 PMID:20732302 PMID:20940534 PMID:21070833 PMID:21084761 PMID:21741353 PMID:21843508 PMID:22162478 PMID:22252407 PMID:22462747 PMID:22547083 PMID:22719896 PMID:23353702 PMID:23365120 PMID:23878291 PMID:24847272 PMID:25294558 PMID:25712184 PMID:25741868 PMID:26670660 PMID:27068427 PMID:27376429 PMID:28492532 PMID:28841001 PMID:29168297 PMID:31598952 PMID:31669572 PMID:32242900 PMID:33666875 PMID:34009138 More...
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Tmem120a
transmembrane protein 120A
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
ClinVar
NCBI chr12:20,942,243...20,950,908
Ensembl chr12:20,942,439...20,990,316
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Acat2
acetyl-CoA acetyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency
OMIM CTD ClinVar
PMID:25741868
NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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Brat1
BRCA1-associated ATM activator 1
ISO
ClinVar Annotator: match by term: DBP deficiency
ClinVar
PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532
NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: DBP deficiency
ClinVar
PMID:10338095 PMID:15986423 PMID:16385454 PMID:16941474 PMID:17309651 PMID:18524657 PMID:21637542 PMID:24156116 PMID:25741868 PMID:25936995 PMID:28492532 PMID:31761138 More...
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
severity
ISO ISS
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency OMIM:261515 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
ClinVar MouseDO CTD OMIM RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:20681997 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25954003 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27618451 PMID:27790638 PMID:28017249 PMID:28490743 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32042923 PMID:33510602 PMID:33539324 PMID:34440436 PMID:34623748 PMID:34645488 PMID:34660840 PMID:34719423 PMID:9345094 PMID:16385454 More...
RGD:1599968 , RGD:10411884
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Dhcr24
24-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Desmosterolosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11519011 PMID:16410790 PMID:21559050 PMID:21671375 PMID:21902244 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28518168 PMID:32461654 More...
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
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Arv1
ARV1 homolog, fatty acid homeostasis modulator
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38
OMIM CTD ClinVar
PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008
NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156
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Pigp
phosphatidylinositol glycan anchor biosynthesis, class P
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55
OMIM ClinVar
PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915
NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321
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Ccpg1
cell cycle progression 1
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80
ClinVar
PMID:25741868 PMID:28492532 PMID:31256876
NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
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Pigb
phosphatidylinositol glycan anchor biosynthesis, class B
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80
OMIM ClinVar
PMID:16199547 PMID:17343268 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31256876 PMID:34400385 More...
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
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Pigs
phosphatidylinositol glycan anchor biosynthesis, class S
ISO
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18
OMIM ClinVar
PMID:25741868 PMID:30269814 PMID:33410539
NCBI chr10:63,222,611...63,237,190
Ensembl chr10:63,222,572...63,237,187
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Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Dysbetalipoproteinemia due to defect in apolipoprotein e-d
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9279208 PMID:9360638 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Abcg5
ATP binding cassette subfamily G member 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyslipidemia
CTD ClinVar
PMID:19060911
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Acadm
acyl-CoA dehydrogenase medium chain
ISO
ClinVar Annotator: match by term: Dyslipidemia
ClinVar
PMID:1361190 PMID:1447668 PMID:1570195 PMID:1601002 PMID:1671131 PMID:1678810 PMID:1679031 PMID:1684086 PMID:1756601 PMID:1902818 PMID:1972503 PMID:2046713 PMID:2251268 PMID:2393404 PMID:2394825 PMID:3786030 PMID:6434827 PMID:7720752 PMID:7730333 PMID:7904584 PMID:8104486 PMID:9158144 PMID:9797589 PMID:11263545 PMID:11346377 PMID:11349232 PMID:11486912 PMID:15171998 PMID:15832312 PMID:16121256 PMID:16291504 PMID:16617240 PMID:16737882 PMID:16763904 PMID:18241067 PMID:19224950 PMID:20036593 PMID:20301597 PMID:20434380 PMID:21228398 PMID:22630369 PMID:23028790 PMID:23509891 PMID:23574375 PMID:24033266 PMID:24718418 PMID:24966162 PMID:25087612 PMID:25333063 PMID:25741868 PMID:25940036 PMID:26223887 PMID:26467025 PMID:26947917 PMID:27976856 PMID:28492532 PMID:33580884 PMID:35281663 More...
NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21890736
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Angptl4
angiopoietin-like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322881
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18230960
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyslipidemia
CTD ClinVar
PMID:25037058 PMID:32853627 PMID:34862716
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Atp7b
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303181
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Bcl3
BCL3, transcription coactivator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29670124
NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:SNP:CDS:c636G>A|c.681G>A, rs4986893|rs4244285 (human)
RGD
PMID:36601065
RGD:401850588
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Dnah11
dynein, axonemal, heavy chain 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19060911
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Isl1
ISL LIM homeobox 1
treatment
ISO IEP
RGD
PMID:32277945 PMID:32277945
RGD:243049251 , RGD:243049251
NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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Klf14
KLF transcription factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29632379
NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
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Ldlr
low density lipoprotein receptor
IMP ISO
ClinVar Annotator: match by term: Dyslipidemia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:20530721 PMID:36108984 PMID:27378433
RGD:12910104
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Ldlrem1
low density lipoprotein receptor; ZFN induced mutant 1
IMP
RGD
PMID:27378433
RGD:12910104
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Lep
leptin
IEP
protein:altered expression: serum (rat)
RGD
PMID:29089335
RGD:21410183
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20567778 PMID:29988851 PMID:26537785
RGD:12911216
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprem4Lizh
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh
IMP
RGD
PMID:26537785
RGD:12911216
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Lipc
lipase C, hepatic type
ISO
ClinVar Annotator: match by term: Dyslipidemia
ClinVar
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952847
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Maco1
macoilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19060911
NCBI chr 5:147,012,416...147,075,265
Ensembl chr 5:147,012,867...147,075,001
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Mir222
microRNA 222
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34862716
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Nadsyn1
NAD synthetase 1
susceptibility
ISO
DNA:SNP: :rs12785878 G>T(human)
RGD
PMID:24073860
RGD:13703112
NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29670124
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Nr5a2
nuclear receptor subfamily 5, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29515023
NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
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Pex11a
peroxisomal biogenesis factor 11 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30585412
NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172
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Pltp
phospholipid transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952847
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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Pml
PML nuclear body scaffold
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16168052
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16168052
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Rara
retinoic acid receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32929351
NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142
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Rbp4
retinol binding protein 4
disease_progression
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:22426023
RGD:329853319
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Tlr2
toll-like receptor 2
IGI
RGD
PMID:23295061
RGD:7241091
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tomm40
translocase of outer mitochondrial membrane 40
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29670124
NCBI chr 1:79,358,781...79,370,882
Ensembl chr 1:79,358,786...79,370,915
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Vnn1
vanin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17873875
NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis
OMIM CTD ClinVar
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:28492532 PMID:33448156 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis
ClinVar
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8456858 PMID:12460918 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20147967 PMID:20570890 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20978259 PMID:21063026 PMID:21079152 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22734028 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23255105 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:24740626 PMID:24836576 PMID:25044103 PMID:25157968 PMID:25251940 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26110767 PMID:26619011 PMID:26623049 PMID:26970110 PMID:28492532 PMID:29298116 PMID:30289595 PMID:30443000 PMID:30448735 PMID:30891959 PMID:31891627 PMID:32934698 More...
NCBI chr 4:178,185,418...178,218,484
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Ace
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:20941593
RGD:12879402
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agt
angiotensinogen
severity
ISO
DNA:polymorphism:promoter:
RGD
PMID:24020479
RGD:13432161
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Ar
androgen receptor
treatment
ISO
RGD
PMID:25701874
RGD:11576234
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:28492532
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:28492532
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
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Gla
galactosidase, alpha
ISO IMP ISS
DNA:point mutation:exon:R356W ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease compared to wild type OMIM:301500 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 PMID:1677356 PMID:1753437 PMID:1846223 PMID:2152885 PMID:2160973 PMID:2171331 PMID:2393552 PMID:2539398 PMID:2744760 PMID:2836863 PMID:6379599 PMID:7504405 PMID:7531540 PMID:7575533 PMID:7596372 PMID:7599642 PMID:7759078 PMID:7911050 PMID:7951217 PMID:8012363 PMID:8069316 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8768754 PMID:8807334 PMID:8834244 PMID:8863162 PMID:8875188 PMID:8878432 PMID:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9268104 PMID:9395081 PMID:9452068 PMID:9452090 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10360396 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10916280 PMID:11076046 PMID:11137837 PMID:11145098 PMID:11179018 PMID:11295840 PMID:11322659 PMID:11531969 PMID:11531972 PMID:11668641 PMID:11688386 PMID:11804208 PMID:11828341 PMID:11889412 PMID:11914245 PMID:12068026 PMID:12175777 PMID:12207598 PMID:12359124 PMID:12428061 PMID:12429061 PMID:12480979 PMID:12512750 PMID:12668521 PMID:12694230 PMID:12778775 PMID:12786754 PMID:12796853 PMID:12911529 PMID:12920095 PMID:12938095 PMID:14635108 PMID:14680977 PMID:15003450 PMID:15086478 PMID:15091117 PMID:15100373 PMID:15162124 PMID:15339079 PMID:15353880 PMID:15492942 PMID:15611419 PMID:15695328 PMID:15702403 PMID:15702404 PMID:15712228 PMID:15713906 PMID:15776423 PMID:15806320 PMID:15861341 PMID:15924232 PMID:15947062 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16224739 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16626582 PMID:16720462 PMID:16754800 PMID:16773563 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17437606 PMID:17452128 PMID:17532296 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 PMID:17804462 PMID:18003767 PMID:18023222 PMID:18046674 PMID:18057066 PMID:18154965 PMID:18154966 PMID:18205205 PMID:18287059 PMID:18297328 PMID:18387337 PMID:18424138 PMID:18472290 PMID:18555667 PMID:18560446 PMID:18565198 PMID:18596132 PMID:18633574 PMID:18698230 PMID:18724168 PMID:18784903 PMID:18830871 PMID:18849176 PMID:18974770 PMID:19265719 PMID:19285316 PMID:19287194 PMID:19320660 PMID:19373884 PMID:19387866 PMID:19621417 PMID:19763152 PMID:19823873 PMID:19925601 PMID:19941952 PMID:20022777 PMID:20031620 PMID:20110537 PMID:20122163 PMID:20139917 PMID:20300124 PMID:20307669 PMID:20360539 PMID:20367968 PMID:20464614 PMID:20498269 PMID:20505683 PMID:20615758 PMID:20628902 PMID:20629180 PMID:20716442 PMID:20821055 PMID:20864368 PMID:21062768 PMID:21092187 PMID:21138548 PMID:21229318 PMID:21333496 PMID:21353612 PMID:21420783 PMID:21517827 PMID:21549080 PMID:21587323 PMID:21598360 PMID:21683120 PMID:21700093 PMID:21804088 PMID:21890869 PMID:21896204 PMID:21946453 PMID:21972175 PMID:22004918 PMID:22063097 PMID:22078290 PMID:22176145 PMID:22205110 PMID:22226368 PMID:22227322 PMID:22241068 PMID:22305854 PMID:22336178 PMID:22378313 PMID:22406018 PMID:22437327 PMID:22472932 PMID:22498845 PMID:22551898 PMID:22563919 PMID:22682330 PMID:22695894 PMID:22773828 PMID:22805550 PMID:22874111 PMID:22880956 PMID:22905681 PMID:23109060 PMID:23146289 PMID:23210910 PMID:23219219 PMID:23248976 PMID:23305247 PMID:23306324 PMID:23307880 PMID:23332617 PMID:23378663 PMID:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430848 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23608164 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23756194 PMID:23818648 PMID:23826564 PMID:23867994 PMID:23913314 PMID:23922385 PMID:23935525 PMID:23980562 PMID:24015197 PMID:24033266 PMID:24082139 PMID:24094560 PMID:24236025 PMID:24334114 PMID:24365053 PMID:24380807 PMID:24386359 PMID:24395922 PMID:24503780 PMID:24582695 PMID:24613481 PMID:24626231 PMID:24626659 PMID:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:24830310 PMID:24980630 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25086909 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25487570 PMID:25511234 PMID:25525159 PMID:25531941 PMID:25596309 PMID:25611685 PMID:25619383 PMID:25637381 PMID:25640679 PMID:25655062 PMID:25663229 PMID:25666440 PMID:25741868 PMID:25750198 PMID:25762495 PMID:25772321 PMID:25795794 PMID:25835592 PMID:25865499 PMID:25896551 PMID:25900714 PMID:25949379 PMID:25955246 PMID:25965380 PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 PMID:26070511 PMID:26083343 PMID:26179544 PMID:26238931 PMID:26252393 PMID:26272908 PMID:26297554 PMID:26298600 PMID:26305465 PMID:26333625 PMID:26384850 PMID:26415523 PMID:26424312 PMID:26456105 PMID:26490103 PMID:26563328 PMID:26593248 PMID:26629990 PMID:26631895 PMID:26652600 PMID:26691501 PMID:26866599 PMID:26869469 PMID:26880903 PMID:26937405 PMID:26990548 PMID:27081853 PMID:27083555 PMID:27129690 PMID:27142856 PMID:27160240 PMID:27211852 PMID:27225851 PMID:27238910 PMID:27356758 PMID:27431810 PMID:27531472 PMID:27532257 PMID:27554049 PMID:27560961 PMID:27576502 PMID:27585509 PMID:27595546 PMID:27629047 PMID:27657681 PMID:27773586 PMID:27825144 PMID:27831900 PMID:27832731 PMID:27834756 PMID:27896102 PMID:27896103 PMID:27916943 PMID:27931613 PMID:27979989 PMID:27992580 PMID:28069318 PMID:28082092 PMID:28253518 PMID:28275245 PMID:28276057 PMID:28299312 PMID:28302345 PMID:28332257 PMID:28340691 PMID:28340804 PMID:28360401 PMID:28377241 PMID:28382085 PMID:28389313 PMID:28409012 PMID:28430823 PMID:28492532 PMID:28496025 PMID:28500230 PMID:28596458 PMID:28615118 PMID:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28717668 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28771489 PMID:28798024 PMID:28799081 PMID:28877708 PMID:28892806 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29019163 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29121657 PMID:29132836 PMID:29143201 PMID:29186537 PMID:29203563 PMID:29204651 PMID:29215092 PMID:29227985 PMID:29247119 PMID:29305833 PMID:29307789 PMID:29326878 PMID:29330335 PMID:29361493 PMID:29437868 PMID:29476735 PMID:29487688 PMID:29491734 PMID:29530533 PMID:29543226 PMID:29621274 PMID:29631605 PMID:29649853 PMID:29661900 PMID:29688992 PMID:29688998 PMID:29770213 PMID:29794742 PMID:29853467 PMID:29867742 PMID:29875425 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30085001 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30246259 PMID:30261035 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30497360 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30662066 PMID:30677769 PMID:30715505 PMID:30731207 PMID:30739116 PMID:30762167 PMID:30773290 PMID:30804731 PMID:30834538 PMID:30853972 PMID:30890379 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31028938 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31243236 PMID:31291414 PMID:31319156 PMID:31321922 PMID:31367522 PMID:31372342 PMID:31392112 PMID:31446751 PMID:31449323 PMID:31519519 PMID:31566927 PMID:31613176 PMID:31620600 PMID:31634893 PMID:31649303 PMID:31650418 PMID:31654629 PMID:31664448 PMID:31798221 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32036093 PMID:32042454 PMID:32099817 PMID:32109691 PMID:32127409 PMID:32150461 PMID:32161151 PMID:32198894 PMID:32203225 PMID:32246049 PMID:32246457 PMID:32306159 PMID:32418857 PMID:32435590 PMID:32442237 PMID:32486191 PMID:32531501 PMID:32583479 PMID:32699723 PMID:32714835 PMID:32719972 PMID:32789421 PMID:32793709 PMID:32797665 PMID:32802993 PMID:32813676 PMID:32843101 PMID:32860008 PMID:32901917 PMID:32995357 PMID:33016649 PMID:33022387 PMID:33036343 PMID:33040545 PMID:33072983 PMID:33073010 PMID:33163363 PMID:33179747 PMID:33204599 PMID:33301762 PMID:33437642 PMID:33495303 PMID:33527381 PMID:33543778 PMID:33545641 PMID:33673806 PMID:33712733 PMID:33835496 PMID:33907643 PMID:34199132 PMID:34205365 PMID:34270679 PMID:34401344 PMID:34545322 PMID:34679477 PMID:34803097 PMID:34905550 PMID:35548424 PMID:35743592 PMID:35743707 PMID:35870541 PMID:35971858 PMID:35977816 PMID:36013057 PMID:36140787 PMID:36156392 PMID:36292965 PMID:36745055 PMID:2539398 PMID:34320241 PMID:34541380 PMID:29563343 More...
RGD:1601350 , RGD:401976418 , RGD:401976419 , RGD:150429980
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
compared to wild type
RGD
PMID:29563343 PMID:34320241 PMID:34541380
RGD:150429980 , RGD:401976418 , RGD:401976419
G
Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:7531540 PMID:11889412 PMID:15776423 PMID:17532296 PMID:17555407 PMID:18205205 PMID:20022777 PMID:21598360 PMID:21683120 PMID:23691425 PMID:23913314 PMID:23935525 PMID:24033266 PMID:24386359 PMID:25026990 PMID:25040344 PMID:25382311 PMID:25596309 PMID:25741868 PMID:26563328 PMID:27831900 PMID:27979989 PMID:28492532 PMID:30386727 PMID:30594474 PMID:33204599 PMID:34803097 More...
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
G
Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889C>T (human)
RGD
PMID:17353161
RGD:6907117
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Mylk2
myosin light chain kinase 2
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:28492532
NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
G
Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:28492532
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
G
Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:28492532
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
G
Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: Fabry disease
ClinVar
PMID:10666480 PMID:12175777 PMID:28492532
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
G
Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype: :
RGD
PMID:18278558
RGD:13432071
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: Fabry disease, cardiac variant
ClinVar
PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 PMID:9100224 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:15702404 PMID:16773563 PMID:17532296 PMID:17555407 PMID:19287194 PMID:19621417 PMID:19823873 PMID:20031620 PMID:20505683 PMID:20821055 PMID:21598360 PMID:22241068 PMID:22437327 PMID:23109060 PMID:23378663 PMID:23935525 PMID:24033266 PMID:24386359 PMID:24980630 PMID:25382311 PMID:25611685 PMID:25741868 PMID:26869469 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27585509 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:28728877 PMID:29204651 PMID:29215092 PMID:29875425 PMID:30380558 PMID:30386727 PMID:30662066 PMID:30731207 PMID:30804731 PMID:30890379 PMID:31028938 PMID:31200018 PMID:31519519 PMID:31798221 PMID:32099817 PMID:32246049 PMID:35743592 PMID:36013057 More...
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Apoa5
apolipoprotein A5
susceptibility
ISO
OMIM
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
G
Apoc2
apolipoprotein C2
ISO
ClinVar Annotator: match by term: Familial apolipoprotein C-II deficiency
OMIM ClinVar
PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 PMID:2477392 PMID:2592354 PMID:3192518 PMID:3225819 PMID:3263393 PMID:3467353 PMID:3680515 PMID:3944267 PMID:3944271 PMID:7815420 PMID:7923858 PMID:8323539 PMID:8490626 PMID:12783430 PMID:22135386 PMID:24788417 PMID:24886863 PMID:25741868 PMID:25910212 PMID:28492532 PMID:29100061 PMID:30197986 PMID:30686043 PMID:30793526 PMID:32861330 PMID:33111339 PMID:33116287 More...
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
G
Add1
adducin 1
ISO
DNA:polymorphism: :p.Gly460Trp (human)
RGD
PMID:11775124
RGD:1559299
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
G
Alpl
alkaline phosphatase, biomineralization associated
ISO
RGD
PMID:16336518
RGD:1601173
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
G
Apoa2
apolipoprotein A2
ISO
protein:increased expression:plasma:
RGD
PMID:12738753
RGD:1300287
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
G
Apob
apolipoprotein B
ISO
protein:increased expression:plasma ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar RGD
PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1770316 PMID:1793440 PMID:1977310 PMID:2280177 PMID:2375782 PMID:2563166 PMID:2725600 PMID:2843815 PMID:2903181 PMID:3399894 PMID:3473077 PMID:3477815 PMID:3771801 PMID:7627691 PMID:7670940 PMID:7882518 PMID:7883971 PMID:8141833 PMID:8254047 PMID:8318509 PMID:8318993 PMID:8371062 PMID:8468533 PMID:8478017 PMID:8723684 PMID:8831935 PMID:8889592 PMID:8931699 PMID:8960785 PMID:9081691 PMID:9104431 PMID:9105560 PMID:9191540 PMID:9254062 PMID:9259199 PMID:9339363 PMID:9486979 PMID:9490296 PMID:9536098 PMID:9568749 PMID:9603795 PMID:9654205 PMID:9702952 PMID:9925662 PMID:10208479 PMID:10388479 PMID:10529757 PMID:10735632 PMID:10952765 PMID:11031227 PMID:11115503 PMID:11137107 PMID:11238294 PMID:11494965 PMID:11781700 PMID:11810272 PMID:11833852 PMID:11940084 PMID:11941481 PMID:12124991 PMID:12655413 PMID:12872264 PMID:14508510 PMID:14732481 PMID:15135245 PMID:15514099 PMID:15797858 PMID:15805152 PMID:15984016 PMID:16199547 PMID:16250003 PMID:17043676 PMID:17046772 PMID:17087781 PMID:17142622 PMID:17160438 PMID:17539906 PMID:17570373 PMID:17576681 PMID:17588943 PMID:17595251 PMID:17765246 PMID:17964958 PMID:17968143 PMID:18022922 PMID:18028451 PMID:18096825 PMID:18160469 PMID:18222178 PMID:18258526 PMID:18279815 PMID:18325181 PMID:18355452 PMID:18492086 PMID:18700895 PMID:18710658 PMID:19602640 PMID:20032471 PMID:20145306 PMID:20167924 PMID:20236128 PMID:20506408 PMID:20538126 PMID:20592474 PMID:20657596 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20981092 PMID:21033204 PMID:21059979 PMID:21270786 PMID:21303902 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 PMID:21513517 PMID:21520333 PMID:21657943 PMID:21722902 PMID:21862702 PMID:21868016 PMID:21919778 PMID:22095935 PMID:22244043 PMID:22256951 PMID:22294733 PMID:22353362 PMID:22408029 PMID:22534770 PMID:22544856 PMID:22698793 PMID:22855658 PMID:22863191 PMID:22883975 PMID:22923420 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23593297 PMID:23680767 PMID:23685560 PMID:23775634 PMID:23833242 PMID:23936638 PMID:24033266 PMID:24106285 PMID:24234650 PMID:24404629 PMID:24498611 PMID:24503134 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24627126 PMID:24784157 PMID:24892279 PMID:24956927 PMID:24987033 PMID:25430706 PMID:25461735 PMID:25647241 PMID:25712136 PMID:25741868 PMID:25974703 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26415676 PMID:26467025 PMID:26516186 PMID:26546829 PMID:26612772 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26892515 PMID:27153395 PMID:27206935 PMID:27206948 PMID:27365461 PMID:27497240 PMID:27516387 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27824480 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28166811 PMID:28405938 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28733173 PMID:28895539 PMID:28953935 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29192238 PMID:29233637 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29459468 PMID:29540175 PMID:29555771 PMID:29572815 PMID:29590070 PMID:29598884 PMID:29870584 PMID:30030251 PMID:30056620 PMID:30122538 PMID:30206226 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 PMID:30333156 PMID:30348779 PMID:30420299 PMID:30526649 PMID:30586733 PMID:30592178 PMID:30681615 PMID:30694319 PMID:30710474 PMID:30782561 PMID:30842500 PMID:30971288 PMID:31028937 PMID:31106297 PMID:31135820 PMID:31150472 PMID:31153816 PMID:31345425 PMID:31371270 PMID:31447099 PMID:31570899 PMID:31624253 PMID:31893465 PMID:31980526 PMID:32009526 PMID:32044282 PMID:32101375 PMID:32115487 PMID:32355288 PMID:32591292 PMID:32625235 PMID:32702746 PMID:32706999 PMID:32719484 PMID:32770674 PMID:33006316 PMID:33020668 PMID:33059327 PMID:33111339 PMID:33207932 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33489595 PMID:33508743 PMID:33519890 PMID:33740630 PMID:33875564 PMID:34037665 PMID:34297352 PMID:34426522 PMID:34445196 PMID:34456049 PMID:34650182 PMID:34875256 PMID:35047021 PMID:35052492 PMID:35276540 PMID:35339733 PMID:35741760 PMID:35761384 PMID:35910211 PMID:35913489 PMID:36105085 PMID:36190978 PMID:36196022 PMID:36499307 PMID:36555767 PMID:36973604 PMID:37593691 PMID:16797745 More...
RGD:1601200
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Apoc3
apolipoprotein C3
no_association
ISO
DNA:haplotype, snp:3' utr:g.3175G>C (human)
RGD
PMID:15863838 PMID:9812922 PMID:9062353
RGD:1601225 , RGD:5685676 , RGD:5685674
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Apoe
apolipoprotein E
ISO
DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human)
RGD
PMID:17127808 PMID:12915220
RGD:1601231 , RGD:1578481
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Faslg
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15063428
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
DNA:haplotype: :rs6031558,rs745975, rs3212198(human)
RGD
PMID:18340007
RGD:12904697
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
G
Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb
ClinVar
PMID:7616128 PMID:7709162 PMID:9039985 PMID:9259195 PMID:9654205 PMID:10208490 PMID:15256764 PMID:17142622 PMID:17765246 PMID:18263977 PMID:19318025 PMID:20145306 PMID:20538126 PMID:20809525 PMID:21310417 PMID:21382890 PMID:22390909 PMID:22698793 PMID:23375686 PMID:25461735 PMID:25487149 PMID:25525159 PMID:25741868 PMID:25846081 PMID:26467025 PMID:27680772 PMID:28235710 PMID:28492532 PMID:28645073 PMID:29261184 PMID:30592178 PMID:31345425 PMID:31727422 PMID:32331935 PMID:32522009 PMID:32719484 PMID:32770674 PMID:33087929 PMID:33269076 PMID:33418990 PMID:33740630 PMID:34037665 More...
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lipc
lipase C, hepatic type
ISO
RGD
PMID:16338252
RGD:1580512
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
G
Lpl
lipoprotein lipase
ISO
ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 PMID:1512512 PMID:1598907 PMID:1619366 PMID:1639392 PMID:1674945 PMID:1702428 PMID:1730727 PMID:1731801 PMID:1752947 PMID:1872917 PMID:1907278 PMID:1969408 PMID:1975597 PMID:2038366 PMID:2394828 PMID:2914262 PMID:6645961 PMID:7607318 PMID:7647785 PMID:7753827 PMID:7906986 PMID:8096693 PMID:8099055 PMID:8199176 PMID:8541837 PMID:8732773 PMID:8808493 PMID:8872057 PMID:8956048 PMID:8973094 PMID:9401010 PMID:9550358 PMID:9811888 PMID:10359734 PMID:10364086 PMID:10517255 PMID:10560236 PMID:10619999 PMID:11260209 PMID:11334614 PMID:11893776 PMID:12204001 PMID:12655575 PMID:12839295 PMID:12905705 PMID:15877202 PMID:16199547 PMID:16278884 PMID:16972177 PMID:17476032 PMID:17560523 PMID:17717288 PMID:18068174 PMID:18350203 PMID:18922999 PMID:19034041 PMID:19335919 PMID:20650961 PMID:21146168 PMID:21159338 PMID:22095987 PMID:22239554 PMID:22691586 PMID:23212406 PMID:23357145 PMID:23484243 PMID:24033266 PMID:24291057 PMID:24366202 PMID:24503134 PMID:24507774 PMID:24591733 PMID:24627108 PMID:24646025 PMID:24747307 PMID:24793350 PMID:25741868 PMID:25966443 PMID:26079787 PMID:26156051 PMID:26337181 PMID:26342331 PMID:26892137 PMID:26975783 PMID:27055971 PMID:27097985 PMID:27142713 PMID:27150867 PMID:27206937 PMID:27573733 PMID:28008009 PMID:28267856 PMID:28438574 PMID:28492532 PMID:28502509 PMID:28606150 PMID:28951076 PMID:29054425 PMID:29153744 PMID:29288010 PMID:29431110 PMID:29748148 PMID:29921298 PMID:30150141 PMID:30210108 PMID:30352774 PMID:30389453 PMID:30420299 PMID:30559189 PMID:31153847 PMID:31352695 PMID:31589614 PMID:31619059 PMID:31669931 PMID:31901151 PMID:32041611 PMID:32472350 PMID:33217533 PMID:33303402 PMID:33588820 PMID:34363016 PMID:34635320 PMID:35309119 PMID:35368694 PMID:35837325 PMID:36555767 More...
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Serpine1
serpin family E member 1
ISO
protein:increased expression:plasma:
RGD
PMID:18417194
RGD:13207412
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Thbd
thrombomodulin
ISO
RGD
PMID:15262191
RGD:1601645
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Usf1
upstream transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to
CTD ClinVar
PMID:14991056 PMID:16076849
NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
G
Vwf
von Willebrand factor
ISO
protein:increased expression:plasma:
RGD
PMID:18417194
RGD:13207412
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
G
Gpihbp1
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
ISO
ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19304573 PMID:20026666 PMID:20124439 PMID:21478160 PMID:21816778 PMID:22239554 PMID:23806086 PMID:24088041 PMID:24614124 PMID:25387803 PMID:25741868 PMID:27185325 PMID:28492532 PMID:30352774 PMID:31153847 PMID:31589614 PMID:31785789 PMID:33223529 PMID:33303402 PMID:35770288 PMID:36978188 More...
NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9279208 PMID:9360638 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Baat
bile acid CoA:amino acid N-acyltransferase
ISO
ClinVar Annotator: match by term: Hypercholanemia, familial
ClinVar
NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
G
Ephx1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878321
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
G
Tjp2
tight junction protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
G
Baat
bile acid CoA:amino acid N-acyltransferase
ISO
ClinVar Annotator: match by term: Hypercholanemia, familial 1
ClinVar
PMID:17495420 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
G
Dock6
dedicator of cytokinesis 6
ISO
ClinVar Annotator: match by term: Hypercholanemia, familial 1
ClinVar
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
G
Ephx1
epoxide hydrolase 1
ISO
ClinVar Annotator: match by term: Hypercholanemia, familial 1
ClinVar
PMID:25326635 PMID:25741868
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
G
Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Hypercholanemia, familial 1 | ClinVar Annotator: match by term: TJP2-related condition
OMIM ClinVar
PMID:12704386 PMID:23767834 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28924228 PMID:29238877 PMID:30311386 PMID:32439973 More...
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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Slc10a1
solute carrier family 10 member 1
ISO
ClinVar Annotator: match by term: Hypercholanemia, familial, 2 | ClinVar Annotator: match by term: SLC10A1-related condition
OMIM ClinVar
PMID:14660639 PMID:24867799 PMID:25418280 PMID:25741868 PMID:27882152 PMID:28835676 PMID:29658451 More...
NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
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Abca1
ATP binding cassette subfamily A member 1
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar
PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 PMID:28492532 More...
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
G
Apoa2
apolipoprotein A2
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:12522687
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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Apob
apolipoprotein B
ISO
DNA:deletion:promoter, exon: ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar RGD
PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1793440 PMID:1977310 PMID:2280177 PMID:2375782 PMID:2563166 PMID:2574033 PMID:2614276 PMID:2725600 PMID:2843815 PMID:2903181 PMID:3477815 PMID:3771801 PMID:7627691 PMID:7670940 PMID:7883971 PMID:8141833 PMID:8254047 PMID:8318509 PMID:8318993 PMID:8354962 PMID:8371062 PMID:8468533 PMID:8478017 PMID:8723684 PMID:8831935 PMID:8889592 PMID:8931699 PMID:8960785 PMID:9081691 PMID:9104431 PMID:9105560 PMID:9191540 PMID:9254062 PMID:9259199 PMID:9339363 PMID:9486979 PMID:9490296 PMID:9536098 PMID:9568749 PMID:9603795 PMID:9654205 PMID:9702952 PMID:9925662 PMID:10208479 PMID:10388479 PMID:10529757 PMID:10735632 PMID:10952765 PMID:11031227 PMID:11115503 PMID:11137107 PMID:11238294 PMID:11494965 PMID:11781700 PMID:11810272 PMID:11833852 PMID:11941481 PMID:12031600 PMID:12124991 PMID:14508510 PMID:14732481 PMID:15135245 PMID:15797858 PMID:15805152 PMID:16199547 PMID:16250003 PMID:17046772 PMID:17087781 PMID:17142622 PMID:17160438 PMID:17539906 PMID:17570373 PMID:17576681 PMID:17588943 PMID:17595251 PMID:17765246 PMID:17964958 PMID:17968143 PMID:18022922 PMID:18028451 PMID:18096825 PMID:18160469 PMID:18222178 PMID:18258526 PMID:18279815 PMID:18325181 PMID:18355452 PMID:18492086 PMID:18700895 PMID:18710658 PMID:19602640 PMID:20032471 PMID:20145306 PMID:20167924 PMID:20236128 PMID:20506408 PMID:20538126 PMID:20592474 PMID:20657596 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20981092 PMID:21033204 PMID:21059979 PMID:21270786 PMID:21303902 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 PMID:21513517 PMID:21520333 PMID:21657943 PMID:21722902 PMID:21862702 PMID:21868016 PMID:21919778 PMID:22095935 PMID:22244043 PMID:22256951 PMID:22294733 PMID:22353362 PMID:22408029 PMID:22534770 PMID:22544856 PMID:22698793 PMID:22855658 PMID:22863191 PMID:22883975 PMID:22923420 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23593297 PMID:23680767 PMID:23685560 PMID:23775634 PMID:23833242 PMID:23936638 PMID:24033266 PMID:24106285 PMID:24234650 PMID:24404629 PMID:24498611 PMID:24503134 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24627126 PMID:24784157 PMID:24892279 PMID:24956927 PMID:24987033 PMID:25461735 PMID:25647241 PMID:25712136 PMID:25741868 PMID:25741869 PMID:25974703 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26361156 PMID:26415676 PMID:26467025 PMID:26516186 PMID:26546829 PMID:26612772 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26892515 PMID:27153395 PMID:27206935 PMID:27206948 PMID:27365461 PMID:27497240 PMID:27516387 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27824480 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28166811 PMID:28405938 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28895539 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29192238 PMID:29233637 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29396286 PMID:29459468 PMID:29540175 PMID:29555771 PMID:29572815 PMID:29590070 PMID:29598884 PMID:29870584 PMID:30030251 PMID:30056620 PMID:30076208 PMID:30122538 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 PMID:30333156 PMID:30389453 PMID:30420299 PMID:30526649 PMID:30586733 PMID:30592178 PMID:30681615 PMID:30694319 PMID:30710474 PMID:30782561 PMID:30842500 PMID:30971288 PMID:31028937 PMID:31106297 PMID:31135820 PMID:31150472 PMID:31345425 PMID:31371270 PMID:31447099 PMID:31570899 PMID:31589614 PMID:31624253 PMID:31893465 PMID:31980526 PMID:32009526 PMID:32044282 PMID:32101375 PMID:32115487 PMID:32355288 PMID:32591292 PMID:32702746 PMID:32706999 PMID:32719484 PMID:32770674 PMID:33006316 PMID:33020668 PMID:33111339 PMID:33137929 PMID:33207932 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33489595 PMID:33508743 PMID:33519890 PMID:33740630 PMID:33875564 PMID:34037665 PMID:34297352 PMID:34426522 PMID:34428338 PMID:34456049 PMID:34650182 PMID:35047021 PMID:35052492 PMID:35276540 PMID:35339733 PMID:35741760 PMID:35910211 PMID:35913489 PMID:35979295 PMID:36071769 PMID:36105085 PMID:36190978 PMID:36196022 PMID:37593691 PMID:37675602 PMID:3627182 More...
RGD:11527221
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Apoe
apolipoprotein E
IMP ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar RGD
PMID:29166645
RGD:150520219
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Apoeem1Ejt
apolipoprotein E; TALEN induced mutant 1, Ejt
IMP
RGD
PMID:29166645
RGD:150520219
G
Apoeem1Sage
apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:29166645
RGD:150520219
G
C8h19orf38
similar to human chromosome 19 open reading frame 38
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar
PMID:28492532
NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696
G
Carm1
coactivator-associated arginine methyltransferase 1
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar
PMID:28492532
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
G
Dnm2
dynamin 2
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar
PMID:28492532
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
G
Dock6
dedicator of cytokinesis 6
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar
PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 PMID:25741868 More...
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
G
Ephx2
epoxide hydrolase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
OMIM CTD ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 PMID:25741868 More...
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
G
Ghr
growth hormone receptor
ISO
ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
OMIM ClinVar CTD
PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 PMID:17462934 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
G
Gk
glycerol kinase
IDA
RGD
PMID:10642898
RGD:13702898
NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
G
Ldlr
low density lipoprotein receptor
ISO ISS
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM:143890 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
OMIM ClinVar MouseDO CTD
PMID:200368 PMID:251034 PMID:268635 PMID:322919 PMID:322946 PMID:484688 PMID:484703 PMID:484769 PMID:503112 PMID:503179 PMID:503269 PMID:503406 PMID:503411 PMID:503426 PMID:540742 PMID:540783 PMID:583701 PMID:583768 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 PMID:1301956 PMID:1310940 PMID:1315570 PMID:1319734 PMID:1348044 PMID:1352322 PMID:1362925 PMID:1372927 PMID:1374151 PMID:1438159 PMID:1446662 PMID:1453433 PMID:1463746 PMID:1464748 PMID:1493640 PMID:1538685 PMID:1609792 PMID:1634609 PMID:1677927 PMID:1714262 PMID:1727071 PMID:1734722 PMID:1734910 PMID:1757095 PMID:1830890 PMID:1863993 PMID:1884514 PMID:1952806 PMID:1959928 PMID:1960926 PMID:1960933 PMID:1978630 PMID:1978682 PMID:1998642 PMID:1999337 PMID:2015373 PMID:2029498 PMID:2088165 PMID:2143996 PMID:2298751 PMID:2318961 PMID:2324680 PMID:2352257 PMID:2506353 PMID:2506357 PMID:2544509 PMID:2548714 PMID:2565980 PMID:2568019 PMID:2569482 PMID:2570157 PMID:2572061 PMID:2600087 PMID:2698793 PMID:2726768 PMID:2760198 PMID:2760205 PMID:2777800 PMID:2799589 PMID:2805380 PMID:2831865 PMID:2837085 PMID:2895023 PMID:2901412 PMID:2920733 PMID:2988123 PMID:3005267 PMID:3012527 PMID:3020025 PMID:3025214 PMID:3155573 PMID:3198114 PMID:3202825 PMID:3204161 PMID:3263645 PMID:3343347 PMID:3391282 PMID:3425583 PMID:3430554 PMID:3472763 PMID:3475071 PMID:3494949 PMID:3495735 PMID:3517112 PMID:3549308 PMID:3572996 PMID:3627182 PMID:3807681 PMID:3815525 PMID:3816797 PMID:3818645 PMID:3924410 PMID:3955657 PMID:4039004 PMID:4061491 PMID:4061492 PMID:4083361 PMID:4319990 PMID:4750422 PMID:6091915 PMID:6272292 PMID:6288770 PMID:6299582 PMID:6324732 PMID:6438436 PMID:7489239 PMID:7545204 PMID:7548065 PMID:7550239 PMID:7557960 PMID:7562961 PMID:7573037 PMID:7581403 PMID:7583548 PMID:7586640 PMID:7603991 PMID:7606846 PMID:7616128 PMID:7635461 PMID:7635482 PMID:7649546 PMID:7649549 PMID:7682459 PMID:7709162 PMID:7718019 PMID:7718023 PMID:7718024 PMID:7749819 PMID:7749829 PMID:7773731 PMID:7789953 PMID:7820934 PMID:7833932 PMID:7866407 PMID:7894220 PMID:7903269 PMID:7903864 PMID:7937987 PMID:7947594 PMID:7979249 PMID:7989866 PMID:8004803 PMID:8054972 PMID:8093663 PMID:8096412 PMID:8098448 PMID:8103503 PMID:8141835 PMID:8168830 PMID:8218110 PMID:8225312 PMID:8292093 PMID:8295321 PMID:8314561 PMID:8314806 PMID:8347689 PMID:8399083 PMID:8401534 PMID:8409767 PMID:8462973 PMID:8478013 PMID:8535447 PMID:8568489 PMID:8589690 PMID:8599353 PMID:8634338 PMID:8644729 PMID:8645371 PMID:8645375 PMID:8664907 PMID:8664911 PMID:8678915 PMID:8697568 PMID:8740918 PMID:8784348 PMID:8792825 PMID:8828981 PMID:8828982 PMID:8829662 PMID:8831933 PMID:8844215 PMID:8850176 PMID:8872473 PMID:8879444 PMID:8882879 PMID:8911609 PMID:8931648 PMID:9003505 PMID:9007329 PMID:9016531 PMID:9026534 PMID:9039985 PMID:9048913 PMID:9090532 PMID:9104431 PMID:9137885 PMID:9143924 PMID:9147888 PMID:9157944 PMID:9180246 PMID:9184256 PMID:9195230 PMID:9212177 PMID:9222758 PMID:9225977 PMID:9237502 PMID:9237510 PMID:9254862 PMID:9259195 PMID:9261272 PMID:9262405 PMID:9272705 PMID:9375633 PMID:9399845 PMID:9409298 PMID:9409302 PMID:9412789 PMID:9452078 PMID:9452094 PMID:9452095 PMID:9452118 PMID:9484998 PMID:9500809 PMID:9536098 PMID:9538514 PMID:9544726 PMID:9544745 PMID:9544746 PMID:9544850 PMID:9547893 PMID:9610768 PMID:9654205 PMID:9660059 PMID:9664576 PMID:9671270 PMID:9676383 PMID:9678702 PMID:9684750 PMID:9698020 PMID:9712531 PMID:9727745 PMID:9727746 PMID:9733232 PMID:9763532 PMID:9767373 PMID:9852677 PMID:9889019 PMID:9925649 PMID:9974426 PMID:10064736 PMID:10066037 PMID:10081189 PMID:10089940 PMID:10090473 PMID:10090484 PMID:10200052 PMID:10206683 PMID:10208479 PMID:10208489 PMID:10208490 PMID:10208499 PMID:10230472 PMID:10357843 PMID:10407508 PMID:10412552 PMID:10422802 PMID:10422803 PMID:10422804 PMID:10428988 PMID:10441197 PMID:10447263 PMID:10484771 PMID:10487495 PMID:10532689 PMID:10559517 PMID:10570905 PMID:10611908 PMID:10611909 PMID:10634824 PMID:10657581 PMID:10660340 PMID:10668928 PMID:10704205 PMID:10735631 PMID:10735632 PMID:10737984 PMID:10782930 PMID:10790219 PMID:10807540 PMID:10882754 PMID:10884919 PMID:10924730 PMID:10926901 PMID:10933493 PMID:10947889 PMID:10978268 PMID:10980548 PMID:11005141 PMID:11013454 PMID:11031227 PMID:11040093 PMID:11052664 PMID:11139254 PMID:11182933 PMID:11194025 PMID:11194027 PMID:11196104 PMID:11237541 PMID:11238294 PMID:11257257 PMID:11295843 PMID:11298688 PMID:11298777 PMID:11310584 PMID:11313767 PMID:11317361 PMID:11317362 PMID:11325764 PMID:11373616 PMID:11381031 PMID:11389828 PMID:11435110 PMID:11462246 PMID:11472754 PMID:11472756 PMID:11484166 PMID:11491306 PMID:11506462 PMID:11524740 PMID:11585102 PMID:11600564 PMID:11641914 PMID:11642133 PMID:11668627 PMID:11668640 PMID:11675977 PMID:11737238 PMID:11754108 PMID:11792717 PMID:11810272 PMID:11845603 PMID:11851376 PMID:11857755 PMID:11916007 PMID:11933210 PMID:11939787 PMID:12009418 PMID:12052488 PMID:12055704 PMID:12112655 PMID:12113284 PMID:12124988 PMID:12205127 PMID:12227864 PMID:12406975 PMID:12414836 PMID:12417285 PMID:12436241 PMID:12442279 PMID:12459547 PMID:12473547 PMID:12485531 PMID:12492446 PMID:12522687 PMID:12553167 PMID:12575931 PMID:12628589 PMID:12673584 PMID:12705331 PMID:12730724 PMID:12820708 PMID:12837857 PMID:12910492 PMID:14209286 PMID:14508510 PMID:14512370 PMID:14570618 PMID:14616764 PMID:14624402 PMID:14675545 PMID:14749324 PMID:14756670 PMID:14767901 PMID:14974088 PMID:14993243 PMID:15015036 PMID:15035285 PMID:15068387 PMID:15100232 PMID:15135252 PMID:15172466 PMID:15199436 PMID:15200491 PMID:15241806 PMID:15256764 PMID:15303010 PMID:15359125 PMID:15477777 PMID:15494314 PMID:15497035 PMID:15523646 PMID:15528480 PMID:15556092 PMID:15556093 PMID:15556094 PMID:15576851 PMID:15633194 PMID:15637307 PMID:15701167 PMID:15741231 PMID:15823276 PMID:15823280 PMID:15823288 PMID:15842735 PMID:15864114 PMID:15885240 PMID:15890894 PMID:15899484 PMID:15914792 PMID:15936313 PMID:15952897 PMID:15998910 PMID:16092059 PMID:16099208 PMID:16115486 PMID:16159606 PMID:16183066 PMID:16199547 PMID:16205024 PMID:16211558 PMID:16250003 PMID:16286607 PMID:16314194 PMID:16343504 PMID:16389549 PMID:16406299 PMID:16424354 PMID:16465405 PMID:16466730 PMID:16502360 PMID:16530458 PMID:16542394 PMID:16546193 PMID:16627557 PMID:16630895 PMID:16735037 PMID:16740646 PMID:16792510 PMID:16796766 PMID:16801348 PMID:16806138 PMID:17044844 PMID:17087781 PMID:17094996 PMID:17142622 PMID:17196209 PMID:17335829 PMID:17347910 PMID:17353666 PMID:17399720 PMID:17406740 PMID:17408384 PMID:17426749 PMID:17445538 PMID:17539906 PMID:17576681 PMID:17625505 PMID:17673191 PMID:17694954 PMID:17761685 PMID:17765246 PMID:17935672 PMID:17950741 PMID:17955342 PMID:17964958 PMID:18022922 PMID:18096825 PMID:18206115 PMID:18239150 PMID:18243212 PMID:18247305 PMID:18263977 PMID:18279815 PMID:18325082 PMID:18339137 PMID:18355452 PMID:18400033 PMID:18503695 PMID:18607183 PMID:18648394 PMID:18677035 PMID:18700895 PMID:18701038 PMID:18718593 PMID:18757057 PMID:18847225 PMID:18929537 PMID:19001363 PMID:19007590 PMID:19013141 PMID:19020990 PMID:19026292 PMID:19040724 PMID:19060911 PMID:19062533 PMID:19073363 PMID:19081415 PMID:19118540 PMID:19148831 PMID:19208450 PMID:19224862 PMID:19318025 PMID:19319977 PMID:19361455 PMID:19371225 PMID:19411563 PMID:19446849 PMID:19467224 PMID:19487412 PMID:19520913 PMID:19538517 PMID:19544207 PMID:19602640 PMID:19674976 PMID:19717150 PMID:19763152 PMID:19797716 PMID:19827648 PMID:19837725 PMID:19843101 PMID:20006333 PMID:20018285 PMID:20019594 PMID:20030366 PMID:20045108 PMID:20089850 PMID:20091938 PMID:20144596 PMID:20145306 PMID:20217239 PMID:20236128 PMID:20307669 PMID:20308432 PMID:20428891 PMID:20452591 PMID:20506408 PMID:20538126 PMID:20599862 PMID:20663204 PMID:20703241 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20962452 PMID:20964105 PMID:20981092 PMID:21115573 PMID:21145767 PMID:21146822 PMID:21157333 PMID:21252755 PMID:21261563 PMID:21276076 PMID:21310417 PMID:21376320 PMID:21377952 PMID:21382890 PMID:21418584 PMID:21457052 PMID:21475731 PMID:21511053 PMID:21531209 PMID:21538688 PMID:21642693 PMID:21722902 PMID:21829380 PMID:21865347 PMID:21868016 PMID:21872251 PMID:21925044 PMID:21925660 PMID:21935675 PMID:21955034 PMID:21957200 PMID:21990180 PMID:22081141 PMID:22089669 PMID:22091758 PMID:22095935 PMID:22129472 PMID:22160468 PMID:22177269 PMID:22220933 PMID:22244043 PMID:22293196 PMID:22294733 PMID:22311046 PMID:22353362 PMID:22371747 PMID:22390909 PMID:22406018 PMID:22417841 PMID:22425645 PMID:22461740 PMID:22487947 PMID:22509010 PMID:22528129 PMID:22544571 PMID:22669020 PMID:22683370 PMID:22691586 PMID:22698793 PMID:22836070 PMID:22859806 PMID:22881376 PMID:22883975 PMID:22910581 PMID:22923420 PMID:22995991 PMID:22998978 PMID:23021490 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23155708 PMID:23158915 PMID:23315997 PMID:23340035 PMID:23345538 PMID:23369702 PMID:23375686 PMID:23415438 PMID:23430853 PMID:23510778 PMID:23535506 PMID:23536757 PMID:23537714 PMID:23538283 PMID:23669246 PMID:23675525 PMID:23680767 PMID:23733886 PMID:23769672 PMID:23815734 PMID:23820649 PMID:23833242 PMID:23936638 PMID:23997648 PMID:24014831 PMID:24033266 PMID:24055113 PMID:24075752 PMID:24082139 PMID:24088637 PMID:24103783 PMID:24163242 PMID:24234650 PMID:24249837 PMID:24281370 PMID:24284361 PMID:24336170 PMID:24338390 PMID:24373485 PMID:24420163 PMID:24450200 PMID:24503134 PMID:24507775 PMID:24529145 PMID:24561735 PMID:24585268 PMID:24627126 PMID:24632281 PMID:24671153 PMID:24722143 PMID:24785115 PMID:24798328 PMID:24916650 PMID:24918045 PMID:24956927 PMID:24988984 PMID:25014035 PMID:25043216 PMID:25057385 PMID:25154303 PMID:25234566 PMID:25248394 PMID:25257073 PMID:25282520 PMID:25333069 PMID:25378237 PMID:25386756 PMID:25395200 PMID:25412742 PMID:25414273 PMID:25437892 PMID:25461735 PMID:25463123 PMID:25487149 PMID:25525159 PMID:25545329 PMID:25606447 PMID:25618577 PMID:25624525 PMID:25637381 PMID:25640679 PMID:25647241 PMID:25682026 PMID:25682442 PMID:25740221 PMID:25741862 PMID:25741868 PMID:25741870 PMID:25741871 PMID:25741872 PMID:25741873 PMID:25741874 PMID:25756439 PMID:25775905 PMID:25781017 PMID:25786579 PMID:25807990 PMID:25839937 PMID:25846081 PMID:25887683 PMID:25907359 PMID:25911074 PMID:25911080 PMID:25921077 PMID:25936317 PMID:25936346 PMID:25962062 PMID:25985138 PMID:26020417 PMID:26036859 PMID:26046366 PMID:26077743 PMID:26081744 PMID:26220972 PMID:26228681 PMID:26238499 PMID:26283345 PMID:26298359 PMID:26327206 PMID:26332594 PMID:26342331 PMID:26343872 PMID:26345093 PMID:26361156 PMID:26366554 PMID:26371983 PMID:26415676 PMID:26433113 PMID:26467025 PMID:26510755 PMID:26608663 PMID:26632531 PMID:26633542 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26723464 PMID:26748104 PMID:26755827 PMID:26795593 PMID:26802169 PMID:26875521 PMID:26892515 PMID:26894473 PMID:26908947 PMID:26927322 PMID:27044878 PMID:27050191 PMID:27135400 PMID:27153395 PMID:27175606 PMID:27185354 PMID:27206935 PMID:27206941 PMID:27206942 PMID:27247956 PMID:27294413 PMID:27365335 PMID:27497240 PMID:27542166 PMID:27578104 PMID:27578108 PMID:27578117 PMID:27578127 PMID:27578128 PMID:27596133 PMID:27678436 PMID:27680772 PMID:27765764 PMID:27777316 PMID:27783906 PMID:27784735 PMID:27816806 PMID:27821657 PMID:27824480 PMID:27828139 PMID:27830735 PMID:27831900 PMID:27854218 PMID:27878139 PMID:27884173 PMID:27895090 PMID:27919346 PMID:27919364 PMID:27932355 PMID:27940769 PMID:27998977 PMID:28008009 PMID:28008010 PMID:28028493 PMID:28087566 PMID:28104544 PMID:28126585 PMID:28145427 PMID:28159968 PMID:28161202 PMID:28166811 PMID:28169869 PMID:28179607 PMID:28220743 PMID:28235710 PMID:28290784 PMID:28334946 PMID:28349240 PMID:28349888 PMID:28353356 PMID:28379029 PMID:28391882 PMID:28432645 PMID:28458923 PMID:28475941 PMID:28492532 PMID:28502495 PMID:28502510 PMID:28587771 PMID:28619117 PMID:28645073 PMID:28873201 PMID:28895539 PMID:28932795 PMID:28958694 PMID:28964736 PMID:28965616 PMID:28993407 PMID:29083407 PMID:29172679 PMID:29192238 PMID:29213121 PMID:29233637 PMID:29245966 PMID:29261184 PMID:29269200 PMID:29284604 PMID:29290422 PMID:29292049 PMID:29306853 PMID:29353225 PMID:29396260 PMID:29399563 PMID:29407885 PMID:29459468 PMID:29502162 PMID:29531935 PMID:29572815 PMID:29576406 PMID:29693183 PMID:29720182 PMID:29802317 PMID:29870584 PMID:29874871 PMID:29937437 PMID:29974534 PMID:30016271 PMID:30017729 PMID:30019023 PMID:30108616 PMID:30112042 PMID:30179711 PMID:30241732 PMID:30270055 PMID:30270076 PMID:30270081 PMID:30270082 PMID:30270083 PMID:30270084 PMID:30270091 PMID:30270359 PMID:30292637 PMID:30293936 PMID:30312929 PMID:30318454 PMID:30332439 PMID:30333156 PMID:30400955 PMID:30413722 PMID:30415195 PMID:30487145 PMID:30512145 PMID:30526649 PMID:30583242 PMID:30586733 PMID:30592178 PMID:30592719 PMID:30617148 PMID:30637778 PMID:30649024 PMID:30710474 PMID:30745271 PMID:30745730 PMID:30777337 PMID:30778614 PMID:30795984 PMID:30827231 PMID:30876527 PMID:30876530 PMID:30919572 PMID:30949068 PMID:30971288 PMID:30975109 PMID:31048103 PMID:31102204 PMID:31106297 PMID:31106925 PMID:31153816 PMID:31153847 PMID:31213876 PMID:31241493 PMID:31345425 PMID:31371270 PMID:31387896 PMID:31395865 PMID:31401775 PMID:31447099 PMID:31491741 PMID:31578082 PMID:31587492 PMID:31589614 PMID:31617323 PMID:31653860 PMID:31686828 PMID:31689621 PMID:31706281 PMID:31727422 PMID:31746944 PMID:31893465 PMID:31947532 PMID:31980526 PMID:31993549 PMID:32009526 PMID:32015373 PMID:32041611 PMID:32044282 PMID:32088152 PMID:32104752 PMID:32113782 PMID:32143996 PMID:32154576 PMID:32163632 PMID:32165824 PMID:32220565 PMID:32231684 PMID:32242544 PMID:32331935 PMID:32423031 PMID:32443900 PMID:32466883 PMID:32489792 PMID:32522009 PMID:32581083 PMID:32629184 PMID:32660911 PMID:32675277 PMID:32695144 PMID:32706999 PMID:32710294 PMID:32715071 PMID:32719484 PMID:32759540 PMID:32770674 PMID:32793292 PMID:32800790 PMID:32820175 PMID:32829317 PMID:32878475 PMID:32892247 PMID:32897268 PMID:32906206 PMID:32922439 PMID:32977124 PMID:32989269 PMID:33020668 PMID:33027386 PMID:33032808 PMID:33069457 PMID:33079599 PMID:33087929 PMID:33093846 PMID:33111339 PMID:33194883 PMID:33211673 PMID:33226606 PMID:33231818 PMID:33258288 PMID:33269076 PMID:33303402 PMID:33391333 PMID:33418990 PMID:33454241 PMID:33508743 PMID:33533259 PMID:33547002 PMID:33569482 PMID:33599434 PMID:33732287 PMID:33740630 PMID:33746137 PMID:33794673 PMID:33807407 PMID:33854068 PMID:33890362 PMID:33892292 PMID:33955087 PMID:33975813 PMID:33992589 PMID:33994402 PMID:34011801 PMID:34029164 PMID:34037665 PMID:34040191 PMID:34074024 PMID:34167030 PMID:34176852 PMID:34220717 PMID:34234266 PMID:34249980 PMID:34297352 PMID:34321884 PMID:34363016 PMID:34379075 PMID:34407635 PMID:34426522 PMID:34428338 PMID:34456049 PMID:34456200 PMID:34496902 PMID:34511120 PMID:34521694 PMID:34526433 PMID:34570182 PMID:34573395 PMID:34615865 PMID:34834584 PMID:34869944 PMID:34906454 PMID:34906840 PMID:34970301 PMID:34998859 PMID:35047021 PMID:35052492 PMID:35076666 PMID:35101175 PMID:35130036 PMID:35137788 PMID:35177841 PMID:35222550 PMID:35249492 PMID:35274909 PMID:35319679 PMID:35339733 PMID:35379577 PMID:35379578 PMID:35460704 PMID:35474963 PMID:35480308 PMID:35535697 PMID:35568682 PMID:35626767 PMID:35631530 PMID:35741760 PMID:35753512 PMID:35795214 PMID:35882565 PMID:35910211 PMID:35913489 PMID:35928446 PMID:35929461 PMID:35999587 PMID:36011335 PMID:36105085 PMID:36172582 PMID:36184534 PMID:36226792 PMID:36229376 PMID:36229885 PMID:36267056 PMID:36325061 PMID:36422519 PMID:36446894 PMID:36499307 PMID:36507290 PMID:36727130 PMID:36769678 PMID:36901902 PMID:36960729 PMID:36973604 PMID:37119068 PMID:37129685 PMID:37397863 PMID:37719435 PMID:37848354 PMID:220236128 PMID:283553356 PMID:329777124 More...
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Ldlrap1
low density lipoprotein receptor adaptor protein 1
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar
PMID:4351242 PMID:9536098 PMID:11326085 PMID:12016260 PMID:12464675 PMID:12788851 PMID:12958143 PMID:15485476 PMID:16199547 PMID:17576681 PMID:20124734 PMID:21872251 PMID:22157599 PMID:23510778 PMID:24033266 PMID:25647241 PMID:25741868 PMID:25911074 PMID:27247956 PMID:28353356 PMID:28492532 PMID:28965616 PMID:29245109 PMID:30318064 PMID:32041611 PMID:32770674 PMID:33116287 PMID:34037665 PMID:34389451 More...
NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
G
Pcsk9
proprotein convertase subtilisin/kexin type 9
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition
ClinVar
PMID:2246507 PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:14727179 PMID:15099351 PMID:15166014 PMID:15358785 PMID:15654334 PMID:15772090 PMID:15893176 PMID:16183066 PMID:16211558 PMID:16224054 PMID:16314194 PMID:16424354 PMID:16465619 PMID:16554528 PMID:16571601 PMID:16777760 PMID:16909389 PMID:16912035 PMID:17094996 PMID:17140581 PMID:17170371 PMID:17316651 PMID:17380167 PMID:17435765 PMID:17461796 PMID:17502126 PMID:17765244 PMID:17765246 PMID:17804797 PMID:17921436 PMID:17971861 PMID:18028451 PMID:18039650 PMID:18197702 PMID:18250299 PMID:18262190 PMID:18266662 PMID:18300938 PMID:18354102 PMID:18436227 PMID:18559913 PMID:18631360 PMID:18710658 PMID:18718593 PMID:18799458 PMID:19001363 PMID:19022446 PMID:19081568 PMID:19191301 PMID:19249440 PMID:19351729 PMID:19571328 PMID:19762784 PMID:19768174 PMID:19797716 PMID:19917273 PMID:20006333 PMID:20031607 PMID:20172854 PMID:20538126 PMID:20579540 PMID:20623344 PMID:20959675 PMID:21146822 PMID:21147780 PMID:21376320 PMID:21502677 PMID:21722902 PMID:21943799 PMID:22095935 PMID:22344438 PMID:22417841 PMID:22683120 PMID:22875854 PMID:22923420 PMID:22995991 PMID:23064986 PMID:23095242 PMID:23105118 PMID:23247049 PMID:23298392 PMID:23375686 PMID:23386946 PMID:23535506 PMID:23555291 PMID:23663650 PMID:23680767 PMID:23726366 PMID:23743349 PMID:23935525 PMID:23997648 PMID:24033266 PMID:24115837 PMID:24252255 PMID:24278757 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24785115 PMID:24793346 PMID:24808179 PMID:24859021 PMID:25014035 PMID:25046268 PMID:25278291 PMID:25412415 PMID:25525159 PMID:25600226 PMID:25741868 PMID:25744035 PMID:25904937 PMID:25962062 PMID:25985138 PMID:26020417 PMID:26036859 PMID:26049403 PMID:26195630 PMID:26332594 PMID:26343872 PMID:26374825 PMID:26467025 PMID:26541928 PMID:26546829 PMID:26586530 PMID:26632531 PMID:26633542 PMID:26636822 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26902539 PMID:26911352 PMID:26937405 PMID:27050191 PMID:27135400 PMID:27153395 PMID:27206942 PMID:27218270 PMID:27280970 PMID:27422940 PMID:27516387 PMID:27575716 PMID:27765764 PMID:27896130 PMID:27919364 PMID:27998977 PMID:28008010 PMID:28166811 PMID:28179607 PMID:28235710 PMID:28302345 PMID:28323660 PMID:28349888 PMID:28360401 PMID:28438747 PMID:28492532 PMID:28521186 PMID:28587771 PMID:28768753 PMID:28777095 PMID:28784313 PMID:28965616 PMID:28994502 PMID:29036232 PMID:29083407 PMID:29127338 PMID:29192238 PMID:29259136 PMID:29261184 PMID:29386597 PMID:29399563 PMID:29438441 PMID:29459468 PMID:29572815 PMID:29593013 PMID:29724976 PMID:29748315 PMID:29802317 PMID:29982529 PMID:29997226 PMID:30146126 PMID:30241732 PMID:30270359 PMID:30293936 PMID:30487145 PMID:30526649 PMID:30710474 PMID:30726226 PMID:30779729 PMID:30795984 PMID:30827231 PMID:30899674 PMID:30971288 PMID:31106297 PMID:31217584 PMID:31353810 PMID:31386798 PMID:31419281 PMID:31491741 PMID:31518966 PMID:31553664 PMID:31589614 PMID:31949048 PMID:31993549 PMID:32009526 PMID:32044282 PMID:32058034 PMID:32226016 PMID:32640185 PMID:32719484 PMID:33091218 PMID:33111339 PMID:33147992 PMID:33173529 PMID:33217533 PMID:33231818 PMID:33258288 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33533259 PMID:33642439 PMID:33955087 PMID:34037665 PMID:34074024 PMID:34297352 PMID:34341098 PMID:34407635 PMID:34521694 PMID:34526433 PMID:34573395 PMID:34739847 PMID:34782856 PMID:34948399 PMID:35047021 PMID:35177841 PMID:35470684 PMID:35910211 PMID:35913489 PMID:35929461 PMID:36087353 PMID:36142332 PMID:36187800 PMID:36499307 PMID:36752612 PMID:36834740 PMID:37469559 More...
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
G
Pon2
paraoxonase 2
ISO
DNA:missense mutation:cds:p.S311C (human)
RGD
PMID:16776623
RGD:1642625
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
G
Ppp1r17
protein phosphatase 1, regulatory subunit 17
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603
G
Rbp4
retinol binding protein 4
disease_progression
ISO
associated with myocardial infarction; protein:decreased expression:blood serum (human)
RGD
PMID:24720534
RGD:329845858
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
G
Serpine1
serpin family E member 1
ISO
protein:increased expression:serum:
RGD
PMID:19004443
RGD:13207334
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar
PMID:1998642 PMID:25741868 PMID:28492532
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
G
Stap1
signal transducing adaptor family member 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar
PMID:26036859
NCBI chr14:21,950,466...21,981,395
Ensembl chr14:21,952,496...21,981,245
G
Timm29
translocase of inner mitochondrial membrane 29
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar
PMID:28492532
NCBI chr 8:20,145,264...20,148,233
G
Tmed1
transmembrane p24 trafficking protein 1
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar
PMID:28492532
NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677
G
Yipf2
Yip1 domain family, member 2
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia
ClinVar
PMID:28492532
NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
G
Apob
apolipoprotein B
ISO
ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B
ClinVar
PMID:174884 PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1770316 PMID:1793440 PMID:1977310 PMID:2280177 PMID:2375782 PMID:2563166 PMID:3477815 PMID:3771801 PMID:7627691 PMID:7670940 PMID:7882518 PMID:7883971 PMID:8141833 PMID:8254047 PMID:8318509 PMID:8318993 PMID:8371062 PMID:8478017 PMID:8723684 PMID:8831935 PMID:8889592 PMID:8931699 PMID:8960785 PMID:9081691 PMID:9104431 PMID:9105560 PMID:9191540 PMID:9254062 PMID:9259199 PMID:9339363 PMID:9486979 PMID:9490296 PMID:9568749 PMID:9603795 PMID:9654205 PMID:9702952 PMID:9925662 PMID:10208479 PMID:10388479 PMID:10529757 PMID:10735632 PMID:10952765 PMID:11031227 PMID:11115503 PMID:11137107 PMID:11238294 PMID:11494965 PMID:11781700 PMID:11810272 PMID:11833852 PMID:11941481 PMID:12124991 PMID:12872264 PMID:14508510 PMID:14732481 PMID:15135245 PMID:15514099 PMID:15797858 PMID:15805152 PMID:16199547 PMID:16250003 PMID:17046772 PMID:17087781 PMID:17142622 PMID:17160438 PMID:17539906 PMID:17570373 PMID:17588943 PMID:17595251 PMID:17765246 PMID:17964958 PMID:17968143 PMID:18022922 PMID:18028451 PMID:18096825 PMID:18160469 PMID:18222178 PMID:18279815 PMID:18325181 PMID:18355452 PMID:18492086 PMID:18700895 PMID:18710658 PMID:19602640 PMID:20032471 PMID:20145306 PMID:20167924 PMID:20236128 PMID:20506408 PMID:20538126 PMID:20592474 PMID:20657596 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20981092 PMID:21033204 PMID:21059979 PMID:21303902 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 PMID:21513517 PMID:21520333 PMID:21657943 PMID:21722902 PMID:21862702 PMID:21868016 PMID:21919778 PMID:22095935 PMID:22244043 PMID:22256951 PMID:22294733 PMID:22353362 PMID:22408029 PMID:22534770 PMID:22698793 PMID:22863191 PMID:22883975 PMID:22923420 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23593297 PMID:23680767 PMID:23685560 PMID:23775634 PMID:23833242 PMID:23936638 PMID:24033266 PMID:24106285 PMID:24234650 PMID:24404629 PMID:24498611 PMID:24503134 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24627126 PMID:24784157 PMID:24892279 PMID:24956927 PMID:24987033 PMID:25430706 PMID:25461735 PMID:25647241 PMID:25712136 PMID:25741868 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26415676 PMID:26467025 PMID:26516186 PMID:26546829 PMID:26612772 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26892515 PMID:27153395 PMID:27206935 PMID:27206948 PMID:27365461 PMID:27497240 PMID:27516387 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27824480 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28405938 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28733173 PMID:28895539 PMID:28953935 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29192238 PMID:29233637 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29459468 PMID:29540175 PMID:29555771 PMID:29572815 PMID:29598884 PMID:29870584 PMID:30030251 PMID:30122538 PMID:30206226 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 PMID:30333156 PMID:30348779 PMID:30420299 PMID:30526649 PMID:30586733 PMID:30592178 PMID:30681615 PMID:30694319 PMID:30710474 PMID:30782561 PMID:30842500 PMID:30971288 PMID:31028937 PMID:31106297 PMID:31135820 PMID:31150472 PMID:31153816 PMID:31345425 PMID:31371270 PMID:31447099 PMID:31570899 PMID:31624253 PMID:31893465 PMID:31980526 PMID:32009526 PMID:32044282 PMID:32101375 PMID:32115487 PMID:32355288 PMID:32591292 PMID:32625235 PMID:32702746 PMID:32706999 PMID:32719484 PMID:32770674 PMID:33006316 PMID:33020668 PMID:33059327 PMID:33111339 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33489595 PMID:33508743 PMID:33519890 PMID:33740630 PMID:33875564 PMID:34037665 PMID:34297352 PMID:34426522 PMID:34445196 PMID:34456049 PMID:34650182 PMID:34875256 PMID:35047021 PMID:35052492 PMID:35276540 PMID:35339733 PMID:35741760 PMID:35761384 PMID:35910211 PMID:35913489 PMID:36105085 PMID:36190978 PMID:36196022 PMID:36499307 PMID:36555767 PMID:36973604 PMID:37593691 More...
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B
ClinVar
PMID:7616128 PMID:7709162 PMID:9039985 PMID:9259195 PMID:9654205 PMID:10208490 PMID:15256764 PMID:17142622 PMID:17765246 PMID:18263977 PMID:19318025 PMID:20145306 PMID:20538126 PMID:20809525 PMID:21310417 PMID:21382890 PMID:22390909 PMID:22698793 PMID:23375686 PMID:25461735 PMID:25487149 PMID:25525159 PMID:25741868 PMID:25846081 PMID:26467025 PMID:27680772 PMID:28235710 PMID:28492532 PMID:28645073 PMID:29261184 PMID:30592178 PMID:31345425 PMID:31727422 PMID:32331935 PMID:32522009 PMID:32719484 PMID:32770674 PMID:33087929 PMID:33269076 PMID:33418990 PMID:33740630 PMID:34037665 More...
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lpl
lipoprotein lipase
ISO
ClinVar Annotator: match by term: Hyperlipoproteinemia type 1
ClinVar
PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 PMID:1512512 PMID:1562620 PMID:1576758 PMID:1598907 PMID:1619366 PMID:1639392 PMID:1674945 PMID:1702428 PMID:1730727 PMID:1731801 PMID:1737848 PMID:1752947 PMID:1872917 PMID:1907278 PMID:1969408 PMID:1975597 PMID:2038366 PMID:2394828 PMID:2914262 PMID:6645961 PMID:7607318 PMID:7647785 PMID:7906986 PMID:8096693 PMID:8099055 PMID:8199176 PMID:8541837 PMID:8732773 PMID:8808493 PMID:8843465 PMID:8872057 PMID:8956048 PMID:8973094 PMID:9279761 PMID:9401010 PMID:9811888 PMID:10359734 PMID:10364086 PMID:10407505 PMID:10431049 PMID:10517255 PMID:10560236 PMID:10619999 PMID:10735636 PMID:11334614 PMID:11730817 PMID:11893776 PMID:12204001 PMID:12655575 PMID:12905705 PMID:15877202 PMID:16174715 PMID:16199547 PMID:16278884 PMID:16431216 PMID:16972177 PMID:17476032 PMID:17560523 PMID:17717288 PMID:18068174 PMID:18350203 PMID:18649389 PMID:18922999 PMID:19034041 PMID:19335919 PMID:20650961 PMID:21146168 PMID:21159338 PMID:22095987 PMID:22129523 PMID:22239554 PMID:22691586 PMID:23212406 PMID:23246289 PMID:23357145 PMID:23484243 PMID:24033266 PMID:24212298 PMID:24291057 PMID:24366202 PMID:24497850 PMID:24503134 PMID:24507774 PMID:24591733 PMID:24627108 PMID:24646025 PMID:24747307 PMID:24793350 PMID:25741868 PMID:25966443 PMID:26079787 PMID:26156051 PMID:26337181 PMID:26342331 PMID:26892137 PMID:26975783 PMID:27055971 PMID:27097985 PMID:27142713 PMID:27150867 PMID:27206937 PMID:27573733 PMID:28008009 PMID:28267856 PMID:28438574 PMID:28492532 PMID:28502509 PMID:28606150 PMID:28695157 PMID:28951076 PMID:28958672 PMID:29054425 PMID:29153744 PMID:29288010 PMID:29431110 PMID:29748148 PMID:29921298 PMID:30150141 PMID:30210108 PMID:30352774 PMID:30389453 PMID:30420299 PMID:30559189 PMID:31153847 PMID:31352695 PMID:31589614 PMID:31619059 PMID:31669931 PMID:31901151 PMID:32041611 PMID:32472350 PMID:33217533 PMID:33303402 PMID:33879184 PMID:34363016 PMID:34635320 PMID:35837325 PMID:36555767 More...
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Abca1
ATP binding cassette subfamily A member 1
treatment
IEP
RGD
PMID:17026988 PMID:23185768
RGD:1598533 , RGD:21408557
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
G
Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP::2677G>T/A(rs2032582)(human)
CTD RGD
PMID:24502637 PMID:26922556
RGD:11574565
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Abcg8
ATP binding cassette subfamily G member 8
susceptibility
ISO
sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A
RGD
PMID:12671028
RGD:1601097
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
G
Ada
adenosine deaminase
treatment
IEP
RGD
PMID:30679022
RGD:152998957
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Adipoq
adiponectin, C1Q and collagen domain containing
treatment
IEP
RGD
PMID:24308182
RGD:8695929
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16027735
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Adrb3
adrenoceptor beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16027735
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
G
Alb
albumin
IAGP
DNA:mutation
RGD
PMID:6468510
RGD:1601160
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Angptl4
angiopoietin-like 4
ISO
RGD
PMID:15837923 PMID:12401877
RGD:1625354 , RGD:1578349
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
G
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17546600
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
G
Apob
apolipoprotein B
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17658632 PMID:7627691 PMID:15716585
RGD:1578419 , RGD:14401726
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
IDA
RGD
PMID:11116209
RGD:1626277
NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
G
Apoc2
apolipoprotein C2
susceptibility
ISO
RGD
PMID:1782747
RGD:1599175
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
G
Apoc3
apolipoprotein C3
treatment
ISO
RGD
PMID:23542898
RGD:10054091
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Apoe
apolipoprotein E
treatment
ISO IMP IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11947894 PMID:12871831 PMID:20530721 PMID:20937366 PMID:15118671 PMID:30796231 PMID:29459263 PMID:22762542 More...
RGD:1331525 , RGD:150521536 , RGD:13703129 , RGD:6903856
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:15219807
RGD:1601321
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
G
Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:19525846
RGD:11528561
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:21485068
RGD:5490594
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Crp
C-reactive protein
IEP
protein:increased expression:serum:
RGD
PMID:24308182
RGD:8695929
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
IEP
RGD
PMID:23002367
RGD:14700877
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
G
F3
coagulation factor III, tissue factor
ISO
protein:increased expression:plasma
RGD
PMID:8914465
RGD:11060253
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
G
F7
coagulation factor VII
IEP
protein:increased expression:plasma (rat)
RGD
PMID:11776312
RGD:2312300
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
G
Gcg
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:69995
NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
G
Gfpt1
glutamine fructose-6-phosphate transaminase 1
IEP
mRNA:increased expression:gastrocnemius
RGD
PMID:16555472
RGD:1624365
NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
G
Gnb3
G protein subunit beta 3
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human)
RGD
PMID:17161225
RGD:2313205
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
IEP
mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats
RGD
PMID:14697232
RGD:1625074
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
associated with advanced age and Diabetes Mellitus, Type 2 (MeSH:D003924)
RGD
PMID:15992611
RGD:1626649
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
G
Irf9
interferon regulatory factor 9
IEP
associated with acute pancreatitis;protein:increased expression:kidney
RGD
PMID:32462510
RGD:125093744
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
G
Irs1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10591678
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Itgam
integrin subunit alpha M
exacerbates
ISO
protein:increased expression:monocyte, macrophage (human) protein:increased expression:granulocyte (human)
RGD
PMID:18788855 PMID:17869258
RGD:329901821 , RGD:329901839
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
G
Kl
Klotho
IDA
RGD
PMID:10892340
RGD:1581732
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
G
Lcat
lecithin cholesterol acyltransferase
IDA
RGD
PMID:12935429
RGD:1581787
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
G
Ldlr
low density lipoprotein receptor
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11947894 PMID:25619500 PMID:29459263
RGD:13703129
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Ldlrem1Dlli
low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli
IMP
RGD
PMID:29459263
RGD:13703129
G
Lep
leptin
IEP
mRNA:decreased expression:liver, adipose tissue (rat)
RGD
PMID:17671736
RGD:10053616
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25222487 PMID:33345901
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lipc
lipase C, hepatic type
IDA ISO
protein:reduced expression:plasma (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1883393 PMID:12935429
RGD:1581787
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
G
Lmx1b
LIM homeobox transcription factor 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20199424
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
G
Lpl
lipoprotein lipase
treatment
ISO IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17658632 PMID:29931882
RGD:13794383
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Mir125a
microRNA 125a
ISO
RGD
PMID:31988048
RGD:21403676
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
G
Mir126b
microRNA 126b
ameliorates
ISO
RGD
PMID:24584117
RGD:401850548
NCBI chr 3:9,415,087...9,415,159
G
Mmp9
matrix metallopeptidase 9
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:16490430
RGD:1642030
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mttp
microsomal triglyceride transfer protein
IEP
RGD
PMID:12191589
RGD:1625489
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
G
Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21285402
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
G
Nos3
nitric oxide synthase 3
IEP ISO
protein:increased phosphorylation:aorta CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11457755 PMID:17895290
RGD:2292129
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Plau
plasminogen activator, urokinase
ISO
associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse)
RGD
PMID:22119245
RGD:6903200
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21640707
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
G
Ppargc1b
PPARG coactivator 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17932310
NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
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Ppbp
pro-platelet basic protein
ISO
associated with menopause; mRNA,protein:increased expression:peripheral blood mononuclear cell ,plasma
RGD
PMID:35734636
RGD:401794436
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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Prmt7
protein arginine methyltransferase 7
ISO
ClinVar Annotator: match by term: Hyperlipidemia
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
G
Rgn
regucalcin
IMP
RGD
PMID:15375596
RGD:9590273
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
G
Sdc1
syndecan 1
IMP
RGD
PMID:17403197
RGD:1643125
NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
G
Serpinc1
serpin family C member 1
IEP
protein:increased expression:plasma
RGD
PMID:17283885
RGD:11035268
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
G
Serpinf2
serpin family F member 2
IEP
RGD
PMID:2313941
RGD:1625536
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
G
Shc1
SHC adaptor protein 1
IEP
RGD
PMID:15044008
RGD:1643177
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
G
Slc27a1
solute carrier family 27 member 1
IEP
protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle
RGD
PMID:15281014
RGD:1642794
NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
G
Smarcd1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
IEP
mRNA:decreased expression:thoracic aorta
RGD
PMID:24615205
RGD:9586357
NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
G
Soat1
sterol O-acyltransferase 1
ISO
DNA:Missense mutations, haplotype:CDS:multiple (mouse)
RGD
PMID:22022387
RGD:126925202
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
G
Srebf1
sterol regulatory element binding transcription factor 1
treatment
ISO
RGD
PMID:29197188
RGD:401842366
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Tfpi
tissue factor pathway inhibitor
ISO
protein:increased expression:plasma:
RGD
PMID:8914465
RGD:11060253
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
G
Tgfb1
transforming growth factor, beta 1
treatment
IDA IEP
associated with Chronic Kidney Failure;mRNA:increased expression:kidney associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex
RGD
PMID:16834981 PMID:19001732
RGD:1601559 , RGD:2306735
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Vcam1
vascular cell adhesion molecule 1
IEP
RGD
PMID:18159007
RGD:2313110
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
G
Vldlr
very low density lipoprotein receptor
ISO
RGD
PMID:10985956
RGD:1625570
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
G
Apob
apolipoprotein B
ISO
ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1731805 PMID:1770316 PMID:1793440 PMID:1939657 PMID:1977310 PMID:2280177 PMID:2375782 PMID:2563166 PMID:2903181 PMID:2909827 PMID:3477815 PMID:3771801 PMID:3975124 PMID:4031057 PMID:7229035 PMID:7627691 PMID:7670940 PMID:7882518 PMID:7883971 PMID:8141833 PMID:8254047 PMID:8318509 PMID:8318993 PMID:8371062 PMID:8478017 PMID:8723684 PMID:8831935 PMID:8889592 PMID:8931699 PMID:8960785 PMID:9081691 PMID:9104431 PMID:9105560 PMID:9191540 PMID:9254062 PMID:9259199 PMID:9339363 PMID:9486979 PMID:9490296 PMID:9568749 PMID:9603795 PMID:9654205 PMID:9702952 PMID:9925662 PMID:10208479 PMID:10388479 PMID:10529757 PMID:10735632 PMID:10952765 PMID:11031227 PMID:11115503 PMID:11137107 PMID:11238294 PMID:11494965 PMID:11781700 PMID:11810272 PMID:11833852 PMID:11941481 PMID:12124991 PMID:12655413 PMID:12872264 PMID:14508510 PMID:14732481 PMID:15135245 PMID:15514099 PMID:15797858 PMID:15805152 PMID:15984016 PMID:16199547 PMID:16250003 PMID:17043676 PMID:17046772 PMID:17087781 PMID:17142622 PMID:17160438 PMID:17539906 PMID:17570373 PMID:17588943 PMID:17595251 PMID:17765246 PMID:17964958 PMID:17968143 PMID:18022922 PMID:18028451 PMID:18096825 PMID:18160469 PMID:18222178 PMID:18279815 PMID:18325181 PMID:18355452 PMID:18492086 PMID:18700895 PMID:18710658 PMID:19602640 PMID:20032471 PMID:20145306 PMID:20167924 PMID:20236128 PMID:20506408 PMID:20538126 PMID:20592474 PMID:20657596 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20981092 PMID:21033204 PMID:21059979 PMID:21303902 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 PMID:21513517 PMID:21520333 PMID:21657943 PMID:21722902 PMID:21862702 PMID:21868016 PMID:21919778 PMID:22095935 PMID:22244043 PMID:22256951 PMID:22294733 PMID:22353362 PMID:22408029 PMID:22534770 PMID:22544856 PMID:22698793 PMID:22855658 PMID:22863191 PMID:22883975 PMID:22923420 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23593297 PMID:23680767 PMID:23685560 PMID:23775634 PMID:23833242 PMID:23936638 PMID:24033266 PMID:24106285 PMID:24234650 PMID:24404629 PMID:24498611 PMID:24503134 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24627126 PMID:24751931 PMID:24784157 PMID:24892279 PMID:24956927 PMID:24987033 PMID:25335495 PMID:25430706 PMID:25461735 PMID:25647241 PMID:25712136 PMID:25741868 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26415676 PMID:26467025 PMID:26516186 PMID:26546829 PMID:26612772 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26892515 PMID:27153395 PMID:27206935 PMID:27206948 PMID:27365461 PMID:27497240 PMID:27516387 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27824480 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28405938 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28518168 PMID:28733173 PMID:28895539 PMID:28953935 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29192238 PMID:29233637 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29459468 PMID:29540175 PMID:29555771 PMID:29572815 PMID:29598884 PMID:29870584 PMID:30030251 PMID:30056620 PMID:30122538 PMID:30206226 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 PMID:30333156 PMID:30348779 PMID:30420299 PMID:30526649 PMID:30586733 PMID:30592178 PMID:30681615 PMID:30694319 PMID:30710474 PMID:30782561 PMID:30842500 PMID:30971288 PMID:31028937 PMID:31106297 PMID:31135820 PMID:31150472 PMID:31153816 PMID:31345425 PMID:31371270 PMID:31447099 PMID:31570899 PMID:31624253 PMID:31893465 PMID:31980526 PMID:32009526 PMID:32044282 PMID:32101375 PMID:32115487 PMID:32355288 PMID:32461654 PMID:32591292 PMID:32625235 PMID:32702746 PMID:32706999 PMID:32719484 PMID:32770674 PMID:33006316 PMID:33020668 PMID:33059327 PMID:33111339 PMID:33207932 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33489595 PMID:33508743 PMID:33519890 PMID:33740630 PMID:33875564 PMID:34037665 PMID:34297352 PMID:34426522 PMID:34445196 PMID:34456049 PMID:34650182 PMID:34875256 PMID:35047021 PMID:35052492 PMID:35276540 PMID:35339733 PMID:35741760 PMID:35761384 PMID:35910211 PMID:35913489 PMID:36105085 PMID:36190978 PMID:36196022 PMID:36499307 PMID:36555767 PMID:36973604 PMID:37593691 More...
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Angptl3
angiopoietin-like 3
ISO
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 PMID:28492532 PMID:32041611 More...
NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
G
Apob
apolipoprotein B
ISS
OMIM:605019
MouseDO
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Dock7
dedicator of cytokinesis 7
ISO
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
ClinVar
PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 PMID:28492532 PMID:32041611 More...
NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
G
Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2567736 PMID:2843815 PMID:3473077
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Apolipoprotein B deficiency
ClinVar
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 PMID:8533758 PMID:8939939 PMID:9536098 PMID:9671739 PMID:10446076 PMID:10679949 PMID:10946006 PMID:12630961 PMID:16199547 PMID:16721486 PMID:17275380 PMID:17576681 PMID:18027103 PMID:18611256 PMID:20592474 PMID:21394827 PMID:22236406 PMID:23043934 PMID:23475612 PMID:24842304 PMID:25108285 PMID:25741868 PMID:27170061 PMID:27271787 PMID:27487388 PMID:27578136 PMID:28492532 PMID:28818680 PMID:30522860 PMID:32041611 PMID:33258201 More...
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Lmf1
lipase maturation factor 1
ISO
ClinVar Annotator: match by term: LMF1-related condition | ClinVar Annotator: match by term: Lipase deficiency, combined CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17994020 PMID:19820022 PMID:22135386 PMID:22239554 PMID:24909692 PMID:25741868 PMID:28492532 PMID:28991257 PMID:29910226 PMID:30037590 PMID:30172716 PMID:30337590 PMID:30420299 PMID:31619059 PMID:31980526 PMID:32041611 PMID:32190547 PMID:33303402 More...
NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
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Apoa5
apolipoprotein A5
ISO
ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
ClinVar
PMID:25741868
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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Apoc2
apolipoprotein C2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD ClinVar
PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 PMID:2477392 PMID:2592354 PMID:3225819 PMID:3263393 PMID:3467353 PMID:3680515 PMID:3944267 PMID:3944271 PMID:7815420 PMID:7923858 PMID:8323539 PMID:8490626 PMID:12783430 PMID:22135386 PMID:24788417 PMID:24886863 PMID:25741868 PMID:25910212 PMID:28492532 PMID:29100061 PMID:30197986 PMID:30686043 PMID:30793526 PMID:32861330 PMID:33111339 PMID:33116287 More...
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
G
Lpl
lipoprotein lipase
ISO ISS
ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I OMIM:238600 CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.D156G (human)
ClinVar MouseDO CTD OMIM RGD
PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 PMID:1512512 PMID:1521525 PMID:1530621 PMID:1562620 PMID:1576758 PMID:1598907 PMID:1619366 PMID:1639392 PMID:1674945 PMID:1702428 PMID:1730727 PMID:1731801 PMID:1737848 PMID:1752947 PMID:1833777 PMID:1872917 PMID:1907278 PMID:1937490 PMID:1969408 PMID:1975597 PMID:2010533 PMID:2038366 PMID:2110364 PMID:2121025 PMID:2294743 PMID:2349938 PMID:2394828 PMID:2536938 PMID:2914262 PMID:6645961 PMID:7607318 PMID:7647785 PMID:7818530 PMID:7906986 PMID:8077845 PMID:8096693 PMID:8099055 PMID:8135797 PMID:8199176 PMID:8228642 PMID:8288243 PMID:8325986 PMID:8486765 PMID:8541837 PMID:8567671 PMID:8732773 PMID:8808493 PMID:8843465 PMID:8858123 PMID:8872057 PMID:8956048 PMID:8973094 PMID:9225235 PMID:9279761 PMID:9401010 PMID:9550358 PMID:9714430 PMID:9811888 PMID:10359734 PMID:10364086 PMID:10407505 PMID:10431049 PMID:10517255 PMID:10560236 PMID:10619999 PMID:10735636 PMID:11134145 PMID:11260209 PMID:11334614 PMID:11730817 PMID:11893776 PMID:12204001 PMID:12655575 PMID:12905705 PMID:15840743 PMID:15877202 PMID:16174715 PMID:16199547 PMID:16278884 PMID:16431216 PMID:16972177 PMID:17476032 PMID:17560523 PMID:17717288 PMID:18068174 PMID:18350203 PMID:18649389 PMID:18922999 PMID:19034041 PMID:19335919 PMID:20650961 PMID:21146168 PMID:21159338 PMID:22095987 PMID:22129523 PMID:22239554 PMID:22691586 PMID:23212406 PMID:23246289 PMID:23357145 PMID:23484243 PMID:24033266 PMID:24212298 PMID:24291057 PMID:24366202 PMID:24497850 PMID:24503134 PMID:24507774 PMID:24591733 PMID:24627108 PMID:24646025 PMID:24747307 PMID:24793350 PMID:25525159 PMID:25741868 PMID:25966443 PMID:26079787 PMID:26156051 PMID:26337181 PMID:26342331 PMID:26892137 PMID:26975783 PMID:27055971 PMID:27097985 PMID:27142713 PMID:27150867 PMID:27153815 PMID:27206937 PMID:27573733 PMID:28008009 PMID:28267856 PMID:28438574 PMID:28492532 PMID:28502509 PMID:28606150 PMID:28695157 PMID:28951076 PMID:28958672 PMID:29054425 PMID:29153744 PMID:29288010 PMID:29431110 PMID:29479812 PMID:29748148 PMID:29921298 PMID:30150141 PMID:30210108 PMID:30333156 PMID:30352774 PMID:30389453 PMID:30420299 PMID:30559189 PMID:31153847 PMID:31352695 PMID:31589614 PMID:31619059 PMID:31669931 PMID:31901151 PMID:32041611 PMID:32472350 PMID:33217533 PMID:33303402 PMID:33879184 PMID:34363016 PMID:34635320 PMID:35309119 PMID:35837325 PMID:36555767 PMID:16431216 PMID:9973300 PMID:1907278 More...
RGD:1580533 , RGD:1556752 , RGD:1302536
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Akt2
AKT serine/threonine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19793595
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
G
Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19793595
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Cidec
cell death-inducing DFFA-like effector c
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
G
Lipe
lipase E, hormone sensitive type
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
G
Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial DNA:missense mutations:cds:multiple (human)
CTD ClinVar RGD
PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12702809 PMID:12784312 PMID:12844477 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15298354 PMID:15475483 PMID:15531479 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16241930 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16809772 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18182166 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19793595 PMID:19859838 PMID:19875404 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21346069 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21883346 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22918509 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25025039 PMID:25163546 PMID:25214167 PMID:25351510 PMID:25367549 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26165385 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29040816 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29253866 PMID:29255176 PMID:29438482 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30847666 PMID:30871747 PMID:30954027 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32455078 PMID:32475984 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32818388 PMID:32880476 PMID:33258288 PMID:33407844 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33916827 PMID:33963534 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37679847 PMID:10655060 More...
RGD:12791019
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Plin1
perilipin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
G
Pparg
peroxisome proliferator-activated receptor gamma
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:19793595
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
G
Zmpste24
zinc metallopeptidase STE24
ISS
OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238
MouseDO
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
G
Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan
OMIM ClinVar
PMID:2007407 PMID:2270059 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11792811 PMID:11799477 PMID:11897440 PMID:12015247 PMID:12075506 PMID:12196663 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12702809 PMID:12729796 PMID:12784312 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15219508 PMID:15298354 PMID:15475483 PMID:15531479 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16218190 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16636128 PMID:16671095 PMID:16715312 PMID:16809772 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18182166 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19169477 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19859838 PMID:19875404 PMID:19933576 PMID:20041886 PMID:20074070 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21346069 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21883346 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23062543 PMID:23183350 PMID:23243001 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25025039 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25982065 PMID:26027246 PMID:26084686 PMID:26165385 PMID:26183555 PMID:26220970 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29040816 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30847666 PMID:30871747 PMID:30954027 PMID:31019283 PMID:31194872 PMID:31293201 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32455078 PMID:32475984 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32818388 PMID:32846814 PMID:32880476 PMID:33258288 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33916827 PMID:33963534 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37679847 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy
ClinVar
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
G
Pparg
peroxisome proliferator-activated receptor gamma
ISO
ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy
OMIM ClinVar
PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 PMID:10690291 PMID:10851250 PMID:11788685 PMID:12453919 PMID:12663460 PMID:14569127 PMID:14616762 PMID:14671186 PMID:15254591 PMID:17003330 PMID:17299075 PMID:17356052 PMID:21479595 PMID:22461176 PMID:22539598 PMID:25157153 PMID:25741868 PMID:27749844 PMID:28492532 PMID:28641778 PMID:32041611 PMID:33502018 More...
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
G
Plin1
perilipin 1
ISO
ClinVar Annotator: match by term: PLIN1-related condition | ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy
OMIM ClinVar
PMID:21345103 PMID:25114292 PMID:25741868 PMID:28492532 PMID:29747582
NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
G
Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
OMIM ClinVar
PMID:18654663 PMID:20049731 PMID:25741868
NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
G
Cela2a
chymotrypsin like elastase 2A
ISO
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS
ClinVar
PMID:31358993
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
G
Lipe
lipase E, hormone sensitive type
ISO
ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy
OMIM ClinVar
PMID:25741868 PMID:27862896 PMID:28492532
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
G
Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
OMIM CTD ClinVar
PMID:11739396 PMID:18211975 PMID:18237401 PMID:25356970 PMID:25741868 PMID:25898808 PMID:34643546 More...
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Adra2a
adrenoceptor alpha 2A
ISO
OMIM
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
G
Plaat3
phospholipase A and acyltransferase 3
ISO
OMIM
NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667
G
Asah1
N-acylsphingosine amidohydrolase 1
ISO ISS
OMIM:228000 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency
OMIM MouseDO CTD ClinVar
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 PMID:11241842 PMID:12638942 PMID:16199547 PMID:16951918 PMID:17576681 PMID:20560208 PMID:21893389 PMID:22565078 PMID:23681708 PMID:23707712 PMID:24033266 PMID:24164096 PMID:24355074 PMID:24614645 PMID:25741868 PMID:26075876 PMID:26467025 PMID:26945816 PMID:27411168 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29140481 PMID:29358611 PMID:29379059 PMID:29692406 PMID:30525581 PMID:30815900 PMID:31680123 PMID:32449975 PMID:32627310 PMID:32706452 PMID:32875576 PMID:34240417 More...
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10428046
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Floating-betalipoproteinemia
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9279208 PMID:9360638 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome
ClinVar OMIM
PMID:36282599 PMID:36299998
NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
G
Pla2g4a
phospholipase A2 group IVA
ISO
ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
OMIM ClinVar
PMID:18451993 PMID:23268370 PMID:25102815 PMID:25741868 PMID:28492532
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Chit1
chitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17464953
NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592
G
Elp1
elongator acetyltransferase complex subunit 1
ISO
ClinVar Annotator: match by term: Gaucher disease
ClinVar
PMID:28492532
NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
G
Gba1
glucosylceramidase beta 1
ISO ISS
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis CTD Direct Evidence: marker/mechanism DNA:mutations:cds, intron:multiple (human) DNA:missense mutations, deletion:cds:multiple (human)
ClinVar MouseDO CTD RGD
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2349952 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7500895 PMID:7627184 PMID:7655857 PMID:7694727 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8547070 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8829663 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9101438 PMID:9153297 PMID:9182788 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9497856 PMID:9516376 PMID:9536098 PMID:9554454 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10206680 PMID:10352942 PMID:10369158 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10679038 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11406344 PMID:11600137 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12000368 PMID:12204005 PMID:12359135 PMID:12476451 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12667990 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14509164 PMID:14578207 PMID:14728994 PMID:14757438 PMID:14994233 PMID:15146461 PMID:15214004 PMID:15276648 PMID:15329082 PMID:15352589 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15916907 PMID:15943874 PMID:15954102 PMID:15967693 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16185907 PMID:16199547 PMID:16293621 PMID:16326120 PMID:16329099 PMID:16546416 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17574891 PMID:17576681 PMID:17620502 PMID:17689991 PMID:17803231 PMID:17875915 PMID:18022370 PMID:18030725 PMID:18078074 PMID:18160183 PMID:18160322 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19433656 PMID:19433657 PMID:19459886 PMID:19513999 PMID:19527940 PMID:19790257 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20005137 PMID:20301446 PMID:20425034 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20880730 PMID:20946052 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21250698 PMID:21257328 PMID:21370884 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21455010 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21744338 PMID:21745757 PMID:21779299 PMID:21796727 PMID:21823541 PMID:21831682 PMID:21837367 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22112991 PMID:22118943 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22234757 PMID:22247978 PMID:22344629 PMID:22350617 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22791670 PMID:22812582 PMID:22884962 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23035075 PMID:23056756 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23332636 PMID:23386328 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23430873 PMID:23430949 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:23935976 PMID:23936319 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24313877 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24801745 PMID:24904648 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25326392 PMID:25333069 PMID:25356393 PMID:25435509 PMID:25456120 PMID:25482214 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25637381 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25829804 PMID:25933391 PMID:25946768 PMID:26000814 PMID:26008600 PMID:26027833 PMID:26043810 PMID:26051481 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26296077 PMID:26316492 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26792850 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27007895 PMID:27008195 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27136700 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27334896 PMID:27393345 PMID:27397011 PMID:27571329 PMID:27632223 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27790088 PMID:27802905 PMID:27816428 PMID:27825739 PMID:27836528 PMID:27864021 PMID:27865684 PMID:27872820 PMID:27896091 PMID:27922757 PMID:28034821 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28580830 PMID:28686011 PMID:28727984 PMID:28749476 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28944235 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29423829 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29656334 PMID:29685539 PMID:29784561 PMID:29842932 PMID:29934114 PMID:29948939 PMID:29980418 PMID:30115580 PMID:30146349 PMID:30169122 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30461613 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30573413 PMID:30606667 PMID:30609409 PMID:30637984 PMID:30662625 PMID:30764785 PMID:30777654 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31662221 PMID:31799121 PMID:31816052 PMID:31996268 PMID:32014045 PMID:32035846 PMID:32042592 PMID:32165122 PMID:32404250 PMID:32547927 PMID:32613234 PMID:32618053 PMID:32623306 PMID:32658388 PMID:32677286 PMID:32702516 PMID:32707456 PMID:32714263 PMID:32866938 PMID:32883051 PMID:32888397 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33277783 PMID:33281709 PMID:33301762 PMID:33334373 PMID:33402667 PMID:33420335 PMID:33473340 PMID:33547828 PMID:33570220 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34017912 PMID:34072005 PMID:34073924 PMID:34134921 PMID:34275192 PMID:34280392 PMID:34282371 PMID:34426522 PMID:34440436 PMID:34450264 PMID:34586679 PMID:34649574 PMID:34867278 PMID:34930372 PMID:35262230 PMID:35639160 PMID:84325327 PMID:21112800 PMID:17059888 PMID:18586596 PMID:21252206 More...
RGD:5508423 , RGD:12791018 , RGD:12791017 , RGD:5508431
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Il4
interleukin 4
ISO
protein:increased expression:lung
RGD
PMID:21223590
RGD:5128511
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar
PMID:22493294
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
G
Pklr
pyruvate kinase L/R
ISO
DNA:repeats:intron:IVS11+?(ATT)5 (human)
RGD
PMID:9677056
RGD:11535995
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
G
Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Gaucher disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
G
Snca
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576930
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
G
Tnf
tumor necrosis factor
severity
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:15919211
RGD:12904037
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Ttn
titin
ISO
ClinVar Annotator: match by term: GBA DEFICIENCY
ClinVar
PMID:25741868
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Gba1
glucosylceramidase beta 1
susceptibility
ISO
ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8751878 PMID:8774051 PMID:8790604 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10352942 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15214004 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15967693 PMID:16061944 PMID:16293621 PMID:16546416 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19459886 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20005137 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21779299 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22234757 PMID:22375149 PMID:22388998 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22812582 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Gba1
glucosylceramidase beta 1
susceptibility
ISS ISO
OMIM:230800 ClinVar Annotator: match by term: Gaucher disease type I
MouseDO OMIM ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2349952 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3180993 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7694727 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8751878 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9182788 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9516376 PMID:9536098 PMID:9554454 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10340647 PMID:10352942 PMID:10369158 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10679038 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11406344 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14728994 PMID:14757438 PMID:14994233 PMID:15146461 PMID:15214004 PMID:15276648 PMID:15329082 PMID:15352589 PMID:15605411 PMID:15690354 PMID:15826241 PMID:15943874 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16199547 PMID:16293621 PMID:16329099 PMID:16546416 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17560820 PMID:17574891 PMID:17576681 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18030725 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19026343 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19459886 PMID:19513999 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20005137 PMID:20301446 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20880730 PMID:20946052 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21455010 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21779299 PMID:21823541 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22112991 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22234757 PMID:22247978 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22493294 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22791670 PMID:22812582 PMID:22961873 PMID:22964618 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23056756 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23332636 PMID:23386328 PMID:23418865 PMID:23426826 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23508695 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:23935976 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24313877 PMID:24434810 PMID:24482953 PMID:24513544 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24801745 PMID:24904648 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25482214 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25829804 PMID:25933391 PMID:25946768 PMID:26008600 PMID:26043810 PMID:26051481 PMID:26096741 PMID:26117366 PMID:26220978 PMID:26316492 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26756743 PMID:26792850 PMID:26847548 PMID:26868973 PMID:26905200 PMID:27008195 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27136700 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27282561 PMID:27312774 PMID:27393345 PMID:27632223 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27816428 PMID:27825739 PMID:27836528 PMID:27864021 PMID:27865684 PMID:27872820 PMID:27896091 PMID:27922757 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28580830 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30115580 PMID:30146349 PMID:30169122 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30461613 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30637984 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31816052 PMID:31943857 PMID:31996268 PMID:32014045 PMID:32035846 PMID:32042592 PMID:32165122 PMID:32547927 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32702516 PMID:32707456 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33301762 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 PMID:34280392 PMID:34426522 PMID:34649574 PMID:34930372 PMID:84325327 More...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile
ClinVar
PMID:22493294
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
G
Ttn
titin
ISO
ClinVar Annotator: match by term: GD I
ClinVar
PMID:25741868
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Gba1
glucosylceramidase beta 1
susceptibility
ISS ISO
OMIM:230900 ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
MouseDO OMIM ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15605411 PMID:15826241 PMID:15954102 PMID:16061944 PMID:16199547 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21445609 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24756352 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26689913 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27825739 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34134921 PMID:34275192 PMID:34426522 PMID:34649574 More...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Gba1
glucosylceramidase beta 1
susceptibility
ISO
ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type
ClinVar OMIM
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8829654 PMID:8929950 PMID:9040001 PMID:9279145 PMID:9375849 PMID:9554746 PMID:9556036 PMID:9650766 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10757640 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12476451 PMID:12482401 PMID:12595585 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15605411 PMID:15826241 PMID:15954102 PMID:16061944 PMID:16086325 PMID:16293621 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20301446 PMID:20432762 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22387070 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26709268 PMID:26743617 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27632223 PMID:27717005 PMID:27735925 PMID:27802905 PMID:27825739 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29685539 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Gba1
glucosylceramidase beta 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
CTD OMIM ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8213821 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8790604 PMID:8929950 PMID:9040001 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10636167 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11336129 PMID:11359469 PMID:11933202 PMID:11992489 PMID:12482401 PMID:12838552 PMID:14578207 PMID:14728994 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16061944 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25946768 PMID:26043810 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27825739 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31077260 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Mc2r
melanocortin 2 receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glucocorticoid deficiency 1
OMIM CTD ClinVar
PMID:7829641 PMID:8069303 PMID:8094489 PMID:8227361 PMID:8250922 PMID:8636348 PMID:9758716 PMID:10443676 PMID:12213892 PMID:14960026 PMID:16271481 PMID:17128565 PMID:17223989 PMID:18059087 PMID:18407210 PMID:18492762 PMID:18504396 PMID:18840636 PMID:19170705 PMID:19558534 PMID:21932602 PMID:25741868 PMID:26650942 PMID:28492532 PMID:34258490 More...
NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488
G
Mrap
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: Glucocorticoid deficiency 1
ClinVar
PMID:15654338 PMID:24033266 PMID:25741868
NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
G
Nnt
nicotinamide nucleotide transhydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22634753
NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823
G
Adgrg2
adhesion G protein-coupled receptor G2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
G
Bclaf3
BCLAF1 and THRAP3 family member 3
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816
G
Bend2
BEN domain containing 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,365,748...33,389,773
G
Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Map3k15
mitogen-activated protein kinase kinase kinase 15
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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Map7d2
MAP7 domain containing 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
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Nhs
NHS actin remodeling regulator
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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Phka2
phosphorylase kinase regulatory subunit alpha 2
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I DNA:mutations:multiple DNA:missense mutations:multiple
OMIM CTD ClinVar RGD
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 PMID:8733133 PMID:8733134 PMID:9536098 PMID:9600238 PMID:9835437 PMID:9870210 PMID:10330341 PMID:11286390 PMID:12862311 PMID:16199547 PMID:17304053 PMID:17576681 PMID:17689125 PMID:18076117 PMID:19763152 PMID:20307669 PMID:21634085 PMID:21646031 PMID:21857251 PMID:21911307 PMID:22406018 PMID:22899091 PMID:23578772 PMID:24055370 PMID:25070466 PMID:25266922 PMID:25315662 PMID:25741868 PMID:25741869 PMID:26157701 PMID:26944031 PMID:27103379 PMID:28085675 PMID:28283841 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28627441 PMID:30659246 PMID:30945684 PMID:31248825 PMID:31508908 PMID:31987065 PMID:32244026 PMID:32387637 PMID:34117828 PMID:34277355 PMID:28627441 PMID:8733134 PMID:28283841 More...
RGD:26884355 , RGD:26884354 , RGD:26884353
NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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Ppef1
protein phosphatase with EF-hand domain 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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Rai2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
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Rps6ka3
ribosomal protein S6 kinase A3
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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Scml1
Scm polycomb group protein like 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
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Scml2
Scm polycomb group protein like 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
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Sh3kbp1
SH3 domain-containing kinase-binding protein 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXa1
ClinVar
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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Abcc12
ATP binding cassette subfamily C member 12
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:20,549,298...20,621,991
Ensembl chr19:20,549,405...20,620,734
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C19h16orf87
similar to human chromosome 16 open reading frame 87
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:21,626,390...21,653,869
Ensembl chr19:21,626,914...21,654,255
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Dnaja2
DnaJ heat shock protein family (Hsp40) member A2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:21,497,792...21,516,904
Ensembl chr19:21,497,729...21,516,901
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Gpt2
glutamic--pyruvic transaminase 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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Itfg1
integrin alpha FG-GAP repeat containing 1
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:21,210,697...21,331,285
Ensembl chr19:21,210,733...21,331,279
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Mylk3
myosin light chain kinase 3
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:21,685,085...21,743,587
Ensembl chr19:21,691,929...21,742,954
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Neto2
neuropilin and tolloid like 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023
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Orc6
origin recognition complex, subunit 6
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
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Phkb
phosphorylase kinase regulatory subunit beta
ISO ISS
ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE OMIM:261750 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 PMID:16199547 PMID:17576681 PMID:17689125 PMID:18950708 PMID:21646031 PMID:24082139 PMID:25070466 PMID:25640679 PMID:25741868 PMID:26526422 PMID:26913919 PMID:28146470 PMID:28492532 PMID:28870985 PMID:29970176 PMID:30919572 PMID:31214250 PMID:31508908 PMID:32505569 PMID:33782433 PMID:33858366 PMID:34093448 PMID:34136918 More...
NCBI chr19:21,013,719...21,210,671
Ensembl chr19:21,025,733...21,210,633
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXb
ClinVar
PMID:28492532
NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
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Phkg2
phosphorylase kinase catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 PMID:9536098 PMID:10905889 PMID:12930917 PMID:16199547 PMID:17576681 PMID:17689125 PMID:21646031 PMID:22899091 PMID:24102521 PMID:24389071 PMID:25266922 PMID:25741868 PMID:27207549 PMID:28492532 PMID:29360628 PMID:31508908 PMID:32697758 PMID:35834487 More...
NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
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Phka1
phosphorylase kinase regulatory subunit alpha 1
ISO ISS
OMIM:300559 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition
OMIM MouseDO CTD ClinVar
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 PMID:12825073 PMID:15637709 PMID:16199547 PMID:17576681 PMID:18401027 PMID:22238410 PMID:25640679 PMID:25741868 PMID:26242992 PMID:28492532 PMID:29667327 PMID:32528171 More...
NCBI chr X:67,601,302...67,738,504
Ensembl chr X:67,601,302...67,738,455
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Phka2
phosphorylase kinase regulatory subunit alpha 2
ISO
ClinVar Annotator: match by term: Glycogen storage disease IXd
ClinVar
PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 PMID:28492532 PMID:28627441 PMID:31508908 More...
NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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Chpt1
choline phosphotransferase 1
ISO
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar
PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 PMID:27662472 PMID:28492532 More...
NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis
ClinVar
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26385638 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31589614 PMID:31934135 PMID:34426522 PMID:34645491 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptg
N-acetylglucosamine-1-phosphate transferase subunit gamma
ISO
mucolipidosis IIIC
RGD
PMID:10712439
RGD:1599045
NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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Mcoln1
mucolipin TRP cation channel 1
ISO
RGD
PMID:10973263
RGD:1599926
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Neu1
neuraminidase 1
ISS ISO
OMIM:256550 ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis
MouseDO ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:16712870 PMID:17576681 PMID:18343720 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:29018767 PMID:29414417 PMID:30023283 PMID:30548430 PMID:30941624 PMID:31711734 PMID:32453490 PMID:32472645 PMID:32485644 PMID:32752208 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34992946 PMID:35036219 More...
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Myo19
myosin XIX
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
ClinVar
PMID:25741868
NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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Pigm
phosphatidylinositol glycan anchor biosynthesis, class M
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16767100 PMID:17442906 PMID:25293775 PMID:25741868 PMID:28492532 PMID:31445883 More...
NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381
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Pigw
phosphatidylinositol glycan anchor biosynthesis, class W
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
ClinVar
PMID:25741868
NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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Gpaa1
glycosylphosphatidylinositol anchor attachment 1
ISO
ClinVar Annotator: match by term: GPAA1-related condition | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29100095 PMID:32637629 PMID:34703884 More...
NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484
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C13h1orf105
similar to human chromosome 1 open reading frame 105
ISO
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16
ClinVar
PMID:25741868 PMID:25741900 PMID:27694521 PMID:28492532
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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Pigc
phosphatidylinositol glycan anchor biosynthesis, class C
ISO
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16
OMIM ClinVar
PMID:25741868 PMID:25741900 PMID:27694521 PMID:28492532
NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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Gphn
gephyrin
ISO
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 | ClinVar Annotator: match by term: PIGH-related condition
ClinVar
PMID:25741868 PMID:29573052 PMID:29603516 PMID:33156547 PMID:35445667
NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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Pigh
phosphatidylinositol glycan anchor biosynthesis, class H
ISO
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 | ClinVar Annotator: match by term: PIGH-related condition
OMIM ClinVar
PMID:25741868 PMID:29573052 PMID:29603516 PMID:33156547 PMID:35445667
NCBI chr 6:97,874,903...97,897,188
Ensembl chr 6:97,882,903...97,897,142
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Pigu
phosphatidylinositol glycan anchor biosynthesis, class U
ISO
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 21
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31353022
NCBI chr 3:143,784,831...143,881,268
Ensembl chr 3:143,784,832...143,880,807
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C18h18orf32
similar to human chromosome 18 open reading frame 32
ISO
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25
OMIM ClinVar
PMID:28492532 PMID:35107634
NCBI chr18:68,586,278...68,594,851
Ensembl chr18:68,586,211...68,596,787
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Glb1
galactosidase, beta 1
treatment
ISO ISS
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis CTD Direct Evidence: marker/mechanism DNA:mutations:multiple:
ClinVar MouseDO CTD RGD
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16314480 PMID:16385454 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17664528 PMID:18524657 PMID:19472408 PMID:20175788 PMID:20409738 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24033266 PMID:24156116 PMID:24777551 PMID:25326635 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:28332257 PMID:28476546 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29352662 PMID:29396849 PMID:29439846 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30555092 PMID:30809705 PMID:31367523 PMID:31761138 PMID:31776384 PMID:33083013 PMID:33240792 PMID:33737400 PMID:34426522 PMID:35614200 PMID:10737981 PMID:25964428 PMID:17309651 More...
RGD:1598983 , RGD:11086251 , RGD:12910453
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Tmppe
transmembrane protein with metallophosphoesterase domain
ISO
ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar
PMID:16941474 PMID:25741868 PMID:28492532
NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
G
Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
OMIM ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16385454 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:18571950 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:24033266 PMID:24156116 PMID:24767253 PMID:25326635 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26169295 PMID:26646981 PMID:27619815 PMID:27679996 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29439846 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30548430 PMID:30809705 PMID:31761138 PMID:31776384 PMID:32219518 PMID:33737400 More...
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
G
Tmppe
transmembrane protein with metallophosphoesterase domain
ISO
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 PMID:17576681 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 More...
NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: GM1 gangliosidosis type 2
OMIM ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10744681 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15943552 PMID:15986423 PMID:16199547 PMID:16314480 PMID:16385454 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17661814 PMID:17664528 PMID:18524657 PMID:18571950 PMID:19472408 PMID:19644515 PMID:20175788 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22675082 PMID:23046582 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:23757202 PMID:23831247 PMID:24033266 PMID:24156116 PMID:24767253 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25525159 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:27619815 PMID:27679996 PMID:27750150 PMID:28332257 PMID:28476546 PMID:28492532 PMID:28554332 PMID:28577204 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29439846 PMID:29451896 PMID:30138938 PMID:30267299 PMID:30408610 PMID:30442161 PMID:30548430 PMID:30675867 PMID:30809705 PMID:31367523 PMID:31761138 PMID:31776384 PMID:32779865 PMID:33083013 PMID:33240792 PMID:33558080 PMID:33737400 PMID:34426522 PMID:35614200 PMID:35937492 More...
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Tmppe
transmembrane protein with metallophosphoesterase domain
ISO
ClinVar Annotator: match by term: GM1 gangliosidosis type 2
ClinVar
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 PMID:17576681 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 More...
NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis
OMIM ClinVar
PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:9781688 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15906092 PMID:15986423 PMID:16385454 PMID:16617000 PMID:16626397 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:19472408 PMID:19644515 PMID:20175788 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:23151865 PMID:23337983 PMID:23430499 PMID:24156116 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26646981 PMID:28492532 PMID:28554332 PMID:28716012 PMID:29160035 PMID:29352662 PMID:29439846 PMID:30267299 PMID:31761138 PMID:31776384 More...
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Tmppe
transmembrane protein with metallophosphoesterase domain
ISO
ClinVar Annotator: match by term: GM1 gangliosidosis type 3
ClinVar
PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 More...
NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
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Gm2a
ganglioside GM2 activator
ISO
Tay-Sachs Disease, AB Variant
RGD
PMID:10364519
RGD:1598993
NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
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Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset
ClinVar
PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 PMID:6236221 PMID:8328462 PMID:8343225 PMID:8490625 PMID:8757036 PMID:9090523 PMID:9536098 PMID:10852376 PMID:14724290 PMID:15714079 PMID:17576681 PMID:18490185 PMID:19815695 PMID:20363167 PMID:21228398 PMID:22006919 PMID:22975760 PMID:25741868 PMID:27033294 PMID:27682588 PMID:28492532 PMID:31076878 PMID:31367523 More...
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Snca
synuclein alpha
ISO
protein:increased expression:brain
RGD
PMID:12657883
RGD:6480199
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Sncb
synuclein, beta
ISO
protein:increased expression:brain
RGD
PMID:12657883
RGD:6480199
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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Gm2a
ganglioside GM2 activator
ISO ISS
OMIM:272750 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
OMIM MouseDO CTD ClinVar
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 PMID:9536098 PMID:10364519 PMID:17576681 PMID:24767253 PMID:25558065 PMID:25741868 PMID:26082327 PMID:26203402 PMID:28417072 PMID:28492532 PMID:33456446 More...
NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
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Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar
PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 PMID:2824459 PMID:2848800 PMID:8230592 PMID:8352284 PMID:8488832 PMID:8490625 PMID:10571007 PMID:11463833 PMID:14727180 PMID:16088929 PMID:16352452 PMID:18358410 PMID:20301397 PMID:20672374 PMID:21228398 PMID:22441121 PMID:22723944 PMID:22789865 PMID:22975760 PMID:23852624 PMID:24033266 PMID:24374108 PMID:24518553 PMID:24940364 PMID:25287655 PMID:25557439 PMID:25741868 PMID:27033294 PMID:27896118 PMID:27959697 PMID:28492532 PMID:28503624 PMID:33083013 More...
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Slc36a2
solute carrier family 36 member 2
ISO
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar
PMID:28492532
NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082
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Slc36a3
solute carrier family 36, member 3
ISO
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar
PMID:28492532
NCBI chr10:39,243,531...39,273,433
Ensembl chr10:39,243,595...39,270,567
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Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset
ClinVar
PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 PMID:6236221 PMID:8328462 PMID:8343225 PMID:8490625 PMID:9536098 PMID:10852376 PMID:14566483 PMID:14577003 PMID:15714079 PMID:16088929 PMID:17015493 PMID:17237499 PMID:17576681 PMID:18490185 PMID:19815695 PMID:20363167 PMID:21228398 PMID:22006919 PMID:22789865 PMID:22975760 PMID:25741868 PMID:27033294 PMID:27682588 PMID:28492532 PMID:31076878 More...
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1
ClinVar
PMID:1532289
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Lipc
lipase C, hepatic type
ISO
ClinVar Annotator: match by term: Hepatic lipase deficiency | ClinVar Annotator: match by term: LIPC DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:9536098 PMID:10729390 PMID:12777476 PMID:17576681 PMID:19088157 PMID:21130455 PMID:21986251 PMID:23685560 PMID:24033266 PMID:24497850 PMID:24633158 PMID:25361584 PMID:25741868 PMID:25995285 PMID:28492532 PMID:28870971 PMID:28951076 PMID:30333156 PMID:33339817 PMID:34662886 More...
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:12876073
RGD:8694470
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:10930169
RGD:5684895
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Il18
interleukin 18
susceptibility
ISO
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:20331838 PMID:15353983
RGD:8655915 , RGD:8655934
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Mmp1
matrix metallopeptidase 1
ISO
DNA:SNP
RGD
PMID:20852404
RGD:8549721
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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Lpl
lipoprotein lipase
ISO
ClinVar Annotator: match by term: Hyperapobetalipoproteinemia
ClinVar
PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 PMID:1512512 PMID:1598907 PMID:1619366 PMID:1639392 PMID:1674945 PMID:1702428 PMID:1730727 PMID:1731801 PMID:1752947 PMID:1872917 PMID:1907278 PMID:1969408 PMID:1975597 PMID:2038366 PMID:2394828 PMID:2914262 PMID:6645961 PMID:7607318 PMID:7647785 PMID:7906986 PMID:8096693 PMID:8099055 PMID:8541837 PMID:8732773 PMID:8808493 PMID:8956048 PMID:8973094 PMID:9401010 PMID:9811888 PMID:10359734 PMID:10560236 PMID:10619999 PMID:11334614 PMID:11893776 PMID:12204001 PMID:12655575 PMID:12839295 PMID:12905705 PMID:15877202 PMID:16199547 PMID:16278884 PMID:16972177 PMID:17476032 PMID:17560523 PMID:17717288 PMID:18068174 PMID:18350203 PMID:18922999 PMID:19034041 PMID:19335919 PMID:20650961 PMID:21159338 PMID:22095987 PMID:22239554 PMID:22691586 PMID:23212406 PMID:23357145 PMID:23484243 PMID:24291057 PMID:24366202 PMID:24503134 PMID:24507774 PMID:24591733 PMID:24627108 PMID:24646025 PMID:24747307 PMID:24793350 PMID:25741868 PMID:25966443 PMID:26079787 PMID:26156051 PMID:26337181 PMID:26342331 PMID:26892137 PMID:26975783 PMID:27055971 PMID:27097985 PMID:27142713 PMID:27150867 PMID:27206937 PMID:27573733 PMID:28008009 PMID:28267856 PMID:28438574 PMID:28492532 PMID:28502509 PMID:28606150 PMID:28951076 PMID:29054425 PMID:29153744 PMID:29288010 PMID:29431110 PMID:29748148 PMID:29921298 PMID:30150141 PMID:30210108 PMID:30352774 PMID:30389453 PMID:30420299 PMID:30559189 PMID:31153847 PMID:31352695 PMID:31589614 PMID:31619059 PMID:31669931 PMID:31901151 PMID:32041611 PMID:32472350 PMID:33217533 PMID:33303402 PMID:33588820 PMID:34363016 PMID:34635320 PMID:35309119 PMID:35368694 PMID:35837325 PMID:36555767 More...
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Ppara
peroxisome proliferator activated receptor alpha
ISO
ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to
ClinVar
PMID:10828087 PMID:12006394 PMID:15309680
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Abca1
ATP binding cassette subfamily A member 1
ISO IEP
mRNA:increased expression:liver, jejunum (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22022523 PMID:15118671 PMID:24619822
RGD:1331525 , RGD:19165129
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcb11
ATP binding cassette subfamily B member 11
ISO
RGD
PMID:21726512
RGD:14688050
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcg5
ATP binding cassette subfamily G member 5
ISO
ClinVar Annotator: match by term: Hypercholesterolemia
ClinVar
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8
ATP binding cassette subfamily G member 8
ISO
DNA:polymorphism: :p.M429V
RGD
PMID:15816807
RGD:1601094
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Acat2
acetyl-CoA acetyltransferase 2
ISO
RGD
PMID:11100118
RGD:1556516
NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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Alpl
alkaline phosphatase, biomineralization associated
IEP
RGD
PMID:17403193
RGD:1601171
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Apoa1
apolipoprotein A1
ISO
DNA:polymorphisms: :-75G>A, 83C>T (human)
RGD
PMID:16309370
RGD:1601184
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
IEP ISO
ClinVar Annotator: match by term: Hypercholesterolemia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1600334 PMID:20657596 PMID:22923420 PMID:24033266 PMID:25647241 PMID:25741868 PMID:26415676 PMID:26467025 PMID:27578127 PMID:28492532 PMID:28518168 PMID:32115487 PMID:32461654 PMID:35339733 PMID:36190978 PMID:16581047 More...
RGD:1599167
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoc2
apolipoprotein C2
susceptibility
ISO
associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human)
RGD
PMID:8490626
RGD:1601207
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Apoc3
apolipoprotein C3
ISO
RGD
PMID:2879788
RGD:1578447
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
susceptibility severity
ISO IMP
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)
ClinVar CTD RGD
PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:11397713 PMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:21043830 PMID:22022523 PMID:22228805 PMID:22992668 PMID:25741868 PMID:17217375 PMID:28808185 PMID:21357213 PMID:1411543 More...
RGD:1601229 , RGD:13703132 , RGD:6903838 , RGD:734968
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Atm
ATM serine/threonine kinase
susceptibility
ISO
RGD
PMID:15863839
RGD:1601249
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Casp3
caspase 3
IEP
RGD
PMID:24484682
RGD:13782354
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp9
caspase 9
IEP
RGD
PMID:24484682
RGD:13782354
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cd36
CD36 molecule
ISO
RGD
PMID:10946357
RGD:11040931
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd40
CD40 molecule
treatment
IEP IDA
protein:increased expression:serum
RGD
PMID:21574786 PMID:21574786
RGD:7248754 , RGD:7248754
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO IEP IDA
associated with Diabetes Mellitus, Type 2 protein:increased expression:platelet (rat)
RGD
PMID:18787388 PMID:21574786 PMID:26950185
RGD:7248428 , RGD:7248754 , RGD:11344960
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Ces1d
carboxylesterase 1D
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12773168
NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21852083
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Cpb2
carboxypeptidase B2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:16123492
RGD:2313641
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Csf1
colony stimulating factor 1
IEP
RGD
PMID:9158105
RGD:1641957
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Ctf1
cardiotrophin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21803294
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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Cyp51
cytochrome P450, family 51
IEP
mRNA:decreased expression:liver
RGD
PMID:16472823
RGD:13782194
NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
ISO IEP
CTD Direct Evidence: therapeutic mRNA:decreased expression:liver
CTD RGD
PMID:8245718 PMID:16472823
RGD:13782194
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15486036
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eng
endoglin
treatment
ISO
protein:increased expression, aortic root, aortic arch, endothelium (mouse)
RGD
PMID:17901886 PMID:17901886
RGD:7257552 , RGD:7257552
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Fgf2
fibroblast growth factor 2
ISO
associated with Carcinoma, Ductal, Breast
RGD
PMID:15491965
RGD:8655598
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:21966115
RGD:10449170
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gpr17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966
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Gsr
glutathione-disulfide reductase
treatment
IEP IDA
RGD
PMID:24770475 PMID:24120393
RGD:10401874 , RGD:10401896
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Haao
3-hydroxyanthranilate 3,4-dioxygenase
treatment
ISO
Ldlr knockout mouse
RGD
PMID:31589306
RGD:243065123
NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877
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Hmbs
hydroxymethylbilane synthase
ISO
associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes
RGD
PMID:2809566
RGD:2301684
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO IEP IDA
mRNA:decreased expression:liver (rat) mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8593127 PMID:1611649 PMID:24619822 PMID:25168180 PMID:17250646
RGD:5508480 , RGD:19165129 , RGD:13782271 , RGD:5508696
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Hnf4a
hepatocyte nuclear factor 4, alpha
resistance
ISO
Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1)
RGD
PMID:16804065
RGD:1601642
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Hp
haptoglobin
ISO
protein:increased expression:plasma
RGD
PMID:16944942
RGD:1626342
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:12921987
RGD:1624216
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14602771
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum
RGD
PMID:17330503
RGD:1626623
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Itgam
integrin subunit alpha M
ISO
protein:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:18676132
RGD:329853761
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
susceptibility
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to
ClinVar RGD
PMID:14661079 PMID:14661079
RGD:1627650
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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Ldlr
low density lipoprotein receptor
IEP ISO IMP
ClinVar Annotator: match by term: Hypercholesterolemia protein:decreased expression: liver CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:322919 PMID:484703 PMID:503269 PMID:1301940 PMID:1301956 PMID:1352322 PMID:1453433 PMID:1538685 PMID:1734910 PMID:1959928 PMID:1960926 PMID:2088165 PMID:2318961 PMID:2506353 PMID:3025214 PMID:3263645 PMID:3475071 PMID:3517112 PMID:3815525 PMID:4061491 PMID:4061492 PMID:4083361 PMID:6438436 PMID:7548065 PMID:7562961 PMID:7573037 PMID:7603991 PMID:7616128 PMID:7718019 PMID:7749829 PMID:7820934 PMID:7833932 PMID:7979249 PMID:8295321 PMID:8535447 PMID:8829662 PMID:8911609 PMID:9026534 PMID:9104431 PMID:9237502 PMID:9254862 PMID:9259195 PMID:9409298 PMID:9544745 PMID:9544746 PMID:9547893 PMID:9654205 PMID:9664576 PMID:9676383 PMID:9698020 PMID:9763532 PMID:9767373 PMID:9974426 PMID:10090473 PMID:10090484 PMID:10208479 PMID:10230472 PMID:10422803 PMID:10441197 PMID:10532689 PMID:10559517 PMID:10634824 PMID:10657581 PMID:10735632 PMID:10882754 PMID:10978268 PMID:11005141 PMID:11139254 PMID:11196104 PMID:11317361 PMID:11435110 PMID:11462246 PMID:11600564 PMID:11641914 PMID:11668627 PMID:11668640 PMID:11737238 PMID:11754108 PMID:11810272 PMID:11845603 PMID:11857755 PMID:11939787 PMID:12124988 PMID:12406975 PMID:12436241 PMID:12492446 PMID:12553167 PMID:12730724 PMID:14209286 PMID:14508510 PMID:14974088 PMID:15015036 PMID:15199436 PMID:15241806 PMID:15256764 PMID:15359125 PMID:15523646 PMID:15556092 PMID:15556094 PMID:15576851 PMID:15701167 PMID:15823276 PMID:15823280 PMID:15823288 PMID:15864114 PMID:15890894 PMID:15914792 PMID:15998910 PMID:16159606 PMID:16199547 PMID:16250003 PMID:16314194 PMID:16389549 PMID:16424354 PMID:16542394 PMID:16627557 PMID:16792510 PMID:17087781 PMID:17094996 PMID:17142622 PMID:17196209 PMID:17335829 PMID:17347910 PMID:17539906 PMID:17761685 PMID:17765246 PMID:18096825 PMID:18206115 PMID:18263977 PMID:18325082 PMID:18400033 PMID:18450471 PMID:18503695 PMID:18718593 PMID:19026292 PMID:19062533 PMID:19118540 PMID:19148831 PMID:19208450 PMID:19318025 PMID:19319977 PMID:19361455 PMID:19446849 PMID:19602640 PMID:19717150 PMID:19837725 PMID:19843101 PMID:20018285 PMID:20045108 PMID:20091938 PMID:20145306 PMID:20236128 PMID:20428891 PMID:20506408 PMID:20530721 PMID:20538126 PMID:20663204 PMID:20809525 PMID:20981092 PMID:21145767 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21418584 PMID:21475731 PMID:21531209 PMID:21722902 PMID:21865347 PMID:21868016 PMID:21925044 PMID:21935675 PMID:21957200 PMID:21990180 PMID:22294733 PMID:22353362 PMID:22390909 PMID:22487947 PMID:22683370 PMID:22698793 PMID:22859806 PMID:22881376 PMID:22883975 PMID:22884763 PMID:22910581 PMID:22923420 PMID:22995991 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23669246 PMID:23680767 PMID:23833242 PMID:23936638 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24373485 PMID:24503134 PMID:24507775 PMID:24529145 PMID:24585268 PMID:24627126 PMID:24916650 PMID:24956927 PMID:25154303 PMID:25333069 PMID:25378237 PMID:25395200 PMID:25437892 PMID:25461735 PMID:25463123 PMID:25487149 PMID:25525159 PMID:25606447 PMID:25618577 PMID:25637381 PMID:25647241 PMID:25682026 PMID:25741862 PMID:25741868 PMID:25741872 PMID:25781017 PMID:25887683 PMID:25936317 PMID:26020417 PMID:26036859 PMID:26238499 PMID:26332594 PMID:26342331 PMID:26361156 PMID:26415676 PMID:26467025 PMID:26723464 PMID:26748104 PMID:26802169 PMID:26875785 PMID:26892515 PMID:26927322 PMID:27044878 PMID:27050191 PMID:27153395 PMID:27175606 PMID:27206935 PMID:27206941 PMID:27247956 PMID:27497240 PMID:27578128 PMID:27596133 PMID:27678436 PMID:27680772 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27824480 PMID:27828139 PMID:27830735 PMID:27878139 PMID:27998977 PMID:28008010 PMID:28104544 PMID:28126585 PMID:28145427 PMID:28161202 PMID:28166811 PMID:28220743 PMID:28391882 PMID:28492532 PMID:28502495 PMID:28502510 PMID:28645073 PMID:28873201 PMID:28965616 PMID:29083407 PMID:29172679 PMID:29233637 PMID:29245966 PMID:29261184 PMID:29292049 PMID:29353225 PMID:29396260 PMID:29502162 PMID:29874871 PMID:29937437 PMID:30016271 PMID:30019023 PMID:30179711 PMID:30241732 PMID:30270083 PMID:30270091 PMID:30293936 PMID:30312929 PMID:30333156 PMID:30413722 PMID:30415195 PMID:30526649 PMID:30583242 PMID:30586733 PMID:30592178 PMID:30710474 PMID:30777337 PMID:30795984 PMID:30971288 PMID:31048103 PMID:31106297 PMID:31213876 PMID:31345425 PMID:31401775 PMID:31447099 PMID:31491741 PMID:31578082 PMID:31617323 PMID:31653860 PMID:31993549 PMID:32015373 PMID:32041611 PMID:32143996 PMID:32163632 PMID:32220565 PMID:32231684 PMID:32331935 PMID:32423031 PMID:32522009 PMID:32581083 PMID:32660911 PMID:32675277 PMID:32695144 PMID:32715071 PMID:32719484 PMID:32770674 PMID:32878475 PMID:32892247 PMID:32906206 PMID:32977124 PMID:32989269 PMID:33079599 PMID:33087929 PMID:33226606 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33508743 PMID:33740630 PMID:33854068 PMID:33955087 PMID:33975813 PMID:33994402 PMID:34029164 PMID:34037665 PMID:34040191 PMID:34167030 PMID:34176852 PMID:34321884 PMID:34426522 PMID:34496902 PMID:34511120 PMID:34906454 PMID:34906840 PMID:34998859 PMID:35047021 PMID:35052492 PMID:35137788 PMID:35339733 PMID:35379577 PMID:35460704 PMID:35480308 PMID:35535697 PMID:35741760 PMID:35753512 PMID:35913489 PMID:36184534 PMID:36226792 PMID:36229376 PMID:36499307 PMID:36507290 PMID:36769678 PMID:36973604 PMID:37119068 PMID:16741953 PMID:20028367 PMID:27378433 PMID:28469073 More...
RGD:1581819 , RGD:21410185 , RGD:12910104 , RGD:12910100
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Ldlrem1
low density lipoprotein receptor; ZFN induced mutant 1
IMP
RGD
PMID:27378433
RGD:12910104
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Ldlrem1Sage
low density lipoprotein receptor; ZFN induced mutant 1, Sage
IMP
RGD
PMID:28469073
RGD:12910100
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Ldlrap1
low density lipoprotein receptor adaptor protein 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia
ClinVar RGD
PMID:11326085 PMID:12464675 PMID:16199547 PMID:25741868 PMID:28492532 PMID:15599766 More...
RGD:1626107
NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
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Lep
leptin
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25086370 PMID:22948215
RGD:12904911
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepem1Sage
leptin; zinc finger nuclease induced mutant1, Sage
IMP
RGD
PMID:22948215
RGD:12904911
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Lipc
lipase C, hepatic type
ISO IDA
associated with Diabetes Mellitus; protein:decreased expression:plasma (human) protein, mRNA:decreased expression:plasma, liver (rat) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)
RGD
PMID:6340423 PMID:7830494 PMID:11279518
RGD:2308850 , RGD:2308793 , RGD:2308841
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Hypercholesterolaemia
ClinVar
PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 PMID:26332594 PMID:27498076 PMID:27529282 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29253866 PMID:29557732 PMID:29791652 PMID:30420677 PMID:30847666 PMID:31383942 PMID:31857427 PMID:32041611 PMID:32616434 PMID:32685188 PMID:33713793 PMID:33803191 PMID:35449878 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21852083
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Lss
lanosterol synthase
ISO
mRNA:increased expression:liver
RGD
PMID:25168180
RGD:13782271
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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Mif
macrophage migration inhibitory factor
IEP
mRNA:increased expression:glomerulus
RGD
PMID:9158105
RGD:1641957
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir223
microRNA 223
ISO
RGD
PMID:25246565
RGD:21408582
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mvd
mevalonate diphosphate decarboxylase
ISO
mRNA:increased expression:liver
RGD
PMID:25168180
RGD:13782271
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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Mylk
myosin light chain kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21052790
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14871415
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Nox1
NADPH oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20832062
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Npc1l1
NPC1 like intracellular cholesterol transporter 1
ISO
RGD
PMID:15671032
RGD:1642184
NCBI chr14:81,071,448...81,091,113
Ensembl chr14:81,071,451...81,091,113
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Npy
neuropeptide Y
ISO
associated with Obesity;DNA:missense mutation:cds:p.L7P (human)
RGD
PMID:11689216
RGD:1580177
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
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Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16005304
NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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Pappa
pappalysin
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD
PMID:15531533 PMID:14661010
RGD:1642328 , RGD:1642329
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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Pcsk9
proprotein convertase subtilisin/kexin type 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercholesterolemia
CTD ClinVar
PMID:12730697 PMID:16183066 PMID:16571601 PMID:16912035 PMID:17380167 PMID:17765244 PMID:19081568 PMID:19191301 PMID:23375686 PMID:24033266 PMID:24808179 PMID:25741868 PMID:26374825 PMID:26633542 PMID:27206942 PMID:27280970 PMID:28008010 PMID:28492532 PMID:28777095 PMID:28994502 PMID:29259136 PMID:29724976 PMID:30293936 PMID:31491741 PMID:31949048 PMID:32044282 PMID:32058034 PMID:32719484 PMID:33147992 PMID:33269076 PMID:33303402 PMID:33533259 PMID:34521694 PMID:34526433 PMID:35929461 PMID:36087353 PMID:37469559 More...
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16229851
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppp1r17
protein phosphatase 1, regulatory subunit 17
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to
ClinVar
PMID:12955585
NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603
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Scap
SREBF chaperone
IEP
protein:increased expression:liver
RGD
PMID:16741953
RGD:1581819
NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666
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Scarb1
scavenger receptor class B, member 1
ISO
RGD
PMID:15967843
RGD:1580004
NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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Sele
selectin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14602771
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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Serpinf2
serpin family F member 2
ISO
protein:decreased expression:serum
RGD
PMID:1384011
RGD:1625534
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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Soat2
sterol O-acyltransferase 2
susceptibility
ISO
RGD
PMID:11100118
RGD:1556516
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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Sqle
squalene epoxidase
ISO
mRNA:increased expression:liver
RGD
PMID:25168180
RGD:13782271
NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
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Srebf1
sterol regulatory element binding transcription factor 1
IEP
protein:altered localization:liver
RGD
PMID:16741953
RGD:1581819
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srebf2
sterol regulatory element binding transcription factor 2
ISO IEP
protein:altered localization:liver DNA:mutations:exon:p.V623M, p.R645Q (human) DNA:polymorphism: :1784G>C (human)
RGD
PMID:18095312 PMID:16741953 PMID:11950857 PMID:15547298
RGD:2308813 , RGD:1581819 , RGD:1625197 , RGD:1581415
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14602771
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vegfa
vascular endothelial growth factor A
ISO
associated with Carcinoma, Ductal, Breast
RGD
PMID:15491965
RGD:8655598
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vldlr
very low density lipoprotein receptor
ISO
RGD
PMID:8636110
RGD:1625573
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Apob
apolipoprotein B
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3
ClinVar
PMID:25741868
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Bsnd
barttin CLCNK type accessory subunit beta
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3
ClinVar
PMID:28492532 PMID:30269829
NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
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Pcsk9
proprotein convertase subtilisin/kexin type 9
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2246507 PMID:9536098 PMID:10357843 PMID:10764678 PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:14727179 PMID:15099351 PMID:15166014 PMID:15358785 PMID:15654334 PMID:15772090 PMID:15893176 PMID:16183066 PMID:16211558 PMID:16224054 PMID:16314194 PMID:16424354 PMID:16465619 PMID:16554528 PMID:16571601 PMID:16777760 PMID:16909389 PMID:16912035 PMID:17094996 PMID:17140581 PMID:17170371 PMID:17316651 PMID:17380167 PMID:17435765 PMID:17461796 PMID:17502126 PMID:17576681 PMID:17765244 PMID:17765246 PMID:17804797 PMID:17921436 PMID:17971861 PMID:18028451 PMID:18039650 PMID:18197702 PMID:18250299 PMID:18262190 PMID:18266662 PMID:18300938 PMID:18354102 PMID:18436227 PMID:18559913 PMID:18631360 PMID:18710658 PMID:18718593 PMID:18799458 PMID:19001363 PMID:19022446 PMID:19081568 PMID:19191301 PMID:19249440 PMID:19351729 PMID:19571328 PMID:19762784 PMID:19768174 PMID:19797716 PMID:19917273 PMID:20006333 PMID:20031607 PMID:20172854 PMID:20538126 PMID:20579540 PMID:20623344 PMID:20959675 PMID:21146822 PMID:21147780 PMID:21376320 PMID:21502677 PMID:21943799 PMID:22095935 PMID:22344438 PMID:22417841 PMID:22683120 PMID:22875854 PMID:22923420 PMID:22995991 PMID:23064986 PMID:23095242 PMID:23105118 PMID:23247049 PMID:23298392 PMID:23375686 PMID:23386946 PMID:23535506 PMID:23555291 PMID:23663650 PMID:23680767 PMID:23726366 PMID:23743349 PMID:23935525 PMID:23997648 PMID:24033266 PMID:24115837 PMID:24252255 PMID:24278757 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24785115 PMID:24793346 PMID:24808179 PMID:24859021 PMID:25014035 PMID:25046268 PMID:25278291 PMID:25412415 PMID:25525159 PMID:25600226 PMID:25741868 PMID:25744035 PMID:25904937 PMID:25962062 PMID:25985138 PMID:26020417 PMID:26036859 PMID:26049403 PMID:26195630 PMID:26332594 PMID:26343872 PMID:26374825 PMID:26467025 PMID:26541928 PMID:26546829 PMID:26586530 PMID:26632531 PMID:26633542 PMID:26636822 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26902539 PMID:26911352 PMID:26937405 PMID:27050191 PMID:27135400 PMID:27153395 PMID:27206942 PMID:27218270 PMID:27280970 PMID:27422940 PMID:27516387 PMID:27575716 PMID:27765764 PMID:27896130 PMID:27919364 PMID:27998977 PMID:28008010 PMID:28166811 PMID:28179607 PMID:28302345 PMID:28323660 PMID:28349888 PMID:28360401 PMID:28438747 PMID:28492532 PMID:28521186 PMID:28587771 PMID:28768753 PMID:28777095 PMID:28784313 PMID:28965616 PMID:28994502 PMID:29036232 PMID:29083407 PMID:29127338 PMID:29192238 PMID:29259136 PMID:29261184 PMID:29399563 PMID:29438441 PMID:29459468 PMID:29593013 PMID:29724976 PMID:29748315 PMID:29802317 PMID:29982529 PMID:29997226 PMID:30146126 PMID:30241732 PMID:30269829 PMID:30270359 PMID:30293936 PMID:30487145 PMID:30526649 PMID:30710474 PMID:30726226 PMID:30779729 PMID:30795984 PMID:30899674 PMID:30971288 PMID:31106297 PMID:31217584 PMID:31353810 PMID:31386798 PMID:31419281 PMID:31491741 PMID:31518966 PMID:31553664 PMID:31589614 PMID:31949048 PMID:31993549 PMID:32009526 PMID:32044282 PMID:32058034 PMID:32226016 PMID:32640185 PMID:32719484 PMID:33091218 PMID:33147992 PMID:33173529 PMID:33217533 PMID:33231818 PMID:33258288 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33533259 PMID:33642439 PMID:33955087 PMID:34037665 PMID:34074024 PMID:34297352 PMID:34341098 PMID:34407635 PMID:34521694 PMID:34526433 PMID:34573395 PMID:34739847 PMID:34782856 PMID:34948399 PMID:35047021 PMID:35177841 PMID:35910211 PMID:35913489 PMID:35929461 PMID:36087353 PMID:36142332 PMID:36187800 PMID:36499307 PMID:36752612 PMID:36834740 PMID:37469559 More...
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
G
Usf1
upstream transcription factor 1
susceptibility
ISO
OMIM
NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
G
Abca1
ATP binding cassette subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16030523
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
G
Adrb2
adrenoceptor beta 2
ISO
DNA:polymorphism: :p.Q27E
RGD
PMID:17020471
RGD:1601121
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Ampd1
adenosine monophosphate deaminase 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
G
Apoa1
apolipoprotein A1
ISO
DNA:polymorphism:promoter:-75G>A (human)
RGD
PMID:9699897
RGD:1601186
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoa2
apolipoprotein A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12522687
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
G
Apoa4
apolipoprotein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16030523
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
G
Apob
apolipoprotein B
ISO
ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1770316 PMID:1793440 PMID:1940616 PMID:1977310 PMID:2022744 PMID:2280177 PMID:2375782 PMID:2563166 PMID:2574033 PMID:2614276 PMID:2725600 PMID:2843815 PMID:2903181 PMID:3399894 PMID:3473077 PMID:3477815 PMID:3771801 PMID:7627691 PMID:7670940 PMID:7882518 PMID:7883971 PMID:7947592 PMID:8141833 PMID:8254047 PMID:8318509 PMID:8318993 PMID:8354962 PMID:8371062 PMID:8468533 PMID:8478017 PMID:8723684 PMID:8831935 PMID:8843188 PMID:8889592 PMID:8931699 PMID:8960785 PMID:9081691 PMID:9104431 PMID:9105560 PMID:9191540 PMID:9254062 PMID:9259199 PMID:9339363 PMID:9486979 PMID:9490296 PMID:9536098 PMID:9568749 PMID:9603795 PMID:9654205 PMID:9702952 PMID:9925662 PMID:10208479 PMID:10388479 PMID:10529757 PMID:10735632 PMID:10952765 PMID:11031227 PMID:11115503 PMID:11137107 PMID:11238294 PMID:11494965 PMID:11781700 PMID:11810272 PMID:11833852 PMID:11940084 PMID:11941481 PMID:12124991 PMID:12655413 PMID:12872264 PMID:14508510 PMID:14732481 PMID:15135245 PMID:15514099 PMID:15797858 PMID:15805152 PMID:15984016 PMID:16199547 PMID:16250003 PMID:17043676 PMID:17046772 PMID:17087781 PMID:17142622 PMID:17160438 PMID:17539906 PMID:17570373 PMID:17576681 PMID:17588943 PMID:17595251 PMID:17765246 PMID:17964958 PMID:17968143 PMID:18022922 PMID:18028451 PMID:18096825 PMID:18160469 PMID:18222178 PMID:18258526 PMID:18279815 PMID:18325181 PMID:18355452 PMID:18492086 PMID:18700895 PMID:18710658 PMID:19084451 PMID:19602640 PMID:20032471 PMID:20145306 PMID:20167924 PMID:20236128 PMID:20506408 PMID:20538126 PMID:20592474 PMID:20657596 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20981092 PMID:21033204 PMID:21059979 PMID:21303902 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 PMID:21513517 PMID:21520333 PMID:21657943 PMID:21722902 PMID:21862702 PMID:21868016 PMID:21919778 PMID:22095935 PMID:22244043 PMID:22256951 PMID:22294733 PMID:22353362 PMID:22408029 PMID:22534770 PMID:22544856 PMID:22698793 PMID:22855658 PMID:22863191 PMID:22883975 PMID:22923420 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23593297 PMID:23680767 PMID:23685560 PMID:23775634 PMID:23833242 PMID:23936638 PMID:24033266 PMID:24106285 PMID:24234650 PMID:24404629 PMID:24498611 PMID:24503134 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24627126 PMID:24784157 PMID:24842304 PMID:24892279 PMID:24956927 PMID:24987033 PMID:25430706 PMID:25461735 PMID:25632026 PMID:25647241 PMID:25712136 PMID:25741868 PMID:25741869 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26415676 PMID:26467025 PMID:26516186 PMID:26546829 PMID:26612772 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26892515 PMID:27153395 PMID:27206935 PMID:27206948 PMID:27365461 PMID:27497240 PMID:27516387 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27824480 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28166811 PMID:28405938 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28518168 PMID:28733173 PMID:28895539 PMID:28953935 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29192238 PMID:29233637 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29459468 PMID:29540175 PMID:29555771 PMID:29572815 PMID:29590070 PMID:29598884 PMID:29870584 PMID:30030251 PMID:30056620 PMID:30076208 PMID:30122538 PMID:30206226 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 PMID:30333156 PMID:30337457 PMID:30348779 PMID:30420299 PMID:30526649 PMID:30586733 PMID:30592178 PMID:30681615 PMID:30694319 PMID:30710474 PMID:30782561 PMID:30842500 PMID:30971288 PMID:31028937 PMID:31106297 PMID:31135820 PMID:31150472 PMID:31153816 PMID:31345425 PMID:31371270 PMID:31447099 PMID:31570899 PMID:31589614 PMID:31624253 PMID:31893465 PMID:31980526 PMID:32009526 PMID:32044282 PMID:32101375 PMID:32115487 PMID:32355288 PMID:32461654 PMID:32489792 PMID:32591292 PMID:32625235 PMID:32702746 PMID:32706999 PMID:32719484 PMID:32770674 PMID:33006316 PMID:33020668 PMID:33059327 PMID:33111339 PMID:33137929 PMID:33207932 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33489595 PMID:33508743 PMID:33519890 PMID:33740630 PMID:33875564 PMID:34037665 PMID:34297352 PMID:34426522 PMID:34428338 PMID:34445196 PMID:34456049 PMID:34650182 PMID:34875256 PMID:35047021 PMID:35052492 PMID:35276540 PMID:35339733 PMID:35741760 PMID:35761384 PMID:35910211 PMID:35913489 PMID:35979295 PMID:36071769 PMID:36105085 PMID:36190978 PMID:36196022 PMID:36499307 PMID:36555767 PMID:36973604 PMID:37593691 PMID:37675602 PMID:17380167 PMID:9603795 PMID:12730697 More...
RGD:1626106 , RGD:1578415 , RGD:1580998
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Apoc3
apolipoprotein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16030523
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16030523
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Ghr
growth hormone receptor
ISO
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar
PMID:7565946 PMID:8504296 PMID:9360502 PMID:11502828 PMID:12910492 PMID:17462934 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12477733
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Ldlr
low density lipoprotein receptor
ISO
DNA:deletion: :p.G197del (human) ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:200368 PMID:251034 PMID:268635 PMID:322919 PMID:484703 PMID:484769 PMID:503179 PMID:503269 PMID:503406 PMID:503411 PMID:540742 PMID:583701 PMID:1057090 PMID:1139254 PMID:1301940 PMID:1301956 PMID:1310940 PMID:1319734 PMID:1352322 PMID:1374151 PMID:1438159 PMID:1453433 PMID:1463746 PMID:1464748 PMID:1493640 PMID:1538685 PMID:1714262 PMID:1734722 PMID:1734910 PMID:1757095 PMID:1830890 PMID:1884514 PMID:1952806 PMID:1959928 PMID:1960926 PMID:1978682 PMID:1999337 PMID:2029498 PMID:2088165 PMID:2143996 PMID:2298751 PMID:2318961 PMID:2352257 PMID:2506353 PMID:2548714 PMID:2565980 PMID:2568019 PMID:2569482 PMID:2572061 PMID:2600087 PMID:2698793 PMID:2726768 PMID:2760205 PMID:2799589 PMID:2901412 PMID:2920733 PMID:3020025 PMID:3025214 PMID:3198114 PMID:3202825 PMID:3204161 PMID:3263645 PMID:3343347 PMID:3425583 PMID:3430554 PMID:3472763 PMID:3475071 PMID:3494949 PMID:3495735 PMID:3517112 PMID:3815525 PMID:3816797 PMID:3955657 PMID:4039004 PMID:4061491 PMID:4061492 PMID:4083361 PMID:4319990 PMID:4750422 PMID:6091915 PMID:6299582 PMID:6324732 PMID:6438436 PMID:7489239 PMID:7545204 PMID:7548065 PMID:7550239 PMID:7562961 PMID:7573037 PMID:7583548 PMID:7603991 PMID:7606846 PMID:7616128 PMID:7635461 PMID:7649546 PMID:7649549 PMID:7682459 PMID:7709162 PMID:7718019 PMID:7718024 PMID:7749829 PMID:7773731 PMID:7789953 PMID:7820934 PMID:7894220 PMID:7903269 PMID:7903864 PMID:7937987 PMID:7947594 PMID:7979249 PMID:8054972 PMID:8093663 PMID:8096412 PMID:8098448 PMID:8141835 PMID:8168830 PMID:8295321 PMID:8314806 PMID:8347689 PMID:8399083 PMID:8462973 PMID:8478013 PMID:8535447 PMID:8568489 PMID:8599353 PMID:8644729 PMID:8645371 PMID:8645375 PMID:8664907 PMID:8664911 PMID:8697568 PMID:8784348 PMID:8828981 PMID:8828982 PMID:8829662 PMID:8850176 PMID:8872473 PMID:8879444 PMID:8882879 PMID:8911609 PMID:9003505 PMID:9007329 PMID:9016531 PMID:9026534 PMID:9039985 PMID:9048913 PMID:9090532 PMID:9104431 PMID:9137885 PMID:9143924 PMID:9147888 PMID:9157944 PMID:9180246 PMID:9184256 PMID:9195230 PMID:9212177 PMID:9222758 PMID:9225977 PMID:9237502 PMID:9237510 PMID:9254862 PMID:9259195 PMID:9262405 PMID:9272705 PMID:9399845 PMID:9409298 PMID:9412789 PMID:9430375 PMID:9452078 PMID:9452094 PMID:9452095 PMID:9452118 PMID:9484998 PMID:9500809 PMID:9536098 PMID:9538514 PMID:9544726 PMID:9544745 PMID:9544746 PMID:9544850 PMID:9547893 PMID:9654205 PMID:9664576 PMID:9676383 PMID:9678702 PMID:9698020 PMID:9712531 PMID:9727745 PMID:9727746 PMID:9763532 PMID:9767373 PMID:9852677 PMID:9974426 PMID:10064736 PMID:10066037 PMID:10081189 PMID:10089940 PMID:10090473 PMID:10090484 PMID:10200052 PMID:10206683 PMID:10208479 PMID:10208489 PMID:10208490 PMID:10208499 PMID:10230472 PMID:10357843 PMID:10407508 PMID:10422803 PMID:10422804 PMID:10428988 PMID:10441197 PMID:10447263 PMID:10484771 PMID:10487495 PMID:10532689 PMID:10559517 PMID:10570905 PMID:10611908 PMID:10634824 PMID:10657581 PMID:10668928 PMID:10704205 PMID:10735631 PMID:10735632 PMID:10737984 PMID:10782930 PMID:10790219 PMID:10807540 PMID:10882754 PMID:10884919 PMID:10924730 PMID:10933493 PMID:10947889 PMID:10952765 PMID:10978268 PMID:11005141 PMID:11013454 PMID:11031227 PMID:11040093 PMID:11052664 PMID:11139254 PMID:11182933 PMID:11194025 PMID:11196104 PMID:11237541 PMID:11257257 PMID:11295843 PMID:11313767 PMID:11317361 PMID:11317362 PMID:11325764 PMID:11373616 PMID:11381031 PMID:11435110 PMID:11462246 PMID:11472754 PMID:11484166 PMID:11491306 PMID:11506462 PMID:11524740 PMID:11585102 PMID:11600564 PMID:11641914 PMID:11642133 PMID:11668627 PMID:11668640 PMID:11737238 PMID:11754108 PMID:11810272 PMID:11845603 PMID:11851376 PMID:11857755 PMID:11916007 PMID:11933210 PMID:11939787 PMID:12009418 PMID:12052488 PMID:12055704 PMID:12113284 PMID:12124988 PMID:12205127 PMID:12406975 PMID:12414836 PMID:12417285 PMID:12436241 PMID:12442279 PMID:12459547 PMID:12473547 PMID:12477733 PMID:12492446 PMID:12522687 PMID:12553167 PMID:12575931 PMID:12628589 PMID:12673584 PMID:12730724 PMID:12837857 PMID:12910492 PMID:14209286 PMID:14508510 PMID:14512370 PMID:14570618 PMID:14624402 PMID:14675545 PMID:14749324 PMID:14974088 PMID:14993243 PMID:15015036 PMID:15035285 PMID:15068387 PMID:15100232 PMID:15172466 PMID:15199436 PMID:15200491 PMID:15241806 PMID:15256764 PMID:15303010 PMID:15359125 PMID:15494314 PMID:15523646 PMID:15528480 PMID:15556092 PMID:15556093 PMID:15556094 PMID:15576851 PMID:15633194 PMID:15701167 PMID:15741231 PMID:15823276 PMID:15823280 PMID:15823288 PMID:15864114 PMID:15885240 PMID:15890894 PMID:15899484 PMID:15914792 PMID:15936313 PMID:15952897 PMID:15998910 PMID:16092059 PMID:16099208 PMID:16115486 PMID:16159606 PMID:16183066 PMID:16199547 PMID:16205024 PMID:16250003 PMID:16314194 PMID:16343504 PMID:16389549 PMID:16424354 PMID:16465405 PMID:16466730 PMID:16502360 PMID:16542394 PMID:16546193 PMID:16627557 PMID:16630895 PMID:16735037 PMID:16740646 PMID:16792510 PMID:16796766 PMID:16806138 PMID:17044844 PMID:17087781 PMID:17094996 PMID:17142622 PMID:17196209 PMID:17335829 PMID:17347910 PMID:17353666 PMID:17406740 PMID:17408384 PMID:17426749 PMID:17445538 PMID:17539906 PMID:17576681 PMID:17673191 PMID:17694954 PMID:17761685 PMID:17765246 PMID:17935672 PMID:17950741 PMID:17955342 PMID:17964958 PMID:18096825 PMID:18206115 PMID:18239150 PMID:18243212 PMID:18263977 PMID:18279815 PMID:18325082 PMID:18339137 PMID:18355452 PMID:18400033 PMID:18503695 PMID:18607183 PMID:18648394 PMID:18677035 PMID:18700895 PMID:18718593 PMID:18757057 PMID:18847225 PMID:18929537 PMID:19007590 PMID:19013141 PMID:19026292 PMID:19040724 PMID:19060911 PMID:19062533 PMID:19073363 PMID:19081415 PMID:19118540 PMID:19148831 PMID:19208450 PMID:19318025 PMID:19319977 PMID:19361455 PMID:19371225 PMID:19411563 PMID:19446849 PMID:19467224 PMID:19487412 PMID:19538517 PMID:19544207 PMID:19602640 PMID:19674976 PMID:19717150 PMID:19797716 PMID:19837725 PMID:19843101 PMID:20006333 PMID:20018285 PMID:20019594 PMID:20045108 PMID:20089850 PMID:20091938 PMID:20144596 PMID:20145306 PMID:20217239 PMID:20236128 PMID:20428891 PMID:20452591 PMID:20506408 PMID:20538126 PMID:20663204 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20962452 PMID:20964105 PMID:20981092 PMID:21115573 PMID:21145767 PMID:21146822 PMID:21157333 PMID:21252755 PMID:21261563 PMID:21276076 PMID:21310417 PMID:21376320 PMID:21377952 PMID:21382890 PMID:21418584 PMID:21475731 PMID:21511053 PMID:21531209 PMID:21538688 PMID:21642693 PMID:21722902 PMID:21829380 PMID:21865347 PMID:21868016 PMID:21872251 PMID:21925044 PMID:21925660 PMID:21935675 PMID:21957200 PMID:21990180 PMID:22081141 PMID:22089669 PMID:22091758 PMID:22095935 PMID:22160468 PMID:22177269 PMID:22220933 PMID:22244043 PMID:22293196 PMID:22294733 PMID:22311046 PMID:22353362 PMID:22371747 PMID:22390909 PMID:22417841 PMID:22461740 PMID:22487947 PMID:22509010 PMID:22528129 PMID:22683370 PMID:22698793 PMID:22836070 PMID:22859806 PMID:22881376 PMID:22883975 PMID:22910581 PMID:22923420 PMID:22995991 PMID:23021490 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23155708 PMID:23340035 PMID:23345538 PMID:23369702 PMID:23375686 PMID:23510778 PMID:23536757 PMID:23537714 PMID:23538283 PMID:23669246 PMID:23680767 PMID:23733886 PMID:23769672 PMID:23815734 PMID:23820649 PMID:23833242 PMID:23936638 PMID:23997648 PMID:24014831 PMID:24033266 PMID:24055113 PMID:24075752 PMID:24082139 PMID:24088637 PMID:24103783 PMID:24163242 PMID:24234650 PMID:24281370 PMID:24284361 PMID:24336170 PMID:24338390 PMID:24373485 PMID:24420163 PMID:24503134 PMID:24507775 PMID:24529145 PMID:24561735 PMID:24585268 PMID:24627126 PMID:24632281 PMID:24671153 PMID:24722143 PMID:24798328 PMID:24916650 PMID:24918045 PMID:24956927 PMID:24988984 PMID:25014035 PMID:25043216 PMID:25154303 PMID:25234566 PMID:25248394 PMID:25257073 PMID:25282520 PMID:25333069 PMID:25378237 PMID:25386756 PMID:25395200 PMID:25412742 PMID:25414273 PMID:25437892 PMID:25461735 PMID:25463123 PMID:25487149 PMID:25525159 PMID:25545329 PMID:25606447 PMID:25618577 PMID:25637381 PMID:25647241 PMID:25682026 PMID:25682442 PMID:25740221 PMID:25741862 PMID:25741868 PMID:25741870 PMID:25741871 PMID:25741872 PMID:25741873 PMID:25756439 PMID:25775905 PMID:25781017 PMID:25839937 PMID:25846081 PMID:25887683 PMID:25911074 PMID:25911080 PMID:25921077 PMID:25936317 PMID:25936346 PMID:25962062 PMID:25985138 PMID:26020417 PMID:26036859 PMID:26046366 PMID:26077743 PMID:26081744 PMID:26220972 PMID:26228681 PMID:26238499 PMID:26327206 PMID:26332594 PMID:26342331 PMID:26343872 PMID:26345093 PMID:26361156 PMID:26366554 PMID:26371983 PMID:26415676 PMID:26433113 PMID:26467025 PMID:26510755 PMID:26608663 PMID:26632531 PMID:26633542 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26723464 PMID:26748104 PMID:26755827 PMID:26795593 PMID:26802169 PMID:26833332 PMID:26875521 PMID:26892515 PMID:26894473 PMID:26908947 PMID:26927322 PMID:27044878 PMID:27050191 PMID:27135400 PMID:27153395 PMID:27175606 PMID:27185354 PMID:27206935 PMID:27206941 PMID:27206942 PMID:27247956 PMID:27294413 PMID:27365335 PMID:27497240 PMID:27542166 PMID:27578104 PMID:27578108 PMID:27578117 PMID:27578127 PMID:27578128 PMID:27596133 PMID:27678436 PMID:27680772 PMID:27765764 PMID:27777316 PMID:27783906 PMID:27784735 PMID:27816806 PMID:27821657 PMID:27824480 PMID:27828139 PMID:27830735 PMID:27831900 PMID:27854218 PMID:27878139 PMID:27884173 PMID:27895090 PMID:27919346 PMID:27919364 PMID:27932355 PMID:27940769 PMID:27998977 PMID:28008010 PMID:28028493 PMID:28087566 PMID:28104544 PMID:28126585 PMID:28145427 PMID:28159968 PMID:28161202 PMID:28166811 PMID:28169869 PMID:28179607 PMID:28220743 PMID:28235710 PMID:28334946 PMID:28349240 PMID:28349888 PMID:28353356 PMID:28379029 PMID:28391882 PMID:28432645 PMID:28458923 PMID:28475941 PMID:28492532 PMID:28502495 PMID:28502510 PMID:28619117 PMID:28645073 PMID:28873201 PMID:28895539 PMID:28932795 PMID:28958694 PMID:28964736 PMID:28965616 PMID:28993407 PMID:29083407 PMID:29172679 PMID:29192238 PMID:29213121 PMID:29233637 PMID:29245966 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29292049 PMID:29306853 PMID:29353225 PMID:29396260 PMID:29399563 PMID:29407885 PMID:29502162 PMID:29531935 PMID:29572815 PMID:29576406 PMID:29693183 PMID:29720182 PMID:29870584 PMID:29874871 PMID:29937437 PMID:29974534 PMID:30016271 PMID:30017729 PMID:30019023 PMID:30108616 PMID:30112042 PMID:30179711 PMID:30241732 PMID:30270055 PMID:30270076 PMID:30270081 PMID:30270082 PMID:30270083 PMID:30270084 PMID:30270091 PMID:30270359 PMID:30292637 PMID:30293936 PMID:30312929 PMID:30318454 PMID:30333156 PMID:30400955 PMID:30413722 PMID:30415195 PMID:30512145 PMID:30526649 PMID:30583242 PMID:30586733 PMID:30592178 PMID:30592719 PMID:30617148 PMID:30637778 PMID:30649024 PMID:30710474 PMID:30745730 PMID:30777337 PMID:30778614 PMID:30795984 PMID:30876527 PMID:30876530 PMID:30949068 PMID:30971288 PMID:30975109 PMID:31048103 PMID:31102204 PMID:31106297 PMID:31106925 PMID:31153816 PMID:31153847 PMID:31213876 PMID:31241493 PMID:31345425 PMID:31387896 PMID:31395865 PMID:31401775 PMID:31447099 PMID:31491741 PMID:31578082 PMID:31589614 PMID:31617323 PMID:31653860 PMID:31686828 PMID:31706281 PMID:31727422 PMID:31746944 PMID:31947532 PMID:31980526 PMID:31993549 PMID:32015373 PMID:32041611 PMID:32044282 PMID:32088152 PMID:32104752 PMID:32113782 PMID:32143996 PMID:32154576 PMID:32163632 PMID:32165824 PMID:32220565 PMID:32231684 PMID:32242544 PMID:32331935 PMID:32423031 PMID:32443900 PMID:32466883 PMID:32489792 PMID:32522009 PMID:32581083 PMID:32629184 PMID:32660911 PMID:32675277 PMID:32695144 PMID:32710294 PMID:32715071 PMID:32719484 PMID:32759540 PMID:32770674 PMID:32800790 PMID:32820175 PMID:32829317 PMID:32878475 PMID:32892247 PMID:32897268 PMID:32906206 PMID:32922439 PMID:32977124 PMID:32989269 PMID:33020668 PMID:33027386 PMID:33032808 PMID:33069457 PMID:33079599 PMID:33087929 PMID:33093846 PMID:33111339 PMID:33194883 PMID:33211673 PMID:33226606 PMID:33231818 PMID:33258288 PMID:33269076 PMID:33303402 PMID:33391333 PMID:33418990 PMID:33454241 PMID:33508743 PMID:33533259 PMID:33547002 PMID:33569482 PMID:33599434 PMID:33732287 PMID:33740630 PMID:33746137 PMID:33794673 PMID:33807407 PMID:33854068 PMID:33890362 PMID:33955087 PMID:33975813 PMID:33992589 PMID:33994402 PMID:34011801 PMID:34029164 PMID:34037665 PMID:34040191 PMID:34074024 PMID:34167030 PMID:34176852 PMID:34234266 PMID:34249980 PMID:34297352 PMID:34321884 PMID:34363016 PMID:34379075 PMID:34407635 PMID:34426522 PMID:34428338 PMID:34456049 PMID:34456200 PMID:34496902 PMID:34511120 PMID:34526433 PMID:34570182 PMID:34573395 PMID:34834584 PMID:34869944 PMID:34906454 PMID:34906840 PMID:34998859 PMID:35047021 PMID:35052492 PMID:35101175 PMID:35137788 PMID:35177841 PMID:35222550 PMID:35249492 PMID:35274909 PMID:35319679 PMID:35339733 PMID:35379577 PMID:35460704 PMID:35474963 PMID:35480308 PMID:35535697 PMID:35568682 PMID:35626767 PMID:35631530 PMID:35741760 PMID:35753512 PMID:35795214 PMID:35910211 PMID:35913489 PMID:35928446 PMID:35929461 PMID:35999587 PMID:36011335 PMID:36105085 PMID:36172582 PMID:36184534 PMID:36226792 PMID:36229376 PMID:36229885 PMID:36267056 PMID:36325061 PMID:36422519 PMID:36499307 PMID:36507290 PMID:36727130 PMID:36769678 PMID:36901902 PMID:36960729 PMID:36973604 PMID:37119068 PMID:37129685 PMID:37719435 PMID:37848354 PMID:220236128 PMID:283553356 PMID:329777124 PMID:1867200 PMID:16796766 PMID:15118671 More...
RGD:5490248 , RGD:1581824 , RGD:1331525
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Ldlrap1
low density lipoprotein receptor adaptor protein 1
ISO
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:17380167
RGD:1626106
NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
G
Lipc
lipase C, hepatic type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16030523
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
G
Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16030523
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:16280123
RGD:1642031
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mttp
microsomal triglyceride transfer protein
ISO
RGD
PMID:17215532
RGD:1625482
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
G
Pcsk9
proprotein convertase subtilisin/kexin type 9
severity
ISO
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B DNA:missense mutation:cds:p.D374Y (human) DNA:missense mutations:cds:p.S127R, p.F216L (human)
ClinVar RGD
PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 PMID:15654334 PMID:15893176 PMID:16183066 PMID:16211558 PMID:16314194 PMID:16424354 PMID:16465619 PMID:16554528 PMID:16571601 PMID:16912035 PMID:17094996 PMID:17140581 PMID:17170371 PMID:17316651 PMID:17380167 PMID:17461796 PMID:17502126 PMID:17765244 PMID:17804797 PMID:17971861 PMID:18197702 PMID:18262190 PMID:18266662 PMID:18300938 PMID:18354102 PMID:18710658 PMID:18718593 PMID:18799458 PMID:19001363 PMID:19022446 PMID:19081568 PMID:19191301 PMID:19351729 PMID:19797716 PMID:19917273 PMID:20006333 PMID:20031607 PMID:20172854 PMID:20579540 PMID:20623344 PMID:20959675 PMID:21146822 PMID:21722902 PMID:21943799 PMID:22095935 PMID:22923420 PMID:22995991 PMID:23064986 PMID:23095242 PMID:23105118 PMID:23247049 PMID:23375686 PMID:23386946 PMID:23535506 PMID:23663650 PMID:23680767 PMID:23726366 PMID:23743349 PMID:23935525 PMID:24033266 PMID:24252255 PMID:24507774 PMID:24507775 PMID:24793346 PMID:24808179 PMID:24859021 PMID:25014035 PMID:25046268 PMID:25278291 PMID:25412415 PMID:25741868 PMID:25744035 PMID:25904937 PMID:25962062 PMID:26020417 PMID:26049403 PMID:26195630 PMID:26332594 PMID:26374825 PMID:26467025 PMID:26541928 PMID:26546829 PMID:26632531 PMID:26633542 PMID:26636822 PMID:26688439 PMID:26902539 PMID:26911352 PMID:26937405 PMID:27135400 PMID:27206942 PMID:27218270 PMID:27280970 PMID:27516387 PMID:27765764 PMID:27919364 PMID:28008010 PMID:28179607 PMID:28302345 PMID:28323660 PMID:28349888 PMID:28360401 PMID:28438747 PMID:28492532 PMID:28587771 PMID:28768753 PMID:28777095 PMID:28784313 PMID:28965616 PMID:28994502 PMID:29036232 PMID:29083407 PMID:29127338 PMID:29259136 PMID:29261184 PMID:29386597 PMID:29459468 PMID:29593013 PMID:29724976 PMID:29802317 PMID:29982529 PMID:29997226 PMID:30241732 PMID:30293936 PMID:30526649 PMID:30710474 PMID:30779729 PMID:30971288 PMID:31106297 PMID:31491741 PMID:31589614 PMID:31949048 PMID:31993549 PMID:32044282 PMID:32058034 PMID:32719484 PMID:33091218 PMID:33147992 PMID:33231818 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33533259 PMID:33955087 PMID:34037665 PMID:34074024 PMID:34297352 PMID:34407635 PMID:34521694 PMID:34526433 PMID:34948399 PMID:35047021 PMID:35910211 PMID:35929461 PMID:36087353 PMID:36499307 PMID:37469559 PMID:17380167 PMID:14727179 PMID:15772090 PMID:12730697 More...
RGD:1626106 , RGD:1581002 , RGD:1581001 , RGD:1580998
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16030523 PMID:16238680
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Pon2
paraoxonase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16030523
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
G
Apoa5
apolipoprotein A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16143024
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
G
Apoc3
apolipoprotein C3
ISO
RGD
PMID:2879788
RGD:1578447
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Apoe
apolipoprotein E
susceptibility
ISO
ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) DNA:missense mutation:cds:p.R158C (human) DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 PMID:2556398 PMID:2992507 PMID:3029073 PMID:3038959 PMID:3243553 PMID:3721502 PMID:3745433 PMID:3771793 PMID:6300187 PMID:6795720 PMID:7175379 PMID:7635945 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9176854 PMID:9279208 PMID:9360638 PMID:9649566 PMID:10587578 PMID:11500500 PMID:12506591 PMID:12774036 PMID:15096402 PMID:15256764 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 PMID:15118671 PMID:7175379 PMID:199847 More...
RGD:1331525 , RGD:14401584 , RGD:12880367
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia
ClinVar
PMID:20809525 PMID:25741868 PMID:28492532 PMID:28645073 PMID:33740630
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Ldlrap1
low density lipoprotein receptor adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
G
Apoa5
apolipoprotein A5
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
G
Apoa5
apolipoprotein A5
susceptibility
ISO
ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:12417524 PMID:12417525 PMID:16200213 PMID:16806135 PMID:18324930 PMID:19447388 PMID:21993410 PMID:23151256 PMID:23307945 PMID:24591733 PMID:24793350 PMID:25487149 PMID:25741868 PMID:26046366 PMID:27108409 PMID:27578109 PMID:27678447 PMID:28492532 PMID:28951076 PMID:29954705 PMID:31619059 PMID:31980526 PMID:32041611 PMID:33111339 PMID:33462484 More...
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
G
Abcc6
ATP binding cassette subfamily C member 6
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
G
Apoa4
apolipoprotein A4
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:226830
RGD:5685673
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
G
Apoa5
apolipoprotein A5
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human)
RGD
PMID:18468520
RGD:2313317
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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Apoc2
apolipoprotein C2
susceptibility
ISO
protein:increased expression:serum DNA:missense mutation: :p.L72P (human)
RGD
PMID:1468157 PMID:16153625
RGD:1601208 , RGD:1601204
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Apoc3
apolipoprotein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2022742
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoh
apolipoprotein H
ISO
RGD
PMID:6613192
RGD:2313992
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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Hnf1a
HNF1 homeobox A
susceptibility
ISO
DNA:polymorphism:cd: p.I27L (human)
RGD
PMID:12788852
RGD:329901805
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Lipc
lipase C, hepatic type
IDA ISO
associated with Nephrosis; protein:decreased expression:plasma (rat) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
CTD RGD
PMID:18160998 PMID:6480830 PMID:11427226 PMID:15941898
RGD:2308798 , RGD:2308834 , RGD:2308829
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Pon1
paraoxonase 1
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15324535 PMID:11015468 PMID:15324535
RGD:731237 , RGD:8547684
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10828087
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Serpinf2
serpin family F member 2
ISO
RGD
PMID:6121140
RGD:1625537
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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Pigb
phosphatidylinositol glycan anchor biosynthesis, class B
ISO
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1
ClinVar
PMID:25326635 PMID:25741868 PMID:31256876
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
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Pigg
phosphatidylinositol glycan anchor biosynthesis, class G
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2
ClinVar
PMID:25741868 PMID:26996948 PMID:28492532
NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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Pigl
phosphatidylinositol glycan anchor biosynthesis, class L
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2
ClinVar
NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1
ClinVar
PMID:25741868
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Pigv
phosphatidylinositol glycan anchor biosynthesis, class V
ISO
DNA:missense mutations:CDS:multiple (human) ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME
OMIM ClinVar RGD
PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28688840 PMID:20802478 More...
RGD:243048420
NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533
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Pgap3
post-GPI attachment to proteins phospholipase 3
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4
OMIM ClinVar
PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 PMID:24439110 PMID:25741868 PMID:27120253 PMID:28327575 PMID:28390064 PMID:28492532 PMID:29310717 PMID:29531774 PMID:29620724 PMID:30217754 PMID:30345601 PMID:32845056 PMID:32860008 PMID:34582790 PMID:35887114 More...
NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4
ClinVar
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Aatf
apoptosis antagonizing transcription factor
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201
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Acaca
acetyl-CoA carboxylase alpha
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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C10h17orf78
similar to human chromosome 17 open reading frame 78
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113
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Ddx52
DExD-box helicase 52
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266
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Dhrs11
dehydrogenase/reductase 11
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295
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Dusp14
dual specificity phosphatase 14
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329
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Ggnbp2
gametogenetin binding protein 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365
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Hnf1b
HNF1 homeobox B
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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Lhx1
LIM homeobox 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617
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Mrm1
mitochondrial rRNA methyltransferase 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709
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Myo19
myosin XIX
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:30679815 PMID:30813920 PMID:32198969 PMID:32466763 More...
NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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Pigw
phosphatidylinositol glycan anchor biosynthesis, class W
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
OMIM ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24367057 PMID:24905847 PMID:25741868 PMID:26123568 PMID:27626616 PMID:28492532 PMID:30679815 PMID:30813920 PMID:31604004 PMID:32198969 PMID:32466763 More...
NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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Synrg
synergin, gamma
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250
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Tada2a
transcriptional adaptor 2A
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105
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Acaca
acetyl-CoA carboxylase alpha
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Acacb
acetyl-CoA carboxylase beta
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
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Acot1
acyl-CoA thioesterase 1
treatment
IDA
RGD
PMID:23994635
RGD:13831127
NCBI chr 6:103,636,173...103,644,167
Ensembl chr 6:103,636,041...103,644,163
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Acp1
acid phosphatase 1
ISO
associated with Obesity
RGD
PMID:12409270
RGD:1625288
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
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Ada
adenosine deaminase
treatment
IEP
RGD
PMID:30280312
RGD:152995395
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with HIV Infections
RGD
PMID:21595566
RGD:8694463
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adrb2
adrenoceptor beta 2
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ahr
aryl hydrocarbon receptor
treatment
IEP
RGD
PMID:23644946
RGD:401794573
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Ahsg
alpha-2-HS-glycoprotein
ISO
protein:increased expression:serum
RGD
PMID:19228823
RGD:2313809
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32045588
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Angptl3
angiopoietin-like 3
ISO
RGD
PMID:12672813
RGD:1578347
NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
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Angptl4
angiopoietin-like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28842503
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
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Apoa1
apolipoprotein A1
no_association treatment
ISO IEP
DNA:polymorphism:promoter:-75G>A
RGD
PMID:7910586 PMID:23644946
RGD:1601187 , RGD:401794573
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa2
apolipoprotein A2
ISO
DNA:polymorphism
RGD
PMID:9489233
RGD:1601190
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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Apoa4
apolipoprotein A4
ISO
human gene in mouse model
RGD
PMID:2167514
RGD:5685672
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apoa5
apolipoprotein A5
IEP ISO
ClinVar Annotator: match by term: Hypertriglyceridemia CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human)
ClinVar CTD RGD
PMID:18324930 PMID:19447388 PMID:20657596 PMID:23151256 PMID:23307945 PMID:24591733 PMID:24793350 PMID:25487149 PMID:25741868 PMID:27108409 PMID:28492532 PMID:32041611 PMID:16238453 PMID:12818421 PMID:18468520 More...
RGD:2313328 , RGD:1578414 , RGD:2313317
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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Apob
apolipoprotein B
IEP ISO
protein:increased expression:plasma (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20657596 PMID:8121310
RGD:11353966
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoc1
apolipoprotein C1
ISO
protein:increased expression:plasma
RGD
PMID:3757210
RGD:2313953
NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
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Apoc2
apolipoprotein C2
susceptibility
ISO
RGD
PMID:3944267 PMID:7590197
RGD:1601214 , RGD:1601205
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Apoc3
apolipoprotein C3
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism
RGD
PMID:7705829 PMID:15715433
RGD:1578444 , RGD:2306767
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
susceptibility
ISO IMP
associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
RGD GAD
PMID:15713714 PMID:28808185 PMID:15118671
RGD:1601235 , RGD:13703132 , RGD:1331525
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bche
butyrylcholinesterase
ISO
associated with diabetes mellitus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23000450 PMID:8149699
RGD:1601335
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Cela2a
chymotrypsin like elastase 2A
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia
ClinVar
PMID:25741868 PMID:31358993
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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Cftr
CF transmembrane conductance regulator
ISO
associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human)
RGD
PMID:17981921
RGD:11566035
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Crp
C-reactive protein
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11893366
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
treatment
IEP
RGD
PMID:23644946
RGD:401794573
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dgat1
diacylglycerol O-acyltransferase 1
treatment
ISO
RGD
PMID:18183944
RGD:10401058
NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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Dgat2
diacylglycerol O-acyltransferase 2
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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F7
coagulation factor VII
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:19329212
RGD:2312379
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fabp2
fatty acid binding protein 2
ISO
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human)
RGD
PMID:16919542 PMID:10999802
RGD:1626401 , RGD:1300313
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
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Fasn
fatty acid synthase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:22947172
RGD:10449176
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gckr
glucokinase regulator
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs,haplotypes: (rs780094) (human) ClinVar Annotator: match by term: Hypertriglyceridemia
CTD ClinVar RGD
PMID:20657596 PMID:22182842 PMID:25741868 PMID:28492532 PMID:27599772
RGD:401794577
NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
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Gfpt1
glutamine fructose-6-phosphate transaminase 1
ISO
RGD
PMID:11118009
RGD:1625423
NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
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Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
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Gpr55
G protein-coupled receptor 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30148676
NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613
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Gpx3
glutathione peroxidase 3
ISO
associated with coronary artery disease;DNA:SNP: :rs3828599 (human)
RGD
PMID:31396447
RGD:401827159
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
RGD
PMID:16804065
RGD:1601642
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Il6st
interleukin 6 cytokine family signal transducer
IDA
RGD
PMID:8843746
RGD:1626687
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754275
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Insig1
insulin induced gene 1
severity
ISO
associated with Obesity
RGD
PMID:15096598
RGD:2308857
NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952
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Insig2
insulin induced gene 2
severity
ISO
associated with Obesity
RGD
PMID:15096598
RGD:2308857
NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923
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Lamc1
laminin subunit gamma 1
susceptibility
ISO
DNA:SNPs,haplotypes: (rs10911205) (human)
RGD
PMID:27599772
RGD:401794577
NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
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Lcat
lecithin cholesterol acyltransferase
ISO
RGD
PMID:14668345
RGD:1581782
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
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Ldlr
low density lipoprotein receptor
IMP
RGD
PMID:28469073 PMID:27378433
RGD:12910100 , RGD:12910104
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Ldlrem1
low density lipoprotein receptor; ZFN induced mutant 1
IMP
RGD
PMID:27378433
RGD:12910104
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Ldlrem1Sage
low density lipoprotein receptor; ZFN induced mutant 1, Sage
IMP
RGD
PMID:28469073
RGD:12910100
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Lep
leptin
IMP
RGD
PMID:22948215
RGD:12904911
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepem1Sage
leptin; zinc finger nuclease induced mutant1, Sage
IMP
RGD
PMID:22948215
RGD:12904911
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Lipc
lipase C, hepatic type
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
RGD
PMID:187516
RGD:2308846
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lipe
lipase E, hormone sensitive type
IDA
RGD
PMID:11016888
RGD:2313581
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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Lipi
lipase I
susceptibility
ISO
DNA:polymorphism: :p.C55Y
RGD
PMID:12719377
RGD:1625450
NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985
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Lmf1
lipase maturation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17994020
NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
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Lpl
lipoprotein lipase
susceptibility
IDA ISO
ClinVar Annotator: match by term: Hypertriglyceridemia CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar CTD RGD
PMID:8147947 PMID:20657596 PMID:25741868 PMID:11016888 PMID:17848837 PMID:16431216 More...
RGD:2313581 , RGD:2313305 , RGD:1580533
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Lrp1b
LDL receptor related protein 1B
treatment
HDA
RGD
PMID:30905023
RGD:151665141
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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Lta
lymphotoxin alpha
susceptibility no_association
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent DNA:polymorphism
RGD
PMID:7783649 PMID:9245742
RGD:1625036 , RGD:1625035
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32045588
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mlxipl
MLX interacting protein-like
treatment susceptibility
IEP ISO
DNA:SNPs,haplotypes: (rs17145738) (human)
RGD
PMID:26394137 PMID:27599772
RGD:329955565 , RGD:401794577
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Mlycd
malonyl-CoA decarboxylase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mtor
mechanistic target of rapamycin kinase
IMP
associated with Insulin Resistance
RGD
PMID:20566415
RGD:10040984
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Ndufb6
NADH:ubiquinone oxidoreductase subunit B6
IEP
associated with obesity
RGD
PMID:20729114
RGD:13801195
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
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Nos3
nitric oxide synthase 3
IEP
protein:decreased expression:aorta
RGD
PMID:17824809
RGD:2292131
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
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Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:18787522
RGD:2314464
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
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Pklr
pyruvate kinase L/R
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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Plin2
perilipin 2
ISO
associated with Obesity
RGD
PMID:17484887
RGD:1625752
NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319
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Pltp
phospholipid transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754275
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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Pon1
paraoxonase 1
treatment
IEP
RGD
PMID:23644946
RGD:401794573
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ppargc1a
PPARG coactivator 1 alpha
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppargc1b
PPARG coactivator 1 beta
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
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Rbp4
retinol binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:29747616
RGD:329849113
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Rps12
ribosomal protein S12
IEP
associated with Metabolic Syndrome X;mRNA:increased expression:liver
RGD
PMID:25294893
RGD:11039460
NCBI chr 1:21,680,854...21,683,010
Ensembl chr 1:21,680,852...21,683,014
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Scd
stearoyl-CoA desaturase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpinf2
serpin family F member 2
ISO
protein:increased expression:plasma
RGD
PMID:9207984
RGD:1625533
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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Socs1
suppressor of cytokine signaling 1
ISO
associated with Obesity
RGD
PMID:15240880
RGD:1625677
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Socs3
suppressor of cytokine signaling 3
ISO
associated with Obesity
RGD
PMID:15240880
RGD:1625677
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Sod2
superoxide dismutase 2
ISO
associated with coronary artery disease;DNA:SNP: :rs4880 (human)
RGD
PMID:31396447
RGD:401827159
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
associated with coronary artery disease;DNA:SNP: :rs2536512, rs2855262 (human)
RGD
PMID:31396447
RGD:401827159
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Srebf1
sterol regulatory element binding transcription factor 1
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Trib1
tribbles pseudokinase 1
susceptibility
ISO
DNA:SNPs,haplotypes: (rs6982502) (human)
RGD
PMID:27599772
RGD:401794577
NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731
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Trpm1
transient receptor potential cation channel, subfamily M, member 1
ISO
DNA:SNP:intron:g.59080C>T (rs11070811) (human)
RGD
PMID:21439949
RGD:7175561
NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
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Txnip
thioredoxin interacting protein
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr
RGD
PMID:17381501
RGD:1642750
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Vldlr
very low density lipoprotein receptor
IEP
associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle
RGD
PMID:9507207
RGD:1625577
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Xbp1
X-box binding protein 1
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Apoa5
apolipoprotein A5
susceptibility
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia 1
ClinVar OMIM
PMID:11588264 PMID:12417524 PMID:12417525 PMID:12915450 PMID:18324930 PMID:19447388 PMID:23151256 PMID:23307945 PMID:24387992 PMID:24591733 PMID:24793350 PMID:25487149 PMID:25741868 PMID:26046366 PMID:27108409 PMID:28492532 PMID:29954705 PMID:31980526 PMID:32041611 PMID:33462484 More...
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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Creb3l3
cAMP responsive element binding protein 3-like 3
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia 1
ClinVar
PMID:21666694 PMID:25741868 PMID:28492532 PMID:31619059 PMID:32041611
NCBI chr 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048
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Lipi
lipase I
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia 1
ClinVar
PMID:12719377 PMID:28492532
NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985
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Rp1
RP1, axonemal microtubule associated
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia 1
ClinVar
PMID:12764676 PMID:20664799 PMID:25741868 PMID:28492532
NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
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Creb3l3
cAMP responsive element binding protein 3-like 3
ISO
ClinVar Annotator: match by term: Hypertriglyceridemia 2
OMIM ClinVar
PMID:21666694 PMID:25741868 PMID:26427795 PMID:28492532
NCBI chr 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048
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Gpd1
glycerol-3-phosphate dehydrogenase 1
ISO
ClinVar Annotator: match by term: GPD1-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:22226083 PMID:24549054 PMID:25741868 PMID:28492532 PMID:32591995 PMID:32685347 More...
NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529
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Abca1
ATP binding cassette subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
CTD ClinVar
PMID:7945562 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 PMID:11257261 PMID:12624133 PMID:12763760 PMID:15019541 PMID:15297675 PMID:15486467 PMID:15520867 PMID:15790791 PMID:15935359 PMID:16226177 PMID:16343503 PMID:16372134 PMID:16429166 PMID:16704350 PMID:16806540 PMID:16855366 PMID:16873719 PMID:17303779 PMID:17383594 PMID:18523221 PMID:18776170 PMID:19202195 PMID:19596329 PMID:19743957 PMID:20011639 PMID:20418488 PMID:20427018 PMID:20533173 PMID:20800056 PMID:20849526 PMID:20880529 PMID:20981092 PMID:21315358 PMID:21575609 PMID:21860089 PMID:21875686 PMID:22923420 PMID:22959828 PMID:22995991 PMID:23087442 PMID:23136402 PMID:23139370 PMID:23152888 PMID:23559627 PMID:23685560 PMID:23770607 PMID:24036952 PMID:24497850 PMID:24503134 PMID:24894453 PMID:25215231 PMID:25741868 PMID:26073400 PMID:26079414 PMID:26255038 PMID:26350511 PMID:27745835 PMID:27884173 PMID:28492532 PMID:28634189 PMID:28870971 PMID:29083407 PMID:30333156 PMID:30945099 PMID:32041611 PMID:36053979 More...
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar
PMID:1901417 PMID:2108924 PMID:2123470 PMID:3141894 PMID:3142462 PMID:4304452 PMID:23209431 PMID:25741868 PMID:26530418 PMID:28492532 PMID:29083407 PMID:29353225 More...
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
susceptibility
ISO
protein:decreased expression:plasma ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar RGD
PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 PMID:1466657 PMID:1493642 PMID:1562615 PMID:1600334 PMID:1602000 PMID:1770316 PMID:1793440 PMID:1977310 PMID:2022744 PMID:2280177 PMID:2312735 PMID:2375782 PMID:2563166 PMID:2567736 PMID:2574033 PMID:2614276 PMID:2725600 PMID:2843815 PMID:2903181 PMID:3399894 PMID:3473077 PMID:3477815 PMID:3771801 PMID:7627691 PMID:7670940 PMID:7882518 PMID:7883971 PMID:8141833 PMID:8254047 PMID:8318509 PMID:8318993 PMID:8371062 PMID:8478017 PMID:8723684 PMID:8792774 PMID:8831935 PMID:8889592 PMID:8931699 PMID:8960785 PMID:9081691 PMID:9104431 PMID:9105560 PMID:9191540 PMID:9254062 PMID:9259199 PMID:9339363 PMID:9486979 PMID:9490296 PMID:9568749 PMID:9603795 PMID:9654205 PMID:9702952 PMID:9925662 PMID:10208479 PMID:10388479 PMID:10529757 PMID:10735632 PMID:10952765 PMID:11031227 PMID:11115503 PMID:11137107 PMID:11238294 PMID:11494965 PMID:11781700 PMID:11810272 PMID:11833852 PMID:11940084 PMID:11941481 PMID:12124991 PMID:12872264 PMID:14508510 PMID:14732481 PMID:15135245 PMID:15514099 PMID:15797858 PMID:15805152 PMID:16199547 PMID:16250003 PMID:17046772 PMID:17087781 PMID:17142622 PMID:17160438 PMID:17539906 PMID:17570373 PMID:17588943 PMID:17595251 PMID:17765246 PMID:17964958 PMID:17968143 PMID:18022922 PMID:18028451 PMID:18096825 PMID:18160469 PMID:18222178 PMID:18279815 PMID:18325181 PMID:18355452 PMID:18492086 PMID:18700895 PMID:18710658 PMID:19602640 PMID:20032471 PMID:20145306 PMID:20167924 PMID:20236128 PMID:20506408 PMID:20538126 PMID:20592474 PMID:20657596 PMID:20736250 PMID:20809525 PMID:20828696 PMID:20981092 PMID:21033204 PMID:21059979 PMID:21303902 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 PMID:21513517 PMID:21520333 PMID:21657943 PMID:21722902 PMID:21862702 PMID:21868016 PMID:21919778 PMID:21981844 PMID:22095935 PMID:22244043 PMID:22256951 PMID:22294733 PMID:22353362 PMID:22408029 PMID:22534770 PMID:22544856 PMID:22698793 PMID:22863191 PMID:22883975 PMID:22923420 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23375686 PMID:23593297 PMID:23680767 PMID:23685560 PMID:23775634 PMID:23833242 PMID:23936638 PMID:24033266 PMID:24106285 PMID:24234650 PMID:24404629 PMID:24498611 PMID:24503134 PMID:24507774 PMID:24507775 PMID:24607922 PMID:24627126 PMID:24751931 PMID:24784157 PMID:24892279 PMID:24956927 PMID:24987033 PMID:25335495 PMID:25430706 PMID:25461735 PMID:25647241 PMID:25712136 PMID:25741868 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26415676 PMID:26467025 PMID:26516186 PMID:26546829 PMID:26612772 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26688439 PMID:26690388 PMID:26802169 PMID:26892515 PMID:27153395 PMID:27206935 PMID:27206948 PMID:27365461 PMID:27497240 PMID:27516387 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27824480 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28405938 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28733173 PMID:28895539 PMID:28953935 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29192238 PMID:29233637 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29459468 PMID:29540175 PMID:29555771 PMID:29572815 PMID:29598884 PMID:29870584 PMID:30030251 PMID:30122538 PMID:30206226 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 PMID:30333156 PMID:30348779 PMID:30420299 PMID:30526649 PMID:30586733 PMID:30592178 PMID:30681615 PMID:30694319 PMID:30710474 PMID:30782561 PMID:30842500 PMID:30971288 PMID:31028937 PMID:31106297 PMID:31135820 PMID:31150472 PMID:31153816 PMID:31345425 PMID:31371270 PMID:31447099 PMID:31570899 PMID:31624253 PMID:31893465 PMID:31980526 PMID:32009526 PMID:32044282 PMID:32101375 PMID:32115487 PMID:32355288 PMID:32591292 PMID:32625235 PMID:32702746 PMID:32706999 PMID:32719484 PMID:32770674 PMID:33006316 PMID:33020668 PMID:33059327 PMID:33111339 PMID:33207932 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33489595 PMID:33508743 PMID:33519890 PMID:33740630 PMID:33875564 PMID:34037665 PMID:34297352 PMID:34426522 PMID:34445196 PMID:34456049 PMID:34650182 PMID:34875256 PMID:35047021 PMID:35052492 PMID:35276540 PMID:35339733 PMID:35741760 PMID:35761384 PMID:35910211 PMID:35913489 PMID:36105085 PMID:36190978 PMID:36196022 PMID:36499307 PMID:36555767 PMID:36973604 PMID:37593691 PMID:16728468 PMID:3473077 More...
RGD:1601203 , RGD:1599164
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoc2
apolipoprotein C2
ISO
protein:decreased expression:plasma
RGD
PMID:2242096
RGD:1601212
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Pcsk9
proprotein convertase subtilisin/kexin type 9
ISO
DNA:insertion:cds:c.43_44CTG (human) ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar RGD
PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 PMID:15654334 PMID:15893176 PMID:16183066 PMID:16211558 PMID:16314194 PMID:16424354 PMID:16465619 PMID:16554528 PMID:16571601 PMID:16912035 PMID:17094996 PMID:17140581 PMID:17170371 PMID:17316651 PMID:17380167 PMID:17461796 PMID:17502126 PMID:17765244 PMID:17804797 PMID:17921436 PMID:17971861 PMID:18197702 PMID:18262190 PMID:18266662 PMID:18300938 PMID:18354102 PMID:18559913 PMID:18710658 PMID:18799458 PMID:19001363 PMID:19022446 PMID:19081568 PMID:19191301 PMID:19249440 PMID:19351729 PMID:19797716 PMID:19917273 PMID:20006333 PMID:20031607 PMID:20172854 PMID:20579540 PMID:20623344 PMID:20959675 PMID:21146822 PMID:21943799 PMID:22095935 PMID:22923420 PMID:23095242 PMID:23105118 PMID:23375686 PMID:23386946 PMID:23663650 PMID:23726366 PMID:23743349 PMID:23935525 PMID:24033266 PMID:24252255 PMID:24278757 PMID:24507774 PMID:24507775 PMID:24785115 PMID:24808179 PMID:24859021 PMID:25014035 PMID:25046268 PMID:25278291 PMID:25412415 PMID:25600226 PMID:25741868 PMID:25744035 PMID:25904937 PMID:25962062 PMID:26020417 PMID:26049403 PMID:26195630 PMID:26332594 PMID:26374825 PMID:26467025 PMID:26541928 PMID:26546829 PMID:26632531 PMID:26633542 PMID:26636822 PMID:26688439 PMID:26802169 PMID:26902539 PMID:26937405 PMID:27135400 PMID:27206942 PMID:27218270 PMID:27280970 PMID:27516387 PMID:27765764 PMID:27919364 PMID:28008010 PMID:28179607 PMID:28302345 PMID:28323660 PMID:28360401 PMID:28438747 PMID:28492532 PMID:28587771 PMID:28768753 PMID:28777095 PMID:28784313 PMID:28965616 PMID:28994502 PMID:29083407 PMID:29127338 PMID:29259136 PMID:29261184 PMID:29438441 PMID:29459468 PMID:29593013 PMID:29724976 PMID:29748315 PMID:29997226 PMID:30146126 PMID:30241732 PMID:30270359 PMID:30293936 PMID:30710474 PMID:30971288 PMID:31106297 PMID:31491741 PMID:31949048 PMID:32044282 PMID:32058034 PMID:32719484 PMID:33091218 PMID:33147992 PMID:33231818 PMID:33258288 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33533259 PMID:34074024 PMID:34297352 PMID:34341098 PMID:34521694 PMID:34526433 PMID:35047021 PMID:35910211 PMID:35913489 PMID:35929461 PMID:36087353 PMID:36187800 PMID:36834740 PMID:37469559 PMID:16619215 More...
RGD:1580999
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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Pcsk9
proprotein convertase subtilisin/kexin type 9
ISO
ClinVar Annotator: match by term: Hypocholesterolemia
ClinVar
PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 PMID:18354102 PMID:19351729 PMID:19797716 PMID:19917273 PMID:20031607 PMID:20579540 PMID:22875854 PMID:23743349 PMID:24507774 PMID:25278291 PMID:25412415 PMID:25741868 PMID:26049403 PMID:26467025 PMID:27135400 PMID:27218270 PMID:27280970 PMID:27765764 PMID:28492532 PMID:28768753 PMID:28965616 PMID:29083407 PMID:29261184 PMID:29997226 PMID:30726226 PMID:30899674 PMID:31217584 PMID:32226016 PMID:33091218 More...
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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Ucp3
uncoupling protein 3
ISO
RGD
PMID:10935638
RGD:737762
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Abca1
ATP binding cassette subfamily A member 1
ISO
RGD
PMID:11086027
RGD:1600951
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Apoa1
apolipoprotein A1
ISO
RGD
PMID:9931341
RGD:734583
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Il1b
interleukin 1 beta
ISO
mRNA:increased expression:macrophage
RGD
PMID:17322100
RGD:1625405
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
OMIM ClinVar
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:28492532 PMID:29056344 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 More...
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Abcc10
ATP binding cassette subfamily C member 10
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,657,242...14,677,178
Ensembl chr 9:14,657,264...14,677,178
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Bicral
BICRA like chromatin remodeling complex associated protein
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,100,253...14,185,368
Ensembl chr 9:14,154,209...14,183,671
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Bysl
bystin-like
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,382,806...13,392,557
Ensembl chr 9:13,382,557...13,394,339
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C9h6orf132
similar to human chromosome 6 open reading frame 132
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,524,822...13,561,756
Ensembl chr 9:13,525,395...13,561,585
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C9h6orf226
smilar to human chromosome 6 open reading frame 226
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,207,988...14,209,134
Ensembl chr 9:14,208,417...14,208,761
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Ccnd3
cyclin D3
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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Cnpy3
canopy FGF signaling regulator 3
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
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Creb3l1
cAMP responsive element binding protein 3-like 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532
NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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Crip3
cysteine-rich protein 3
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,554,450...14,557,344
Ensembl chr 9:14,554,450...14,557,302
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Cry2
cryptochrome circadian regulator 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532
NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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Cul7
cullin 7
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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Cul9
cullin 9
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,435,948...14,479,552
Ensembl chr 9:14,436,111...14,479,548
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Dgkz
diacylglycerol kinase zeta
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532
NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
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Dlk2
delta like non-canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,677,102...14,681,584
Ensembl chr 9:14,676,562...14,681,594
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Dnph1
2'-deoxynucleoside 5'-phosphate N-hydrolase 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,481,296...14,484,034
Ensembl chr 9:14,481,066...14,484,022
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Foxp4
forkhead box P4
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
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Frey1
Frey regulator of sperm-oocyte fusion 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532
NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
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Frs3
fibroblast growth factor receptor substrate 3
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,288,559...13,297,285
Ensembl chr 9:13,288,667...13,295,382
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Gatad1
GATA zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease
ClinVar
PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21846392 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29419819 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31831025 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955814 PMID:34513757 More...
NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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Gnmt
glycine N-methyltransferase
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 PMID:28492532 More...
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
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Gtpbp2
GTP binding protein 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
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Guca1a
guanylate cyclase activator 1A
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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Guca1b
guanylate cyclase activator 1B
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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Klc4
kinesin light chain 4
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,337,164...14,351,075
Ensembl chr 9:14,337,534...14,351,066
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Klhdc3
kelch domain containing 3
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,302,345...14,308,736
Ensembl chr 9:14,302,354...14,308,736
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Large2
LARGE xylosyl- and glucuronyltransferase 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532
NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
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Lrrc73
leucine rich repeat containing 73
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,726,157...14,730,144
Ensembl chr 9:14,726,158...14,729,158
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Mad2l1bp
MAD2L1 binding protein
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,832,133...14,836,458
Ensembl chr 9:14,832,132...14,837,447
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Mapk8ip1
mitogen-activated protein kinase 8 interacting protein 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532
NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
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Mdfi
MyoD family inhibitor
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,156,806...13,175,218
Ensembl chr 9:13,156,866...13,175,217
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Mea1
male-enhanced antigen 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060
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Med20
mediator complex subunit 20
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,370,146...13,382,756
Ensembl chr 9:13,370,146...13,382,476
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Mrpl2
mitochondrial ribosomal protein L2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,333,233...14,337,006
Ensembl chr 9:14,333,234...14,337,040
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Mrps10
mitochondrial ribosomal protein S10
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,614,897...13,624,819
Ensembl chr 9:13,614,897...13,624,779
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Mrps18a
mitochondrial ribosomal protein S18A
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,853,322...14,869,819
Ensembl chr 9:14,853,291...14,869,835
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Ncr2
natural cytotoxicity triggering receptor 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:12,777,195...12,828,437
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Pex1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28468868 PMID:28492532 PMID:29419819 PMID:30362618 PMID:30561787 PMID:30733538 PMID:31319225 PMID:31374812 PMID:31742715 PMID:31831025 PMID:32056211 PMID:32203225 PMID:32214227 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955814 PMID:34513757 PMID:34744965 More...
NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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Pex10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20301621 PMID:20695019 PMID:21031596 PMID:21465523 PMID:25525159 PMID:25741868 PMID:27230853 PMID:28320181 PMID:28492532 PMID:30640048 More...
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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Pex11b
peroxisomal biogenesis factor 11 beta
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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Pex12
peroxisomal biogenesis factor 12
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum's disease
ClinVar
PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:16199547 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25326635 PMID:25741868 PMID:26094004 PMID:27124789 PMID:28492532 PMID:29389947 More...
NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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Pex13
peroxisomal biogenesis factor 13
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:10332040 PMID:21031596 PMID:25741868 PMID:28492532 PMID:33190326 PMID:35854306 More...
NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
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Pex16
peroxisomal biogenesis factor 16
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar
PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 PMID:20647552 PMID:20681997 PMID:24091540 PMID:25287621 PMID:25326635 PMID:25741868 PMID:27391121 PMID:28492532 PMID:30078639 PMID:31227335 PMID:35106698 More...
NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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Pex2
peroxisomal biogenesis factor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
CTD ClinVar
PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 PMID:10528859 PMID:10652207 PMID:10960480 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25333069 PMID:25741868 PMID:28089346 PMID:28492532 More...
NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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Pex26
peroxisomal biogenesis factor 26
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease
CTD ClinVar
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16257970 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25741868 PMID:26287655 PMID:26627908 PMID:27392320 PMID:28492532 PMID:28944237 PMID:29947050 PMID:30366024 PMID:30446579 More...
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Pex3
peroxisomal biogenesis factor 3
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:10942428 PMID:21031596 PMID:28492532
NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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Pex6
peroxisomal biogenesis factor 6
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
ClinVar
PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11355018 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16530715 PMID:17041890 PMID:17190851 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19763152 PMID:19877282 PMID:20301621 PMID:20307669 PMID:21031596 PMID:21520333 PMID:22406018 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24033266 PMID:24459294 PMID:25079577 PMID:25079599 PMID:25525159 PMID:25741868 PMID:26094004 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27007981 PMID:27302843 PMID:27604308 PMID:27779215 PMID:27848944 PMID:28492532 PMID:28857144 PMID:29047053 PMID:29220678 PMID:29419819 PMID:29676688 PMID:31216405 PMID:31374812 PMID:31555682 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32214787 PMID:32399598 PMID:33003980 PMID:33776059 PMID:34055681 PMID:34387732 PMID:34448047 PMID:34662339 PMID:36649687 PMID:36785559 PMID:37144748 More...
NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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Pgc
progastricsin
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,257,462...13,265,682
Ensembl chr 9:13,257,462...13,265,682
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Phf21a
PHD finger protein 21A
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532
NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
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Polh
DNA polymerase eta
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Ppp2r5d
protein phosphatase 2, regulatory subunit B', delta
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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Prickle4
prickle planar cell polarity protein 4
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,297,494...13,305,635
Ensembl chr 9:13,297,758...13,305,630
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Prph2
peripherin 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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Ptcra
pre T-cell antigen receptor alpha
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,218,907...14,229,141
Ensembl chr 9:14,218,802...14,229,235
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Ptk7
protein tyrosine kinase 7
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,352,155...14,418,473
Ensembl chr 9:14,351,202...14,418,494
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Rpl7l1
ribosomal protein L7-like 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,198,101...14,206,119
Ensembl chr 9:14,198,092...14,206,110
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Rrp36
ribosomal RNA processing 36
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,308,956...14,316,959
Ensembl chr 9:14,308,982...14,316,110
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Rsph9
radial spoke head component 9
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
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Slc22a7
solute carrier family 22 member 7
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,547,073...14,554,354
Ensembl chr 9:14,547,849...14,553,921
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Slc35c1
solute carrier family 35 member C1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532
NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
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Srf
serum response factor
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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Taf8
TATA-box binding protein associated factor 8
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
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Tbcc
tubulin folding cofactor C
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,098,855...14,100,043
Ensembl chr 9:14,098,868...14,100,042
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Tfeb
transcription factor EB
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,198,890...13,254,726
Ensembl chr 9:13,198,891...13,254,714
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Tjap1
tight junction associated protein 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,701,418...14,725,623
Ensembl chr 9:14,701,468...14,725,751
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Tomm6
translocase of outer mitochondrial membrane 6
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,304,269...13,305,637
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Treml2
triggering receptor expressed on myeloid cells-like 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:12,694,453...12,705,379
Ensembl chr 9:12,694,697...12,705,324
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Treml4
triggering receptor expressed on myeloid cells-like 4
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:12,718,968...12,743,879
Ensembl chr 9:12,721,815...12,743,253
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Trerf1
transcriptional regulating factor 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,631,619...13,858,326
Ensembl chr 9:13,634,126...13,857,029
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Ttbk1
tau tubulin kinase 1
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,493,166...14,538,372
Ensembl chr 9:14,493,389...14,535,774
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Ubr2
ubiquitin protein ligase E3 component n-recognin 2
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,982,427...14,062,315
Ensembl chr 9:13,982,329...14,062,139
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Usp49
ubiquitin specific peptidase 49
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:13,305,640...13,366,132
Ensembl chr 9:13,308,178...13,366,132
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Vegfa
vascular endothelial growth factor A
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xpo5
exportin 5
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Yipf3
Yip1 domain family, member 3
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,730,289...14,735,644
Ensembl chr 9:14,730,284...14,735,641
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Zfp318
zinc finger protein 318
ISO
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
NCBI chr 9:14,562,958...14,601,557
Ensembl chr 9:14,563,313...14,601,409
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Nr0b1
nuclear receptor subfamily 0, group B, member 1
ISO
ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated
ClinVar
PMID:17164309 PMID:25741868 PMID:28492532
NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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Kcnj6
potassium inwardly-rectifying channel, subfamily J, member 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome
OMIM CTD ClinVar
PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532
NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Galc
galactosylceramidase
ISO ISS
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell OMIM:245200 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8399327 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID:9536098 PMID:10234611 PMID:10448809 PMID:10464649 PMID:10477434 PMID:10833326 PMID:11003282 PMID:11151421 PMID:12699861 PMID:16199547 PMID:16607461 PMID:16759875 PMID:17576681 PMID:17579360 PMID:17824908 PMID:18846620 PMID:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24388568 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25640679 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26223439 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27171547 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27617109 PMID:27638583 PMID:27638592 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28855403 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30729410 PMID:30777126 PMID:31053700 PMID:31093932 PMID:31185936 PMID:31240153 PMID:31319225 PMID:31350907 PMID:31395954 PMID:31400137 PMID:31885218 PMID:32036093 PMID:32064984 PMID:32089546 PMID:32295525 PMID:32342562 PMID:32411386 PMID:32576985 PMID:32677356 PMID:32860008 PMID:32912261 PMID:32973651 PMID:33178108 PMID:33832819 PMID:34012265 PMID:34065072 PMID:34445196 PMID:34449528 PMID:35013804 PMID:35286032 PMID:35419325 PMID:35654103 PMID:36113749 PMID:2120388 More...
RGD:38599167
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
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Psap
prosaposin
ISS ISO
OMIM:245200 ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
MouseDO ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Cpt2
carnitine palmitoyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LATE-ONSET | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
CTD ClinVar OMIM
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:19762733 PMID:20301431 PMID:20661589 PMID:20810031 PMID:20830526 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:23911907 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:30957255 PMID:31372341 PMID:32295037 PMID:32528171 PMID:33123633 More...
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Sc5d
sterol-C5-desaturase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lathosterolosis
CTD ClinVar OMIM
PMID:12189593 PMID:12812989 PMID:24142275 PMID:25741868 PMID:28492532 PMID:30097991 More...
NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
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Ap1s1
adaptor related protein complex 1 subunit sigma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17175557
NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Asns
asparagine synthetase (glutamine-hydrolyzing)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17175557
NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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Depp1
DEPP autophagy regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr 4:149,910,794...149,913,013
Ensembl chr 4:149,910,779...149,914,542
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Fabp1
fatty acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
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Fads2
fatty acid desaturase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21123845
NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
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Fndc4
fibronectin type III domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
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Gdpd3
glycerophosphodiester phosphodiesterase domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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Hpn
hepsin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811
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Inhbe
inhibin subunit beta E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17175557
NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172
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Lss
lanosterol synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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Nr0b2
nuclear receptor subfamily 0, group B, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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Nupr1
nuclear protein 1, transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17175557
NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21123845
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21123845
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Slc2a3
solute carrier family 2 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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Srebf1
sterol regulatory element binding transcription factor 1
IEP
RGD
PMID:17524234
RGD:2308821
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srebf2
sterol regulatory element binding transcription factor 2
IEP
RGD
PMID:17524234
RGD:2308821
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Tagln
transgelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Wipi1
WD repeat domain, phosphoinositide interacting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15342952 PMID:16919414 PMID:17175557
NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846
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Ccr2
C-C motif chemokine receptor 2
ISO
protein:increased expression:liver,serum:
RGD
PMID:19277603
RGD:8657358
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Insr
insulin receptor
ISO
RGD
PMID:14722613
RGD:1302525
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Familial partial lipodystrophy 2
ClinVar RGD
PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12702809 PMID:12784312 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14607793 PMID:14615128 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15298354 PMID:15475483 PMID:15531479 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16809772 PMID:17250669 PMID:17250699 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18182166 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19859838 PMID:19875404 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20625965 PMID:20848652 PMID:21346069 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21883346 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25025039 PMID:25163546 PMID:25214167 PMID:25351510 PMID:25367549 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26165385 PMID:26183555 PMID:26220970 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27884249 PMID:27896052 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30847666 PMID:30871747 PMID:30954027 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32455078 PMID:32475984 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32818388 PMID:32880476 PMID:33258288 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33916827 PMID:33963534 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37679847 PMID:12196663 More...
RGD:1580516
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
susceptibility
ISO
RGD
PMID:11967537
RGD:1598785
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CGL2, OMIM:269700, DNA:frameshift:exon ClinVar Annotator: match by term: Lipodystrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:18057387 PMID:25462787 PMID:25741868 PMID:11479539
RGD:1600601
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:16697654
RGD:1581157
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ebf1
EBF transcription factor 1
ISS
OMIM:608709
MouseDO
NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
RGD
PMID:24011075
RGD:10401088
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Insr
insulin receptor
ISO
RGD
PMID:14722613
RGD:1302525
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Lmna
lamin A/C
ISO
DNA:missense mutation:cds:p.R482Q, p.R482W (human) ClinVar Annotator: match by term: Lipodystrophy
ClinVar RGD
PMID:12920062 PMID:15060110 PMID:19095983 PMID:19169477 PMID:19589617 PMID:22700598 PMID:22918509 PMID:23183350 PMID:23666920 PMID:24033266 PMID:25327215 PMID:25741868 PMID:26332594 PMID:27498076 PMID:27529282 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29047356 PMID:29253866 PMID:29557732 PMID:29791652 PMID:30123186 PMID:30420677 PMID:30696354 PMID:30847666 PMID:31383942 PMID:31857427 PMID:32041611 PMID:32548202 PMID:32616434 PMID:32685188 PMID:32954377 PMID:33713793 PMID:33803191 PMID:35449878 PMID:12524233 More...
RGD:2306123
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Lpin1
lipin 1
ISS
OMIM:608709
MouseDO
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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Parp2
poly (ADP-ribose) polymerase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21417348
NCBI chr15:24,034,069...24,044,340
Ensembl chr15:24,034,106...24,044,338
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770608
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
FPLD3,OMIM:604367;DNA:point mutation:exon:P467L ClinVar Annotator: match by term: Lipodystrophy
ClinVar RGD
PMID:10622252 PMID:12663460 PMID:15254591 PMID:17003330 PMID:22461176 PMID:22539598 PMID:25157153 PMID:25741868 PMID:28492532 PMID:10622252 More...
RGD:1601445
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12913070 PMID:21828285
RGD:10043099
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11502818
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Star
steroidogenic acute regulatory protein
ISO
ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11502818 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21846663 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 More...
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Ecm1
extracellular matrix protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lipid proteinosis
CTD ClinVar OMIM RGD
PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 PMID:17063986 PMID:17199583 PMID:17927570 PMID:24413997 PMID:24708644 PMID:25529926 PMID:25741868 PMID:26803878 PMID:28492532 PMID:28720532 PMID:11929856 More...
RGD:734912
NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
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Cel
carboxyl ester lipase
ISO
associated with Prediabetic State; DNA:deletion:exon
RGD
PMID:17259390
RGD:2313965
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11748304
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Acadl
acyl-CoA dehydrogenase, long chain
ISO
ClinVar Annotator: match by term: Long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:25741868
NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
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Aldob
aldolase, fructose-bisphosphate B
ISO
ClinVar Annotator: match by term: LCHAD Deficiency
ClinVar
PMID:25741868
NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
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Garem2
GRB2 associated regulator of MAPK1 subtype 2
ISO
ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar
PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:8865274 PMID:9003853 PMID:9266371 PMID:9536098 PMID:10234607 PMID:10352164 PMID:10518281 PMID:11773547 PMID:11855930 PMID:12237653 PMID:12442268 PMID:12971428 PMID:14630990 PMID:15902556 PMID:16199547 PMID:17143551 PMID:17576681 PMID:18408953 PMID:19852779 PMID:20583174 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22030098 PMID:22459206 PMID:23430857 PMID:23868323 PMID:24033266 PMID:24305961 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27014569 PMID:27117294 PMID:27491397 PMID:28492532 PMID:28559085 PMID:29124685 PMID:29519241 PMID:30626930 PMID:30934865 PMID:31589614 PMID:31980526 PMID:32778825 PMID:32827528 PMID:33638202 PMID:34878152 PMID:35433174 More...
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2019931 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:8865274 PMID:9003853 PMID:9266371 PMID:9536098 PMID:9739053 PMID:10234607 PMID:10352164 PMID:10518281 PMID:11243734 PMID:11773547 PMID:11855930 PMID:12237653 PMID:12442268 PMID:12809642 PMID:12971428 PMID:14630990 PMID:14694500 PMID:15902556 PMID:16040264 PMID:16199547 PMID:17143551 PMID:17576681 PMID:18408953 PMID:19433283 PMID:19852779 PMID:20583174 PMID:20659813 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22030098 PMID:22065858 PMID:22459206 PMID:23430857 PMID:23798014 PMID:23868323 PMID:24033266 PMID:24305961 PMID:25087612 PMID:25525159 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27014569 PMID:27117294 PMID:27491397 PMID:28492532 PMID:28515471 PMID:28559085 PMID:29095929 PMID:29124685 PMID:29268767 PMID:29519241 PMID:30626930 PMID:30682426 PMID:30934865 PMID:31589614 PMID:31980526 PMID:32778825 PMID:32827528 PMID:33638202 PMID:34878152 PMID:35281663 PMID:35433174 More...
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
G
Hmgcl
3-hydroxy-3-methylglutaryl-CoA lyase
ISO
ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar
PMID:8798725 PMID:9439591 PMID:9463337 PMID:9784232 PMID:9817922 PMID:10916782 PMID:14518825 PMID:15122894 PMID:15308132 PMID:16199547 PMID:16330550 PMID:17173698 PMID:17692550 PMID:19036343 PMID:19177531 PMID:19932602 PMID:23465862 PMID:25741868 PMID:25872961 PMID:28488182 PMID:28492532 PMID:28583327 PMID:28747690 More...
NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
G
Lipa
lipase A, lysosomal acid type
ISO ISS
ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency OMIM:278000
ClinVar MouseDO
PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8864960 PMID:8894696 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16199547 PMID:16255772 PMID:17576681 PMID:18775687 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24033266 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25525159 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28179030 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30270055 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:32041611 PMID:32382506 More...
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
G
Pold1
DNA polymerase delta 1, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
CTD OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25583476 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29056344 PMID:30093976 PMID:31780696 PMID:32792570 PMID:32885271 PMID:35264596 More...
NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
G
Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical DNA:missense mutation:cds:p.R527H (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11897440 PMID:12075506 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12768443 PMID:12784312 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15286156 PMID:15298354 PMID:15475483 PMID:15531479 PMID:15770669 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16772334 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17334235 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17848409 PMID:17893350 PMID:17935239 PMID:17987279 PMID:18035086 PMID:18182166 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19859838 PMID:19875404 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22918509 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24861648 PMID:25025039 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25982065 PMID:26027246 PMID:26084686 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27100822 PMID:27153395 PMID:27199538 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29253866 PMID:29255176 PMID:29438482 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30528549 PMID:30564623 PMID:30847666 PMID:30871747 PMID:30901896 PMID:30954027 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32455078 PMID:32456328 PMID:32475984 PMID:32616434 PMID:32685188 PMID:32727917 PMID:32746448 PMID:32818388 PMID:32880476 PMID:33258288 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33916827 PMID:33963534 PMID:34135346 PMID:34340952 PMID:34495297 PMID:34680903 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34865644 PMID:34935411 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35535697 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37679847 PMID:16046620 More...
RGD:12791023
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18554282
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy
OMIM CTD ClinVar
PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 PMID:15843403 PMID:15937076 PMID:16297189 PMID:17152860 PMID:17576681 PMID:18414213 PMID:18435794 PMID:19020898 PMID:19139791 PMID:19383993 PMID:19504603 PMID:19645629 PMID:19680556 PMID:20034068 PMID:20635340 PMID:20814950 PMID:21108632 PMID:21121943 PMID:21831885 PMID:22495976 PMID:22718200 PMID:24169522 PMID:25629449 PMID:25741868 PMID:28492532 More...
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
G
Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:627879 PMID:948948 PMID:2005308 PMID:2254511 PMID:3212331 PMID:3495735 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11139245 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24039054 PMID:24161884 PMID:24199744 PMID:24613577 PMID:24665001 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25525159 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27087445 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30513137 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31605817 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32431097 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33100332 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34818515 PMID:36973604 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Acadm
acyl-CoA dehydrogenase medium chain
ISO ISS
ClinVar Annotator: match by term: Medium chain acyl-CoA dehydrogenase deficiency | ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency OMIM:201450 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1356169 PMID:1361190 PMID:1447668 PMID:1570195 PMID:1594327 PMID:1601002 PMID:1671131 PMID:1678810 PMID:1679031 PMID:1684086 PMID:1729890 PMID:1756601 PMID:1902818 PMID:1972503 PMID:2046713 PMID:2251268 PMID:2393404 PMID:2394825 PMID:3786030 PMID:6434827 PMID:7603790 PMID:7633427 PMID:7720752 PMID:7730333 PMID:7904584 PMID:7929823 PMID:8102510 PMID:8104486 PMID:8198141 PMID:8215568 PMID:8535441 PMID:8682492 PMID:9158144 PMID:9536098 PMID:9797589 PMID:9882619 PMID:10767181 PMID:11263545 PMID:11346377 PMID:11349232 PMID:11409868 PMID:11486912 PMID:11673361 PMID:15171998 PMID:15171999 PMID:15479234 PMID:15832312 PMID:15915086 PMID:16121256 PMID:16199547 PMID:16291504 PMID:16617240 PMID:16737882 PMID:16763904 PMID:16972171 PMID:17273963 PMID:17576681 PMID:18075239 PMID:18188679 PMID:18241067 PMID:18450854 PMID:18478588 PMID:18767270 PMID:18836889 PMID:19064330 PMID:19156839 PMID:19224950 PMID:19649258 PMID:19699128 PMID:19780764 PMID:20036593 PMID:20301597 PMID:20434380 PMID:20437613 PMID:20567907 PMID:20580581 PMID:21083904 PMID:21228398 PMID:21239873 PMID:21483992 PMID:21704015 PMID:21929648 PMID:22166308 PMID:22542437 PMID:22630369 PMID:22683754 PMID:22796001 PMID:22848008 PMID:22975760 PMID:23028790 PMID:23095120 PMID:23151387 PMID:23430840 PMID:23509891 PMID:23546811 PMID:23574375 PMID:23700290 PMID:23757202 PMID:23798014 PMID:23810226 PMID:23829193 PMID:23842438 PMID:24033266 PMID:24294134 PMID:24623196 PMID:24718418 PMID:24966162 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25503862 PMID:25525159 PMID:25640679 PMID:25689098 PMID:25741868 PMID:25940036 PMID:26223887 PMID:26467025 PMID:26798524 PMID:26947917 PMID:26990548 PMID:27308838 PMID:27477829 PMID:27751224 PMID:27843123 PMID:27856190 PMID:27943070 PMID:27976856 PMID:28492532 PMID:28581210 PMID:29247206 PMID:29285339 PMID:29350094 PMID:29519241 PMID:30626930 PMID:30675864 PMID:30838026 PMID:31012112 PMID:31033143 PMID:31620161 PMID:31737040 PMID:31836396 PMID:32304307 PMID:32778825 PMID:32793418 PMID:32901917 PMID:33072938 PMID:33123633 PMID:33514801 PMID:33580884 PMID:33841490 PMID:34539730 PMID:34578803 PMID:34923709 PMID:35281663 PMID:35629059 PMID:36068006 PMID:36096209 PMID:36246604 More...
NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
G
Asb17
ankyrin repeat and SOCS box-containing 17
ISO
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr 2:242,775,887...242,786,950
Ensembl chr 2:242,775,994...242,786,903
G
Msh4
mutS homolog 4
ISO
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr 2:242,785,392...242,844,609
Ensembl chr 2:242,792,661...242,843,487
G
Rabggtb
Rab geranylgeranyltransferase subunit beta
ISO
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr 2:242,844,758...242,850,951
Ensembl chr 2:242,844,762...242,851,050
G
Slc44a5
solute carrier family 44, member 5
ISO
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr 2:242,911,050...243,208,018
Ensembl chr 2:242,911,325...243,206,404
G
Snord45a
small nucleolar RNA, C/D box 45A
ISO
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr 2:242,849,608...242,849,688
Ensembl chr 2:242,849,608...242,849,688
G
Snord45c
small nucleolar RNA, C/D box 45C
ISO
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr 2:242,850,124...242,850,203
Ensembl chr 2:242,850,124...242,850,203
G
Snord45l1
small nucleolar RNA, C/D box 45 like 1
ISO
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr 6:89,414,682...89,414,752
Ensembl chr 6:89,414,682...89,414,752
G
St6galnac3
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
ISO
ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr 2:242,129,755...242,645,120
Ensembl chr 2:242,129,763...242,645,133
G
Ebp
EBP, cholestenol delta-isomerase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MEND syndrome
OMIM CTD ClinVar
PMID:11038443 PMID:12503101 PMID:12966533 PMID:18414213 PMID:20949533 PMID:23307567 PMID:24459067 PMID:24700572 PMID:25741868 PMID:28492532 More...
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
G
Pgap1
post-GPI attachment to proteins inositol deacylase 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17711852 PMID:24482476 PMID:25741868 PMID:25804403 PMID:25823418 PMID:26050939 PMID:26350515 PMID:27457812 PMID:27848944 PMID:28492532 PMID:34906502 More...
NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
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Atp5me
ATP synthase membrane subunit e
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
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Cplx1
complexin 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,184,677...1,216,392
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Dgkq
diacylglycerol kinase, theta
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
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Fgfrl1
fibroblast growth factor receptor-like 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:28492532 PMID:34113002
NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
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Gak
cyclin G associated kinase
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
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Gtpbp3
GTP binding protein 3
ISO
ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
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Idua
alpha-L-iduronidase
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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Pcgf3
polycomb group ring finger 3
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
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Pde6b
phosphodiesterase 6B
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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Pigg
phosphatidylinositol glycan anchor biosynthesis, class G
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Emm-null phenotype | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
OMIM CTD ClinVar
PMID:3603660 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:31980526 PMID:33763700 PMID:33921431 PMID:34113002 PMID:34535746 PMID:34908758 More...
NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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Slc26a1
solute carrier family 26 member 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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Slc49a3
solute carrier family 49 member 3
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
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Sptbn1
spectrin, beta, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:25741868
NCBI chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507
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Tmem175
transmembrane protein 175
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
ClinVar
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002
NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
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Abca1
ATP binding cassette subfamily A member 1
treatment
ISO
RGD
PMID:29505790
RGD:19165131
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Acaca
acetyl-CoA carboxylase alpha
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Acer3
alkaline ceramidase 3
treatment disease_progression
ISO
mRNA:increased expression:liver
RGD
PMID:31949129 PMID:31949129 PMID:31949129
RGD:35673324 , RGD:35673324 , RGD:35673324
NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591
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Acta2
actin alpha 2, smooth muscle
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:28100771
RGD:127285675
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Adipor2
adiponectin receptor 2
susceptibility treatment
IEP ISO
mRNA:decreased expression:liver (rat) associated with obesity associated with obesity;protein:decreased expression:liver (mouse)
RGD
PMID:20606728 PMID:30131158 PMID:20965162 PMID:18666257 PMID:19763702
RGD:21076282 , RGD:25824942 , RGD:25440494 , RGD:25330095 , RGD:25330094
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adra2a
adrenoceptor alpha 2A
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Apoa1
apolipoprotein A1
treatment
ISO IEP
human gene in mouse model mRNA, protein: increased expression:liver, serum (rat)
RGD
PMID:24793484 PMID:30187493
RGD:21408551 , RGD:25671434
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
treatment
IEP
associated with type 2 diabetes mellitus;
RGD
PMID:29608898
RGD:153352320
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Birc3
baculoviral IAP repeat-containing 3
ISO
protein:increased expression:liver (human)
RGD
PMID:29307797
RGD:153297819
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO IEP
RNA:increased expression:liver: mRNA:increased expression:liver (rat)
RGD
PMID:24429361 PMID:20606728 PMID:30369082
RGD:14975280 , RGD:21076282 , RGD:14995462
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:serum:
RGD
PMID:27639593
RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cldn1
claudin 1
IEP
mRNA:increased expression:distal colon (rat)
RGD
PMID:31189495
RGD:26884351
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Col1a1
collagen type I alpha 1 chain
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cpt1a
carnitine palmitoyltransferase 1A
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Cxcl10
C-X-C motif chemokine ligand 10
severity
ISO
mRNA,protein:increased expression:liver,serum
RGD
PMID:25048951 PMID:25048951
RGD:27095890 , RGD:27095890
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:28774887
RGD:15045601
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
treatment
ISO IEP
mRNA:increased expression:liver (human) mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:28774887 PMID:30038487
RGD:15045601 , RGD:15092090
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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Gpbar1
G protein-coupled bile acid receptor 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Htr2b
5-hydroxytryptamine receptor 2B
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ameliorates
ISO
RGD
PMID:28415887
RGD:14985253
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifng
interferon gamma
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082A>G (rs1800896) (human)
RGD
PMID:28852433
RGD:14975143
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1b
interleukin 1 beta
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ameliorates
ISO
DNA:SNP:promoter:-174���G/C (human)
RGD
PMID:28852433 PMID:28100771
RGD:14975143 , RGD:127285675
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
ISO
mRNA:increased expression:liver
RGD
PMID:27942586
RGD:40924562
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Jak2
Janus kinase 2
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Krt18
keratin 18
severity
ISO ISS IEP
protein:increased degradation:plasma (human) protein:altered degradation:liver, serum (rat) protein:increased expression:serum (human) associated with morbid obesity;protein:increased degradation: plasma(human) protein:increased degradation:serum (human)
MouseDO RGD
PMID:19585618 PMID:24071521 PMID:21993925 PMID:18995215 PMID:19333204 PMID:24630506 More...
RGD:18337489 , RGD:27226810 , RGD:18337499 , RGD:18337495 , RGD:18337493 , RGD:18337490
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Lepr
leptin receptor
susceptibility
ISO
DNA:SNPs: :rs1137100,rs1137101(human)
RGD
PMID:23278404
RGD:14696696
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Mc4r
melanocortin 4 receptor
ISS
MouseDO
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
RGD
PMID:32015322
RGD:151356909
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mir21
microRNA 21
ameliorates
ISO
RNA:increased expression:liver
RGD
PMID:26338827 PMID:26338827
RGD:41404659 , RGD:41404659
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir221
microRNA 221
treatment disease_progression
ISO
RGD
PMID:30316865 PMID:22267590
RGD:18337274 , RGD:151709001
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Mir222
microRNA 222
disease_progression
ISO
RGD
PMID:22267590
RGD:151709001
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mir223
microRNA 223
treatment
ISO
RNA:increased expression:liver:
RGD
PMID:31585800 PMID:30964207 PMID:30964207
RGD:21408547 , RGD:21408549 , RGD:21408549
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mlxipl
MLX interacting protein-like
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Myd88
MYD88, innate immune signal transduction adaptor
treatment
ISO
RGD
PMID:25790822
RGD:150519907
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP
RGD
PMID:25385666
RGD:21201312
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfkb1
nuclear factor kappa B subunit 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nox4
NADPH oxidase 4
susceptibility
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:20606728
RGD:21076282
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment
ISO IEP
mRNA:increased expression:liver (human) mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:28774887 PMID:30038487
RGD:15045601 , RGD:15092090
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Pck1
phosphoenolpyruvate carboxykinase 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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Ripk3
receptor-interacting serine-threonine kinase 3
ISO
mRNA:increased expression:liver (human)
RGD
PMID:21425308
RGD:127229938
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Scd
stearoyl-CoA desaturase
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpinf1
serpin family F member 1
treatment
ISO
human gene in a mouse model protein:increased expression:serum (human)
RGD
PMID:28365916 PMID:26121037
RGD:27226700 , RGD:27226705
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Smad4
SMAD family member 4
ISO
protein:increased expression:liver:
RGD
PMID:29696816 PMID:29696816
RGD:18937002 , RGD:18937002
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Sod1
superoxide dismutase 1
susceptibility
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:20606728
RGD:21076282
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
susceptibility
IEP ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:20606728 PMID:24649902
RGD:21076282 , RGD:26923960
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487 PMID:28458350
RGD:15092090 , RGD:401799674
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:29482933
RGD:15090806
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr9
toll-like receptor 9
disease_progression
ISO
mRNA, protein:increased expression:serum, liver (mouse)
RGD
PMID:24650018
RGD:18337469
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
susceptibility
IEP ISO
mRNA:increased expression:liver (rat) mRNA:increased expression:liver (mouse)
RGD
PMID:20606728 PMID:28100771
RGD:21076282 , RGD:127285675
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Txnip
thioredoxin interacting protein
ISO
RGD
PMID:29482933
RGD:15090806
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Ubd
ubiquitin D
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Abcb1a
ATP binding cassette subfamily B member 1A
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:22112382
RGD:11040992
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcb1b
ATP-binding cassette, sub-family B member 1B
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:22112382
RGD:11040992
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20040336
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcc2
ATP binding cassette subfamily C member 2
severity
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human)
CTD RGD
PMID:29341352 PMID:18926681
RGD:14700775
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc3
ATP binding cassette subfamily C member 3
IEP
protein:increased expression:liver
RGD
PMID:22112382
RGD:11040992
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Abcg5
ATP binding cassette subfamily G member 5
disease_progression
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:23117815 PMID:25263431
RGD:15045604 , RGD:15045610
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
G
Abcg8
ATP binding cassette subfamily G member 8
disease_progression
IEP
mRNA:decreased expression:liver (rat) mRNA:increased expression:liver (rat)
RGD
PMID:23117815 PMID:25263431
RGD:15045604 , RGD:15045610
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
G
Acaca
acetyl-CoA carboxylase alpha
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
G
Acacb
acetyl-CoA carboxylase beta
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
G
Acadm
acyl-CoA dehydrogenase medium chain
treatment
IEP
RGD
PMID:23076603
RGD:10047124
NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
G
Acadvl
acyl-CoA dehydrogenase, very long chain
treatment
IEP
RGD
PMID:22569299 PMID:23076603
RGD:10047121 , RGD:10047124
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Aco1
aconitase 1
IDA
protein:increased activity:liver
RGD
PMID:23805238
RGD:11541090
NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
G
Actb
actin, beta
IDA
protein:increased carbonylation:liver
RGD
PMID:25282656
RGD:11541097
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
IEP
mRNA, protein:increased expression, increased activity:liver, plasma (rat)
RGD
PMID:19652891
RGD:2315953
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
G
Adh4
alcohol dehydrogenase 4 (class II), pi polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 2:226,948,717...226,966,747
Ensembl chr 2:226,947,466...226,987,591
G
Adipoq
adiponectin, C1Q and collagen domain containing
susceptibility treatment disease_progression
IEP ISO
protein:decreased expression:serum DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human) associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human) DNA:hypermethylation CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:liver associated with Obesity, Morbid; associated with obesity;protein:decreased expression:serum:
CTD RGD
PMID:20415685 PMID:22152320 PMID:22269154 PMID:26042596 PMID:27860427 PMID:19606393 PMID:18713296 PMID:15239085 PMID:21255792 More...
RGD:5685373 , RGD:14401719 , RGD:11076260 , RGD:14401717 , RGD:5686841 , RGD:5686810 , RGD:5686660 , RGD:5686355
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adipor2
adiponectin receptor 2
susceptibility treatment severity
ISO IEP
DNA:missense mutation:cds: (human) mRNA:increased expression:liver (human) mRNA:increased expression:liver (rat) mRNA, protein:decreased expression:serum, liver (mouse)
RGD
PMID:25345946 PMID:25536648 PMID:19422483 PMID:26770322 PMID:17006986 PMID:29569260 More...
RGD:24922200 , RGD:25824941 , RGD:25440492 , RGD:25330097 , RGD:1599139 , RGD:24922201
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
G
Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R (rs4994) (human)
RGD
PMID:15318095
RGD:5684892
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
G
Ahcy
adenosylhomocysteinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29127188
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
G
Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29416063
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Aldh1a1
aldehyde dehydrogenase 1 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
G
Aldh1b1
aldehyde dehydrogenase 1 family, member B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
G
Aldh1l2
aldehyde dehydrogenase 1 family, member L2
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 7:20,254,246...20,305,793
Ensembl chr 7:20,254,233...20,305,776
G
Aldh2
aldehyde dehydrogenase 2 family member
treatment susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds: (rs671) (human)
CTD RGD
PMID:29718361 PMID:25392542 PMID:27214654 PMID:31026768
RGD:15042863 , RGD:11536476 , RGD:15036808
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
G
Aldh4a1
aldehyde dehydrogenase 4 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
G
Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:20967760
RGD:5509622
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
G
Apoa1
apolipoprotein A1
treatment
ISO
RGD
PMID:26420354
RGD:25671437
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoe
apolipoprotein E
IDA
RGD
PMID:21184788
RGD:6904141
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Apoh
apolipoprotein H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
G
Atg7
autophagy related 7
ISO
ClinVar Annotator: match by term: NAFLD1
ClinVar
PMID:25741868 PMID:35405176
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
G
Atp5f1a
ATP synthase F1 subunit alpha
IDA
RGD
PMID:25222487
RGD:13703054
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
G
Atp5f1b
ATP synthase F1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25666834
NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
G
Azgp1
alpha-2-glycoprotein 1, zinc-binding
treatment
IEP
RGD
PMID:27982256
RGD:153352323
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
G
B3gat1
beta-1,3-glucuronyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
G
C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35789393
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
G
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl2
C-C motif chemokine ligand 2
severity
IEP ISO
protein:increased expression:plasma
RGD
PMID:25813056 PMID:24927058
RGD:14995922 , RGD:14995928
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
disease_progression treatment
IEP IMP
RGD
PMID:27639593 PMID:27639593
RGD:14995335 , RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism: :190A>G(human)
RGD
PMID:26591766
RGD:14995492
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Cd14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20353583
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
G
Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cd36
CD36 molecule
ISO
mRNA:increased expression:liver
RGD
PMID:21216282 PMID:24280415
RGD:6893543 , RGD:11041117
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Cideb
cell death-inducing DFFA-like effector b
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:25263431
RGD:15045610
NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
G
Cobll1
cordon-bleu WH2 repeat protein-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 3:49,753,260...49,915,168
Ensembl chr 3:49,753,262...49,915,194
G
Col1a1
collagen type I alpha 1 chain
treatment
ISO IDA
RGD
PMID:23703580 PMID:17241878
RGD:8552713 , RGD:2308807
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Cpt1a
carnitine palmitoyltransferase 1A
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29289645 PMID:31211621
RGD:14747028
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:28824718
RGD:27095887
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15706422
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27565560
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
protein:decreased expression:liver (mouse)
RGD
PMID:29710028
RGD:25671411
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26428356 PMID:26703967 PMID:28458161 PMID:25317811
RGD:11573192 , RGD:14700881 , RGD:14700871
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
G
Cyp8b1
cytochrome P450 family 8 subfamily B member 1
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:25263431
RGD:15045610
NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
G
Dgat2
diacylglycerol O-acyltransferase 2
treatment
IEP ISO
RGD
PMID:24166662 PMID:26394137 PMID:17618857
RGD:10400900 , RGD:329955565 , RGD:10401056
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
G
Ech1
enoyl-CoA hydratase 1
treatment
ISO
RGD
PMID:31961704
RGD:21408561
NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
G
Eif2ak1
eukaryotic translation initiation factor 2 alpha kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IEP
RGD
PMID:24351808
RGD:9588320
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
G
F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22841818
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23127599
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Fasn
fatty acid synthase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
G
Fgf21
fibroblast growth factor 21
severity
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:26797127 PMID:29289645 PMID:32195457
RGD:25330354
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
G
Fgfr1
Fibroblast growth factor receptor 1
severity
ISO
RGD
PMID:32195457
RGD:25330354
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
G
Folr2
folate receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30794826
NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
G
Foxo1
forkhead box O1
treatment
IMP
associated with Diabetes Mellitus, Experimental
RGD
PMID:30186875
RGD:14401598
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver
CTD RGD
PMID:35654975 PMID:23329013
RGD:329951008
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
G
G6pc1
glucose-6-phosphatase catalytic subunit 1
treatment
ISO
associated with type 2 diabetes mellitus
RGD
PMID:30100243 PMID:27840945
RGD:14695535 , RGD:14695545
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
G
G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:20211032
RGD:10449177
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Gnmt
glycine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31086990
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
G
Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
G
Gpt
glutamic--pyruvic transaminase
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:plasma
CTD RGD
PMID:35654975 PMID:24768200 PMID:22922605
RGD:14975160 , RGD:14975251
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
G
Gpt2
glutamic--pyruvic transaminase 2
ISO
protein:increased activity:plasma
RGD
PMID:22922605
RGD:14975251
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
G
Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:24597775
RGD:11352823
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:24622831
RGD:10401873
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Gsta1
glutathione S-transferase alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
G
Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
IEP
protein:decreased expression:liver
RGD
PMID:24782632
RGD:14694831
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hamp
hepcidin antimicrobial peptide
IEP
associated with iron overload;protein:increased expression:serum (human) mRNA:increased expression:liver (human)
RGD
PMID:29871592 PMID:28051796
RGD:15042878 , RGD:15042880
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hfe
homeostatic iron regulator
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:9453491
RGD:8694420
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
disease_progression
IEP
mRNA:decreased expression:liver mRNA:altered expression:liver (rat) mRNA:decreased expression:liver (rat)
RGD
PMID:19913842 PMID:25263431 PMID:23117815
RGD:5508690 , RGD:15045610 , RGD:15045604
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Hp
haptoglobin
IEP ISO
protein:increased expression:serum protein:decreased expression:serum
RGD
PMID:21806828 PMID:21806828
RGD:9491781 , RGD:9491781
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Htr2a
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:35732081
RGD:401900606
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Ide
insulin degrading enzyme
IEP
RGD
PMID:26576191
RGD:13792804
NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
G
Ifi30
IFI30, lysosomal thiol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
G
Igf1
insulin-like growth factor 1
susceptibility
IEP
associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)
RGD
PMID:24275070
RGD:12904726
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
susceptibility
IEP
associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)
RGD
PMID:24275070
RGD:12904726
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Igfbp7
insulin-like growth factor binding protein 7
treatment disease_progression
ISO IEP
mRNA:increased expression:liver (human) mRNA:increased expression:liver (rat)
RGD
PMID:31397492 PMID:35312185 PMID:36034446 PMID:31805951
RGD:401960873 , RGD:401960879 , RGD:401960878 , RGD:401960876
NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
G
Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21115542
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
G
Il10
interleukin 10
severity
ISO
associated with morbid obesity
RGD
PMID:25894568
RGD:14975151
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:18802068
RGD:4145478
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
treatment severity
IEP ISO
protein:increased expression:plasma
RGD
PMID:24006666 PMID:28660148 PMID:20422882
RGD:8655964 , RGD:14696674 , RGD:14696664
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
no_association
ISO
DNA:SNPs:CDS:rs1143634 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:CDS:rs16944 (human)
CTD RGD
PMID:32613381 PMID:27730688 PMID:27730688
RGD:14975293 , RGD:14975293
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
associated with morbid obesity, protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35654975 PMID:22027586
RGD:14401582
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il3
interleukin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
mRNA,protein:increased expression:liver,plasma DNA:SNPs:promoter:rs10499563, rs1800795 (human)
RGD
PMID:18510618 PMID:27730688
RGD:7829808 , RGD:14975293
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32613381
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Insr
insulin receptor
susceptibility treatment
IMP ISO IEP
DNA:deletion:cds:codon 306 in exon 4 (mouse) DNA:deletion:cds: (codon 306, exon 4) (mouse)
RGD
PMID:28468951 PMID:28468951 PMID:29325294
RGD:14700929 , RGD:14700929 , RGD:14700932
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Irs1
insulin receptor substrate 1
IEP
RGD
PMID:20846698
RGD:6483014
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Irs2
insulin receptor substrate 2
IEP
RGD
PMID:20846698
RGD:6483014
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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Jak2
Janus kinase 2
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28100771 PMID:18782535
RGD:6483030
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Klb
klotho beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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Krt18
keratin 18
disease_progression
ISO IEP
protein:increased expression:serum (human) associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) protein:increased degradation:serum (rat)
RGD
PMID:30839434 PMID:29989845 PMID:30149902 PMID:30089409
RGD:18337481 , RGD:26884460 , RGD:18337497 , RGD:18337482
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Lama1
laminin subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478
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Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20938947 PMID:23127599 PMID:23285030
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lep
leptin
ISO ISS IEP
associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma OMIM:613282 | OMIM:613387 associated with type 2 diabetes mellitus;protein:increased expression:serum (human) associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:24211274 PMID:18713300 PMID:30052309 PMID:20476641
RGD:2311137 , RGD:25330349 , RGD:25330346
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
susceptibility
ISO ISS
DNA:intron:c.2673+1118C>T (rs6700896) (human) DNA:SNP:cds:p.Q223R(human) OMIM:613282 | OMIM:613387
MouseDO RGD
PMID:22215535 PMID:27257426
RGD:14696694 , RGD:21079462
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lif
LIF, interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
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Lpl
lipoprotein lipase
treatment
IDA IEP
RGD
PMID:30214514 PMID:27978932
RGD:13793398 , RGD:13794377
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Mapk8
mitogen-activated protein kinase 8
treatment
IEP
associated with Diabetes Mellitus, Type 2; protein:increased phosphorylation:adipose tissue, liver (rat)
RGD
PMID:24404139 PMID:27909723
RGD:13506784 , RGD:150340686
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Met
MET proto-oncogene, receptor tyrosine kinase
disease_progression
ISO
RGD
PMID:24845607
RGD:14694829
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mfn2
mitofusin 2
treatment
IEP
RGD
PMID:26401075
RGD:13204743
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir155
microRNA 155
ISO
miRNA:decreased expression:blood, liver
RGD
PMID:27856635 PMID:27832630
RGD:21079446 , RGD:25671479
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir200b
microRNA 200b
severity
ISO
induced by nutritional deficiency.
RGD
PMID:22561871 PMID:20548288
RGD:14928332 , RGD:14974031
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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Mir20a
microRNA 20a
IEP
associated with type 2 diabetes mellitus
RGD
PMID:30030064
RGD:25823148
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
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Mir22
microRNA 22
severity treatment
ISO
RGD
PMID:32195457 PMID:32195457
RGD:25330354 , RGD:25330354
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
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Mir34a
microRNA 34a
ISO
miRNA:increased expression:plasma
RGD
PMID:27077736
RGD:11533145
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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Mlxipl
MLX interacting protein-like
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Mlycd
malonyl-CoA decarboxylase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mthfr
methylenetetrahydrofolate reductase
severity susceptibility
ISO
DNA:SNP: :1298A > C (human) DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:24488901 PMID:17563923
RGD:14696706 , RGD:14696748
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Mttp
microsomal triglyceride transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35654975 PMID:15094225
RGD:1581245
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Nampt
nicotinamide phosphoribosyltransferase
treatment
IEP
RGD
PMID:27982256
RGD:153352323
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25294219 PMID:23592516
RGD:10412712
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nlrp3
NLR family, pyrin domain containing 3
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nos2
nitric oxide synthase 2
ISO
mRNA, protein:increased expression:liver (mouse)
RGD
PMID:21948338
RGD:5509578
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29289645 PMID:28932253
RGD:13434914
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
G
Nr1h3
nuclear receptor subfamily 1, group H, member 3
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:25263431
RGD:15045610
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment disease_progression susceptibility
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (rat) mRNA:decreased expression:liver (rat) DNA:deletion:cds:exon 9 (mouse)
CTD RGD
PMID:29142166 PMID:32062620 PMID:29743187 PMID:30257410 PMID:25263431 PMID:23117815 PMID:23700488 More...
RGD:14696797 , RGD:15090799 , RGD:15045610 , RGD:15045604 , RGD:14701033
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Nr5a2
nuclear receptor subfamily 5, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29515023
NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
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Pdk4
pyruvate dehydrogenase kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 4:33,591,796...33,601,798
Ensembl chr 4:33,589,799...33,601,850
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Pemt
phosphatidylethanolamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29416063
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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Pgrmc1
progesterone receptor membrane component 1
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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Phyh
phytanoyl-CoA 2-hydroxylase
treatment
IEP
RGD
PMID:29031784
RGD:13831310
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Pklr
pyruvate kinase L/R
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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Pla2g7
phospholipase A2 group VII
ISO
protein:increased expression:serum
RGD
PMID:22112193
RGD:6482771
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Pnpla3
patatin-like phospholipase domain containing 3
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:613282 | OMIM:613387 ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease DNA:SNPs: :rs738407, rs738409, and rs2896019 (human) associated with obesity;DNA:SNP: :rs738409 (p.I148M) (human)
CTD MouseDO ClinVar RGD
PMID:18820647 PMID:21381068 PMID:24033266 PMID:24531328 PMID:24917523 PMID:25290313 PMID:26200108 PMID:27180240 PMID:27288299 PMID:28073161 PMID:28492532 PMID:29158695 PMID:24831885 PMID:24477042 PMID:26740948 More...
RGD:14981596 , RGD:14981593 , RGD:13463463
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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Pon2
paraoxonase 2
treatment
IEP
RGD
PMID:22536512
RGD:8661257
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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Ppara
peroxisome proliferator activated receptor alpha
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23603006 PMID:31211621
RGD:14747028
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ppard
peroxisome proliferator-activated receptor delta
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16574099 PMID:29289645
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a
PPARG coactivator 1 alpha
treatment susceptibility
IDA IEP ISO
associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human)
RGD
PMID:21373642 PMID:26394137 PMID:23269818
RGD:6484527 , RGD:329955565 , RGD:7241847
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppargc1b
PPARG coactivator 1 beta
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
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Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34678374
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Prf1
perforin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Prkca
protein kinase C, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Prkcd
protein kinase C, delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Prkce
protein kinase C, epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26023714
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
treatment
ISO
RGD
PMID:26723251
RGD:11086779
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rag2
recombination activating 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Rarres2
retinoic acid receptor responder 2
disease_progression
ISO IEP
mRNA:decreased expression:liver mRNA, protein:decreased expression:liver,serum
RGD
PMID:23507574 PMID:23507574 PMID:23507574
RGD:15036822 , RGD:15036822 , RGD:15036822
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
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Rdx
radixin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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Retn
resistin
IEP
protein:increased expression:serum
RGD
PMID:20560816
RGD:7207249
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Samm50
SAMM50 sorting and assembly machinery component
ISO
DNA:SNPs: :
RGD
PMID:26740948
RGD:13463463
NCBI chr 7:115,317,472...115,341,682
Ensembl chr 7:115,317,404...115,341,682
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Scarb1
scavenger receptor class B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23127599
NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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Scd
stearoyl-CoA desaturase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpinb2
serpin family B member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
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Serpine1
serpin family E member 1
ISO
protein:increased expression:blood:
RGD
PMID:25091195
RGD:13208545
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sidt2
SID1 transmembrane family, member 2
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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Sirt1
sirtuin 1
treatment severity
IEP ISO
CTD Direct Evidence: therapeutic associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue protein:decreased expression:liver
CTD RGD
PMID:26026874 PMID:17498258 PMID:20033348 PMID:22902550
RGD:9585663 , RGD:9586021 , RGD:9585746
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt2
sirtuin 2
treatment
IDA
associated with Obesity
RGD
PMID:22327056
RGD:9586049
NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
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Sirt3
sirtuin 3
treatment
IDA
associated with Obesity
RGD
PMID:22327056
RGD:9586049
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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Sirt4
sirtuin 4
IEP
RGD
PMID:20651844
RGD:9586052
NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
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Sirt6
sirtuin 6
treatment
IEP
RGD
PMID:21373642
RGD:6484527
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Sod2
superoxide dismutase 2
treatment
ISO
RGD
PMID:15094225 PMID:24597775
RGD:1581245 , RGD:11352823
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
disease_progression treatment
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (mouse)
CTD RGD
PMID:23603006 PMID:24633463 PMID:29173234 PMID:26394137
RGD:401827867 , RGD:329955565
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Stat3
signal transducer and activator of transcription 3
IDA
RGD
PMID:18782535
RGD:6483030
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stc2
stanniocalcin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097666
NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973
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Tff3
trefoil factor 3
treatment
ISO
mRNA,protein:decreased expression:liver:
RGD
PMID:31211621 PMID:31211621
RGD:14747028 , RGD:14747028
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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Tfrc
transferrin receptor
IEP
protein:increased expression:liver
RGD
PMID:23805238
RGD:11541090
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tg
thyroglobulin
sexual_dimorphism
ISO
RGD
PMID:30016121
RGD:401976499
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615 PMID:32613381
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr4
toll-like receptor 4
treatment severity
IEP ISO
mRNA:increased expression:liver:
RGD
PMID:23301938 PMID:25413054 PMID:22253482
RGD:7777122 , RGD:14700658 , RGD:14700656
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:liver (human, mouse)
RGD
PMID:28687713
RGD:18337289
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tm6sf2
transmembrane 6 superfamily member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531328
NCBI chr16:19,344,218...19,351,431
Ensembl chr16:19,344,222...19,351,431
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Tnf
tumor necrosis factor
treatment severity
IEP ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum, liver (rat) associated with morbid obesity
CTD RGD
PMID:32613381 PMID:25219124 PMID:19034968 PMID:25894568
RGD:10450574 , RGD:14995482 , RGD:14975151
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip3
TNF alpha induced protein 3
severity
ISO
RGD
PMID:27253414
RGD:151347600
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20353583
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Trib1
tribbles pseudokinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
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Ucp2
uncoupling protein 2
treatment
IDA ISO IEP
mRNA:increased expression:liver mRNA, protein:increased expression:liver
RGD
PMID:21359922 PMID:18308829 PMID:18543254
RGD:7175312 , RGD:7204435 , RGD:7204434
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Vdr
vitamin D receptor
treatment
ISO
mRNA,protein:increased expression:hepatocyte:
RGD
PMID:27245430 PMID:27245430 PMID:27245430
RGD:14401753 , RGD:14401753 , RGD:14401753
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vldlr
very low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Xbp1
X-box binding protein 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24097666 PMID:26394137
RGD:329955565
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Adm2
adrenomedullin 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:28842795
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Alg12
ALG12, alpha-1,6-mannosyltransferase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
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Alms1
ALMS1, centrosome and basal body associated protein
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:32581362 More...
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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Arsa
arylsulfatase A
ISO ISS
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe OMIM:249900 | OMIM:250100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID:2299327 PMID:2574462 PMID:6122378 PMID:7581401 PMID:7649558 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9272717 PMID:9402957 PMID:9452102 PMID:9490297 PMID:9536098 PMID:9600244 PMID:9668161 PMID:9744473 PMID:9819708 PMID:9888390 PMID:10220151 PMID:10381328 PMID:10459747 PMID:10477432 PMID:10533072 PMID:10751093 PMID:11013459 PMID:11020646 PMID:11061266 PMID:11456299 PMID:11777924 PMID:11941485 PMID:12035837 PMID:12081727 PMID:12086582 PMID:12116203 PMID:12445909 PMID:12503099 PMID:12788103 PMID:12809637 PMID:12809638 PMID:14517960 PMID:14571263 PMID:14680985 PMID:15026521 PMID:15139291 PMID:15211666 PMID:15326627 PMID:15375602 PMID:15710861 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16199547 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17413447 PMID:17438611 PMID:17560502 PMID:17576681 PMID:18693274 PMID:18768108 PMID:18786133 PMID:18832844 PMID:19021637 PMID:19154224 PMID:19565006 PMID:19606494 PMID:19815439 PMID:20141713 PMID:20301309 PMID:20339381 PMID:20646068 PMID:20890085 PMID:21080229 PMID:21167507 PMID:21265945 PMID:22216298 PMID:22798296 PMID:22854541 PMID:22993277 PMID:23208745 PMID:23559313 PMID:23581857 PMID:23701968 PMID:23845948 PMID:24001781 PMID:24033266 PMID:25297594 PMID:25344692 PMID:25482214 PMID:25525159 PMID:25741868 PMID:25965562 PMID:25987178 PMID:26000324 PMID:26131420 PMID:26462614 PMID:26467025 PMID:26553228 PMID:26890752 PMID:26915897 PMID:27261095 PMID:27289174 PMID:27374302 PMID:27779215 PMID:27904824 PMID:28296894 PMID:28492532 PMID:28667691 PMID:28670130 PMID:28749476 PMID:28762252 PMID:28799099 PMID:28923328 PMID:29379168 PMID:29457794 PMID:29544907 PMID:29915382 PMID:29961769 PMID:29966168 PMID:30026549 PMID:30052522 PMID:30057904 PMID:30293248 PMID:30674982 PMID:30828547 PMID:31069529 PMID:31130284 PMID:31186049 PMID:31312839 PMID:31664448 PMID:31694723 PMID:31922587 PMID:31922725 PMID:31967741 PMID:31969187 PMID:31980526 PMID:32113700 PMID:32617873 PMID:32632536 PMID:32860008 PMID:32875726 PMID:33046606 PMID:33138774 PMID:33185815 PMID:33335837 PMID:33385934 PMID:33855715 PMID:34276053 PMID:34490615 PMID:34554397 PMID:36240581 PMID:15375602 PMID:15026521 More...
RGD:1358435 , RGD:1358434
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Arsb
arylsulfatase B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 PMID:14974081 PMID:16435196 PMID:17458871 PMID:17643332 PMID:18406185 PMID:21514195 PMID:21791832 PMID:21917494 PMID:22133300 PMID:22441840 PMID:23557332 PMID:23657977 PMID:24221504 PMID:24373060 PMID:24767253 PMID:25741868 PMID:28492532 PMID:30118150 More...
NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
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Brd1
bromodomain containing 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Chkb
choline kinase beta
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
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Cimap1b
ciliary microtubule associated protein 1B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749
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Cpt1b
carnitine palmitoyltransferase 1B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
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Creld2
cysteine-rich with EGF-like domains 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543
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Dennd6b
DENN domain containing 6B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494
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Eif2b5
eukaryotic translation initiation factor 2B subunit epsilon
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 PMID:25741868 PMID:25761052 PMID:28492532 PMID:30755392 PMID:33432707 More...
NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 PMID:28492532 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar
PMID:25741868
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Hdac10
histone deacetylase 10
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
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Kars1
lysyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:33260297
NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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Klhdc7b
kelch domain containing 7B
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,452,081...120,455,737
Ensembl chr 7:120,453,932...120,455,737
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Lmf2
lipase maturation factor 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
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Mal
mal, T-cell differentiation protein
ISO
RGD
PMID:15193296
RGD:1358761
NCBI chr 3:114,864,378...114,888,136
Ensembl chr 3:114,864,378...114,888,136
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Mapk11
mitogen-activated protein kinase 11
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
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Mapk12
mitogen-activated protein kinase 12
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664
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Mapk8ip2
mitogen-activated protein kinase 8 interacting protein 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
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Miox
myo-inositol oxygenase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
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Mlc1
modulator of VRAC current 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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Mov10l1
Mov10 like RNA helicase 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
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Ncaph2
non-SMC condensin II complex, subunit H2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Panx2
pannexin 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
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Pim3
Pim-3 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587
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Plxnb2
plexin B2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30450527 More...
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Ppp6r2
protein phosphatase 6, regulatory subunit 2
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
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Psap
prosaposin
ISS ISO
OMIM:249900 | OMIM:250100 ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
MouseDO ClinVar
PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:34649574 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy variant
ClinVar
PMID:25741868 PMID:28842795
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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Sbf1
SET binding factor 1
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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Selenoo
selenoprotein O
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
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Syce3
synaptonemal complex central element protein 3
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
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Trabd
TraB domain containing
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015
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Ttll8
tubulin tyrosine ligase like 8
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075
G
Tubgcp6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
G
Tymp
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
G
Zbed4
zinc finger, BED-type containing 4
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar
PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 More...
NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
G
Psap
prosaposin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency
CTD OMIM ClinVar
PMID:1371116 PMID:2019586 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:25741868 PMID:26462614 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:33219486 More...
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
G
Cdc42
cell division cycle 42
ISS
OMIM:251850
MouseDO
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
G
Myo5b
myosin Vb
ISO ISS
OMIM:251850 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition
OMIM MouseDO CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 PMID:21206382 PMID:21282656 PMID:24014347 PMID:24033266 PMID:25111220 PMID:25741868 PMID:26553929 PMID:27242896 PMID:27532546 PMID:28027573 PMID:28492532 PMID:28899465 PMID:29266534 PMID:32304554 PMID:32888943 PMID:33525641 More...
NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
G
Garem2
GRB2 associated regulator of MAPK1 subtype 2
ISO
ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
ClinVar
PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:8865274 PMID:9003853 PMID:9266371 PMID:9536098 PMID:10234607 PMID:10352164 PMID:10518281 PMID:11773547 PMID:11855930 PMID:12237653 PMID:12442268 PMID:12971428 PMID:14630990 PMID:15902556 PMID:16199547 PMID:17143551 PMID:17576681 PMID:18408953 PMID:19852779 PMID:20583174 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22459206 PMID:23430857 PMID:23868323 PMID:24033266 PMID:24305961 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27014569 PMID:27117294 PMID:27491397 PMID:28492532 PMID:28559085 PMID:29124685 PMID:29519241 PMID:30626930 PMID:31589614 PMID:31980526 PMID:32778825 PMID:32827528 PMID:32860008 PMID:34878152 More...
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
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Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
CTD ClinVar
PMID:2019931 PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:8865274 PMID:9003853 PMID:9266371 PMID:9536098 PMID:9739053 PMID:10234607 PMID:10352164 PMID:10518281 PMID:11243734 PMID:11773547 PMID:11855930 PMID:12237653 PMID:12442268 PMID:12809642 PMID:12971428 PMID:14630990 PMID:14694500 PMID:15902556 PMID:16040264 PMID:16199547 PMID:17143551 PMID:17576681 PMID:18408953 PMID:19433283 PMID:19852779 PMID:20583174 PMID:20659813 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22065858 PMID:22459206 PMID:23430857 PMID:23798014 PMID:23868323 PMID:24033266 PMID:24305961 PMID:25087612 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27014569 PMID:27117294 PMID:27491397 PMID:28492532 PMID:28515471 PMID:28559085 PMID:29095929 PMID:29124685 PMID:29268767 PMID:29519241 PMID:30626930 PMID:30682426 PMID:31589614 PMID:31980526 PMID:32778825 PMID:32827528 PMID:32860008 PMID:34878152 PMID:35281663 More...
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
ClinVar
PMID:8651282 PMID:9259266 PMID:9536098 PMID:12754706 PMID:14630990 PMID:14694500 PMID:15902556 PMID:16199547 PMID:16423905 PMID:16523289 PMID:17143551 PMID:17576681 PMID:19699128 PMID:19880769 PMID:21549624 PMID:22000755 PMID:22494545 PMID:23757202 PMID:24033266 PMID:24314034 PMID:24379101 PMID:24664533 PMID:25741868 PMID:26109258 PMID:27014569 PMID:27491397 PMID:28492532 PMID:28515471 PMID:28871440 PMID:29956646 PMID:30682426 PMID:31130284 PMID:34543737 PMID:34578803 PMID:35383965 PMID:35403730 PMID:35433169 More...
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
G
Garem2
GRB2 associated regulator of MAPK1 subtype 2
ISO
ClinVar Annotator: match by term: Trifunctional protein deficiency type 1
ClinVar
PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:9003853 PMID:9266371 PMID:10352164 PMID:10518281 PMID:11773547 PMID:14630990 PMID:15902556 PMID:18408953 PMID:19852779 PMID:20583174 PMID:20814823 PMID:21103935 PMID:21549624 PMID:23430857 PMID:23868323 PMID:24033266 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27117294 PMID:27491397 PMID:28492532 More...
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
ClinVar Annotator: match by term: Trifunctional protein deficiency type 1
OMIM ClinVar
PMID:7738175 PMID:7811722 PMID:7846063 PMID:8739956 PMID:8770876 PMID:9003853 PMID:9266371 PMID:10352164 PMID:10518281 PMID:11773547 PMID:12237653 PMID:12809642 PMID:14630990 PMID:15902556 PMID:16040264 PMID:18408953 PMID:19852779 PMID:20583174 PMID:20814823 PMID:21103935 PMID:21549624 PMID:22459206 PMID:23430857 PMID:23868323 PMID:24033266 PMID:25741868 PMID:25888220 PMID:26024122 PMID:26109258 PMID:26653362 PMID:27117294 PMID:27491397 PMID:28492532 More...
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy
OMIM ClinVar
PMID:8163672 PMID:8651282 PMID:9259266 PMID:12754706 PMID:15902556 PMID:16423905 PMID:19699128 PMID:19880769 PMID:22382802 PMID:22494545 PMID:24664533 PMID:25741868 PMID:28492532 PMID:28515471 PMID:29956646 More...
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: Mucolipidosis
ClinVar
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 PMID:19197337 PMID:19617216 PMID:19634183 PMID:20301728 PMID:21416587 PMID:21549105 PMID:22495880 PMID:22570975 PMID:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24033266 PMID:24045841 PMID:24375680 PMID:24798265 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26385638 PMID:27662472 PMID:28095893 PMID:28396763 PMID:28492532 PMID:28649523 PMID:29704188 PMID:29872134 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31130284 PMID:31579991 PMID:31934135 PMID:32651481 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
G
Gnptg
N-acetylglucosamine-1-phosphate transferase subunit gamma
ISO
ClinVar Annotator: match by term: Mucolipidosis
ClinVar
PMID:24033266 PMID:25741868
NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
G
Mcoln1
mucolipin TRP cation channel 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mucolipidosis
CTD ClinVar
PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 PMID:11551108 PMID:11845410 PMID:15523648 PMID:16287144 PMID:16645217 PMID:17384215 PMID:19815695 PMID:20864526 PMID:21613607 PMID:23555759 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO ISS
ClinVar Annotator: match by term: Inclusion cell disease | ClinVar Annotator: match by term: Mucolipidosis type II OMIM:252500 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20301730 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:22495880 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24033266 PMID:24045841 PMID:24060719 PMID:24375680 PMID:24550498 PMID:24767253 PMID:24798265 PMID:24807205 PMID:25107912 PMID:25473036 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26274329 PMID:26385638 PMID:26633542 PMID:27180337 PMID:27239697 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28396763 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29140481 PMID:29704188 PMID:29872134 PMID:29966168 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31003007 PMID:31130284 PMID:31319225 PMID:31405983 PMID:31579991 PMID:31589614 PMID:31603145 PMID:31795562 PMID:31934135 PMID:32014045 PMID:32341820 PMID:32651481 PMID:32746448 PMID:32860008 PMID:34008892 PMID:34426522 PMID:34645491 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical
ClinVar
PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
G
Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta | ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26385638 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31589614 PMID:31934135 PMID:34426522 PMID:34645491 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptg
N-acetylglucosamine-1-phosphate transferase subunit gamma
ISO
ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19659762 PMID:20034096 PMID:20147709 PMID:20301784 PMID:20951619 PMID:21792934 PMID:23430803 PMID:24033266 PMID:24123366 PMID:24316125 PMID:24767253 PMID:24807205 PMID:25182519 PMID:25741868 PMID:26130485 PMID:26935170 PMID:27038293 PMID:27243974 PMID:27896079 PMID:28492532 PMID:28950892 PMID:29170090 PMID:29704188 PMID:29872134 PMID:30235039 PMID:30507725 PMID:30882951 PMID:32651481 More...
NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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Unkl
unk like zinc finger
ISO
ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM
ClinVar
NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
G
Adamts10
ADAM metallopeptidase with thrombospondin type 1 motif, 10
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620
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Adgre1
adhesion G protein-coupled receptor E1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,242,476...2,398,000
Ensembl chr 9:2,242,474...2,398,000
G
Alkbh7
alkB homolog 7
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,838,886...1,841,044
Ensembl chr 9:1,838,811...1,841,044
G
Angptl4
angiopoietin-like 4
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
G
Arhgef18
Rho/Rac guanine nucleotide exchange factor 18
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081
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C3
complement C3
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Camsap3
calmodulin regulated spectrin-associated protein family, member 3
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,643,062...1,666,685
Ensembl chr12:1,643,251...1,666,685
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Ccl25
C-C motif chemokine ligand 25
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554
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Cd209d
CD209d molecule
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
G
Cd320
CD320 molecule
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976
G
Cd70
Cd70 molecule
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715
G
Cers4
ceramide synthase 4
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr12:2,851,784...2,890,244
Ensembl chr12:2,851,784...2,886,828
G
Clec4g
C-type lectin domain family 4, member G
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,780,370...1,785,027
Ensembl chr12:1,780,371...1,784,985
G
Clec4m
C-type lectin domain family 4 member M
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
G
Clpp
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
G
Crb3
crumbs cell polarity complex component 3
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,898,531...1,903,860
Ensembl chr 9:1,896,623...1,903,859
G
Ctxn1
cortexin 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,610,465...2,612,076
G
Dennd1c
DENN domain containing 1C
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,904,040...1,916,329
Ensembl chr 9:1,904,045...1,916,187
G
Elavl1
ELAV like RNA binding protein 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,640,936...2,684,787
Ensembl chr12:2,645,061...2,684,784
G
Evi5l
ecotropic viral integration site 5-like
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,519,648...2,558,766
Ensembl chr12:2,519,671...2,559,950
G
Fcer2
Fc epsilon receptor II
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
G
Gpr108
G protein-coupled receptor 108
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,120,740...2,131,771
Ensembl chr 9:2,120,744...2,132,572
G
Gtf2f1
general transcription factor IIF subunit 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,844,027...1,853,455
Ensembl chr 9:1,843,901...1,853,423
G
Hnrnpm
heterogeneous nuclear ribonucleoprotein M
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,438,703...14,476,781
Ensembl chr 7:14,438,688...14,476,762
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Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Kank3
KN motif and ankyrin repeat domains 3
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,594,358...14,607,675
Ensembl chr 7:14,594,422...14,607,675
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Khsrp
KH-type splicing regulatory protein
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,862,555...1,872,403
Ensembl chr 9:1,862,899...1,872,451
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Lrrc8e
leucine rich repeat containing 8 VRAC subunit E
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,578,240...2,589,407
Ensembl chr12:2,578,315...2,589,412
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Map2k7
mitogen activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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Marchf2
membrane associated ring-CH-type finger 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,480,605...14,507,821
Ensembl chr 7:14,481,761...14,507,794
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Mbd3l2
methyl-CpG binding domain protein 3-like 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 8:15,607,477...15,614,046
Ensembl chr 8:15,611,214...15,612,563
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Mcemp1
mast cell-expressed membrane protein 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,721,781...1,727,350
Ensembl chr12:1,718,730...1,725,986
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Mcoln1
mucolipin TRP cation channel 1
ISO ISS
ClinVar Annotator: match by term: Mucolipidosis type 4 | ClinVar Annotator: match by term: Mucolipidosis type IV OMIM:252650
OMIM ClinVar MouseDO
PMID:9536098 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 PMID:11551108 PMID:11845410 PMID:12125810 PMID:12182165 PMID:14749347 PMID:15178326 PMID:15523648 PMID:16199547 PMID:16257972 PMID:16287144 PMID:16645217 PMID:16978393 PMID:17239335 PMID:17306511 PMID:17384215 PMID:17576681 PMID:18326692 PMID:18794901 PMID:19815695 PMID:20159435 PMID:21763169 PMID:22268962 PMID:22281206 PMID:23555759 PMID:23685283 PMID:24033266 PMID:25119295 PMID:25465891 PMID:25741868 PMID:25933391 PMID:26467025 PMID:27670435 PMID:28112729 PMID:28492532 PMID:28604674 PMID:28936784 PMID:29019983 PMID:30120981 PMID:31578829 PMID:31618753 PMID:31623504 PMID:31899079 PMID:32214227 PMID:32860008 PMID:33454187 PMID:33963976 PMID:35425852 PMID:36344503 PMID:37972748 More...
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Myo1f
myosin IF
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,363,340...14,413,911
Ensembl chr 7:14,363,350...14,413,911
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Ndufa7
NADH:ubiquinone oxidoreductase subunit A7
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,609,283...14,622,064
Ensembl chr 7:14,609,146...14,631,976
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Pcp2
Purkinje cell protein 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,681,659...1,683,899
Ensembl chr12:1,681,659...1,683,899
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Pet100
PET100 cytochrome c oxidase chaperone
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
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Pex11g
peroxisomal biogenesis factor 11 gamma
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Pram1
PML-RARA regulated adaptor molecule 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,428,548...14,438,081
Ensembl chr 7:14,420,165...14,438,166
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Pspn
persephin
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,840,906...1,841,748
Ensembl chr 9:1,840,896...1,854,327
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Rab11b
RAB11B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,521,448...14,534,589
Ensembl chr 7:14,521,368...14,534,593
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Retn
resistin
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Rps28
ribosomal protein S28
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170 Ensembl chr16:14,607,801...14,609,170
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Saxo5
stabilizer of axonemal microtubules 5
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,520,983...1,538,127
Ensembl chr12:1,521,014...1,538,118
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Sh2d3a
SH2 domain containing 3A
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,148,803...2,158,150
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Slc25a23
solute carrier family 25 member 23
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,882,636...1,898,369
Ensembl chr 9:1,882,621...1,898,561
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Slc25a41
solute carrier family 25, member 41
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,873,692...1,881,405
Ensembl chr 9:1,873,692...1,881,424
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Snapc2
small nuclear RNA activating complex, polypeptide 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,605,794...2,608,997
Ensembl chr12:2,605,810...2,608,999
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Stxbp2
syntaxin binding protein 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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Tgfbr3l
transforming growth factor beta receptor 3 like
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,600,874...2,604,211
Ensembl chr12:2,600,934...2,604,222
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Timm44
translocase of inner mitochondrial membrane 44
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
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Tnfsf14
TNF superfamily member 14
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,068,295...2,073,128
Ensembl chr 9:2,069,104...2,073,216
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Tnfsf9
TNF superfamily member 9
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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Trappc5
trafficking protein particle complex subunit 5
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,737,666...1,741,312
Ensembl chr12:1,737,627...1,742,637
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Trip10
thyroid hormone receptor interactor 10
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,133,085...2,147,795
Ensembl chr 9:2,133,671...2,147,799
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Tubb4a
tubulin, beta 4A class IVa
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Vav1
vav guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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Xab2
XPA binding protein 2
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,667,672...1,679,702
Ensembl chr12:1,667,672...1,679,692
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Zfp358
zinc finger protein 358
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:11030752 PMID:11317355 PMID:28492532
NCBI chr12:1,552,367...1,556,460
Ensembl chr12:1,552,366...1,556,460
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Zfp414
zinc finger protein 414
ISO
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar
PMID:28492532
NCBI chr 7:14,420,232...14,422,939
Ensembl chr 7:14,420,165...14,438,166
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Multiple sulfatase deficiency
ClinVar
PMID:28492532
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Sumf1
sulfatase modifying factor 1
ISS
OMIM:272200
MouseDO
NCBI chr 4:141,078,735...141,160,711
Ensembl chr 4:141,078,741...141,160,708
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Sumf2
sulfatase modifying factor 2
ISO
ClinVar Annotator: match by term: Multiple sulfatase deficiency
ClinVar
PMID:12757706
NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816
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Pign
phosphatidylinositol glycan anchor biosynthesis, class N
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome
ClinVar
PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26394714 PMID:27038415 PMID:28492532 PMID:30293990 PMID:30609409 More...
NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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Bcl2
BCL2, apoptosis regulator
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Kdsr
3-ketodihydrosphingosine reductase
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
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Phlpp1
PH domain and leucine rich repeat protein phosphatase 1
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
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Pign
phosphatidylinositol glycan anchor biosynthesis, class N
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 PMID:18606301 PMID:21493957 PMID:22271396 PMID:24033266 PMID:24253414 PMID:24852103 PMID:25640679 PMID:25741868 PMID:26364997 PMID:26394714 PMID:26419326 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26879448 PMID:26964041 PMID:27038415 PMID:27290639 PMID:27891564 PMID:28273706 PMID:28327575 PMID:28492532 PMID:29096607 PMID:29330547 PMID:30293990 PMID:30609409 PMID:30660939 PMID:30665423 PMID:31440721 PMID:31628766 PMID:32064623 PMID:32220244 PMID:32860008 PMID:33193741 PMID:33502061 PMID:33619735 PMID:33763700 PMID:34051595 PMID:34426522 PMID:34782754 PMID:34906502 PMID:35179230 PMID:35322241 PMID:35468813 PMID:35982159 PMID:36322149 More...
NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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Relch
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
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Serpinb10
serpin family B member 10
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
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Serpinb11
serpin family B member 11
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
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Serpinb12
serpin family B member 12
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,052,384...23,083,691
Ensembl chr13:23,052,448...23,083,691
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Serpinb13
serpin family B member 13
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,118,582...23,150,352
Ensembl chr13:23,118,584...23,150,760
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Serpinb2
serpin family B member 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
G
Serpinb3
serpin family B member 3
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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Serpinb3a
serpin family B member 3A
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
G
Serpinb5
serpin family B member 5
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
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Serpinb7
serpin family B member 7
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
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Serpinb8
serpin family B member 8
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Vps4b
vacuolar protein sorting 4 homolog B
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
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Zcchc2
zinc finger CCHC-type containing 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
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Ace2
angiotensin converting enzyme 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
G
Ap1s2
adaptor related protein complex 1 subunit sigma 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
G
Asb11
ankyrin repeat and SOCS box containing 11
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807
G
Asb9
ankyrin repeat and SOCS box-containing 9
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:29,956,576...30,001,436
Ensembl chr X:29,956,576...30,001,105
G
Bmx
BMX non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993
G
Car5b
carbonic anhydrase 5B
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837
G
Cltrn
collectrin, amino acid transport regulator
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349
G
Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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Mospd2
motile sperm domain containing 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:29,420,485...29,472,099
Ensembl chr X:29,420,586...29,462,398
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Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 PMID:10087994 PMID:15307104 PMID:17576681 PMID:19377476 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26467025 PMID:26545172 PMID:27353043 PMID:28133863 PMID:28441409 PMID:28492532 PMID:29159939 PMID:29310717 PMID:29314583 PMID:29656098 PMID:31164858 PMID:31175295 PMID:31618474 PMID:31704190 PMID:32176464 PMID:32220244 PMID:32452540 PMID:32694024 PMID:33333793 PMID:33763700 PMID:34355501 PMID:34782754 More...
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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Pir
pirin
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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Vegfd
vascular endothelial growth factor D
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar
PMID:24706016 PMID:26545172 PMID:28492532
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder
OMIM CTD ClinVar
PMID:9934988 PMID:16199547 PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 PMID:28327575 PMID:28492532 PMID:28728837 PMID:30813157 PMID:30976099 PMID:32220244 PMID:32404165 PMID:32581362 PMID:32725661 PMID:34046058 PMID:36177944 More...
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pigq
phosphatidylinositol glycan anchor biosynthesis, class Q
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
OMIM ClinVar
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31148362 PMID:32588908 PMID:32746448 More...
NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
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Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Madelung's disease | ClinVar Annotator: match by term: Multiple symmetric lipomatosis
OMIM ClinVar
PMID:18458227 PMID:20008656 PMID:20350294 PMID:20482598 PMID:22492563 PMID:24033266 PMID:24126688 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:28251916 PMID:28414270 PMID:28492532 PMID:29358271 PMID:30158064 PMID:33415332 PMID:33502018 More...
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Coasy
Coenzyme A synthase
ISO
ClinVar Annotator: match by term: Lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841
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Flad1
flavin adenine dinucleotide synthetase 1
ISO
ClinVar Annotator: match by term: FLAD1-related condition | ClinVar Annotator: match by term: Myopathy with abnormal lipid metabolism CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27259049 PMID:28492532 PMID:31392824
NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
ClinVar
PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 PMID:18546367 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:23870839 PMID:24899047 PMID:24990881 PMID:25615530 PMID:25741868 PMID:27995897 PMID:28492532 PMID:28559417 PMID:28768830 PMID:29142083 PMID:29557178 PMID:30042649 PMID:33969597 More...
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO ISS
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 PMID:17430113 PMID:20500450 PMID:22082900 PMID:25741868 PMID:27658901 PMID:28492532 PMID:28620717 PMID:31996268 PMID:36133075 More...
NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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Neu1
neuraminidase 1
ISO
ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:17576681 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:32453490 PMID:32485644 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34992946 PMID:35036219 More...
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Pigk
phosphatidylinositol glycan anchor biosynthesis, class K
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
OMIM ClinVar
PMID:25741868 PMID:32220290 PMID:33392778
NCBI chr 2:241,630,021...241,715,493
Ensembl chr 2:241,630,053...241,716,134
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Aagab
alpha- and gamma-adaptin binding protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
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Abhd16b
abhydrolase domain containing 16B
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
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Abhd18
abhydrolase domain containing 18
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
NCBI chr 2:123,872,299...123,920,987
Ensembl chr 2:123,872,386...123,920,231
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Adrm1
ADRM1 26S proteasome ubiquitin receptor
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195
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Ap2a2
adaptor related protein complex 2 subunit alpha 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603
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Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
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Apobr
apolipoprotein B receptor
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,169,019...181,173,206
Ensembl chr 1:181,168,916...181,173,528
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Arfgap1
ADP-ribosylation factor GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
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Arfip2
ADP-ribosylation factor interacting protein 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,974,255...159,980,398
Ensembl chr 1:159,974,201...159,980,336
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Arfrp1
ADP-ribosylation factor related protein 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
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Arhgef10
Rho guanine nucleotide exchange factor 10
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:15024724 PMID:28116333 PMID:28492532
NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173
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Arsg
arylsulfatase G
ISO
Lysosomal storage disease, ARSG related
OMIA
PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 PMID:20679209 PMID:22689975 PMID:23338040 PMID:24069350 PMID:25135642 PMID:25452429 PMID:27778018 PMID:28860089 PMID:32219101 PMID:37290756 PMID:37341581 More...
NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941
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Ascl2
achaete-scute family bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406
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Atp13a2
ATPase cation transporting 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22022275 PMID:22847264
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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Atp2a1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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Atxn2l
ataxin 2-like
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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Bhlhe23
basic helix-loop-helix family, member e23
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223
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Birc7
baculoviral IAP repeat-containing 7
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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Brsk2
BR serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092
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C1h11orf42
similar to human chromosome 11 open reading frame 42
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,722,255...159,725,863
Ensembl chr 1:159,718,679...159,725,904
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C8h15orf61
similar to human chromosome 15 open reading frame 61
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751
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Cables2
Cdk5 and Abl enzyme substrate 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279
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Calml4
calmodulin-like 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234
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Cavin3
caveolae associated protein 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,826,549...159,828,138
Ensembl chr 1:159,826,549...159,828,161
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Cckbr
cholecystokinin B receptor
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,771,733...159,781,738
Ensembl chr 1:159,771,733...159,814,881
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Cd151
CD151 molecule (Raph blood group)
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
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Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cd81
Cd81 molecule
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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Cdhr5
cadherin-related family member 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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Cend1
cell cycle exit and neuronal differentiation 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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Chid1
chitinase domain containing 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606
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Chrna4
cholinergic receptor nicotinic alpha 4 subunit
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Clcn3
chloride voltage-gated channel 3
ISO
RGD
PMID:12059962
RGD:734783
NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119
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Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD ClinVar
PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:15818814 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19135632 PMID:19489875 PMID:20187884 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23142271 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27104957 PMID:27290639 PMID:27486012 PMID:27533158 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:28792770 PMID:29049447 PMID:29053603 PMID:29343940 PMID:29753273 PMID:30446867 PMID:30769084 PMID:31568712 PMID:31736247 PMID:32037395 PMID:32154056 PMID:32441891 PMID:32581362 PMID:32631363 PMID:32685355 PMID:33497524 PMID:33507216 PMID:33921607 PMID:34906470 PMID:35929194 PMID:36139381 PMID:36909829 More...
NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
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Cln5
CLN5, intracellular trafficking protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:9536098 PMID:9662406 PMID:10528251 PMID:10953198 PMID:11727201 PMID:11971870 PMID:12134079 PMID:12673792 PMID:15349861 PMID:15728307 PMID:16199547 PMID:16814585 PMID:17576681 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20127975 PMID:20157158 PMID:20301601 PMID:20490930 PMID:20960652 PMID:21447811 PMID:21990111 PMID:22532218 PMID:22589734 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25525159 PMID:25640679 PMID:25677497 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27553520 PMID:27884173 PMID:28492532 PMID:28542837 PMID:29482223 PMID:29655203 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30394532 PMID:30655561 PMID:30919163 PMID:31069529 PMID:31105743 PMID:31130284 PMID:31406620 PMID:31741823 PMID:32005694 PMID:32393339 PMID:32983231 PMID:34906502 PMID:36339300 More...
NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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Cln6
CLN6, transmembrane ER protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis DNA:mutations: : CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 PMID:15265688 PMID:15996215 PMID:16199547 PMID:17046213 PMID:17453415 PMID:17576681 PMID:17988881 PMID:18414213 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:19201763 PMID:20020536 PMID:20301601 PMID:20430023 PMID:21359198 PMID:21549341 PMID:21819394 PMID:21990111 PMID:22883287 PMID:23789114 PMID:24102492 PMID:24215330 PMID:25359263 PMID:25401298 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:26539891 PMID:27535533 PMID:27553520 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:29140481 PMID:29709712 PMID:30019023 PMID:30285654 PMID:30528883 PMID:30561534 PMID:31216804 PMID:31319225 PMID:31489614 PMID:31741823 PMID:31743419 PMID:32171521 PMID:33024953 PMID:34597687 PMID:34868216 PMID:35505348 PMID:36435927 PMID:11791207 PMID:21549341 PMID:11791207 More...
RGD:1358512 , RGD:11064442 , RGD:1358512
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Cln8
CLN8, transmembrane ER and ERGIC protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD ClinVar
PMID:2199011 PMID:9536098 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:17576681 PMID:18414213 PMID:19201763 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:22220808 PMID:22302580 PMID:23374165 PMID:24767253 PMID:25326637 PMID:25741868 PMID:25806950 PMID:25976102 PMID:26075876 PMID:26443629 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29915382 PMID:29961513 PMID:30397314 PMID:30741402 PMID:30919163 PMID:31069529 PMID:31130284 PMID:31741823 PMID:32348865 PMID:33358637 PMID:36011304 PMID:36912596 More...
NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
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Cnga4
cyclic nucleotide gated channel subunit alpha 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,752,357...159,756,369
Ensembl chr 1:159,752,357...159,756,375
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Col20a1
collagen type XX alpha 1 chain
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
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Col9a3
collagen type IX alpha 3 chain
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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Coro2b
coronin 2B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302
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Cracr2b
calcium release activated channel regulator 2B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771
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Ctsd
cathepsin D
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:16685649 PMID:17576681 PMID:18762956 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26059544 PMID:26467025 PMID:27249223 PMID:28492532 PMID:29140481 PMID:29373990 PMID:32421885 PMID:33681191 PMID:34331747 More...
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Ctsf
cathepsin F
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
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Deaf1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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Dido1
death inducer-obliterator 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Dis3l
DIS3-like exosome 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165
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Dnajc5
DnaJ heat shock protein family (Hsp40) member C5
ISO
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9536098 PMID:17576681 PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25741868 PMID:25921748 PMID:26467025 PMID:28492532 PMID:29215089 PMID:30866059 PMID:32412666 PMID:32662538 PMID:33179747 PMID:34720963 More...
NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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Dnhd1
dynein heavy chain domain 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
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Drd4
dopamine receptor D4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Dusp8
dual specificity phosphatase 8
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921
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Ednrb
endothelin receptor type B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Eef1a2
eukaryotic translation elongation factor 1 alpha 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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Eif3c
eukaryotic translation initiation factor 3, subunit C
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493
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Eps8l2
EPS8-like 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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Fbxl3
F-box and leucine-rich repeat protein 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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Fem1b
fem-1 homolog B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577
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Fhip1b
FHF complex subunit HOOK interacting protein 1B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,718,679...159,748,449
Ensembl chr 1:159,726,004...159,748,408
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Fndc11
fibronectin type III domain containing 11
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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Gata5
GATA binding protein 5
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gatd1
glutamine amidotransferase class 1 domain containing 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
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Gid8
GID complex subunit 8 homolog
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814
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Gmeb2
glucocorticoid modulatory element binding protein 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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Gsg1l
GSG1-like
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,440,398...180,654,342
Ensembl chr 1:180,442,630...180,654,134
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Gtf3c1
general transcription factor IIIC subunit 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,203,995...180,270,201
Ensembl chr 1:180,203,995...180,270,201
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H19
H19 imprinted maternally expressed transcript
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Helz2
helicase with zinc finger 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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Hpx
hemopexin
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
protein:increased expression:brain
RGD
PMID:21094208
RGD:5686293
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Ifitm10
interferon induced transmembrane protein 10
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151
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Igf2
insulin-like growth factor 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il27
interleukin 27
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Ilk
integrin-linked kinase
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Iqch
IQ motif containing H
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223
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Irf7
interferon regulatory factor 7
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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Itga11
integrin subunit alpha 11
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407
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Katnip
katanin interacting protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Kctd7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:22748208 PMID:25741868 PMID:25976102 PMID:27742667 PMID:28492532 PMID:30295347 PMID:31130284 More...
NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
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Krtap5-1
keratin associated protein 5-1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,278,886...197,279,893
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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Lat
linker for activation of T cells
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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Lctl
lactase-like
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357
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Lime1
Lck interacting transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
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Lmntd2
lamin tail domain containing 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
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LOC120094551
U6 spliceosomal RNA
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lsp1
lymphocyte-specific protein 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
G
Map2k5
mitogen activated protein kinase kinase 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
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Megf11
multiple EGF-like-domains 11
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061
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Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:19201763 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25333361 PMID:25741868 PMID:26075876 PMID:28041643 PMID:28492532 PMID:28586915 PMID:28708303 PMID:31006324 PMID:31741823 PMID:32037395 PMID:32581362 PMID:34910516 PMID:35087090 More...
NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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Mir1b
microRNA 1b
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201
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Mir210
microRNA 210
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Mir3582
microRNA 3582
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180
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Mob2
MOB kinase activator 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933
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Mrgbp
MRG domain binding protein
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592
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Mrpl23
mitochondrial ribosomal protein L23
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
G
Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
G
Mycbp2
MYC binding protein 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
G
Nfatc2ip
nuclear factor of activated T-cells 2 interacting protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747
G
Nkain4
Sodium/potassium transporting ATPase interacting 4
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925
G
Ntsr1
neurotensin receptor 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377
G
Nupr1
nuclear protein 1, transcriptional regulator
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281
G
Ogfr
opioid growth factor receptor
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473
G
Or52b2
olfactory receptor family 52 subfamily B member 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,695,507...159,696,475
Ensembl chr 1:159,694,964...159,701,227
G
Or52e4
olfactory receptor family 52 subfamily E member 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,454,581...159,455,519
Ensembl chr 1:159,454,581...159,455,519
G
Or52e8
olfactory receptor family 52 subfamily E member 8
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,360,430...159,361,380
Ensembl chr 1:159,360,430...159,361,380
G
Or52l1b
olfactory receptor family 52 subfamily L member 1B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,543,892...159,544,842
Ensembl chr 1:159,543,892...159,544,887
G
Or52n1
olfactory receptor family 52 subfamily N member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,128,222...159,129,187
Ensembl chr 1:159,128,222...159,129,187
G
Or52n2
olfactory receptor family 52 subfamily N member 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,204,524...159,205,480
Ensembl chr 1:159,203,518...159,207,587
G
Or52n4c
olfactory receptor family 52 subfamily N member 4C
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:158,972,002...158,972,967
Ensembl chr 1:158,972,002...158,972,971
G
Or52w1
olfactory receptor family 52 subfamily W member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,715,755...159,716,744
Ensembl chr 1:159,715,755...159,716,744
G
Or52x1
olfactory receptor family 52 subfamily X member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,601,106...159,602,059
Ensembl chr 1:159,600,106...159,604,707
G
Or56a3b
olfactory receptor family 56 subfamily A member 3B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,476,168...159,477,115
Ensembl chr 1:159,472,054...159,479,841
G
Or56a5
olfactory receptor family 56 subfamily A member 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,500,672...159,501,610
Ensembl chr 1:159,500,672...159,501,610
G
Or56b1
olfactory receptor family 56 subfamily B member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:158,910,597...158,911,556
Ensembl chr 1:158,904,179...158,911,730
G
Or56b6
olfactory receptor family 56 subfamily B member 6
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,619,288...159,620,253
Ensembl chr 1:159,616,811...159,622,534
G
Osbpl2
oxysterol binding protein-like 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
G
Phrf1
PHD and ring finger domains 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
G
Pias1
protein inhibitor of activated STAT, 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
G
Pidd1
p53-induced death domain protein 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
G
Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
G
Polr2l
RNA polymerase II, I and III subunit L
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,570,051...196,572,060
G
Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
G
Ppt1
palmitoyl-protein thioesterase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11589012 PMID:12382155 PMID:14997939 PMID:15965709 PMID:16199547 PMID:16644870 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:18704195 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:20301601 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:26707855 PMID:26795593 PMID:28492532 PMID:28878621 PMID:29631617 PMID:30842224 PMID:30952489 PMID:31741823 PMID:33561134 PMID:35217970 More...
NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048
G
Ppt2
palmitoyl-protein thioesterase 2
ISO ISS
MouseDO RGD
PMID:11717424
RGD:734785
NCBI chr20:4,112,520...4,132,774
Ensembl chr20:4,122,463...4,132,774
G
Prpf6
pre-mRNA processing factor 6
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
G
Ptk6
protein tyrosine kinase 6
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
G
Rab11a
RAB11a, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
G
Rabep2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
G
Rassf7
Ras association domain family member 7
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
G
Rbbp8nl
RBBP8 N-terminal like
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092
G
Rpl4
ribosomal protein L4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306
G
Rplp2
ribosomal protein lateral stalk subunit P2
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
G
Rps21-ps1
ribosomal protein S21, pseudogene 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427
G
Rrp8
ribosomal RNA processing 8
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:160,081,092...160,088,709
Ensembl chr 1:160,084,295...160,089,331
G
Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
G
Sbk1
SH3 domain binding kinase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,807,092...180,851,910
Ensembl chr 1:180,807,099...180,851,885
G
Scel
sciellin
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
G
Sct
secretin
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
G
Sgf29
SAGA complex associated factor 29
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,238,458...181,271,931
Ensembl chr 1:181,238,468...181,274,781
G
Sh2b1
SH2B adaptor protein 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
G
Skor1
SKI family transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756
G
Slain1
SLAIN motif family, member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 PMID:28492532 PMID:30394532 PMID:31406620 PMID:32393339 More...
NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
G
Slc17a9
solute carrier family 17 member 9
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
G
Slc25a22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
G
Slc2a4rg
SLC2A4 regulator
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,493,975...168,497,616
G
Slco4a1
solute carrier organic anion transporter family, member 4a1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305
G
Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
G
Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
G
Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
G
Snapc5
small nuclear RNA activating complex, polypeptide 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
G
Sod2
superoxide dismutase 2
ISO
RGD
PMID:12946273
RGD:1581253
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Spns1
SPNS lysolipid transporter 1, lysophospholipid
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
G
Srms
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
G
Stmn3
stathmin 3
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
G
Sult1a1
sulfotransferase family 1A member 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
G
Syt8
synaptotagmin 8
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504
G
Taf10
TATA-box binding protein associated factor 10
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376
G
Taldo1
transaldolase 1
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
G
Tcfl5
transcription factor like 5
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282
G
Th
tyrosine hydroxylase
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
G
Timm10b
translocase of inner mitochondrial membrane 10B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,980,525...159,983,371
Ensembl chr 1:159,980,484...159,981,642
G
Tipin
timeless interacting protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352
G
Tmem80
transmembrane protein 80
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
G
Tnni2
troponin I2, fast skeletal type
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
G
Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
G
Tollip
toll interacting protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
G
Tpd52l2
TPD52 like 2
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762
G
Tpp1
tripeptidyl peptidase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10320038 PMID:10330339 PMID:10356316 PMID:10665500 PMID:10862088 PMID:11017954 PMID:11054422 PMID:11071145 PMID:11339651 PMID:11589009 PMID:11589012 PMID:11589013 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:15965709 PMID:16199547 PMID:16782851 PMID:16814585 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18411270 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20301601 PMID:20340139 PMID:20820830 PMID:21990111 PMID:22245569 PMID:22344438 PMID:22612257 PMID:22832778 PMID:23266810 PMID:23374165 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24091540 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26026925 PMID:26075876 PMID:26143525 PMID:26224725 PMID:26467025 PMID:26633542 PMID:26795593 PMID:27146152 PMID:27407112 PMID:27553520 PMID:28165011 PMID:28335910 PMID:28464005 PMID:28492532 PMID:28554332 PMID:29056246 PMID:29631617 PMID:29655203 PMID:29687370 PMID:30119717 PMID:30541466 PMID:30771299 PMID:30792901 PMID:31059981 PMID:31069529 PMID:31122803 PMID:31139143 PMID:31216804 PMID:31283065 PMID:31440721 PMID:31489614 PMID:31589614 PMID:31741823 PMID:32146219 PMID:32329550 PMID:32412666 PMID:33348105 PMID:33377563 PMID:33604240 PMID:34849271 PMID:35314707 PMID:35796208 More...
NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
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Trim3
tripartite motif-containing 3
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:159,950,921...159,973,600
Ensembl chr 1:159,944,908...159,973,600
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Trpm5
transient receptor potential cation channel, subfamily M, member 5
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654
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Tspan32
tetraspanin 32
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445
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Tspan4
tetraspanin 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448
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Tssc4
tumor suppressing subtransferable candidate 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980
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Tufm
Tu translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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Xpo6
exportin 6
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:9311735 PMID:28492532 PMID:28542676
NCBI chr 1:180,672,114...180,761,543
Ensembl chr 1:180,672,119...180,761,543
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Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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Zbtb46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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Zfp512b
zinc finger protein 512B
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:25921748 PMID:28492532 PMID:30866059
NCBI chr 3:168,687,520...168,698,067
Ensembl chr 3:168,687,521...168,698,091
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Zgpat
zinc finger CCCH-type and G-patch domain containing
ISO
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
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Zwilch
zwilch kinetochore protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar
PMID:28492532
NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916
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Cln8
CLN8, transmembrane ER and ERGIC protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
ClinVar
PMID:28492532 PMID:29503925
NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
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Fis1
fission, mitochondrial 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Kctd7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
ClinVar
PMID:28492532
NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
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Mfn1
mitofusin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Ppargc1a
PPARG coactivator 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppt1
palmitoyl-protein thioesterase 1
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 | ClinVar Annotator: match by term: PPT1-related condition OMIM:256730 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10191109 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11520175 PMID:11589012 PMID:11727201 PMID:12125808 PMID:12382155 PMID:12796825 PMID:12855696 PMID:14997939 PMID:15464427 PMID:15965709 PMID:16199547 PMID:16644870 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:17576681 PMID:18414213 PMID:18704195 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:20301601 PMID:21224254 PMID:21228398 PMID:21499717 PMID:21704547 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24033266 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25640679 PMID:25741868 PMID:26075876 PMID:26275418 PMID:26467025 PMID:26510000 PMID:26707855 PMID:26795593 PMID:27722792 PMID:28492532 PMID:28559085 PMID:28878621 PMID:29631617 PMID:29655203 PMID:30378543 PMID:30541466 PMID:30842224 PMID:30952489 PMID:31440721 PMID:31741823 PMID:33528079 PMID:33547378 PMID:33561134 PMID:34114234 PMID:34906470 PMID:35217970 PMID:35693655 PMID:11717424 More...
RGD:734785
NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048
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Rps6kb1
ribosomal protein S6 kinase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Syp
synaptophysin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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Tfam
transcription factor A, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224254
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Ctsd
cathepsin D
ISO ISS
OMIM:610127 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10
OMIM MouseDO CTD ClinVar
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26467025 PMID:27249223 PMID:28492532 PMID:29140481 PMID:33681191 More...
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Grn
granulin precursor
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16862116 PMID:16950801 PMID:17698705 PMID:18192287 PMID:18234697 PMID:18245784 PMID:18392865 PMID:18723524 PMID:19020205 PMID:19158106 PMID:19683260 PMID:20028451 PMID:20045477 PMID:20142524 PMID:20522652 PMID:20947212 PMID:21403024 PMID:21891869 PMID:22127750 PMID:22312439 PMID:22491866 PMID:22608501 PMID:23117491 PMID:25525159 PMID:25546130 PMID:25741868 PMID:26467025 PMID:26652843 PMID:28492532 PMID:29614680 PMID:30279455 PMID:30528841 PMID:31122931 PMID:31600775 PMID:32507413 PMID:33203472 More...
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Ctsf
cathepsin F
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17828264 PMID:23297359 PMID:25274848 PMID:25741868 PMID:26467025 PMID:27120077 PMID:27524508 PMID:28492532 More...
NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
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Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
ClinVar
PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26467025 PMID:26681805 PMID:27884173 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:30382371 PMID:31489614 PMID:32399599 PMID:33546218 PMID:34828358 More...
NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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Tpp1
tripeptidyl peptidase 1
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 OMIM:204500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
OMIM ClinVar MouseDO CTD
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 PMID:10477428 PMID:10665500 PMID:10862088 PMID:11017954 PMID:11054422 PMID:11071145 PMID:11241479 PMID:11339651 PMID:11462245 PMID:11589012 PMID:11589013 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:15965709 PMID:16199547 PMID:16782851 PMID:16814585 PMID:16880378 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18411270 PMID:18414213 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20301601 PMID:20340139 PMID:20820830 PMID:21990111 PMID:22221116 PMID:22245569 PMID:22344438 PMID:22612257 PMID:22752289 PMID:22832778 PMID:23266810 PMID:23374165 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24091540 PMID:24767253 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26026925 PMID:26032578 PMID:26075876 PMID:26224725 PMID:26467025 PMID:26633542 PMID:26795593 PMID:27407112 PMID:27553520 PMID:27776828 PMID:28165011 PMID:28335910 PMID:28464005 PMID:28492532 PMID:28554332 PMID:28717666 PMID:29056246 PMID:29631617 PMID:29655203 PMID:29687370 PMID:29924869 PMID:30119717 PMID:30541466 PMID:30771299 PMID:30792901 PMID:30831263 PMID:31059981 PMID:31069529 PMID:31122803 PMID:31139143 PMID:31283065 PMID:31489614 PMID:31589614 PMID:31741823 PMID:32005694 PMID:32146219 PMID:32329550 PMID:32412666 PMID:32580858 PMID:32855042 PMID:33348105 PMID:33377563 PMID:33604240 PMID:34126256 PMID:34849271 PMID:35314707 More...
NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129
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Clcn3
chloride voltage-gated channel 3
ISS
OMIM:204200
MouseDO
NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119
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Clcn6
chloride voltage-gated channel 6
ISS
OMIM:204200
MouseDO
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
ISO ISS
ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease OMIM:204200
OMIM ClinVar MouseDO
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:14699076 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19135632 PMID:19489875 PMID:20187884 PMID:20301601 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23142271 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:24625443 PMID:24827497 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27104957 PMID:27290639 PMID:27486012 PMID:27533158 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:28792770 PMID:29049447 PMID:29053603 PMID:29343940 PMID:29753273 PMID:30446867 PMID:30769084 PMID:31568712 PMID:31736247 PMID:32037395 PMID:32154056 PMID:32441891 PMID:32581362 PMID:32685355 PMID:33497524 PMID:33507216 PMID:33921607 PMID:34906470 PMID:35929194 PMID:36139381 PMID:36909829 More...
NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
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Ppt1
palmitoyl-protein thioesterase 1
ISS
OMIM:204200
MouseDO
NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048
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Dnajc5
DnaJ heat shock protein family (Hsp40) member C5
ISO
ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B
OMIM ClinVar
PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 PMID:22978711 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31919451 More...
NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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Cln5
CLN5, intracellular trafficking protein
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 OMIM:256731 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15207259 PMID:15349861 PMID:15728307 PMID:16199547 PMID:16814585 PMID:17576681 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20490930 PMID:20960652 PMID:21447811 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25525159 PMID:25677497 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27553520 PMID:27884173 PMID:28492532 PMID:28542837 PMID:29482223 PMID:29655203 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30655561 PMID:30919163 PMID:31105743 PMID:31130284 PMID:31319225 PMID:31493945 PMID:31741823 PMID:32005694 PMID:32983231 PMID:34906502 PMID:36339300 More...
NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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Cln6
CLN6, transmembrane ER protein
ISO ISS
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 OMIM:601780 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:15265688 PMID:15996215 PMID:16199547 PMID:17453415 PMID:17576681 PMID:18414213 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:19201763 PMID:20020536 PMID:20301601 PMID:21359198 PMID:21549341 PMID:21819394 PMID:21990111 PMID:23516525 PMID:25359263 PMID:25401298 PMID:25590979 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:26539891 PMID:27553520 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:29140481 PMID:29709712 PMID:30019023 PMID:30285654 PMID:30528883 PMID:30561534 PMID:31216804 PMID:31319225 PMID:31489614 PMID:31743419 PMID:32171521 PMID:33024953 PMID:34597687 PMID:34868216 PMID:35505348 More...
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A
ClinVar
PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 PMID:23252888 PMID:23430884 PMID:24767253 PMID:25741868 PMID:26499107 PMID:28492532 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Stx6
syntaxin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
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Syp
synaptophysin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23516525
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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Cln6
CLN6, transmembrane ER protein
ISO
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A
OMIM ClinVar
PMID:3284607 PMID:12673792 PMID:12815591 PMID:14997940 PMID:18846690 PMID:19135028 PMID:19201763 PMID:21549341 PMID:21990111 PMID:25359263 PMID:25741868 PMID:26075876 PMID:26115733 PMID:26467025 PMID:26539891 PMID:27535533 PMID:27903347 PMID:28492532 PMID:30285654 PMID:30561534 PMID:31489614 PMID:33875558 PMID:34868216 PMID:35505348 PMID:36435927 More...
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Abhd18
abhydrolase domain containing 18
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,872,299...123,920,987
Ensembl chr 2:123,872,386...123,920,231
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Hspa4l
heat shock protein family A (Hsp70) member 4 like
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,740,384...123,793,088
Ensembl chr 2:123,740,384...123,793,084
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Intu
inturned planar cell polarity protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Larp1b
La ribonucleoprotein 1B
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,936,057...123,969,254
Ensembl chr 2:123,935,983...123,968,896
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Mfsd8
major facilitator superfamily domain containing 8
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 OMIM:610951 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9177532 PMID:9536098 PMID:15074367 PMID:16199547 PMID:17564970 PMID:17576681 PMID:18414213 PMID:18850119 PMID:19177532 PMID:19201763 PMID:19277732 PMID:20826447 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25333361 PMID:25439737 PMID:25640679 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26467025 PMID:26681805 PMID:27146152 PMID:27848944 PMID:27884173 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:28708303 PMID:28794409 PMID:29389947 PMID:29655203 PMID:29924869 PMID:30382371 PMID:30548430 PMID:31006324 PMID:31216804 PMID:31489614 PMID:31597037 PMID:31618753 PMID:31721179 PMID:31741823 PMID:32005694 PMID:32037395 PMID:32399599 PMID:32581362 PMID:33084218 PMID:33546218 PMID:34828358 PMID:34910516 PMID:35087090 More...
NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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Plk4
polo-like kinase 4
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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Slc25a31
solute carrier family 25 member 31
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
PMID:19177532 PMID:28492532
NCBI chr 2:123,695,387...123,711,275
Ensembl chr 2:123,695,408...123,710,795
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Cln8
CLN8, transmembrane ER and ERGIC protein
ISO ISS
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 OMIM:600143 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:19201763 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:22220808 PMID:23374165 PMID:24767253 PMID:25326637 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26443629 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29915382 PMID:29961513 PMID:30397314 PMID:30741402 PMID:30919163 PMID:31069529 PMID:31130284 PMID:31741823 PMID:32348865 PMID:33358637 PMID:36011304 PMID:36912596 More...
NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
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Cln8
CLN8, transmembrane ER and ERGIC protein
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
OMIM ClinVar
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:23374165 PMID:25326637 PMID:25741868 PMID:26075876 PMID:26467025 PMID:27884173 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29961513 PMID:31741823 PMID:32348865 PMID:36011304 PMID:36912596 More...
NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532 PMID:35460704
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased expression:cerebellum:
RGD
PMID:20883783
RGD:8693571
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Npc1
NPC intracellular cholesterol transporter 1
ISS
MouseDO
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Npc2
NPC intracellular cholesterol transporter 2
ISO ISS
MouseDO RGD
PMID:11567215
RGD:1601483
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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Smpd1
sphingomyelin phosphodiesterase 1
susceptibility
ISO ISS
Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12631268 PMID:15221801 PMID:18815062 PMID:25741868 PMID:27338287 PMID:27725636 PMID:28492532 PMID:31965297 PMID:32292456 PMID:12556236 More...
RGD:1601336
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
disease_progression
ISO
protein:decreased expression:cerebellum (mouse)
RGD
PMID:16277603
RGD:6482797
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:36007526 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15612058 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25301364 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32280632 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32778503 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:34273913 PMID:34554397 PMID:34867278 PMID:35342016 PMID:35747619 PMID:35883096 PMID:36195244 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
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Brip1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type B
ClinVar
PMID:25741868 PMID:28492532 PMID:29485843
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:36007526 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8225311 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:9536098 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12694237 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17576681 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23724191 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24643943 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26084044 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:34273913 PMID:34554397 PMID:34660203 PMID:34867278 PMID:35747619 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Abhd3
abhydrolase domain containing 3, phospholipase
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,723,203...1,778,488
Ensembl chr18:1,720,718...1,803,428
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:18591368
RGD:10047095
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Acyp1
acylphosphatase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
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Ankrd29
ankyrin repeat domain 29
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:3,436,301...3,494,292
Ensembl chr18:3,436,303...3,494,296
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Cables1
Cdk5 and Abl enzyme substrate 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:3,076,556...3,181,181
Ensembl chr18:3,075,524...3,181,181
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Esco1
establishment of sister chromatid cohesion N-acetyltransferase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,630,560...1,686,803
Ensembl chr18:1,631,954...1,686,942
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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Jak2
Janus kinase 2
treatment
ISO
RGD
PMID:21176403
RGD:10403054
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Lama3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Lipa
lipase A, lysosomal acid type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20557099
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Mib1
MIB E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689
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Mir1
microRNA 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,887,537...1,887,623
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Mir133a1
microRNA 133a-1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,885,082...1,885,168
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Npc1
NPC intracellular cholesterol transporter 1
ISO ISS
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form OMIM:257220 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 PMID:9211850 PMID:9245994 PMID:9536098 PMID:9634529 PMID:9744920 PMID:9802331 PMID:9927649 PMID:10419504 PMID:10480349 PMID:10521290 PMID:10521297 PMID:11182931 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11545687 PMID:11754101 PMID:12205649 PMID:12401890 PMID:12408188 PMID:12554680 PMID:12719428 PMID:12813037 PMID:12955717 PMID:12974729 PMID:14639697 PMID:14970192 PMID:15130691 PMID:15347664 PMID:15459971 PMID:15465421 PMID:15596783 PMID:15774455 PMID:15937921 PMID:16086131 PMID:16098014 PMID:16126423 PMID:16138904 PMID:16143556 PMID:16199547 PMID:16720792 PMID:16778374 PMID:16802107 PMID:17003072 PMID:17160617 PMID:17576681 PMID:17973331 PMID:17989072 PMID:18081003 PMID:18216017 PMID:19013089 PMID:19206179 PMID:19223215 PMID:19252935 PMID:19307542 PMID:19563754 PMID:19609713 PMID:19718781 PMID:19744920 PMID:19900398 PMID:20301473 PMID:20489167 PMID:20521171 PMID:20554533 PMID:20718790 PMID:20826119 PMID:20882348 PMID:20981092 PMID:21245028 PMID:21436030 PMID:21550990 PMID:22065762 PMID:22216111 PMID:22269206 PMID:22326530 PMID:22476655 PMID:22505584 PMID:22676771 PMID:22704015 PMID:22750297 PMID:22995991 PMID:23142039 PMID:23146215 PMID:23183285 PMID:23427322 PMID:23430855 PMID:23433426 PMID:23453666 PMID:23487299 PMID:23593294 PMID:23597521 PMID:23653225 PMID:23685560 PMID:23711246 PMID:23757202 PMID:23773996 PMID:23774949 PMID:23791518 PMID:23821321 PMID:24001525 PMID:24033266 PMID:24035292 PMID:24178705 PMID:24386122 PMID:24506780 PMID:24570279 PMID:24676439 PMID:24767253 PMID:24891511 PMID:24915861 PMID:24928400 PMID:25071864 PMID:25131710 PMID:25149939 PMID:25236789 PMID:25238906 PMID:25239094 PMID:25326635 PMID:25326637 PMID:25349751 PMID:25425405 PMID:25497598 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25764212 PMID:25873482 PMID:25888393 PMID:25989649 PMID:26019327 PMID:26108224 PMID:26206375 PMID:26255038 PMID:26284228 PMID:26338816 PMID:26467025 PMID:26666848 PMID:26771826 PMID:26788393 PMID:26790753 PMID:26830282 PMID:26910362 PMID:26937389 PMID:26939636 PMID:26981555 PMID:26984608 PMID:27016452 PMID:27139891 PMID:27193329 PMID:27234403 PMID:27238017 PMID:27250337 PMID:27256227 PMID:27288778 PMID:27366019 PMID:27378690 PMID:27528516 PMID:27549128 PMID:27550898 PMID:27581084 PMID:27599728 PMID:27706244 PMID:27792009 PMID:27900365 PMID:27923633 PMID:27928380 PMID:27959697 PMID:28105569 PMID:28130309 PMID:28155026 PMID:28167839 PMID:28193631 PMID:28222799 PMID:28328115 PMID:28387450 PMID:28413817 PMID:28472934 PMID:28480683 PMID:28492532 PMID:28666962 PMID:28703315 PMID:28710748 PMID:28776642 PMID:28784760 PMID:28802248 PMID:28808920 PMID:28865947 PMID:28883878 PMID:29100954 PMID:29165669 PMID:29197565 PMID:29429782 PMID:29453517 PMID:29476731 PMID:29631617 PMID:29971198 PMID:30019023 PMID:30119649 PMID:30153451 PMID:30202070 PMID:30285904 PMID:30487145 PMID:30552426 PMID:30556376 PMID:30609409 PMID:30633340 PMID:30665703 PMID:30737051 PMID:30820861 PMID:30923329 PMID:30985853 PMID:31130284 PMID:31139477 PMID:31296176 PMID:31497485 PMID:31543266 PMID:31589614 PMID:31635081 PMID:31639011 PMID:31699992 PMID:31743419 PMID:31754021 PMID:31980526 PMID:32060698 PMID:32138288 PMID:32144825 PMID:32222928 PMID:32248828 PMID:32289814 PMID:32482919 PMID:32488064 PMID:32544384 PMID:32709131 PMID:32732226 PMID:32745579 PMID:32860008 PMID:32921771 PMID:32931663 PMID:33021976 PMID:33027564 PMID:33099109 PMID:33138774 PMID:33139814 PMID:33163944 PMID:33258288 PMID:33624863 PMID:33947371 PMID:33990640 PMID:34023347 PMID:34296265 PMID:34303826 PMID:34489640 PMID:34712575 PMID:35086560 PMID:35861376 PMID:35892469 PMID:36007526 PMID:36325261 PMID:37032242 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Npc2
NPC intracellular cholesterol transporter 2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16757520 PMID:17470133 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26666848 PMID:26981555 PMID:27792009 PMID:28095804 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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Rbbp8
RB binding protein 8, endonuclease
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Riok3
RIO kinase 3
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:3,327,776...3,353,350
Ensembl chr18:3,327,776...3,353,343
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Rmc1
regulator of MON1-CCZ1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:3,359,848...3,379,764
Ensembl chr18:3,359,832...3,380,795
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:18815062 PMID:25741868 PMID:26499107 PMID:27243974 PMID:27338287 PMID:27725636 PMID:28492532 PMID:31965297 PMID:32292456 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Snrpd1
small nuclear ribonucleoprotein D1 polypeptide
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
RGD
PMID:21176403
RGD:10403054
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Syndig1l
synapse differentiation inducing 1-like
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
NCBI chr 6:104,318,096...104,344,989
Ensembl chr 6:104,323,424...104,344,891
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Tmem241
transmembrane protein 241
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:3,168,072...3,318,340
Ensembl chr18:3,168,067...3,318,293
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Acyp1
acylphosphatase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar
PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25558065 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar
PMID:25741868
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Npc2
NPC intracellular cholesterol transporter 2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16167124 PMID:16199547 PMID:16757520 PMID:17470133 PMID:17576681 PMID:18081003 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24082139 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26206375 PMID:26338816 PMID:26666848 PMID:26981555 PMID:27271431 PMID:27792009 PMID:28095804 PMID:28105569 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type D
ClinVar OMIM
PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 PMID:16126423 PMID:16778374 PMID:20301473 PMID:20718790 PMID:25741868 PMID:26666848 PMID:26984608 PMID:28222799 PMID:28492532 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral
ClinVar
PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 PMID:15241805 PMID:15877209 PMID:17011332 PMID:17360762 PMID:23412609 PMID:23420949 PMID:23430949 PMID:25741868 PMID:26981555 PMID:28492532 PMID:28703315 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:serum:
RGD
PMID:27639593
RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Creb1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:28770225
RGD:401940144
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased expression:serum:
RGD
PMID:23730648
RGD:14747013
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gpt
glutamic--pyruvic transaminase
ISO
protein:increased expression:liver,serum
RGD
PMID:18710424
RGD:14975250
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Gpt2
glutamic--pyruvic transaminase 2
ISO
protein:increased expression:liver,serum
RGD
PMID:18710424
RGD:14975250
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Htr2b
5-hydroxytryptamine receptor 2B
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
severity susceptibility
ISO
RGD
PMID:29861476 PMID:31064654
RGD:14985251 , RGD:14985252
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ngf
nerve growth factor
ISO
protein:increased expression:plasma
RGD
PMID:22434756
RGD:401976546
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
severity
ISO
cholic acid fed FXR-/- mouse
RGD
PMID:12971955
RGD:15045573
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN)
ClinVar
PMID:6489332 PMID:7082443 PMID:28492532
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Lcat
lecithin cholesterol acyltransferase
ISO ISS
OMIM:245900 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease
MouseDO CTD ClinVar OMIM RGD
PMID:1516702 PMID:1571050 PMID:1662503 PMID:1681161 PMID:1737840 PMID:1859405 PMID:2052566 PMID:2370048 PMID:6078131 PMID:6624548 PMID:7613477 PMID:8432868 PMID:8620346 PMID:8675648 PMID:8755645 PMID:9261271 PMID:9541390 PMID:9741700 PMID:15297675 PMID:15994445 PMID:17526537 PMID:21600519 PMID:21875686 PMID:21901787 PMID:22090275 PMID:22189200 PMID:22629316 PMID:22701329 PMID:22923420 PMID:23236364 PMID:24503134 PMID:24507774 PMID:24636183 PMID:24715031 PMID:25727495 PMID:25741868 PMID:26195816 PMID:28492532 PMID:28870971 PMID:28983876 PMID:29030428 PMID:29083407 PMID:30333156 PMID:31164121 PMID:32041611 PMID:33816482 PMID:16061733 More...
RGD:1581778
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
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Slc12a4
solute carrier family 12 member 4
ISO
ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency
ClinVar
PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 PMID:15994445 PMID:21875686 PMID:21901787 PMID:22189200 PMID:24636183 PMID:24715031 PMID:25727495 PMID:25741868 PMID:26195816 PMID:28492532 PMID:29030428 PMID:30333156 PMID:33816482 More...
NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331
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Pigf
phosphatidylinositol glycan anchor biosynthesis, class F
ISO
ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
ClinVar OMIM
PMID:33386993
NCBI chr 6:7,589,584...7,617,719
Ensembl chr 6:7,589,570...7,639,675
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Pnlip
pancreatic lipase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pancreatic lipase deficiency
OMIM CTD ClinVar
PMID:24262094 PMID:25741868 PMID:25862608 PMID:28492532
NCBI chr 1:257,774,012...257,811,656
Ensembl chr 1:257,798,581...257,811,654
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Lmnb2
lamin B2
ISO
ClinVar Annotator: match by term: APLD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Acquired partial lipodystrophy | ClinVar Annotator: match by term: Lipodystrophy, partial, acquired, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16826530 PMID:22768673 PMID:22995991 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 More...
NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
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Acox1
acyl-CoA oxidase 1
ISO ISS
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy OMIM:264470 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 PMID:16199547 PMID:16773508 PMID:17458872 PMID:17576681 PMID:18536048 PMID:20185470 PMID:24033266 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26965209 PMID:28492532 PMID:30561787 PMID:31130284 PMID:32169171 PMID:33510602 More...
NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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Ten1
TEN1 subunit of CST complex
ISO
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency
ClinVar
NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052
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Fcgr2b
Fc gamma receptor 2B
IEP
mRNA:increased expression:heart, blood
RGD
PMID:25580480
RGD:11344961
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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Tbl1xr1
TBL1X/Y related 1
ISO ISS
OMIM:602342 ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 PMID:18414213 PMID:19760657 PMID:21156281 PMID:21156282 PMID:23160955 PMID:25102098 PMID:25741868 PMID:26467025 PMID:26740553 PMID:26769062 PMID:27133561 PMID:27824329 PMID:28492532 PMID:28562391 PMID:28574232 PMID:28588275 PMID:29777588 PMID:30365874 PMID:30577886 PMID:31394400 PMID:31618753 PMID:32369273 PMID:32619424 PMID:32932517 PMID:33527360 PMID:35165208 More...
NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
OMIM ClinVar
PMID:6681564 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 PMID:19019460 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:24119542 PMID:24139279 PMID:24685331 PMID:24899047 PMID:25186855 PMID:25615530 PMID:25741868 PMID:25886450 PMID:27067662 PMID:27084067 PMID:27589997 PMID:27995897 PMID:28376694 PMID:28492532 PMID:28620717 PMID:28768830 PMID:29142083 PMID:29723869 PMID:31217084 PMID:32319261 PMID:32638105 More...
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Abca1
ATP binding cassette subfamily A member 1
ISO
DNA:mutations: : ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:7945562 PMID:10431236 PMID:10431237 PMID:10706591 PMID:10938021 PMID:11238261 PMID:11257261 PMID:11476965 PMID:11940086 PMID:12009425 PMID:12054535 PMID:12111381 PMID:12204794 PMID:12624133 PMID:12763760 PMID:15019541 PMID:15262183 PMID:15297675 PMID:15486467 PMID:15520867 PMID:15790791 PMID:15935359 PMID:16226177 PMID:16343503 PMID:16372134 PMID:16429166 PMID:16704350 PMID:16806540 PMID:16855366 PMID:16873719 PMID:17113061 PMID:17303779 PMID:17383594 PMID:18199144 PMID:18354102 PMID:18523221 PMID:18776170 PMID:19133158 PMID:19202195 PMID:19596329 PMID:19743957 PMID:20011639 PMID:20093111 PMID:20418488 PMID:20427018 PMID:20533173 PMID:20595220 PMID:20656214 PMID:20800056 PMID:20849526 PMID:20880529 PMID:20981092 PMID:21315358 PMID:21575609 PMID:21860089 PMID:21875686 PMID:22923419 PMID:22923420 PMID:22959828 PMID:22995991 PMID:23087442 PMID:23136402 PMID:23139370 PMID:23152888 PMID:23376243 PMID:23559627 PMID:23685560 PMID:23770607 PMID:24036952 PMID:24456889 PMID:24497850 PMID:24503134 PMID:24894453 PMID:25215231 PMID:25741868 PMID:26073400 PMID:26079414 PMID:26255038 PMID:26350511 PMID:27745835 PMID:27884173 PMID:28492532 PMID:28634189 PMID:28870971 PMID:29083407 PMID:29224928 PMID:29535370 PMID:30333156 PMID:30795984 PMID:30945099 PMID:31973102 PMID:32041611 PMID:34906502 PMID:35460704 PMID:36053979 PMID:10431236 More...
RGD:1298571
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
ClinVar
PMID:1898657 PMID:1901417 PMID:8240372 PMID:17303779 PMID:20884842 PMID:21443680 PMID:21820994 PMID:23209431 PMID:23770607 PMID:23806608 PMID:24081495 PMID:25034063 PMID:25741868 PMID:26530418 PMID:26562506 PMID:26605794 PMID:27135400 PMID:27785680 PMID:28492532 PMID:28870971 PMID:29083407 PMID:29353225 PMID:30184436 PMID:30333156 PMID:32041611 PMID:32666307 More...
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate
OMIM ClinVar
PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 PMID:2512329 PMID:3141894 PMID:3142462 PMID:4304452 PMID:6800349 PMID:7981179 PMID:9514407 PMID:9931341 PMID:23209431 PMID:25741868 PMID:26530418 PMID:28492532 PMID:29083407 PMID:29353225 More...
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa4
apolipoprotein A4
ISO
ClinVar Annotator: match by term: Apolipoprotein A-I deficiency
ClinVar
PMID:2506176 PMID:6800349
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apoc3
apolipoprotein C3
ISO
ClinVar Annotator: match by term: Apolipoprotein A-I deficiency
ClinVar
PMID:2506176 PMID:6800349
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Prim1
DNA primase subunit 1
ISO
ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
ClinVar OMIM
PMID:33060134
NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11479539 PMID:16735770 PMID:18093937 PMID:19226263 PMID:23564749 PMID:24024128 PMID:25741868 PMID:27452399 PMID:28492532 More...
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Abhd16a
abhydrolase domain containing 16A, phospholipase
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
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Ager
advanced glycosylation end product-specific receptor
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agpat1
1-acylglycerol-3-phosphate O-acyltransferase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278
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Aif1
allograft inflammatory factor 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Anks1a
ankyrin repeat and sterile alpha motif domain containing 1A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,963,658...6,117,139
Ensembl chr20:5,963,678...6,117,148
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Apom
apolipoprotein M
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
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Armc12
armadillo repeat containing 12
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,587,859...6,598,355
Ensembl chr20:6,587,859...6,598,352
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Atf6b
activating transcription factor 6 beta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,090,921...4,098,920
Ensembl chr20:4,090,921...4,098,894
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Atp6v1g2
ATPase H+ transporting V1 subunit G2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,587,681...3,591,309
Ensembl chr20:3,587,686...3,590,481
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B3galt4
Beta-1,3-galactosyltransferase 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,936,089...4,937,664
Ensembl chr20:4,931,768...4,938,315
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Bag6
BAG cochaperone 6
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
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Bak1
BCL2-antagonist/killer 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
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Bltp3a
bridge-like lipid transfer protein family member 3A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,910,261...5,954,641
Ensembl chr20:5,910,260...5,952,404
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Bnip5
BCL2 interacting protein 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,957,736...6,975,062
Ensembl chr20:6,956,201...6,975,091
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Brd2
bromodomain containing 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Brpf3
bromodomain and PHD finger containing, 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,864,684...6,902,760
Ensembl chr20:6,865,985...6,902,690
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Btnl2
butyrophilin-like 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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C2
complement C2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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C20h6orf15
similar to human chromosome 6 open reading frame 15
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,172,330...3,173,886
Ensembl chr20:3,172,330...3,173,886
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C20h6orf89
similar to human chromosome 6 open reading frame 89
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,322,483...7,362,054
Ensembl chr20:7,322,442...7,357,612
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C4a
complement C4A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
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C4b
complement C4B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
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Cchcr1
coiled-coil alpha-helical rod protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdsn
corneodesmosin
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250
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Cfb
complement factor B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Clic1
chloride intracellular channel 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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Clps
colipase
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,620,529...6,622,709
Ensembl chr20:6,620,529...6,622,689
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Clpsl2
colipase-like 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,608,128...6,610,951
Ensembl chr20:6,608,128...6,610,951
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Cpne5
copine 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,206,742...7,289,309
Ensembl chr20:7,206,742...7,288,883
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Csnk2b
casein kinase 2 beta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Cuta
cutA divalent cation tolerance homolog
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,022,956...5,024,580
Ensembl chr20:5,022,956...5,024,552
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Daxx
death-domain associated protein
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Ddah2
DDAH family member 2, ADMA-independent
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,761,460...3,764,718
Ensembl chr20:3,761,465...3,764,511
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Ddr1
discoidin domain receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Ddx39b
DExD-box helicase 39B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996
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Def6
DEF6 guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,268,579...6,290,030
Ensembl chr20:6,268,601...6,289,961
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Dxo
decapping exoribonuclease
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,993,322...3,995,484
Ensembl chr20:3,993,327...3,995,494
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Egfl8
EGF-like-domain, multiple 8
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,132,930...4,136,024
Ensembl chr20:4,133,629...4,136,018
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Fance
FA complementation group E
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
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Fkbp5
FKBP prolyl isomerase 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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Fkbpl
FKBP prolyl isomerase like
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,099,845...4,101,315
Ensembl chr20:4,099,806...4,101,368
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Flot1
flotillin 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978
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G4
G4 protein
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,693,691...3,696,194
Ensembl chr20:3,693,649...3,696,088
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Gpank1
G patch domain and ankyrin repeats 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,697,641...3,700,814
Ensembl chr20:3,697,641...3,700,858
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Gpsm3
G-protein signaling modulator 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,157,123...4,158,984
Ensembl chr20:4,157,123...4,159,035
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Grm4
glutamate metabotropic receptor 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,481,124...5,572,821
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Gtf2h4
general transcription factor 2H subunit 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,071,328...3,076,990
Ensembl chr20:3,071,328...3,076,984
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Hmga1
high mobility group AT-hook 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
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Hsd17b8
hydroxysteroid (17-beta) dehydrogenase 8
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,826,725...4,828,742
Ensembl chr20:4,822,026...4,828,742
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Ier3
immediate early response 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583
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Ilrun
inflammation and lipid regulator with UBA-like and NBR1-like domains
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,809,931...5,876,197
Ensembl chr20:5,809,936...5,876,012
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Ip6k3
inositol hexakisphosphate kinase 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,223,863...5,245,443
Ensembl chr20:5,224,120...5,245,428
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Itpr3
inositol 1,4,5-trisphosphate receptor, type 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
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Kctd20
potassium channel tetramerization domain containing 20
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,015,828...7,032,766
Ensembl chr20:7,015,833...7,032,761
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Kifc1
kinesin family member C1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,998,832...5,017,107
Ensembl chr20:4,999,047...5,017,105
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Lemd2
LEM domain nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
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Lhfpl5
LHFPL tetraspan subfamily member 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532
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Lsm2
LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,843,467...3,847,217
Ensembl chr20:3,843,466...3,847,266
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Lst1
leukocyte specific transcript 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,634,680...3,639,731
Ensembl chr20:3,634,749...3,637,997
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Lta
lymphotoxin alpha
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Ltb
lymphotoxin beta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
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Ly6g5b
lymphocyte antigen 6 family member G5B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,705,464...3,707,830
Ensembl chr20:3,706,124...3,707,133
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Ly6g5c
lymphocyte antigen 6 family member G5C
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,709,426...3,713,940
Ensembl chr20:3,709,529...3,713,608
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Ly6g6c
lymphocyte antigen 6 family member G6C
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,753,632...3,757,205
Ensembl chr20:3,753,632...3,758,867
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Ly6g6d
lymphocyte antigen 6 family member G6D
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,741,973...3,752,378
Ensembl chr20:3,737,459...3,752,248
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Ly6g6f
lymphocyte antigen 6 family member G6F
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,737,459...3,742,327
Ensembl chr20:3,737,459...3,752,248
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Mapk13
mitogen activated protein kinase 13
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,835,277...6,845,500
Ensembl chr20:6,835,320...6,844,222
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Mapk14
mitogen activated protein kinase 14
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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Micb
MHC class I polypeptide-related sequence B
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr 1:78,495,779...78,513,030
Ensembl chr 1:78,495,779...78,512,827
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Mill1
MHC I like leukocyte 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr 1:78,372,798...78,398,932
Ensembl chr 1:78,372,802...78,398,930
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Mir219a1
microRNA 219a-1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796
G
Mln
motilin
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,304,249...5,308,948
Ensembl chr20:5,304,249...5,308,948
G
Mpig6b
megakaryocyte and platelet inhibitory receptor G6b
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
G
Msh5
mutS homolog 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336
G
Mtch1
mitochondrial carrier 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,389,942...7,413,426
Ensembl chr20:7,389,949...7,413,426
G
Mucl3
mucin like 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569
G
Ncr3
natural cytotoxicity triggering receptor 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
G
Nelfe
negative elongation factor complex member E
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355
G
Neu1
neuraminidase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
G
Nfkbil1
NFKB inhibitor like 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,589,974...3,608,348
Ensembl chr20:3,590,642...3,605,616
G
Notch4
notch receptor 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
G
Nudt3
nudix hydrolase 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,634,345...5,686,950
Ensembl chr20:5,634,349...5,686,874
G
Pacsin1
protein kinase C and casein kinase substrate in neurons 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,718,134...5,768,064
Ensembl chr20:5,719,857...5,765,313
G
Pbx2
PBX homeobox 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,151,500...4,156,425
Ensembl chr20:4,151,500...4,156,425
G
Pfdn6
prefoldin subunit 6
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,945,959...4,947,433
Ensembl chr20:4,945,959...4,947,433
G
Phf1
PHD finger protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,017,765...5,022,872
Ensembl chr20:5,017,893...5,022,871
G
Pi16
peptidase inhibitor 16
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,376,073...7,385,386
Ensembl chr20:7,376,126...7,385,383
G
Pnpla1
patatin-like phospholipase domain containing 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
G
Pou5f1
POU class 5 homeobox 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
G
Ppard
peroxisome proliferator-activated receptor delta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
G
Ppil1
peptidylprolyl isomerase like 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354
G
Ppt2
palmitoyl-protein thioesterase 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,112,520...4,132,774
Ensembl chr20:4,122,463...4,132,774
G
Prrc2a
proline-rich coiled-coil 2A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130
G
Prrt1
proline-rich transmembrane protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,117,957...4,121,643
Ensembl chr20:4,117,957...4,121,600
G
Psma3
proteasome 20S subunit alpha 3
ISO
ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
ClinVar
PMID:21953331 PMID:26524591
NCBI chr 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965
G
Psmb4
proteasome 20S subunit beta 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:26524591
NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
G
Psmb8
proteasome 20S subunit beta 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
OMIM CTD ClinVar
PMID:8495043 PMID:16199547 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 PMID:21953331 PMID:23768303 PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 PMID:28895430 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
G
Psmb9
proteasome 20S subunit beta 9
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
G
Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599
G
Pxt1
peroxisomal testis enriched protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,002,270...7,005,296
Ensembl chr20:7,002,271...7,006,780
G
Rab44
RAB44, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,164,576...7,198,473
Ensembl chr20:7,164,720...7,198,468
G
Ralgdsl2
ral guanine nucleotide dissociation stimulator like 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,948,495...4,956,774
Ensembl chr20:4,948,497...4,969,911
G
Ring1
ring finger protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,830,120...4,833,623
Ensembl chr20:4,830,053...4,833,620
G
Rnf5
ring finger protein 5
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,145,539...4,147,985
Ensembl chr20:4,145,507...4,147,985
G
Rpl10a
ribosomal protein L10A
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,388,800...6,391,358
Ensembl chr20:6,385,823...6,391,357
G
Rps10
ribosomal protein S10
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 Ensembl chr 6:5,694,313...5,699,044
G
Rps18
ribosomal protein S18
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,931,427...4,935,538
Ensembl chr10:101,204,500...101,205,146 Ensembl chr20:101,204,500...101,205,146
G
RT1-Ba
RT1 class II, locus Ba
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Da
RT1 class II, locus Da
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
G
RT1-Db1
RT1 class II, locus Db1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
RT1-DMa
RT1 class II, locus DMa
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
G
RT1-DMb
RT1 class II, locus DMb
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340
G
RT1-DOa
RT1 class II, locus DOa
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,753,587...4,756,590
Ensembl chr20:4,753,598...4,756,577
G
RT1-DOb
RT1 class II, locus DOb
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,619,418...4,625,627
Ensembl chr20:4,619,816...4,625,667
G
RT1-Ha
RT1 class II, locus Ha
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
Rxrb
retinoid X receptor beta
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,816,813...4,823,267
Ensembl chr20:4,816,815...4,828,773
G
Sapcd1
suppressor APC domain containing 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,793,980...3,795,767
Ensembl chr20:3,793,967...3,795,790
G
Scube3
signal peptide, CUB domain and EGF like domain containing 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584
G
Sfta2
surfactant associated 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,093,569...3,094,299
Ensembl chr20:3,093,565...3,094,299
G
Skic2
SKI2 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
G
Slc26a8
solute carrier family 26 member 8
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478
G
Slc39a7
solute carrier family 39 member 7
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537
G
Slc44a4
solute carrier family 44, member 4
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,903,099...3,919,215
Ensembl chr20:3,903,099...3,919,215
G
Smim29
small integral membrane protein 29
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,618,845...5,620,856
Ensembl chr20:5,618,845...5,620,813
G
Snrpc
small nuclear ribonucleoprotein polypeptide C
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638
G
Spdef
SAM pointed domain containing ets transcription factor
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,771,440...5,785,893
Ensembl chr20:5,771,441...5,785,893
G
Srpk1
SRSF protein kinase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,645,809...6,682,448
Ensembl chr20:6,645,809...6,682,134
G
Srsf3
serine and arginine rich splicing factor 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,091,928...7,101,860
Ensembl chr20:7,091,910...7,101,078
G
Stk19
serine/threonine kinase 19
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116
G
Stk38
serine/threonine kinase 38
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:7,034,245...7,067,803
Ensembl chr20:7,034,242...7,068,198
G
Syngap1
synaptic Ras GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
G
Taf11
TATA-box binding protein associated factor 11
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,955,774...5,963,593
Ensembl chr20:5,955,777...5,961,905
G
Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
G
Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Tapbp
TAP binding protein
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181
G
Tcf19
transcription factor 19
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,218,756...3,222,861
Ensembl chr20:3,218,693...3,223,271
G
Tcp11
t-complex 11
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,126,267...6,138,408
Ensembl chr20:6,126,269...6,136,055
G
Tead3
TEA domain transcription factor 3
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,392,053...6,411,446
Ensembl chr20:6,392,053...6,411,446
G
Tnf
tumor necrosis factor
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
G
Tsbp1
testis expressed basic protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,410,002...4,467,284
Ensembl chr20:4,410,004...4,457,053
G
Tulp1
TUB like protein 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073
G
Uqcc2
ubiquinol-cytochrome c reductase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,202,837...5,214,541
Ensembl chr20:5,202,837...5,214,164
G
Vars1
valyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298
G
Vars2
valyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994
G
Vps52
VPS52 subunit of GARP complex
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,920,715...4,931,685
Ensembl chr20:4,860,843...4,931,665
G
Vwa7
von Willebrand factor A domain containing 7
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,794,991...3,805,646
Ensembl chr20:3,794,991...3,805,525
G
Wdr46
WD repeat domain 46
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,937,845...4,945,796
Ensembl chr20:4,937,847...4,946,535
G
Zbtb12
zinc finger and BTB domain containing 12
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:3,937,668...3,940,514
G
Zbtb22
zinc finger and BTB domain containing 22
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:4,966,331...4,969,853
Ensembl chr20:4,966,271...4,969,498
G
Zbtb9
zinc finger and BTB domain containing 9
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:5,057,433...5,060,459
Ensembl chr20:5,057,434...5,062,819
G
Zfp523
zinc finger protein 523
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar
PMID:28492532
NCBI chr20:6,234,884...6,266,512
Ensembl chr20:6,243,582...6,266,511
G
Psmb8
proteasome 20S subunit beta 8
ISO
ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome
ClinVar
PMID:28492532
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
G
Pomp
proteasome maturation protein
ISO
OMIM
NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715
G
Psmb4
proteasome 20S subunit beta 4
ISO
OMIM
NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
G
Psmb9
proteasome 20S subunit beta 9
ISO
OMIM
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
G
Psmg2
proteasome assembly chaperone 2
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4
OMIM ClinVar
PMID:16199547 PMID:25741868 PMID:28492532 PMID:30664889
NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
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Psmb10
proteasome 20S subunit beta 10
ISO
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5
OMIM ClinVar
PMID:25741868 PMID:31783057
NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency
ClinVar
PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 PMID:28670130 More...
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Srd5a2
steroid 5 alpha-reductase 2
ISO
ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:431680 PMID:835597 PMID:1406794 PMID:1522235 PMID:1944596 PMID:2154055 PMID:2665940 PMID:7554313 PMID:7608269 PMID:8110760 PMID:8262007 PMID:8626825 PMID:8706317 PMID:8723114 PMID:8768837 PMID:8784107 PMID:9066886 PMID:9135696 PMID:9208814 PMID:9467575 PMID:9536098 PMID:9745434 PMID:9843052 PMID:10501358 PMID:10718838 PMID:10898110 PMID:10999800 PMID:11869378 PMID:12576851 PMID:12699446 PMID:12843198 PMID:14560315 PMID:14594182 PMID:15064320 PMID:15266301 PMID:15528927 PMID:15770495 PMID:16181229 PMID:16199547 PMID:17576681 PMID:17609295 PMID:18097518 PMID:18314109 PMID:18350250 PMID:18384427 PMID:18391525 PMID:18469342 PMID:18717241 PMID:19342739 PMID:19492581 PMID:20019388 PMID:20190539 PMID:20493473 PMID:20583543 PMID:20736251 PMID:20850730 PMID:21147889 PMID:21402750 PMID:21540559 PMID:21631525 PMID:22272144 PMID:22362597 PMID:22435390 PMID:22453073 PMID:22876553 PMID:23329752 PMID:23633205 PMID:24412121 PMID:24665940 PMID:24737579 PMID:25248670 PMID:25266188 PMID:25605705 PMID:25741868 PMID:25899528 PMID:26446026 PMID:26980298 PMID:27070133 PMID:27854360 PMID:27899157 PMID:28110336 PMID:28492532 PMID:28544750 PMID:28663096 PMID:28938747 PMID:29798939 PMID:30132287 PMID:30668521 PMID:30968598 PMID:31031332 PMID:31130284 PMID:31186340 PMID:31277073 PMID:32346305 PMID:32371413 PMID:32596280 PMID:32713132 PMID:32894851 PMID:33516834 PMID:33742552 PMID:33775494 PMID:35331321 PMID:35386187 More...
NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
ClinVar
PMID:18384427 PMID:28492532
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Pex7
peroxisomal biogenesis factor 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Phytanic acid storage disease
CTD ClinVar
PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:16199547 PMID:17576681 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:32483926 More...
NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO ISS
ClinVar Annotator: match by term: PHYH-related condition | ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome OMIM:266500 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1155634 PMID:9326939 PMID:9326940 PMID:9536098 PMID:9657395 PMID:10767344 PMID:11555634 PMID:11948235 PMID:12522768 PMID:14974078 PMID:16186124 PMID:16199547 PMID:17576681 PMID:17905308 PMID:18612766 PMID:20818383 PMID:24033266 PMID:25472526 PMID:25525159 PMID:25604618 PMID:25741868 PMID:27229527 PMID:28041643 PMID:28470644 PMID:28492532 PMID:28681609 PMID:31240149 PMID:31456290 PMID:32581362 PMID:34906470 PMID:10709665 PMID:19004801 More...
RGD:13831337 , RGD:13831313
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Stx3
syntaxin 3
ISO
ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease
OMIM ClinVar
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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Alb
albumin
treatment
IEP
RGD
PMID:25162205
RGD:14694843
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Txnip
thioredoxin interacting protein
ISS
MouseDO
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Far1
fatty acyl CoA reductase 1
ISO
ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder
OMIM ClinVar
PMID:25439727 PMID:25741868 PMID:28492532
NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730
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Ankdd1b
ankyrin repeat and death domain containing 1B
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,750,301...27,814,291
Ensembl chr 2:27,750,987...27,813,734
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Ankrd31
ankyrin repeat domain 31
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:15155903
RGD:7241825
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Cert1
ceramide transporter 1
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074
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Fam169a
family with sequence similarity 169, member A
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:28,384,162...28,441,361
Ensembl chr 2:28,383,784...28,438,910
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Gcnt4
glucosaminyl (N-acetyl) transferase 4
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:28,253,325...28,283,082
Ensembl chr 2:28,252,860...28,283,082
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Gfm2
GTP dependent ribosome recycling factor mitochondrial 2
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:7550345 PMID:18758829 PMID:28492532
NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
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Hexb
hexosaminidase subunit beta
ISO ISS
ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease OMIM:268800 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:10724 PMID:571983 PMID:868875 PMID:1386607 PMID:1390948 PMID:1487253 PMID:1531140 PMID:1532910 PMID:1720305 PMID:1723749 PMID:1975561 PMID:2139865 PMID:2147027 PMID:2147031 PMID:2170400 PMID:2522450 PMID:2921040 PMID:2948136 PMID:2973515 PMID:3014997 PMID:3156493 PMID:7550345 PMID:7557963 PMID:7633435 PMID:8045559 PMID:8076944 PMID:8106452 PMID:8162015 PMID:8357844 PMID:8593535 PMID:8950198 PMID:9401004 PMID:9475608 PMID:9536098 PMID:9562328 PMID:9694901 PMID:10982028 PMID:11329289 PMID:11897243 PMID:12027830 PMID:12166653 PMID:12706724 PMID:14724290 PMID:16169011 PMID:16199547 PMID:17015493 PMID:17237499 PMID:17576681 PMID:18484607 PMID:18758829 PMID:19595619 PMID:19763152 PMID:19823769 PMID:19881469 PMID:19898952 PMID:20301515 PMID:20307669 PMID:20798201 PMID:20926324 PMID:21150067 PMID:21483992 PMID:21567908 PMID:22191674 PMID:22406018 PMID:22789865 PMID:22848519 PMID:23010210 PMID:23046579 PMID:23113155 PMID:23127958 PMID:23158871 PMID:23418865 PMID:23759947 PMID:24022928 PMID:24033266 PMID:24082139 PMID:24263030 PMID:24356898 PMID:24461908 PMID:24503148 PMID:24613245 PMID:24915922 PMID:25525159 PMID:25640679 PMID:25736553 PMID:25741868 PMID:26582265 PMID:27021291 PMID:27142713 PMID:27435318 PMID:27629047 PMID:27682710 PMID:27697305 PMID:28281504 PMID:28476546 PMID:28492532 PMID:28895707 PMID:29448188 PMID:29451896 PMID:30065954 PMID:30075786 PMID:30548430 PMID:31319225 PMID:31367523 PMID:31589614 PMID:31852446 PMID:31974414 PMID:31995250 PMID:32036093 PMID:32860008 PMID:33176815 PMID:33407268 PMID:33673364 PMID:33742171 PMID:33824075 PMID:34210542 PMID:34226107 PMID:34856081 PMID:35711818 PMID:36407556 PMID:36628841 PMID:2147027 More...
RGD:1599422
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Nsa2
NSA2 ribosome biogenesis factor
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:28,443,142...28,449,393
Ensembl chr 2:28,441,269...28,449,388
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Poc5
POC5 centriolar protein
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805
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Polk
DNA polymerase kappa
ISO
ClinVar Annotator: match by term: Sandhoff disease
ClinVar
PMID:28492532
NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313
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Hexb
hexosaminidase subunit beta
ISO
ClinVar Annotator: match by term: Sandhoff disease, adult type
ClinVar
PMID:571983 PMID:1386607 PMID:1531140 PMID:2147027 PMID:2948136 PMID:7557963 PMID:8357844 PMID:8950198 PMID:9562328 PMID:12027830 PMID:12166653 PMID:17237499 PMID:17251047 PMID:20798201 PMID:20926324 PMID:21150067 PMID:22789865 PMID:23010210 PMID:23127958 PMID:23759947 PMID:24263030 PMID:25736553 PMID:25741868 PMID:28492532 PMID:29448188 More...
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Enc1
ectodermal-neural cortex 1
ISO
ClinVar Annotator: match by term: Sandhoff disease, infantile type
ClinVar
PMID:7633435
NCBI chr 2:28,550,670...28,562,591
Ensembl chr 2:28,550,464...28,562,713
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Hexb
hexosaminidase subunit beta
ISO
ClinVar Annotator: match by term: Sandhoff disease, infantile type
ClinVar
PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387 PMID:10982028 PMID:18484607 PMID:18758829 PMID:19823769 PMID:19881469 PMID:20301515 PMID:21483992 PMID:23010210 PMID:23046579 PMID:24613245 PMID:25741868 PMID:26582265 PMID:28492532 PMID:29448188 More...
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Hexb
hexosaminidase subunit beta
ISO
ClinVar Annotator: match by term: Sandhoff disease, juvenile type
ClinVar
PMID:10724 PMID:1386607 PMID:1531140 PMID:1720305 PMID:2147027 PMID:2147031 PMID:2170400 PMID:2522450 PMID:3014997 PMID:7557963 PMID:8106452 PMID:17015493 PMID:17237499 PMID:20798201 PMID:21150067 PMID:22789865 PMID:23127958 PMID:24263030 PMID:24915922 PMID:25736553 PMID:25741868 PMID:27021291 PMID:27142713 PMID:28492532 PMID:29448188 More...
NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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Apoe
apolipoprotein E
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis
CTD OMIM ClinVar
PMID:8488843 PMID:9279208 PMID:9360638 PMID:11095479 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Acads
acyl-CoA dehydrogenase short chain
ISO ISS
ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase OMIM:201470 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1692038 PMID:2808706 PMID:9499414 PMID:9536098 PMID:9582344 PMID:11134486 PMID:12736383 PMID:12872838 PMID:14506246 PMID:14568186 PMID:14595061 PMID:16199547 PMID:16546179 PMID:16906473 PMID:16926354 PMID:17576681 PMID:18054510 PMID:18523805 PMID:18676165 PMID:18836889 PMID:18951053 PMID:19800078 PMID:20376488 PMID:20389114 PMID:21170680 PMID:21325261 PMID:21483766 PMID:21500142 PMID:22241096 PMID:22424739 PMID:23155713 PMID:23798014 PMID:24033266 PMID:24485985 PMID:25741868 PMID:26055667 PMID:26274329 PMID:27051597 PMID:27466294 PMID:27938594 PMID:28018444 PMID:28263315 PMID:28374236 PMID:28454995 PMID:28492532 PMID:28516284 PMID:28532786 PMID:29519241 PMID:29678161 PMID:30035407 PMID:30612563 PMID:30626930 PMID:31813752 PMID:31847883 PMID:31980526 PMID:32447334 PMID:32710939 PMID:32778825 PMID:32793418 PMID:32802992 PMID:33391346 PMID:33895855 PMID:34394177 PMID:34869113 PMID:35095998 PMID:35193651 PMID:36207829 PMID:185223805 More...
NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
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Echdc1
ethylmalonyl-CoA decarboxylase 1
ISO
ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase
ClinVar
PMID:25741868
NCBI chr 1:28,476,354...28,507,173
Ensembl chr 1:28,476,200...28,507,319
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Dnajc21
DnaJ heat shock protein family (Hsp40) member C21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29146883 More...
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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Sbds
Sbds, ribosome maturation factor
ISO ISS
DNA:mutations:multiple ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 OMIM:260400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22491737 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26479198 PMID:26822237 PMID:28509441 PMID:31321910 PMID:31589614 PMID:32150944 PMID:32581362 PMID:34308104 PMID:12496757 More...
RGD:1599541
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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Serpini2
serpin family I member 2
ISS
OMIM:260400
MouseDO
NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280
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Srp19
signal recognition particle 19
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar
NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017
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Srp54a
signal recognition particle 54A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
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Srpra
SRP receptor subunit alpha
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar
NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
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Fitm2
fat storage-inducing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Siddiqi syndrome
OMIM ClinVar
PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795
NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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Abcg5
ATP binding cassette subfamily G member 5
susceptibility
IAGP ISO
DNA:missense mutation: p.G583C , 1757G>T (rat) ClinVar Annotator: match by term: Plant sterol storage disease | ClinVar Annotator: match by term: Sitosterolemia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 PMID:11855938 PMID:11893785 PMID:11907139 PMID:15054092 PMID:15375183 PMID:16029460 PMID:16199547 PMID:17228349 PMID:17576681 PMID:17632509 PMID:17976197 PMID:19111681 PMID:19667188 PMID:20466091 PMID:20521169 PMID:20543520 PMID:20719861 PMID:20849526 PMID:21039838 PMID:21274884 PMID:21576934 PMID:21729603 PMID:22898925 PMID:24033266 PMID:24166850 PMID:24423340 PMID:24503134 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26813946 PMID:26892138 PMID:27170062 PMID:27291889 PMID:27884173 PMID:28203044 PMID:28492532 PMID:28521186 PMID:28696550 PMID:28748566 PMID:28771437 PMID:29055934 PMID:29066094 PMID:29304564 PMID:29353225 PMID:29886606 PMID:30007774 PMID:30270055 PMID:30349881 PMID:30528907 PMID:30697800 PMID:30782472 PMID:30833958 PMID:30985648 PMID:31060161 PMID:31064749 PMID:31392106 PMID:31589614 PMID:31795497 PMID:31901240 PMID:32041611 PMID:32088153 PMID:32166861 PMID:32275988 PMID:32702746 PMID:32862661 PMID:33217533 PMID:33269076 PMID:33642439 PMID:34268478 PMID:34304999 PMID:34505049 PMID:34615826 PMID:34650182 PMID:34969652 PMID:34998859 PMID:35042526 PMID:35557526 PMID:35741760 PMID:36229885 PMID:16026620 PMID:11452359 More...
RGD:1598659 , RGD:631968
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8
ATP binding cassette subfamily G member 8
ISO ISS
ClinVar Annotator: match by term: Sitosterolemia OMIM:210250 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:3706300 PMID:4360855 PMID:6110091 PMID:11099417 PMID:11264985 PMID:11452359 PMID:11893785 PMID:12124998 PMID:15054092 PMID:15375183 PMID:15996216 PMID:16029460 PMID:16199547 PMID:17632509 PMID:20854103 PMID:21039838 PMID:21274884 PMID:22898925 PMID:23241408 PMID:23685560 PMID:24033266 PMID:24657386 PMID:25073796 PMID:25741868 PMID:28492532 PMID:28521186 PMID:28739549 PMID:29590070 PMID:30545335 PMID:32041611 PMID:32088153 PMID:32166861 PMID:32702746 PMID:33228147 PMID:33269076 PMID:34650182 PMID:34969652 PMID:11099417 PMID:11452359 More...
RGD:1300331 , RGD:631968
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Dync2li1
dynein cytoplasmic 2 light intermediate chain 1
ISO
ClinVar Annotator: match by term: Plant sterol storage disease | ClinVar Annotator: match by term: Sitosterolemia
ClinVar
PMID:9536098 PMID:11138003 PMID:11452359 PMID:11668628 PMID:11855938 PMID:11907139 PMID:15054092 PMID:15375183 PMID:16029460 PMID:16199547 PMID:17228349 PMID:17576681 PMID:17976197 PMID:19111681 PMID:19667188 PMID:20521169 PMID:20543520 PMID:20719861 PMID:21576934 PMID:21729603 PMID:24033266 PMID:24166850 PMID:24423340 PMID:24503134 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26813946 PMID:26892138 PMID:27170062 PMID:27884173 PMID:28203044 PMID:28492532 PMID:28521186 PMID:28696550 PMID:28748566 PMID:28771437 PMID:29055934 PMID:29066094 PMID:29304564 PMID:29353225 PMID:29886606 PMID:30007774 PMID:30528907 PMID:30697800 PMID:30782472 PMID:30833958 PMID:30985648 PMID:31060161 PMID:31064749 PMID:31392106 PMID:31589614 PMID:31795497 PMID:31901240 PMID:32041611 PMID:32088153 PMID:32166861 PMID:32275988 PMID:32862661 PMID:33217533 PMID:33269076 PMID:33642439 PMID:34268478 PMID:34304999 PMID:34505049 PMID:34615826 PMID:34969652 PMID:34998859 PMID:35741760 PMID:36229885 More...
NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
G
Lrpprc
leucine-rich pentatricopeptide repeat containing
ISO
ClinVar Annotator: match by term: Sitosterolemia
ClinVar
PMID:28492532
NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293
G
Abcg5
ATP binding cassette subfamily G member 5
ISO
ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1
ClinVar
PMID:11138003 PMID:11668628 PMID:11893785 PMID:16029460 PMID:17228349 PMID:17632509 PMID:17976197 PMID:19111681 PMID:20521169 PMID:20719861 PMID:20849526 PMID:21039838 PMID:21274884 PMID:21729603 PMID:22898925 PMID:24033266 PMID:24166850 PMID:24423340 PMID:24503134 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26813946 PMID:27291889 PMID:27884173 PMID:28492532 PMID:28521186 PMID:28696550 PMID:28748566 PMID:29055934 PMID:29066094 PMID:29304564 PMID:29353225 PMID:29886606 PMID:30270055 PMID:30349881 PMID:30528907 PMID:30697800 PMID:30833958 PMID:31060161 PMID:31064749 PMID:31392106 PMID:31589614 PMID:32041611 PMID:32088153 PMID:32702746 PMID:32862661 PMID:33217533 PMID:33269076 PMID:34268478 PMID:34304999 PMID:34969652 PMID:34998859 PMID:35741760 PMID:36229885 More...
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
G
Abcg8
ATP binding cassette subfamily G member 8
ISO
ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1
OMIM ClinVar
PMID:3706300 PMID:4360855 PMID:6110091 PMID:9536098 PMID:11099417 PMID:11264985 PMID:11452359 PMID:11893785 PMID:12124998 PMID:15054092 PMID:15375183 PMID:15816807 PMID:15996216 PMID:16029460 PMID:16199547 PMID:16472606 PMID:17576681 PMID:17632509 PMID:20854103 PMID:21039838 PMID:21274884 PMID:22898925 PMID:22981120 PMID:23241408 PMID:23685560 PMID:24166850 PMID:24497850 PMID:24657386 PMID:25073796 PMID:25110228 PMID:25741868 PMID:28492532 PMID:28521186 PMID:28739549 PMID:29169939 PMID:29353225 PMID:29590070 PMID:29886606 PMID:30007774 PMID:30241732 PMID:30333156 PMID:30459115 PMID:30545335 PMID:30968598 PMID:31327807 PMID:32041611 PMID:32088153 PMID:32166861 PMID:32275988 PMID:32702746 PMID:32862661 PMID:32935436 PMID:33228147 PMID:33269076 PMID:34426522 PMID:34650182 PMID:34969652 PMID:35248527 PMID:35549507 More...
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
G
Dync2li1
dynein cytoplasmic 2 light intermediate chain 1
ISO
ClinVar Annotator: match by term: Sitosterolemia 1
ClinVar
PMID:11138003 PMID:11668628 PMID:16029460 PMID:17228349 PMID:17976197 PMID:19111681 PMID:20521169 PMID:20719861 PMID:21729603 PMID:24033266 PMID:24166850 PMID:24423340 PMID:24503134 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26813946 PMID:27884173 PMID:28492532 PMID:28521186 PMID:28696550 PMID:28748566 PMID:29055934 PMID:29066094 PMID:29304564 PMID:29353225 PMID:29886606 PMID:30528907 PMID:30697800 PMID:30833958 PMID:31060161 PMID:31064749 PMID:31392106 PMID:31589614 PMID:32041611 PMID:32088153 PMID:32862661 PMID:33217533 PMID:33269076 PMID:34268478 PMID:34304999 PMID:34969652 PMID:34998859 PMID:35741760 PMID:36229885 More...
NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
G
Abcg5
ATP binding cassette subfamily G member 5
ISO
ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2
OMIM ClinVar
PMID:11099417 PMID:11138003 PMID:11668628 PMID:11893785 PMID:11907139 PMID:15054092 PMID:15375183 PMID:16029460 PMID:17228349 PMID:17632509 PMID:17976197 PMID:19111681 PMID:19667188 PMID:20466091 PMID:20521169 PMID:20543520 PMID:20719861 PMID:20849526 PMID:21039838 PMID:21274884 PMID:21729603 PMID:22898925 PMID:24033266 PMID:24166850 PMID:24423340 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26813946 PMID:27884173 PMID:28203044 PMID:28492532 PMID:28521186 PMID:28696550 PMID:28748566 PMID:28771437 PMID:29055934 PMID:29066094 PMID:29304564 PMID:29353225 PMID:29886606 PMID:30007774 PMID:30270055 PMID:30528907 PMID:30697800 PMID:30782472 PMID:30833958 PMID:30985648 PMID:31060161 PMID:31064749 PMID:31392106 PMID:31589614 PMID:31901240 PMID:32041611 PMID:32088153 PMID:32166861 PMID:32275988 PMID:32862661 PMID:33217533 PMID:33269076 PMID:33642439 PMID:34268478 PMID:34304999 PMID:34355501 PMID:34505049 PMID:34615826 PMID:34650182 PMID:34969652 PMID:34998859 PMID:35042526 PMID:35557526 PMID:35741760 PMID:36229885 More...
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
G
Abcg8
ATP binding cassette subfamily G member 8
ISO
ClinVar Annotator: match by term: Sitosterolemia 2
ClinVar
PMID:11893785 PMID:17632509 PMID:21039838 PMID:21274884 PMID:22898925 PMID:25741868 PMID:28492532 More...
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
G
Dync2li1
dynein cytoplasmic 2 light intermediate chain 1
ISO
ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2
ClinVar
PMID:11099417 PMID:11138003 PMID:11668628 PMID:11907139 PMID:15054092 PMID:15375183 PMID:16029460 PMID:17228349 PMID:17976197 PMID:19111681 PMID:19667188 PMID:20521169 PMID:20543520 PMID:20719861 PMID:21729603 PMID:24033266 PMID:24166850 PMID:24423340 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26813946 PMID:27884173 PMID:28203044 PMID:28492532 PMID:28521186 PMID:28696550 PMID:28748566 PMID:28771437 PMID:29055934 PMID:29066094 PMID:29304564 PMID:29353225 PMID:29886606 PMID:30007774 PMID:30528907 PMID:30697800 PMID:30782472 PMID:30833958 PMID:30985648 PMID:31060161 PMID:31064749 PMID:31392106 PMID:31589614 PMID:31901240 PMID:32041611 PMID:32088153 PMID:32166861 PMID:32275988 PMID:32862661 PMID:33217533 PMID:33269076 PMID:33642439 PMID:34268478 PMID:34304999 PMID:34355501 PMID:34505049 PMID:34615826 PMID:34969652 PMID:34998859 PMID:35741760 PMID:36229885 More...
NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
G
Aldh3a2
aldehyde dehydrogenase 3 family, member A2
ISO
ClinVar Annotator: match by term: Sjögren-Larsson syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 PMID:9536098 PMID:9829906 PMID:10384396 PMID:10577908 PMID:10792573 PMID:10854114 PMID:11408337 PMID:15241804 PMID:15931689 PMID:16199547 PMID:16536828 PMID:16546179 PMID:16837225 PMID:16903323 PMID:17576681 PMID:17902024 PMID:17971613 PMID:17998529 PMID:18035827 PMID:19124283 PMID:19197545 PMID:19965611 PMID:20049467 PMID:21531120 PMID:21872273 PMID:21968182 PMID:22397046 PMID:23034980 PMID:23450279 PMID:24033266 PMID:25047030 PMID:25532748 PMID:25641190 PMID:25741868 PMID:25855245 PMID:27717089 PMID:28025403 PMID:28257279 PMID:28471629 PMID:28492532 PMID:29071827 PMID:29130490 PMID:29159939 PMID:29183715 PMID:29704247 PMID:30157790 PMID:30372562 PMID:30925032 PMID:31273323 PMID:31953843 PMID:32005694 PMID:32506993 More...
NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
G
Krt14
keratin 14
ISO
ClinVar Annotator: match by term: Sjögren-Larsson syndrome
ClinVar
PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 More...
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
G
Clcn1
chloride voltage-gated channel 1
ISO
ClinVar Annotator: match by term: RSH syndrome
ClinVar
PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958 PMID:9736777 PMID:12390967 PMID:15162127 PMID:15786415 PMID:17932099 PMID:18337100 PMID:18337730 PMID:18816629 PMID:21387378 PMID:22094069 PMID:22649220 PMID:23516313 PMID:23739125 PMID:23893571 PMID:24037712 PMID:24349310 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28662944 PMID:29606556 PMID:31589614 PMID:34529042 More...
NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
G
Dhcr7
7-dehydrocholesterol reductase
ISO ISS
DNA:insertion ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome OMIM:270400 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:2945519 PMID:8259166 PMID:8737829 PMID:8989473 PMID:9024557 PMID:9536098 PMID:9634533 PMID:9653161 PMID:9683613 PMID:9714006 PMID:9714007 PMID:10405455 PMID:10602371 PMID:10677299 PMID:10710236 PMID:10748414 PMID:10807690 PMID:10814720 PMID:10896306 PMID:10995508 PMID:11001807 PMID:11078571 PMID:11111101 PMID:11161831 PMID:11175299 PMID:11186897 PMID:11241839 PMID:11254748 PMID:11298379 PMID:11427181 PMID:11453964 PMID:11471166 PMID:11562938 PMID:11745994 PMID:11767235 PMID:11857552 PMID:12070263 PMID:12270273 PMID:12794707 PMID:12818773 PMID:12906934 PMID:12914579 PMID:12949967 PMID:14556255 PMID:14659996 PMID:14981719 PMID:15013448 PMID:15286151 PMID:15464432 PMID:15521979 PMID:15670717 PMID:15776424 PMID:15805162 PMID:15877207 PMID:15896653 PMID:15952211 PMID:15954111 PMID:15979035 PMID:16044199 PMID:16181459 PMID:16199547 PMID:16207203 PMID:16392899 PMID:16435228 PMID:16446309 PMID:16497572 PMID:16761297 PMID:16814115 PMID:16906538 PMID:16983147 PMID:17237122 PMID:17441222 PMID:17497248 PMID:17576681 PMID:17965227 PMID:17974928 PMID:17994283 PMID:18006960 PMID:18076100 PMID:18249054 PMID:18285838 PMID:19365639 PMID:19390132 PMID:20014133 PMID:20052364 PMID:20104611 PMID:20301322 PMID:20556518 PMID:20635399 PMID:20694756 PMID:21696385 PMID:21706511 PMID:21777499 PMID:21990131 PMID:22211794 PMID:22226660 PMID:22382802 PMID:22391996 PMID:22438180 PMID:22929031 PMID:22975760 PMID:23042628 PMID:23293579 PMID:23603282 PMID:23790112 PMID:23918729 PMID:24033266 PMID:24500076 PMID:24813812 PMID:24824134 PMID:25040602 PMID:25108116 PMID:25307054 PMID:25405082 PMID:25533962 PMID:25734025 PMID:25741868 PMID:25807282 PMID:26350204 PMID:26467025 PMID:26539891 PMID:26887953 PMID:26969503 PMID:27097157 PMID:27401223 PMID:27415407 PMID:27513191 PMID:28166604 PMID:28250423 PMID:28349652 PMID:28397838 PMID:28492532 PMID:28503313 PMID:28972118 PMID:29300326 PMID:29368431 PMID:29455191 PMID:29698737 PMID:29907799 PMID:30586318 PMID:30925529 PMID:31088393 PMID:31130284 PMID:31178897 PMID:31395954 PMID:31840946 PMID:32055014 PMID:33204589 PMID:33223529 PMID:33270637 PMID:33578785 PMID:33890232 PMID:34168679 PMID:34958143 PMID:35305950 PMID:35795205 PMID:36600793 PMID:9683613 PMID:11230174 More...
RGD:1600899 , RGD:734884
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
G
Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
ClinVar
PMID:10208499 PMID:12730724 PMID:15701167 PMID:17445538 PMID:17694954 PMID:25741868 PMID:28492532 More...
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Nadsyn1
NAD synthetase 1
ISO
ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
ClinVar
PMID:23042628 PMID:24813812 PMID:25040602 PMID:25741868 PMID:28250423 PMID:28492532 PMID:31130284 PMID:34168679 More...
NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
G
Pax6
paired box 6
IEP
protein:altered expression:embryo, forebrain, hindbrain (rat)
RGD
PMID:10564872
RGD:8552380
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
G
Asah1
N-acylsphingosine amidohydrolase 1
susceptibility
ISO
RGD
PMID:11241842
RGD:734977
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
G
Sumf1
sulfatase modifying factor 1
ISO
Multiple Sulfatase Deficiency Disease
RGD
PMID:12757705
RGD:1599192
NCBI chr 4:141,078,735...141,160,711
Ensembl chr 4:141,078,741...141,160,708
G
Abca1
ATP binding cassette subfamily A member 1
treatment
IEP ISO
associated with adult growth hormone deficiency
RGD
PMID:15995177 PMID:26362727 PMID:30130150
RGD:1598534 , RGD:21408552 , RGD:18936993
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
G
Abcc2
ATP binding cassette subfamily C member 2
IEP
RGD
PMID:16139386
RGD:1598602
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
G
Abcc3
ATP binding cassette subfamily C member 3
IEP
mRNA, protein:increased expression:liver
RGD
PMID:17640958
RGD:2301064
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
G
Acaca
acetyl-CoA carboxylase alpha
IDA
RGD
PMID:16485039
RGD:1625727
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
G
Acacb
acetyl-CoA carboxylase beta
IDA
RGD
PMID:16485039
RGD:1625727
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
G
Acat1
acetyl-CoA acetyltransferase 1
treatment
ISO
RGD
PMID:27813192
RGD:401842386
NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
G
Acox1
acyl-CoA oxidase 1
treatment
IEP
RGD
PMID:30298849
RGD:401960083
NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
G
Adipoq
adiponectin, C1Q and collagen domain containing
IEP ISO
associated with hepatitis C;protein:increased expression:serum protein:increased expression:plasma
RGD
PMID:17006986 PMID:20714777 PMID:16115302
RGD:1599139 , RGD:5686883 , RGD:5686674
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adipor2
adiponectin receptor 2
treatment
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:30225267 PMID:19076162
RGD:21406435 , RGD:2307264
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
G
Adk
adenosine kinase
ISS
OMIM:228100
MouseDO
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
G
Adrb2
adrenoceptor beta 2
ISO
RGD
PMID:11718682
RGD:1559320
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Akp3
alkaline phosphatase 3, intestine, not Mn requiring
ISO
RGD
PMID:17332477
RGD:14349048
NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913
G
Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32045588
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
G
Alpl
alkaline phosphatase, biomineralization associated
ISO
associated with obesity
RGD
PMID:16197789
RGD:1601177
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
G
Angptl4
angiopoietin-like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28842503 PMID:15837923
RGD:1625354
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
G
Apoa1
apolipoprotein A1
treatment
IEP
RGD
PMID:30231880
RGD:25671436
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apob
apolipoprotein B
IEP ISO
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12048068 PMID:17303181 PMID:17203948
RGD:2325770
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Apoe
apolipoprotein E
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32853627 PMID:29459263
RGD:13703129
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Atf4
activating transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27664470
NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
G
Atf6
activating transcription factor 6
treatment
ISO
RGD
PMID:27813192
RGD:401842386
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
G
Atp5if1
ATP synthase inhibitory factor subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 5:144,738,950...144,742,668
Ensembl chr 5:144,738,950...144,742,668
G
Atp7b
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303181
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
G
Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
G
Car3
carbonic anhydrase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280
G
Cat
catalase
IEP ISO
protein:decreased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10860543 PMID:21452373
RGD:5130871
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29684222 PMID:22983634
RGD:8548844
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:liver
RGD
PMID:28011329 PMID:28011329
RGD:14995306 , RGD:14995306
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Cd163
CD163 molecule
ISO
associated with hepatitis B;protein:increased expression:blood serum (human)
RGD
PMID:26339412
RGD:11251207
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cd36
CD36 molecule
ISO
RGD
PMID:19788606
RGD:6893500
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Cebpb
CCAAT/enhancer binding protein beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469900
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
G
Cndp2
carnosine dipeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15787813
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
G
Cps1
carbamoyl-phosphate synthase 1
IEP
protein:increased expression:liver (rat)
RGD
PMID:20347174
RGD:4144089
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
G
Creb1
cAMP responsive element binding protein 1
ISO
RGD
PMID:14614508
RGD:734818
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
G
Ctsb
cathepsin B
IEP
mRNA, protein:increased expression, increased activity:liver, cytosol (rat)
RGD
PMID:18452148
RGD:2315513
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA,protein:increased expression:liver,serum
RGD
PMID:25048951
RGD:27095890
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cycs
cytochrome c, somatic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10860543
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11929713
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27036855
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
G
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:31175967
RGD:25671414
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
IEP ISO
protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18952117 PMID:19404342 PMID:14606109
RGD:4892244 , RGD:1626302
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
G
Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23391614
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
G
Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27664470
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
G
Dgat2
diacylglycerol O-acyltransferase 2
treatment
IMP
RGD
PMID:17526931
RGD:10400884
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
G
Dhrs7
dehydrogenase/reductase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 6:91,332,259...91,347,856
Ensembl chr 6:91,251,323...91,347,892
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
treatment
ISO
RGD
PMID:27813192
RGD:401842386
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
G
Epas1
endothelial PAS domain protein 1
ISO
RGD
PMID:14608355
RGD:734934
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Ern1
endoplasmic reticulum to nucleus signaling 1
treatment
ISO
RGD
PMID:27813192
RGD:401842386
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
G
F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008134
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F2r
coagulation factor II (thrombin) receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008134 PMID:21907177 PMID:22841818
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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Fabp1
fatty acid binding protein 1
ISO
Western diet-induced hepatic steatosis
RGD
PMID:17058218
RGD:1626440
NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
G
Fgf21
fibroblast growth factor 21
severity
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:24184811 PMID:32195457
RGD:25330354
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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Fgfr1
Fibroblast growth factor receptor 1
severity
ISO
RGD
PMID:32195457
RGD:25330354
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fis1
fission, mitochondrial 1
IEP
protein:increased expression:liver (rat)
RGD
PMID:24663492
RGD:12453042
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Foxa1
forkhead box A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469900
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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G6pc1
glucose-6-phosphatase catalytic subunit 1
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:29534506
RGD:14695544
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
G
Gck
glucokinase
IDA ISO
associated with Hyperglycemia
RGD
PMID:22925001 PMID:22925001
RGD:7488945 , RGD:7488945
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Ggt1
gamma-glutamyltransferase 1
disease_progression
ISO
RGD
PMID:19670414
RGD:14747016
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gpd1l1
glycerol-3-phosphate dehydrogenase 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
G
Gpt
glutamic--pyruvic transaminase
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:19481104 PMID:30185098
RGD:14975167
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
G
Gpt2
glutamic--pyruvic transaminase 2
ISO
mRNA:increased expression:liver
RGD
PMID:15122758
RGD:14975241
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
G
Gpx1
glutathione peroxidase 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10860543 PMID:30298849
RGD:401960083
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26042203
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015
RGD
PMID:7846063
RGD:1599882
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17116638
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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Has3
hyaluronan synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27042213
NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
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Hfe
homeostatic iron regulator
no_association
ISO
Non-alcoholic steatohepatitis (NASH) non-alcoholic fatty liver disease
RGD
PMID:12105842 PMID:11473047
RGD:1601460 , RGD:1601452
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hhex
hematopoietically expressed homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469900
NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042
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Hm13
histocompatibility minor 13
ISO
associated with hepatitis
RGD
PMID:27142248
RGD:40924634
NCBI chr 3:141,145,792...141,183,557
Ensembl chr 3:141,145,782...141,184,703
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Hsd17b13
hydroxysteroid (17-beta) dehydrogenase 13
ISO
ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM
ClinVar
PMID:29562163 PMID:34930143
NCBI chr14:5,751,697...5,766,809
Ensembl chr14:5,752,132...5,768,166
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Hspa5
heat shock protein family A (Hsp70) member 5
treatment
IEP ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver:
RGD
PMID:23647685 PMID:27813192
RGD:11354957 , RGD:401842386
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Htr2b
5-hydroxytryptamine receptor 2B
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISS
OMIM:228100
MouseDO
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Il10
interleukin 10
IEP
associated with Diabetes Mellitus
RGD
PMID:18267346
RGD:2308948
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13ra2
interleukin 13 receptor subunit alpha 2
IMP
RGD
PMID:18802068
RGD:4145478
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il18
interleukin 18
IDA
RGD
PMID:19084941
RGD:4889416
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
IEP
protein:increased expression:serum
RGD
PMID:17436085
RGD:1626661
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il6
interleukin 6
ISO IAGP
associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse) associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)
RGD
PMID:19205029 PMID:19076162
RGD:2307258 , RGD:2307264
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins2
insulin 2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9048448 PMID:18713300
RGD:2311137
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Insig1
insulin induced gene 1
severity
ISO IEP
associated with Obesity associated with Obesity;mRNA:increased expression:liver
RGD
PMID:15096598 PMID:15096598
RGD:2308857 , RGD:2308857
NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952
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Insig2
insulin induced gene 2
severity
ISO
associated with Obesity
RGD
PMID:15096598
RGD:2308857
NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923
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Insr
insulin receptor
treatment
IEP IMP
associated with obesity;human gene in mouse model protein:decreased phosphorylation: liver (rat)
RGD
PMID:25160038 PMID:30642871 PMID:22546076
RGD:14700926 , RGD:14701028 , RGD:14700935
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Jak2
Janus kinase 2
ISO
RGD
PMID:22275361
RGD:6483019
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Keap1
Kelch-like ECH-associated protein 1
ISO
RGD
PMID:22367278
RGD:6893372
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Ldlr
low density lipoprotein receptor
IMP ISS ISO
OMIM:228100 CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:25554529 PMID:36108984 PMID:29459263
RGD:13703129
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Ldlrem1Dlli
low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli
IMP
RGD
PMID:29459263
RGD:13703129
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Lep
leptin
severity
IEP ISO ISS
associated with morbid obesity;protein:decreased exprssion:serum (human) CTD Direct Evidence: marker/mechanism OMIM:228100
CTD MouseDO RGD
PMID:12661780 PMID:19716478 PMID:24525044 PMID:25554529 PMID:27071101 PMID:27712037 PMID:28281237 More...
RGD:21201250
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25367288 PMID:29743445
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lgals3
galectin 3
ISS
OMIM:228100
MouseDO
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lrp6
LDL receptor related protein 6
ISS
OMIM:228100
MouseDO
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
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Map3k8
mitogen-activated protein kinase kinase kinase 8
ameliorates
ISO
RGD
PMID:26560698
RGD:11342977
NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
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Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:21540183
RGD:9585751
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mat1a
methionine adenosyltransferase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12060674
NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
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Mc4r
melanocortin 4 receptor
ISS
OMIM:228100
MouseDO
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32045588
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mfn2
mitofusin 2
IEP
protein:decreased expression:liver (rat)
RGD
PMID:24663492
RGD:12453042
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir10b
microRNA 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546
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Mir125a
microRNA 125a
ISO
RGD
PMID:31988048
RGD:21403676
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Mir134
microRNA 134
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,748,908...128,748,980
G
Mir139
microRNA 139
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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Mir148b
microRNA 148b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 7:134,421,398...134,421,494
Ensembl chr 7:134,421,398...134,421,494
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Mir150
microRNA 150
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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Mir154
microRNA 154
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
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Mir17
microRNA 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir183
microRNA 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723
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Mir219a1
microRNA 219a-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796
G
Mir22
microRNA 22
severity
ISO
RGD
PMID:32195457 PMID:32195457
RGD:25330354 , RGD:25330354
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
G
Mir224
microRNA 224
IEP
associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human)
RGD
PMID:25386083
RGD:18182925
NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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Mir320a
microRNA 320a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30125006
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mir34a
microRNA 34a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23834033
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
G
Mir410
microRNA 410
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
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Mir449c
microRNA 449c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr 2:44,669,179...44,669,277
Ensembl chr 2:44,669,179...44,669,277
G
Mir503
microRNA 503
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr X:132,806,303...132,806,373
Ensembl chr X:132,806,303...132,806,373
G
Mir542
microRNA 542
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363424
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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Mthfr
methylenetetrahydrofolate reductase
ISO
associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human)
RGD
PMID:15834927
RGD:1580580
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Mttp
microsomal triglyceride transfer protein
ISO
associated with Hepatitis C;mRNA:decreased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17303181 PMID:16697730
RGD:1625483
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24210820
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:21285402
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28555106 PMID:22367278
RGD:6893372
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nfkb1
nuclear factor kappa B subunit 1
IDA
RGD
PMID:21643627
RGD:5135028
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nox4
NADPH oxidase 4
treatment
IEP
RGD
PMID:30298849
RGD:401960083
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nqo1
NAD(P)H quinone dehydrogenase 1
IEP
protein:increased activity:liver
RGD
PMID:17721935
RGD:5133249
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nr0b2
nuclear receptor subfamily 0, group B, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27664470
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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Nr1d1
nuclear receptor subfamily 1, group D, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27664470
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23651738
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment severity
ISO
CTD Direct Evidence: marker/mechanism knockout eliminates treatment effectiveness
CTD RGD
PMID:29142166 PMID:12971955 PMID:23104131
RGD:15045573 , RGD:14696795
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25182422
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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Nr3c2
nuclear receptor subfamily 3, group C, member 2
treatment
IEP
RGD
PMID:30298849
RGD:401960083
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Nrep
neuronal regeneration related protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr18:25,017,069...25,046,593
Ensembl chr18:25,017,083...25,046,591
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33812996
NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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Opa1
OPA1, mitochondrial dynamin like GTPase
IEP ISO
protein:increased expression:liver (rat) ClinVar Annotator: match by term: Hepatic steatosis
ClinVar RGD
PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 PMID:25741868 PMID:26467025 PMID:27165006 PMID:27890673 PMID:28492532 PMID:31521625 PMID:32420686 PMID:37196654 PMID:24663492 More...
RGD:12453042
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Otc
ornithine transcarbamylase
IEP
protein:increased expression:serum (rat)
RGD
PMID:18823438
RGD:4144061
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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Pex5
peroxisomal biogenesis factor 5
ISO
RGD
PMID:21756965
RGD:25440484
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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Plin2
perilipin 2
ISO
associated with Obesity CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16439473 PMID:17484887
RGD:1625752
NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319
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Pnpla3
patatin-like phospholipase domain containing 3
severity
ISO
CTD Direct Evidence: marker/mechanism associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human) associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
CTD RGD
PMID:25678388 PMID:25284145 PMID:25678388 PMID:21319195 PMID:23564580
RGD:14981590 , RGD:11055420 , RGD:14981585 , RGD:14981583
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:167377
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26945512
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppara
peroxisome proliferator activated receptor alpha
ISO IEP
associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:19124612 PMID:21929649 PMID:16393287
RGD:5509939 , RGD:15042851
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ppard
peroxisome proliferator-activated receptor delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23851158
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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Pparg
peroxisome proliferator-activated receptor gamma
treatment
IEP
RGD
PMID:15112352 PMID:30298849
RGD:1580685 , RGD:401960083
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a
PPARG coactivator 1 alpha
treatment
IDA IEP ISO
protein:decreased methylation:liver (rat)
RGD
PMID:23274094 PMID:22521344 PMID:23174781
RGD:7241844 , RGD:7242179 , RGD:7242012
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
RGD
PMID:19162361
RGD:6484544
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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Prkcd
protein kinase C, delta
ISO
RGD
PMID:17596878
RGD:1642523
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Prmt7
protein arginine methyltransferase 7
ISO
ClinVar Annotator: match by term: Hepatic steatosis
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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Psma5
proteasome 20S subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731
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Pten
phosphatase and tensin homolog
IEP ISS ISO
protein:decreased expression:liver OMIM:228100 CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:27022031 PMID:18166358 PMID:15199412
RGD:2292522 , RGD:1302555
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
mRNA,protein:increased expression:liver
RGD
PMID:21643627
RGD:5135028
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptma
prothymosin alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15885234
NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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Rela
RELA proto-oncogene, NF-kB subunit
IDA
RGD
PMID:21643627
RGD:5135028
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Ripk3
receptor-interacting serine-threonine kinase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26769846
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21661758
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpina6
serpin family A member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18641190 PMID:29684222
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Shc1
SHC adaptor protein 1
ISO
associated with Obesity
RGD
PMID:17596878
RGD:1642523
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Sirt1
sirtuin 1
ISO ISS
associated with Obesity OMIM:228100 CTD Direct Evidence: marker/mechanism|therapeutic
MouseDO CTD RGD
PMID:21321189 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997 PMID:21540183 More...
RGD:9585751
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt6
sirtuin 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28536482
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Sirt7
sirtuin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24210820
NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172
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Slc13a5
solute carrier family 13 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26303333
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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Slc22a8
solute carrier family 22 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25226513
NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450
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Slc27a4
solute carrier family 27 member 4
IEP
mRNA, protein:increased expression
RGD
PMID:16248953
RGD:1625640
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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Slc2a2
solute carrier family 2 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12048068
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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Slco1a4
solute carrier organic anion transporter family, member 1a4
IEP
RGD
PMID:16139386
RGD:1598602
NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573
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Socs1
suppressor of cytokine signaling 1
ISO
associated with Obesity
RGD
PMID:15240880
RGD:1625677
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Socs3
suppressor of cytokine signaling 3
ISO
associated with Obesity
RGD
PMID:15240880
RGD:1625677
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27349771
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10860543
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24469900 PMID:27813192
RGD:401842386
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16799967
RGD:25671424
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Sts
steroid sulfatase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24497646
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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Suox
sulfite oxidase
IEP
protein:decreased expression:liver
RGD
PMID:15144217
RGD:1600114
NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038
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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20008134 PMID:21907177
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18641190 PMID:27022031
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23348005
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Txn1
thioredoxin 1
IEP
RGD
PMID:18578693
RGD:2306156
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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Ucp2
uncoupling protein 2
IEP ISO
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10860543 PMID:21114362
RGD:7204423
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Vdr
vitamin D receptor
ISO
RGD
PMID:30905785 PMID:30905785
RGD:14402029 , RGD:14402029
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097666
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
ISO
ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10521307 PMID:11102558 PMID:12112118 PMID:12555940 PMID:12696021 PMID:12872843 PMID:15059617 PMID:15342248 PMID:16148061 PMID:16176262 PMID:17236142 PMID:17618155 PMID:18996107 PMID:20077426 PMID:22132097 PMID:23266819 PMID:24549042 PMID:25526675 PMID:25741868 PMID:26950678 PMID:28333917 PMID:28492532 PMID:31654490 PMID:34765396 More...
NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
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Abca1
ATP binding cassette subfamily A member 1
ISO ISS
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease OMIM:205400 CTD Direct Evidence: marker/mechanism DNA:mutations: :
ClinVar MouseDO CTD OMIM RGD
PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 PMID:10938021 PMID:11238261 PMID:11257261 PMID:11476961 PMID:11476965 PMID:11940086 PMID:12111381 PMID:12204794 PMID:12624133 PMID:12702168 PMID:12763760 PMID:15262183 PMID:15297675 PMID:15486467 PMID:15520867 PMID:15790791 PMID:15935359 PMID:16226177 PMID:16343503 PMID:16372134 PMID:16429166 PMID:16806540 PMID:16855366 PMID:16873719 PMID:17113061 PMID:17303779 PMID:17383594 PMID:17710129 PMID:18199144 PMID:18354102 PMID:18523221 PMID:18776170 PMID:19133158 PMID:19202195 PMID:19596329 PMID:19743957 PMID:20011639 PMID:20093111 PMID:20418488 PMID:20427018 PMID:20595220 PMID:20656214 PMID:20800056 PMID:20849526 PMID:20880529 PMID:20981092 PMID:21315358 PMID:21860089 PMID:21875686 PMID:22923419 PMID:22923420 PMID:22995991 PMID:23087442 PMID:23139370 PMID:23152888 PMID:23376243 PMID:23559627 PMID:23685560 PMID:23770607 PMID:24036952 PMID:24097981 PMID:24456889 PMID:24497850 PMID:24503134 PMID:24894453 PMID:25215231 PMID:25741868 PMID:26255038 PMID:26350511 PMID:27745835 PMID:27884173 PMID:28492532 PMID:28870971 PMID:29224928 PMID:29535370 PMID:30333156 PMID:30795984 PMID:31973102 PMID:32041611 PMID:35460704 PMID:36053979 PMID:11086027 PMID:15841208 PMID:10431236 More...
RGD:1600951 , RGD:19165130 , RGD:1298571
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Tangier disease
ClinVar
PMID:7583566 PMID:7981179 PMID:8282791 PMID:25341944 PMID:25741868 PMID:28492532 More...
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Adpgk
ADP-dependent glucokinase
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
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Arih1
ariadne RBR E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
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Bbs4
Bardet-Biedl syndrome 4
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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Cd276
Cd276 molecule
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
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Celf6
CUGBP, Elav-like family member 6
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041
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Gm2a
ganglioside GM2 activator
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
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Gramd2a
GRAM domain containing 2A
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842
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Hcn4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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Hexa
hexosaminidase subunit alpha
ISO ISS
ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult OMIM:272800 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:803011 PMID:1269177 PMID:1301189 PMID:1301190 PMID:1301937 PMID:1301938 PMID:1301958 PMID:1302612 PMID:1307230 PMID:1318511 PMID:1322637 PMID:1384323 PMID:1387685 PMID:1415222 PMID:1483696 PMID:1532289 PMID:1827944 PMID:1827945 PMID:1830584 PMID:1831451 PMID:1832817 PMID:1833974 PMID:1837283 PMID:1996872 PMID:2137287 PMID:2139660 PMID:2140574 PMID:2141777 PMID:2144098 PMID:2145759 PMID:2278539 PMID:2294750 PMID:2521932 PMID:2522660 PMID:2522679 PMID:2531748 PMID:2824459 PMID:2837213 PMID:2848800 PMID:2934978 PMID:2954459 PMID:2961848 PMID:2970528 PMID:2973311 PMID:2973464 PMID:3362213 PMID:3375249 PMID:3754980 PMID:3837850 PMID:6236221 PMID:6959123 PMID:7063277 PMID:7551830 PMID:7717398 PMID:7749419 PMID:7827134 PMID:7837766 PMID:7858168 PMID:7898712 PMID:7902672 PMID:7951261 PMID:8044648 PMID:8081943 PMID:8111418 PMID:8123671 PMID:8230592 PMID:8257995 PMID:8326491 PMID:8328462 PMID:8328470 PMID:8343225 PMID:8352284 PMID:8397824 PMID:8444467 PMID:8445615 PMID:8484765 PMID:8488832 PMID:8490625 PMID:8581357 PMID:8672428 PMID:8673609 PMID:8730294 PMID:8757036 PMID:8995368 PMID:9090523 PMID:9090529 PMID:9150157 PMID:9153525 PMID:9169471 PMID:9222766 PMID:9272736 PMID:9338583 PMID:9401008 PMID:9536098 PMID:9603435 PMID:9694901 PMID:9851891 PMID:10083731 PMID:10464605 PMID:10571007 PMID:10584247 PMID:10852376 PMID:11161796 PMID:11317368 PMID:11392526 PMID:11463833 PMID:11596984 PMID:11707436 PMID:12027830 PMID:12108829 PMID:12180151 PMID:12202988 PMID:12689698 PMID:14566483 PMID:14577003 PMID:14648242 PMID:14685153 PMID:14724290 PMID:14727180 PMID:15065574 PMID:15108204 PMID:15714079 PMID:16088929 PMID:16199547 PMID:16352452 PMID:16434676 PMID:16698036 PMID:16948947 PMID:17001642 PMID:17015493 PMID:17237499 PMID:17259242 PMID:17576681 PMID:18358410 PMID:18490185 PMID:18648917 PMID:19091716 PMID:19156839 PMID:19644708 PMID:19815695 PMID:19858779 PMID:20100466 PMID:20301350 PMID:20301397 PMID:20363167 PMID:20672374 PMID:20926324 PMID:21228398 PMID:21567908 PMID:21796138 PMID:21937992 PMID:21967858 PMID:22006919 PMID:22344438 PMID:22390110 PMID:22441121 PMID:22723944 PMID:22789865 PMID:22975760 PMID:23035047 PMID:23359698 PMID:23820084 PMID:23852624 PMID:24033266 PMID:24088041 PMID:24374108 PMID:24498621 PMID:24518553 PMID:24583203 PMID:24767253 PMID:24940364 PMID:24953648 PMID:25041270 PMID:25287655 PMID:25326635 PMID:25525159 PMID:25557439 PMID:25606403 PMID:25640679 PMID:25741868 PMID:25741876 PMID:25860343 PMID:26350204 PMID:26467025 PMID:26633545 PMID:27033294 PMID:27054707 PMID:27362553 PMID:27682588 PMID:27896118 PMID:27959697 PMID:28359061 PMID:28492532 PMID:28503624 PMID:28739864 PMID:29214523 PMID:29482223 PMID:29973161 PMID:30506202 PMID:31069529 PMID:31076878 PMID:31130284 PMID:31242539 PMID:31293106 PMID:31367523 PMID:31388111 PMID:31428437 PMID:31839005 PMID:32529985 PMID:32968423 PMID:33083013 PMID:33240792 PMID:33426165 PMID:33547378 PMID:34288098 PMID:34302356 PMID:34426522 PMID:34440436 PMID:34554397 PMID:35186388 PMID:36907859 PMID:28974375 More...
RGD:13673908
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Insyn1
inhibitory synaptic factor 1
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843
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Loxl1
lysyl oxidase-like 1
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
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Myo9a
myosin IXA
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514
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Neo1
neogenin 1
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
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Nptn
neuroplastin
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401
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Nr2e3
nuclear receptor subfamily 2, group E, member 3
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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Parp6
poly (ADP-ribose) polymerase family, member 6
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108
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Pkm
pyruvate kinase M1/2
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
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Rec114
REC114 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887
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Senp8
SUMO peptidase family member, NEDD8 specific
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928
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Setx
senataxin
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Tbc1d21
TBC1 domain family, member 21
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711
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Tmem202
transmembrane protein 202
ISO
ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar
PMID:1833974 PMID:8490625 PMID:28492532
NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609
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Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Tay-sachs disease, juvenile
ClinVar
PMID:1301189 PMID:25741868
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant
ClinVar
PMID:1302612 PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 PMID:2137287 PMID:2521932 PMID:2961848 PMID:2973311 PMID:7551830 PMID:8081943 PMID:8111418 PMID:8730294 PMID:9272736 PMID:10584247 PMID:14577003 PMID:16088929 PMID:17015493 PMID:18490185 PMID:20100466 PMID:20301350 PMID:22441121 PMID:22789865 PMID:23359698 PMID:24088041 PMID:24953648 PMID:25041270 PMID:25741868 PMID:25741876 PMID:27896118 PMID:28359061 PMID:28492532 PMID:30506202 PMID:31367523 PMID:34288098 More...
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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4933427D14Rikl
RIKEN cDNA 4933427D14 gene like
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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Acadl
acyl-CoA dehydrogenase, long chain
ISO ISS
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency OMIM:201475
ClinVar MouseDO
NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO ISS
ClinVar Annotator: match by term: VLCAD deficiency | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency OMIM:201475 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:609575 PMID:2006090 PMID:2951924 PMID:4022672 PMID:7479827 PMID:7668252 PMID:7769092 PMID:8554073 PMID:8739957 PMID:8845838 PMID:9461620 PMID:9536098 PMID:9546340 PMID:9599005 PMID:9709714 PMID:9839948 PMID:9973285 PMID:10077518 PMID:10384387 PMID:10431122 PMID:10518280 PMID:10529389 PMID:10738914 PMID:10790204 PMID:11158518 PMID:11349232 PMID:11590124 PMID:11914034 PMID:12122118 PMID:12208138 PMID:12213615 PMID:12893739 PMID:14517516 PMID:14728674 PMID:15210884 PMID:16199547 PMID:16435213 PMID:16443431 PMID:16464760 PMID:16488171 PMID:16860141 PMID:16895136 PMID:16950999 PMID:16982043 PMID:17206456 PMID:17374501 PMID:17514507 PMID:17576681 PMID:17999356 PMID:18227065 PMID:18414213 PMID:18670371 PMID:19208414 PMID:19327992 PMID:20056241 PMID:20060901 PMID:20107901 PMID:20301763 PMID:20480395 PMID:20547398 PMID:20694756 PMID:21228398 PMID:21378393 PMID:21429517 PMID:21531094 PMID:21814341 PMID:21932095 PMID:22494076 PMID:22841441 PMID:22847164 PMID:23169530 PMID:23418865 PMID:23430948 PMID:23430950 PMID:23480858 PMID:23700290 PMID:23757202 PMID:23774949 PMID:23798014 PMID:23867825 PMID:23966064 PMID:24033266 PMID:24263034 PMID:24305961 PMID:24330285 PMID:24503138 PMID:24801231 PMID:24898617 PMID:25085675 PMID:25087612 PMID:25214167 PMID:25242572 PMID:25338548 PMID:25456746 PMID:25525159 PMID:25652019 PMID:25655073 PMID:25737446 PMID:25741868 PMID:25811481 PMID:25834949 PMID:25843429 PMID:26182500 PMID:26385305 PMID:26453363 PMID:26602010 PMID:26743058 PMID:26881790 PMID:26927351 PMID:26937394 PMID:27029698 PMID:27209629 PMID:27246109 PMID:27538624 PMID:27884173 PMID:27943070 PMID:27995075 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28747690 PMID:28755339 PMID:28755359 PMID:28871440 PMID:29111448 PMID:29268767 PMID:29519241 PMID:29552494 PMID:29768383 PMID:29961767 PMID:30023301 PMID:30194637 PMID:30950014 PMID:31031081 PMID:31191348 PMID:31497477 PMID:31620161 PMID:31737040 PMID:31794763 PMID:31983732 PMID:32054689 PMID:32061778 PMID:32276429 PMID:32380161 PMID:32518924 PMID:32558070 PMID:32581362 PMID:32655480 PMID:32669490 PMID:32710939 PMID:32778825 PMID:32793418 PMID:32798077 PMID:32860008 PMID:32928639 PMID:32954689 PMID:33123633 PMID:33150772 PMID:33610471 PMID:33986768 PMID:33996489 PMID:34184355 PMID:34194748 PMID:34426522 PMID:34437764 PMID:34480364 PMID:34485012 PMID:34704412 PMID:35193651 PMID:35218577 PMID:35281659 PMID:35281663 PMID:35400565 PMID:35626289 PMID:36078043 PMID:36109795 More...
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Acap1
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
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Aipl1
aryl hydrocarbon receptor-interacting protein-like 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Alox15b
arachidonate 15-lipoxygenase, type B
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Asgr1
asialoglycoprotein receptor 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
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Asgr2
asialoglycoprotein receptor 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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Bcl6b
BCL6B, transcription repressor
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
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Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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C10h17orf100
similar to human chromosome 17 open reading frame 100
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr10:56,840,451...56,843,674
Ensembl chr10:56,832,412...56,843,871
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C10h17orf49
similar to human chromosome 17 open reading frame 49
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
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Cd68
Cd68 molecule
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Chd3
chromodomain helicase DNA binding protein 3
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
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Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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Clec10a
C-type lectin domain containing 10A
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
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Cntrob
centrobin, centriole duplication and spindle assembly protein
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
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Cyb5d1
cytochrome b5 domain containing 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:16199547 PMID:23169530 PMID:23480858 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
G
Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9839948 PMID:9973285 PMID:10077518 PMID:11590124 PMID:14517516 PMID:17374501 PMID:17999356 PMID:18227065 PMID:21932095 PMID:25741868 PMID:26453363 PMID:27246109 PMID:28492532 More...
NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
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Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
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Eif4a1
eukaryotic translation initiation factor 4A1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858
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Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
G
Fbxo39
F-box protein 39
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
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Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
G
Fxr2
FMR1 autosomal homolog 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
G
Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
G
Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
G
Gucy2d
guanylate cyclase 2D, retinal
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
G
Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
G
Kcnab3
potassium voltage-gated channel subfamily A regulatory beta subunit 3
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
G
Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
G
Kdm6b
lysine demethylase 6B
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
G
Med31
mediator complex subunit 31
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr10:56,836,944...56,840,326
Ensembl chr10:56,836,944...56,840,326
G
Mir195
microRNA 195
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
G
Mpdu1
mannose-P-dolichol utilization defect 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
G
Naa38
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
G
Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
G
Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434
G
Per1
period circadian regulator 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
G
Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
G
Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
G
Pimreg
PICALM interacting mitotic regulator
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791
G
Pitpnm3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
G
Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
G
Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
G
Rangrf
RAN guanine nucleotide release factor
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
G
Rnasek
ribonuclease K
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601
G
Sat2
spermidine/spermine N1-acetyltransferase family member 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
G
Senp3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
G
Shbg
sex hormone binding globulin
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
G
Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
G
Slc16a11
solute carrier family 16, member 11
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
G
Slc16a13
solute carrier family 16, member 13
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
G
Slc25a35
solute carrier family 25, member 35
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160
G
Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
G
Slc35g3
solute carrier family 35, member G3
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
G
Sox15
SRY-box transcription factor 15
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591
G
Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
G
Spem2
SPEM family member 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
G
Tekt1
tektin 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
G
Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
G
Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
G
Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
G
Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
G
Tnfsf12
TNF superfamily member 12
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
G
Tnfsf13
TNF superfamily member 13
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
G
Tnk1
tyrosine kinase, non-receptor, 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Trappc1
trafficking protein particle complex subunit 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
G
Txndc17
thioredoxin domain containing 17
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr10:56,832,749...56,835,721
G
Vamp2
vesicle-associated membrane protein 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
G
Wrap53
WD repeat containing, antisense to TP53
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
G
Xaf1
XIAP associated factor 1
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
G
Ybx2
Y box binding protein 2
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
G
Zbtb4
zinc finger and BTB domain containing 4
ISO
ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency
ClinVar
PMID:9973285 PMID:11590124 PMID:28492532
NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
G
Ifit1
interferon-induced protein with tetratricopeptide repeats 1
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435
G
Ifit2
interferon-induced protein with tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635
G
Ifit3
interferon-induced protein with tetratricopeptide repeats 3
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307
G
Lipa
lipase A, lysosomal acid type
ISO ISS
ClinVar Annotator: match by term: Wolman disease
MouseDO OMIM ClinVar RGD
PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8894696 PMID:8956047 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16199547 PMID:16255772 PMID:17576681 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28179030 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30249571 PMID:30270055 PMID:30665623 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:31412917 PMID:32041611 PMID:32382506 PMID:6097111 PMID:8146180 More...
RGD:1600621 , RGD:1600620
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
G
Slc16a12
solute carrier family 16, member 12
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
G
Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis
ClinVar
PMID:7751811 PMID:7759067 PMID:8254026 PMID:8598644 PMID:8617513 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26350820 PMID:28492532 PMID:28502505 PMID:28502515 PMID:29196158 PMID:29958253 PMID:31182375 PMID:31392116 PMID:32041611 More...
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
G
Pnpla4
patatin like phospholipase domain containing 4
ISO
ClinVar Annotator: match by term: Recessive X-linked ichthyosis
ClinVar
PMID:3007328 PMID:7208152 PMID:18413370
NCBI chr X:42,313,554...42,318,451
Ensembl chr X:42,305,373...42,318,552
G
Pudp
pseudouridine 5'-phosphatase
ISO
ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis
ClinVar
PMID:3007328 PMID:7208152 PMID:18413370 PMID:31690835
NCBI chr18:43,878,374...43,880,756
Ensembl chr18:43,878,080...43,880,791
G
Sts
steroid sulfatase
ISO
ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 PMID:9252398 PMID:9623797 PMID:10679952 PMID:14641695 PMID:18413370 PMID:25741868 PMID:28492532 PMID:31690835 PMID:35822528 More...
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
G
Abcg5
ATP binding cassette subfamily G member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11138003
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
G
Ldlr
low density lipoprotein receptor
IMP
DNA:mutation:exon:478T > A(rat)
RGD
PMID:22293196
RGD:12910105
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Nlrp3
NLR family, pyrin domain containing 3
exacerbates
ISO
associated with atherosclerosis
RGD
PMID:30354239
RGD:126925206
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
G
Soat1
sterol O-acyltransferase 1
ISO
associated with atherosclerosis
RGD
PMID:30354239
RGD:126925206
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21155
Nutritional and Metabolic Diseases
8231
disease of metabolism
8231
lipid metabolism disorder
1732
2,4-Dienoyl-CoA Reductase Deficiency
2
APOLIPOPROTEIN A-II DEFICIENCY
1
Acetyl-Coa Carboxylase Deficiency
1
Apolipoprotein E, Deficiency or Defect of +
5
Barth syndrome +
62
CK syndrome
1
Congenital Lp(A) Deficiency
0
Cytosolic Acetoacetyl-CoA Thiolase Deficiency
1
Desmosterolosis
1
Dyslipidemias +
395
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets
1
Glycosylphosphatidylinositol Deficiency +
51
Hepatic Lipase Deficiency
1
Hypertriglyceridemia, Transient Infantile
1
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +
6
MEND syndrome
1
Myopathy with Abnormal Lipid Metabolism
2
Pancreatic Lipase Deficiency
1
Refsum disease +
81
Smith-Lemli-Opitz syndrome +
5
Triglyceride Storage Disease, Type I
0
Triglyceride Storage Disease, Type II
0
alpha-methylacyl-CoA racemase deficiency
10
carnitine palmitoyltransferase I deficiency
1
carnitine palmitoyltransferase II deficiency +
3
carnitine-acylcarnitine translocase deficiency
1
cerebrotendinous xanthomatosis
52
familial combined hyperlipidemia +
15
familial hyperlipidemia +
362
hypolipoproteinemia +
18
lipid storage disease +
827
lipodystrophy +
199
lipoid proteinosis
1
lipomatosis +
12
medium chain acyl-CoA dehydrogenase deficiency
9
multiple congenital anomalies-hypotonia-seizures syndrome +
33
peroxisomal acyl-CoA oxidase deficiency
2
rhizomelic chondrodysplasia punctate type 4
1
short chain acyl-CoA dehydrogenase deficiency
2
steroid inherited metabolic disorder +
59
syndromic X-linked intellectual disability type 10
1
very long chain acyl-CoA dehydrogenase deficiency
87
xanthomatosis +
58
Path 2
disease
21155
Developmental Disease
18469
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
18327
genetic disease
18271
inherited metabolic disorder
6208
lipid metabolism disorder
1732
2,4-Dienoyl-CoA Reductase Deficiency
2
APOLIPOPROTEIN A-II DEFICIENCY
1
Acetyl-Coa Carboxylase Deficiency
1
Apolipoprotein E, Deficiency or Defect of +
5
Barth syndrome +
62
CK syndrome
1
Congenital Lp(A) Deficiency
0
Cytosolic Acetoacetyl-CoA Thiolase Deficiency
1
Desmosterolosis
1
Dyslipidemias +
395
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets
1
Glycosylphosphatidylinositol Deficiency +
51
Hepatic Lipase Deficiency
1
Hypertriglyceridemia, Transient Infantile
1
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +
6
MEND syndrome
1
Myopathy with Abnormal Lipid Metabolism
2
Pancreatic Lipase Deficiency
1
Refsum disease +
81
Smith-Lemli-Opitz syndrome +
5
Triglyceride Storage Disease, Type I
0
Triglyceride Storage Disease, Type II
0
alpha-methylacyl-CoA racemase deficiency
10
carnitine palmitoyltransferase I deficiency
1
carnitine palmitoyltransferase II deficiency +
3
carnitine-acylcarnitine translocase deficiency
1
cerebrotendinous xanthomatosis
52
familial combined hyperlipidemia +
15
familial hyperlipidemia +
362
hypolipoproteinemia +
18
lipid storage disease +
827
lipodystrophy +
199
lipoid proteinosis
1
lipomatosis +
12
medium chain acyl-CoA dehydrogenase deficiency
9
multiple congenital anomalies-hypotonia-seizures syndrome +
33
peroxisomal acyl-CoA oxidase deficiency
2
rhizomelic chondrodysplasia punctate type 4
1
short chain acyl-CoA dehydrogenase deficiency
2
steroid inherited metabolic disorder +
59
syndromic X-linked intellectual disability type 10
1
very long chain acyl-CoA dehydrogenase deficiency
87
xanthomatosis +
58