RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | lipid metabolism disorder |
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Accession: | DOID:3146
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browse the term
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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.
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Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11138003 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6816881 |
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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 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18252231 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2332510 |
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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 |
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ISO |
desmosterolosis, OMIM:602398, Y471S, N294T, K306N |
RGD |
PMID:11519011 |
RGD:1600897 |
NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
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Hadhb |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17116638 |
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NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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Lep |
leptin |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1671786 PMID:1883393 PMID:15292318 |
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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 |
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ISO |
mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T |
RGD |
PMID:1377680 |
RGD:1600528 |
NCBI chr12:42,141,391...42,158,858
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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17878938 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22683713 |
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NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
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Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency | ClinVar Annotator: match by term: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency | ClinVar Annotator: match by term: Isolated 17,20-lyase deficiency |
ClinVar |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2786493 PMID:2843762 PMID:6976525 PMID:7629254 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:14671162 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16569739 PMID:16772352 PMID:16849412 PMID:17192295 PMID:17379008 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:25741868 PMID:26543560 PMID:26845730 PMID:27426448 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29595516 PMID:29858860 PMID:33753170 More...
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:17509588 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:28492532 PMID:30668521 PMID:32297288 More...
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24847004 PMID:25741868 PMID:27940755 PMID:28492532 PMID:29388319 PMID:33223529 More...
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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 |
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ISO |
DNA:missense mutations:cds:multiple (human) 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: 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) |
ClinVar OMIM RGD |
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8071315 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: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...
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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) |
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ISO |
ClinVar Annotator: match by term: Acanthocytosis |
ClinVar |
PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy |
ClinVar |
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8071315 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: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...
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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 |
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ISO |
ClinVar Annotator: match by term: ACACA DEFICIENCY | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 PMID:4539073 PMID:7633460 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:16648810 PMID:17689071 PMID:18252794 PMID:22343390 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:30668521 PMID:31006099 PMID:31611844 PMID:34055358 More...
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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 |
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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 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
OMIM ClinVar |
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:23572185 PMID:24172221 PMID:25640679 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 More...
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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 |
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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 |
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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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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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Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
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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 |
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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 |
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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 |
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ISO |
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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 |
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IEP |
protein:increased expression:serum: |
RGD |
PMID:21806828 |
RGD:9491781 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Ctsb |
cathepsin B |
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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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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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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 |
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ISO |
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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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Hamp |
hepcidin antimicrobial peptide |
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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 |
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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 |
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ISO |
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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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Pemt |
phosphatidylethanolamine N-methyltransferase |
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IEP |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18703563 |
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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 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19951287 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2 |
superoxide dismutase 2 |
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IEP |
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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 |
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IEP |
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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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Tlr4 |
toll-like receptor 4 |
severity |
ISO |
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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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Agxt2 |
alanine-glyoxylate aminotransferase 2 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
OMIM ClinVar |
PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:17576681 PMID:18032455 PMID:20558530 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:22987308 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,917,099...59,939,519
Ensembl chr 2:59,917,188...59,939,433
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G |
Dnajc21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
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G |
Prlr |
prolactin receptor |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
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G |
Rad1 |
RAD1 checkpoint DNA exonuclease |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,461,597...59,469,707
Ensembl chr 2:59,461,607...59,469,689
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G |
Rai14 |
retinoic acid induced 14 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,546,284...59,682,687
Ensembl chr 2:59,546,284...59,681,971
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G |
Slc45a2 |
solute carrier family 45, member 2 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:22987308 PMID:25741868 PMID:28492532 |
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NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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G |
Ttc23l |
tetratricopeptide repeat domain 23-like |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,476,666...59,538,313
Ensembl chr 2:59,476,669...59,538,282
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G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
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NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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G |
Cyp51 |
cytochrome P450, family 51 |
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ISO |
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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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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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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:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9462761 PMID:9605588 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:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 PMID:18391498 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 PMID:10633130 More...
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RGD:12801485 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14758361 PMID:15220035 PMID:16906539 PMID:27496950 |
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
OMIM ClinVar |
PMID:9360545 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 PMID:15483095 PMID:15793702 PMID:16470797 PMID:18551037 PMID:18559916 PMID:20124576 PMID:20188793 PMID:20940534 PMID:21070833 PMID:21741353 PMID:22162478 PMID:24847272 PMID:25741868 PMID:27068427 PMID:28492532 PMID:28841001 PMID:31837199 PMID:33666875 More...
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
OMIM ClinVar |
PMID:7558045 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: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:18391498 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:25157968 PMID:25271085 PMID:25741868 PMID:25759925 PMID:25867380 PMID:26362256 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Apoa2 |
apolipoprotein A2 |
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ISO |
ClinVar Annotator: match by term: Apolipoprotein A-II deficiency |
OMIM ClinVar |
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NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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G |
Apoc3 |
apolipoprotein C3 |
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ISO |
ClinVar Annotator: match by term: Apolipoprotein c-III deficiency |
OMIM ClinVar |
PMID:2022742 PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 PMID:28406212 PMID:28492532 More...
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NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
Apoe |
apolipoprotein E |
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ISO |
ClinVar Annotator: match by term: Apolipoprotein e, deficiency or defect of |
ClinVar |
PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:22992668 PMID:25741868 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: Apparent mineralocorticoid excess | ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:17314322 PMID:19075542 PMID:23303402 PMID:24123366 PMID:25526675 PMID:25593612 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33532864 More...
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NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15521956 |
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G |
Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency |
OMIM ClinVar |
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:9536098 PMID:15856305 PMID:17576681 PMID:17616409 PMID:20484222 PMID:25741868 PMID:26822237 PMID:28457694 PMID:28492532 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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G |
Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G |
Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29995202 PMID:31439510 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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G |
Aunip |
aurora kinase A and ninein interacting protein |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,722,157...146,736,233
Ensembl chr 5:146,722,337...146,736,501
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G |
Catsper4 |
cation channel, sperm associated 4 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,427,682...146,447,346
Ensembl chr 5:146,427,683...146,446,942
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G |
Cd52 |
CD52 molecule |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,319,789...146,321,348
Ensembl chr 5:146,319,969...146,321,348
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G |
Cep85 |
centrosomal protein 85 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,356,575...146,404,155
Ensembl chr 5:146,356,576...146,404,060
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G |
Cnksr1 |
connector enhancer of kinase suppressor of Ras 1 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,447,495...146,458,332
Ensembl chr 5:146,447,497...146,458,212
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G |
Crybg2 |
crystallin beta-gamma domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,286,406...146,318,417
Ensembl chr 5:146,286,925...146,323,666
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G |
Dhdds |
dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
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G |
Extl1 |
exostosin-like glycosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,573,911...146,589,115
Ensembl chr 5:146,573,912...146,589,115
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G |
Fam110d |
family with sequence similarity 110, member D |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,471,048...146,474,019
Ensembl chr 5:146,471,049...146,474,056
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G |
Ldlrap1 |
low density lipoprotein receptor adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
OMIM ClinVar |
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:24033266 PMID:25647241 PMID:25670367 PMID:25741868 PMID:25911074 PMID:26723464 PMID:27247956 PMID:28353356 PMID:28492532 PMID:28965616 PMID:29153781 PMID:29245109 PMID:30318064 PMID:31589614 PMID:32041611 PMID:32636080 PMID:32878475 PMID:33111339 PMID:33116287 PMID:34037665 More...
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NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
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G |
Lin28a |
lin-28 homolog A |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,227,119...146,244,122
Ensembl chr 5:146,227,119...146,244,122
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G |
Man1c1 |
mannosidase, alpha, class 1C, member 1 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421
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G |
Mtfr1l |
mitochondrial fission regulator 1-like |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,736,927...146,746,891
Ensembl chr 5:146,736,927...146,746,784
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G |
Pafah2 |
platelet-activating factor acetylhydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,607,050...146,636,203
Ensembl chr 5:146,613,498...146,634,943
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G |
Paqr7 |
progestin and adipoQ receptor family member 7 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,709,085...146,720,577
Ensembl chr 5:146,708,900...146,720,673
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G |
Pdik1l |
PDLIM1 interacting kinase 1 like |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,495,115...146,507,363
Ensembl chr 5:146,495,115...146,506,835
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G |
Selenon |
selenoprotein N |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
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G |
Sh3bgrl3 |
SH3 domain binding glutamate-rich protein like 3 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,354,152...146,355,525
Ensembl chr 5:146,354,152...146,355,331
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G |
Slc30a2 |
solute carrier family 30 member 2 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956
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G |
Stmn1 |
stathmin 1 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154
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G |
Trim63 |
tripartite motif containing 63 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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G |
Ubxn11 |
UBX domain protein 11 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526
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G |
Zfp593 |
zinc finger protein 593 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,462,670...146,464,998
Ensembl chr 5:146,462,670...146,465,198
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G |
Zfp683 |
zinc finger protein 683 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 |
ClinVar |
PMID:11326085 PMID:12464675 PMID:28492532 |
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NCBI chr 5:146,277,972...146,285,856
Ensembl chr 5:146,278,978...146,285,000
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9536098 PMID:11238270 PMID:15793838 PMID:16199547 PMID:16427346 PMID:17576681 PMID:19396829 PMID:22382802 PMID:22410210 PMID:23409742 PMID:24033266 PMID:25652404 PMID:25741868 PMID:26845103 PMID:28492532 PMID:31333075 PMID:31568572 More...
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Fkbp1a |
FKBP prolyl isomerase 1A |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
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G |
Mest |
mesoderm specific transcript |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9536098 PMID:10484795 PMID:11238270 PMID:11735032 PMID:12032589 PMID:12468278 PMID:12930833 PMID:14654353 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16873891 PMID:16880272 PMID:17394203 PMID:17576681 PMID:18430085 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:20530761 PMID:20812380 PMID:21300850 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23361305 PMID:23409742 PMID:23656970 PMID:24033266 PMID:24342716 PMID:24887148 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26724946 PMID:26845103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:29077208 PMID:29089047 PMID:29247119 PMID:31333075 PMID:31568572 PMID:34906502 More...
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Apoe |
apolipoprotein E |
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ISO |
ClinVar Annotator: match by term: Broad-betalipoproteinemia |
ClinVar |
PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:22992668 PMID:25741868 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Cpt1a |
carnitine palmitoyltransferase 1A |
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ISO |
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency |
OMIM 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:33845545 More...
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NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
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ISS ISO |
OMIM:255110 | OMIM:600649 | OMIM:608836 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 |
MouseDO 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:12200419 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: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: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:27629963 PMID:27974123 PMID:28074886 PMID:28492532 PMID:28516040 PMID:28529889 PMID:28600779 PMID:28649538 PMID:28779239 PMID:28801073 PMID:28871440 PMID:29478820 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30609409 PMID:31517061 PMID:32295037 PMID:32489884 PMID:33123633 PMID:33532864 PMID:34063237 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Czib |
CXXC motif containing zinc binding protein |
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ISO |
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency |
ClinVar |
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NCBI chr 5:122,648,333...122,657,767
Ensembl chr 5:122,648,411...122,656,910
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G |
Slc22a5 |
solute carrier family 22 member 5 |
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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: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 More...
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NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile |
OMIM 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:10734268 PMID:10862092 PMID:10873395 PMID:11477613 PMID:11855939 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: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:19762733 PMID:20301431 PMID:20543534 PMID:20661589 PMID:20810031 PMID:20934285 PMID:20952238 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22841441 PMID:22854105 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 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:26636822 PMID:27067077 PMID:27123472 PMID:27629963 PMID:27974123 PMID:28074886 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:29478820 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30609409 PMID:32295037 PMID:33123633 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal |
OMIM ClinVar |
PMID:736528 PMID:835844 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:10862092 PMID:10873395 PMID:11257506 PMID:11855939 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15622536 PMID:15642848 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16225172 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20810031 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22652984 PMID:22854105 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 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:27629963 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:29478820 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30609409 PMID:33123633 PMID:33532864 PMID:34063237 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Slc25a20 |
solute carrier family 25 member 20 |
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ISO |
ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency |
OMIM ClinVar |
PMID:1598097 PMID:9399886 PMID:9536098 PMID:9686371 PMID:10384384 PMID:10697964 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:24088670 PMID:25459972 PMID:25614308 PMID:25741868 PMID:26238931 PMID:27066551 PMID:28492532 PMID:31319225 PMID:31589614 PMID:32340404 More...
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NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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G |
Aamp |
angio-associated, migratory cell protein |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
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G |
Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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G |
Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469
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G |
Arpc2 |
actin related protein 2/3 complex, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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G |
Asic4 |
acid sensing ion channel subunit family member 4 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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G |
Atg9a |
autophagy related 9A |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Catip |
ciliogenesis associated TTC17 interacting protein |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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G |
Cdk5r2 |
cyclin-dependent kinase 5 regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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G |
Cfap65 |
cilia and flagella associated protein 65 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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G |
Chpf |
chondroitin polymerizing factor |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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G |
Cnot9 |
CCR4-NOT transcription complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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G |
Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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G |
Cryba2 |
crystallin, beta A2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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G |
Ctdsp1 |
CTD small phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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G |
Cxcr1 |
C-X-C motif chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,768,124...75,771,122
Ensembl chr 9:75,766,770...75,771,084
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
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ISO |
OMIM:213700, R446C, R362C ClinVar Annotator: match by term: Cholestanol storage disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2019602 PMID:7697869 PMID:7915755 PMID:8006521 PMID:8014582 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: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:27858369 PMID:27878435 PMID:27879219 PMID:27884173 PMID:28337550 PMID:28492532 PMID:28590052 PMID:28623566 PMID:28749476 PMID:28894950 PMID:28937538 PMID:29095540 PMID:29242796 PMID:29269672 PMID:29321515 PMID:29434128 PMID:30366773 PMID:31450232 PMID:31743419 PMID:31796091 PMID:32581172 PMID:32714376 PMID:33313117 PMID:33400472 PMID:33830582 PMID:2019602 More...
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RGD:1600872 |
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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G |
Des |
desmin |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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G |
Dnpep |
aspartyl aminopeptidase |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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G |
Fev |
FEV transcription factor, ETS family member |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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G |
Glb1l |
galactosidase, beta 1-like |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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G |
Gmppa |
GDP-mannose pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Mir26b |
microRNA 26b |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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G |
Mir375 |
microRNA 375 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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G |
Nhej1 |
nonhomologous end-joining factor 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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G |
Obsl1 |
obscurin like cytoskeletal adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
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Plcd4 |
phospholipase C, delta 4 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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G |
Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 |
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NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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G |
Ptprn |
protein tyrosine phosphatase, receptor type, N |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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G |
Resp18 |
regulated endocrine-specific protein 18 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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G |
Retreg2 |
reticulophagy regulator family member 2 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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G |
Rnf25 |
ring finger protein 25 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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G |
Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Slc23a3 |
solute carrier family 23, member 3 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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G |
Stk16 |
serine/threonine kinase 16 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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G |
Stk36 |
serine/threonine kinase 36 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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G |
Tmbim1 |
transmembrane BAX inhibitor motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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G |
Tmem198 |
transmembrane protein 198 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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G |
Ttll4 |
tubulin tyrosine ligase like 4 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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G |
Tuba4a |
tubulin, alpha 4A |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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G |
Usp37 |
ubiquitin specific peptidase 37 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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G |
Vil1 |
villin 1 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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G |
Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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G |
Wnt6 |
Wnt family member 6 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 |
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NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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G |
Zfand2b |
zinc finger AN1-type containing 2B |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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G |
Zfp142 |
zinc finger protein 142 |
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ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D |
OMIM ClinVar |
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 PMID:17470135 PMID:17576681 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 More...
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Lipa |
lipase A, lysosomal acid type |
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ISO |
ClinVar Annotator: match by term: Cholesteryl ester storage disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
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:23424026 PMID:23485521 PMID:24072694 PMID:24295952 PMID:25722898 PMID:25741868 PMID:26225414 PMID:26252914 PMID:28492532 PMID:28502505 PMID:28881270 PMID:30684275 PMID:31182375 PMID:31230978 PMID:6097111 More...
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RGD:1600621 |
NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
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G |
Tspo |
translocator protein |
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IMP |
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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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G |
Tspoem1Vpl |
translocator protein; ZFN induced mutant1, Vpl |
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IMP |
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RGD |
PMID:29074640 |
RGD:150429771 |
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G |
Tspoem2Vpl |
translocator protein; ZFN induced mutant2, Vpl |
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IMP |
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RGD |
PMID:29074640 |
RGD:150429771 |
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G |
Dcdc2 |
doublecortin domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Chylomicron retention disease |
ClinVar |
PMID:25741868 PMID:27469900 |
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NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
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G |
Pitpna |
phosphatidylinositol transfer protein, alpha |
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ISS |
OMIM:246700 |
MouseDO |
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NCBI chr10:60,430,712...60,473,564
Ensembl chr10:60,430,748...60,471,342
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G |
Sar1b |
secretion associated, Ras related GTPase 1B |
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ISO |
ClinVar Annotator: match by term: Chylomicron retention disease |
OMIM ClinVar |
PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr10:36,024,443...36,054,067
Ensembl chr10:36,024,382...36,054,066
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: CK syndrome |
OMIM ClinVar |
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 |
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Cdh23 |
cadherin-related 23 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G |
Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
OMIM ClinVar |
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 PMID:10196694 PMID:11309366 PMID:16199547 PMID:17576681 PMID:17616409 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26831127 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 More...
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NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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G |
Avpr1a |
arginine vasopressin receptor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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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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G |
Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
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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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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISS ISO |
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
MouseDO ClinVar |
PMID:8506298 PMID:9302260 PMID:9546661 PMID:12452430 PMID:15026188 PMID:15062555 PMID:16046588 PMID:16670167 PMID:17371482 PMID:20089618 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26467025 PMID:26476331 PMID:26956189 PMID:27316665 PMID:28492532 PMID:29626607 PMID:33785438 PMID:33830237 More...
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NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISS |
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 |
MouseDO |
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NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8396144 PMID:9326943 PMID:9601054 PMID:11549685 PMID:12466376 PMID:14715827 PMID:14747197 PMID:18645707 PMID:19636199 PMID:25741868 PMID:28492532 PMID:31636948 PMID:33864926 PMID:2026124 More...
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RGD:4889141 |
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Cyp21a1 |
cytochrome P450, family 21, subfamily a, polypeptide 1 |
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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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G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
CTD ClinVar |
PMID:7633460 PMID:8060486 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10973654 PMID:11196452 PMID:12050224 PMID:18252794 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30668521 PMID:34055358 More...
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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G |
Htr4 |
5-hydroxytryptamine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
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G |
Pde8b |
phosphodiesterase 8B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18272904 |
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NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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G |
Por |
cytochrome p450 oxidoreductase |
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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:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:17635179 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:22162478 PMID:22462747 PMID:23365120 PMID:27068427 PMID:17505056 More...
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RGD:4889128 |
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15521956 |
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Ren |
renin |
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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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G |
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:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:14764819 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 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:8634702 PMID:9326645 More...
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RGD:1600070, RGD:4145592 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Tnxb |
tenascin XB |
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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: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: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:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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G |
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: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency |
OMIM ClinVar |
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 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:15026188 PMID:15062555 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16199547 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17296872 PMID:17371482 PMID:17576681 PMID:17692261 PMID:17726333 PMID:18663314 PMID:19204079 PMID:19820005 PMID:20024693 PMID:20089618 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:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28962970 PMID:29626607 PMID:29858860 PMID:31006099 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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Igfals |
insulin-like growth factor binding protein, acid labile subunit |
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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 |
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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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Por |
cytochrome p450 oxidoreductase |
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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:28492532 PMID:33666875 More...
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Tnxb |
tenascin XB |
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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:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID:19204079 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: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:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA V | ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 |
OMIM ClinVar |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2786493 PMID:2843762 PMID:8245018 PMID:8287576 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9892022 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715827 PMID:14747197 PMID:15844475 PMID:16121340 PMID:16199547 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16849412 PMID:17192295 PMID:17379008 PMID:18422032 PMID:19470621 PMID:19636199 PMID:19728179 PMID:20170344 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:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:29278670 PMID:29595516 PMID:29858860 PMID:30229581 PMID:33753170 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 |
OMIM ClinVar |
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:28492532 |
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NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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Akr1d1 |
aldo-keto reductase family 1, member D1 |
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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:19175828 PMID:20522910 PMID:21185810 PMID:23679950 PMID:25304492 PMID:25741868 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 |
OMIM ClinVar |
PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21623769 PMID:23812641 PMID:24117163 PMID:24641183 PMID:25741868 PMID:28492532 PMID:29980238 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
OMIM 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...
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 |
OMIM ClinVar |
PMID:25168382 PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 |
OMIM ClinVar |
PMID:25741868 PMID:27647924 PMID:27884763 PMID:28492532 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized lipodystrophy |
CTD ClinVar RGD |
PMID:19187773 |
RGD:10047097 |
NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes |
CTD ClinVar |
PMID:11479539 PMID:18093937 PMID:23564749 PMID:25741868 PMID:26282322 PMID:26467025 PMID:28492532 More...
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NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 |
OMIM ClinVar |
PMID:11967537 PMID:12765973 PMID:14557463 PMID:14715872 PMID:15181077 PMID:15629135 PMID:18640396 PMID:19026526 PMID:21744063 PMID:22831748 PMID:24498038 PMID:25195639 PMID:25741868 PMID:26336158 PMID:27144933 PMID:28492532 More...
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NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes |
OMIM ClinVar |
PMID:11479539 PMID:11916958 PMID:12030893 PMID:15126564 PMID:18057387 PMID:18093937 PMID:19041432 PMID:19226263 PMID:23564749 PMID:23963299 PMID:23989774 PMID:25588603 PMID:25741868 PMID:26282322 PMID:26467025 PMID:27144933 PMID:27612026 PMID:28492532 PMID:30903322 PMID:31770241 More...
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NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Pparg |
peroxisome proliferator-activated receptor gamma |
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ISS |
OMIM:269700 |
MouseDO |
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3 |
OMIM ClinVar |
PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 |
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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 |
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ISO |
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 |
OMIM ClinVar |
PMID:12116229 PMID:18698612 PMID:19726876 PMID:20300641 PMID:20684003 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Adk |
adenosine kinase |
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ISO |
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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) |
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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 |
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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) |
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ISO |
ClinVar Annotator: match by term: Cortisone reductase deficiency 1 |
OMIM ClinVar |
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Cortisone reductase deficiency 2 |
OMIM ClinVar |
PMID:21325058 PMID:25741868 |
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NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
OMIM ClinVar |
PMID:9360545 PMID:9536098 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15483095 PMID:15793702 PMID:16199547 PMID:16467261 PMID:16470797 PMID:17576681 PMID:17635179 PMID:17827787 PMID:18230729 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:22462747 PMID:23365120 PMID:24847272 PMID:25712184 PMID:25741868 PMID:26670660 PMID:27068427 PMID:28492532 PMID:28731962 PMID:28841001 PMID:31669572 PMID:33666875 More...
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Tmem120a |
transmembrane protein 120A |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency |
OMIM ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: DBP deficiency |
ClinVar |
PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 |
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NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
severity |
ISO |
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency DNA:mutations:multiple (human) |
ClinVar 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:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27650058 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28830375 PMID:28973083 PMID:30396834 PMID:31455392 PMID:9345094 PMID:16385454 More...
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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 |
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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 More...
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NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
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Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 |
OMIM ClinVar |
PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 |
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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 |
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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 |
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NCBI chr11:33,682,943...33,689,071
Ensembl chr11:33,682,948...33,689,321
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Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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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 More...
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NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
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Ccpg1 |
cell cycle progression 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 |
ClinVar |
PMID:28492532 PMID:31256876 |
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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 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 |
OMIM ClinVar |
PMID:17343268 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31256876 |
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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 |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 |
OMIM ClinVar |
PMID:25741868 PMID:30269814 PMID:33410539 |
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NCBI chr10:63,222,611...63,237,190
Ensembl chr10:63,222,572...63,237,187
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Apoe |
apolipoprotein E |
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ISO |
ClinVar Annotator: match by term: Dysbetalipoproteinemia due to defect in apolipoprotein e-d |
ClinVar |
PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:22992668 PMID:25741868 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19060911 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21890736 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Angptl4 |
angiopoietin-like 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17322881 |
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NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
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G |
Apob |
apolipoprotein B |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18230960 |
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NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25037058 PMID:32853627 |
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17303181 |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Bcl3 |
BCL3, transcription coactivator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29670124 |
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NCBI chr 1:79,471,368...79,485,908
Ensembl chr 1:79,471,369...79,485,607
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G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19060911 |
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Klf14 |
Kruppel-like factor 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29632379 |
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NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
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G |
Ldlr |
low density lipoprotein receptor |
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ISO IMP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20530721 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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G |
Ldlrem1 |
low density lipoprotein receptor; ZFN induced mutant 1 |
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IMP |
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RGD |
PMID:27378433 |
RGD:12910104 |
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G |
Lep |
leptin |
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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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G |
Lepr |
leptin receptor |
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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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G |
Leprem4Lizh |
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh |
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IMP |
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RGD |
PMID:26537785 |
RGD:12911216 |
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G |
Lipc |
lipase C, hepatic type |
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ISO |
ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 12 | ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 |
OMIM ClinVar |
PMID:15292318 PMID:18364377 PMID:25741868 |
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NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Lpl |
lipoprotein lipase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17952847 |
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NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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G |
Maco1 |
macoilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19060911 |
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NCBI chr 5:147,012,416...147,075,265
Ensembl chr 5:147,012,867...147,075,001
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G |
Nadsyn1 |
NAD synthetase 1 |
susceptibility |
ISO |
DNA:SNP: :rs12785878 G>T(human) |
RGD |
PMID:24073860 |
RGD:13703112 |
NCBI chr 1:198,981,559...199,009,806
Ensembl chr 1:198,981,604...199,009,869
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G |
Nectin2 |
nectin cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29670124 |
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NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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G |
Neil1 |
nei-like DNA glycosylase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16446448 |
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NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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G |
Nr5a2 |
nuclear receptor subfamily 5, group A, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29515023 |
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NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
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G |
Pex11a |
peroxisomal biogenesis factor 11 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30585412 |
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NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172
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G |
Pltp |
phospholipid transfer protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17952847 |
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NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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G |
Pml |
PML nuclear body scaffold |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16168052 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16168052 |
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NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Rara |
retinoic acid receptor, alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142
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G |
Scarb1 |
scavenger receptor class B, member 1 |
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ISO |
ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 |
OMIM ClinVar |
PMID:21226579 PMID:21480869 PMID:25741868 PMID:26965621 PMID:28492532 |
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NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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G |
Tlr2 |
toll-like receptor 2 |
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IGI |
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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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G |
Tomm40 |
translocase of outer mitochondrial membrane 40 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29670124 |
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NCBI chr 1:79,358,781...79,370,976
Ensembl chr 1:79,358,786...79,370,915
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G |
Vnn1 |
vanin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17873875 |
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NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis |
OMIM ClinVar |
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:28492532 PMID:33448156 More...
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Kras |
KRAS proto-oncogene, GTPase |
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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: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: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: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:26619011 PMID:26623049 PMID:26970110 PMID:28492532 PMID:29298116 PMID:30289595 PMID:30443000 PMID:30891959 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Ace |
angiotensin I converting enzyme |
treatment |
ISO |
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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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G |
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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G |
Ar |
androgen receptor |
treatment |
ISO |
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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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G |
Gla |
galactosidase, alpha |
|
ISO IMP |
DNA:point mutation:exon:R356W ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 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:7911050 PMID:7951217 PMID:8069316 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8807334 PMID:8834244 PMID:8863162 PMID:8875188 PMID:8878432 PMID:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9395081 PMID:9452068 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10845698 PMID:10916280 PMID:11076046 PMID:11137837 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: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: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:15924232 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16754800 PMID:16773563 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17452128 PMID:17532296 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 PMID:17804462 PMID:18023222 PMID:18046674 PMID:18057066 PMID:18154965 PMID:18205205 PMID:18287059 PMID:18297328 PMID:18387337 PMID:18424138 PMID:18565198 PMID:18596132 PMID:18633574 PMID:18698230 PMID:18724168 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:21062768 PMID:21092187 PMID:21138548 PMID:21229318 PMID:21333496 PMID:21353612 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:22378313 PMID:22406018 PMID:22437327 PMID:22472932 PMID:22551898 PMID:22563919 PMID:22682330 PMID:22695894 PMID:22773828 PMID:22805550 PMID:22874111 PMID:22905681 PMID:23109060 PMID:23146289 PMID:23219219 PMID:23248976 PMID:23305247 PMID:23306324 PMID:23307880 PMID:23332617 PMID:23378663 PMID:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23608164 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23818648 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:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25511234 PMID:25525159 PMID:25531941 PMID:25596309 PMID:25611685 PMID:25619383 PMID:25637381 PMID:25663229 PMID:25741868 PMID:25795794 PMID:25835592 PMID:25900714 PMID:25955246 PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 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:26631895 PMID:26652600 PMID:26691501 PMID:26866599 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:27896102 PMID:27896103 PMID:27916943 PMID:27931613 PMID:27979989 PMID:27992580 PMID:28082092 PMID:28253518 PMID:28275245 PMID:28276057 PMID:28299312 PMID:28302345 PMID:28340804 PMID:28360401 PMID:28377241 PMID:28389313 PMID:28409012 PMID:28430823 PMID:28492532 PMID:28500230 PMID:28596458 PMID:28615118 PMID:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28798024 PMID:28799081 PMID:28877708 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29019163 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29132836 PMID:29186537 PMID:29203563 PMID:29215092 PMID:29247119 PMID:29307789 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:29770213 PMID:29794742 PMID:29853467 PMID:29867742 PMID:29875425 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30662066 PMID:30677769 PMID:30715505 PMID:30739116 PMID:30762167 PMID:30773290 PMID:30804731 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31291414 PMID:31319156 PMID:31372342 PMID:31392112 PMID:31449323 PMID:31566927 PMID:31620600 PMID:31650418 PMID:31654629 PMID:31664448 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32036093 PMID:32042454 PMID:32099817 PMID:32109691 PMID:32150461 PMID:32161151 PMID:32246457 PMID:32306159 PMID:32418857 PMID:32435590 PMID:32442237 PMID:32486191 PMID:32531501 PMID:32699723 PMID:32714835 PMID:32793709 PMID:32797665 PMID:32860008 PMID:32901917 PMID:33016649 PMID:33495303 PMID:33527381 PMID:33543778 PMID:33545641 PMID:33907643 PMID:34270679 PMID:2539398 PMID:29563343 More...
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RGD:1601350, RGD:150429980 |
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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G |
Glaem2Mcwi |
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin |
|
IMP |
compared to wild type |
RGD |
PMID:29563343 |
RGD:150429980 |
|
|
G |
Hnrnph2 |
heterogeneous nuclear ribonucleoprotein H2 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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|
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 |
LOC100910714 |
60S ribosomal protein L36a-like |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 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:7911050 PMID:7951217 PMID:8069316 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8807334 PMID:8834244 PMID:8863162 PMID:8875188 PMID:8878432 PMID:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9395081 PMID:9452068 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10845698 PMID:10916280 PMID:11076046 PMID:11137837 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: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: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:15924232 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16754800 PMID:16773563 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17452128 PMID:17532296 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 PMID:17804462 PMID:18023222 PMID:18046674 PMID:18057066 PMID:18154965 PMID:18205205 PMID:18287059 PMID:18297328 PMID:18387337 PMID:18424138 PMID:18596132 PMID:18633574 PMID:18698230 PMID:18724168 PMID:18830871 PMID:18849176 PMID:18974770 PMID:19265719 PMID:19285316 PMID:19287194 PMID:19320660 PMID:19373884 PMID:19387866 PMID:19621417 PMID:19823873 PMID:19941952 PMID:20022777 PMID:20031620 PMID:20110537 PMID:20122163 PMID:20139917 PMID:20300124 PMID:20360539 PMID:20367968 PMID:20464614 PMID:20498269 PMID:20505683 PMID:20615758 PMID:20628902 PMID:20629180 PMID:20716442 PMID:20821055 PMID:21062768 PMID:21092187 PMID:21138548 PMID:21229318 PMID:21333496 PMID:21353612 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:22378313 PMID:22437327 PMID:22472932 PMID:22551898 PMID:22563919 PMID:22682330 PMID:22695894 PMID:22773828 PMID:22805550 PMID:22874111 PMID:22905681 PMID:23109060 PMID:23146289 PMID:23219219 PMID:23248976 PMID:23305247 PMID:23306324 PMID:23307880 PMID:23332617 PMID:23378663 PMID:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23608164 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23818648 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:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25511234 PMID:25525159 PMID:25531941 PMID:25596309 PMID:25611685 PMID:25619383 PMID:25637381 PMID:25663229 PMID:25741868 PMID:25795794 PMID:25835592 PMID:25900714 PMID:25955246 PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 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:26631895 PMID:26652600 PMID:26691501 PMID:26866599 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:27896102 PMID:27896103 PMID:27916943 PMID:27931613 PMID:27979989 PMID:27992580 PMID:28082092 PMID:28253518 PMID:28275245 PMID:28276057 PMID:28299312 PMID:28302345 PMID:28340804 PMID:28360401 PMID:28377241 PMID:28389313 PMID:28409012 PMID:28430823 PMID:28492532 PMID:28500230 PMID:28596458 PMID:28615118 PMID:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28798024 PMID:28799081 PMID:28877708 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29019163 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29132836 PMID:29186537 PMID:29203563 PMID:29215092 PMID:29247119 PMID:29307789 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:29770213 PMID:29794742 PMID:29853467 PMID:29867742 PMID:29875425 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30662066 PMID:30677769 PMID:30715505 PMID:30739116 PMID:30762167 PMID:30773290 PMID:30804731 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31291414 PMID:31319156 PMID:31372342 PMID:31392112 PMID:31449323 PMID:31566927 PMID:31620600 PMID:31650418 PMID:31654629 PMID:31664448 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32036093 PMID:32042454 PMID:32099817 PMID:32109691 PMID:32150461 PMID:32161151 PMID:32246457 PMID:32306159 PMID:32418857 PMID:32435590 PMID:32442237 PMID:32486191 PMID:32531501 PMID:32699723 PMID:32714835 PMID:32793709 PMID:32797665 PMID:32901917 PMID:33016649 PMID:33495303 PMID:33527381 PMID:33543778 PMID:33545641 PMID:33907643 PMID:34270679 More...
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NCBI chr13:4,300,010...4,300,535
Ensembl chr13:4,300,026...4,300,388
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G |
Mylk2 |
myosin light chain kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:28492532 |
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NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
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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
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G |
Gla |
galactosidase, alpha |
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ISO |
ClinVar Annotator: match by term: Fabry disease, cardiac variant |
ClinVar |
PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:15702404 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:25382311 PMID:25611685 PMID:25741868 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27585509 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:28728877 PMID:29215092 PMID:29875425 PMID:30662066 PMID:30804731 PMID:31200018 More...
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NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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G |
LOC100910714 |
60S ribosomal protein L36a-like |
|
ISO |
ClinVar Annotator: match by term: Fabry disease, cardiac variant |
ClinVar |
PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:15702404 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:25382311 PMID:25611685 PMID:25741868 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27585509 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:28728877 PMID:29215092 PMID:29875425 PMID:30662066 PMID:30804731 PMID:31200018 More...
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NCBI chr13:4,300,010...4,300,535
Ensembl chr13:4,300,026...4,300,388
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G |
Apoa5 |
apolipoprotein A5 |
|
ISO |
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OMIM |
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NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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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:25741868 PMID:28492532 PMID:33116287 More...
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NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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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
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G |
Alpl |
alkaline phosphatase, biomineralization associated |
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ISO |
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RGD |
PMID:16336518 |
RGD:1601173 |
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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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
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G |
Apob |
apolipoprotein B |
|
ISO |
protein:increased expression:plasma 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:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 PMID:1466657 PMID:1493642 PMID:1600334 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: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:14732481 PMID:15135245 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:21059979 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 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:24784157 PMID:24956927 PMID:24987033 PMID:25461735 PMID:25741868 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26415676 PMID:26467025 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26802169 PMID:27153395 PMID:27206935 PMID:27497240 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28166811 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28895539 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29555771 PMID:29572815 PMID:29598884 PMID:30030251 PMID:30056620 PMID:30122538 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 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:31447099 PMID:32719484 PMID:33207932 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33740630 PMID:34037665 PMID:16797745 More...
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RGD:1601200 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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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
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G |
Apoe |
apolipoprotein E |
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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
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G |
Faslg |
Fas ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15063428 |
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NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Hnf4a |
hepatocyte nuclear factor 4, alpha |
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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
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G |
Lipc |
lipase C, hepatic type |
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ISO |
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RGD |
PMID:16338252 |
RGD:1580512 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Lpl |
lipoprotein lipase |
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ISO |
ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to |
OMIM ClinVar |
PMID:1351946 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 PMID:1512512 PMID:1598907 PMID:1674945 PMID:1702428 PMID:1752947 PMID:1872917 PMID:1969408 PMID:1975597 PMID:2038366 PMID:2394828 PMID:2914262 PMID:6645961 PMID:7607318 PMID:7647785 PMID:7753827 PMID:7906986 PMID:8099055 PMID:8199176 PMID:8541837 PMID:8732773 PMID:8808493 PMID:8872057 PMID:9401010 PMID:9550358 PMID:10364086 PMID:10517255 PMID:11260209 PMID:11334614 PMID:11893776 PMID:12839295 PMID:12905705 PMID:15877202 PMID:16199547 PMID:16278884 PMID:16972177 PMID:17717288 PMID:18068174 PMID:18350203 PMID:18922999 PMID:19335919 PMID:20650961 PMID:21146168 PMID:21159338 PMID:22095987 PMID:22239554 PMID:22691586 PMID:23212406 PMID:23484243 PMID:24033266 PMID:24366202 PMID:24503134 PMID:24507774 PMID:24627108 PMID:24747307 PMID:24793350 PMID:25741868 PMID:25966443 PMID:26156051 PMID:26337181 PMID:26975783 PMID:27055971 PMID:27142713 PMID:27573733 PMID:28008009 PMID:28267856 PMID:28438574 PMID:28492532 PMID:28502509 PMID:28951076 PMID:29054425 PMID:29153744 PMID:29288010 PMID:29431110 PMID:29748148 PMID:30150141 PMID:30210108 PMID:31589614 PMID:31619059 PMID:32041611 PMID:32472350 PMID:33217533 PMID:33303402 More...
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NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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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
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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
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G |
Usf1 |
upstream transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to |
CTD ClinVar |
PMID:14991056 PMID:16076849 |
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NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
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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
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G |
Gpihbp1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D |
OMIM ClinVar |
PMID:19304573 PMID:20026666 PMID:20124439 PMID:21816778 PMID:22239554 PMID:23806086 PMID:24088041 PMID:24614124 PMID:25387803 PMID:25741868 PMID:28492532 PMID:30352774 PMID:33223529 More...
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NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702
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G |
Apoe |
apolipoprotein E |
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ISO |
ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia |
ClinVar |
PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:22992668 PMID:25741868 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Baat |
bile acid CoA:amino acid N-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Hypercholanemia, familial |
ClinVar |
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NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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G |
Ephx1 |
epoxide hydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12878321 |
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NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
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G |
Tjp2 |
tight junction protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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G |
Baat |
bile acid CoA:amino acid N-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Hypercholanemia, familial 1 |
ClinVar |
PMID:17495420 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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G |
Ephx1 |
epoxide hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Hypercholanemia, familial 1 |
ClinVar |
PMID:25326635 PMID:25741868 |
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NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
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G |
Tjp2 |
tight junction protein 2 |
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ISO |
ClinVar Annotator: match by term: Hypercholanemia, familial 1 |
OMIM ClinVar |
PMID:12704386 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28924228 PMID:29238877 More...
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NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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G |
Slc10a1 |
solute carrier family 10 member 1 |
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ISO |
ClinVar Annotator: match by term: Hypercholanemia, familial, 2 |
OMIM ClinVar |
PMID:14660639 PMID:25418280 PMID:27882152 PMID:28835676 PMID:29658451 |
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NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypercholesterolemia |
ClinVar |
PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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G |
Apoa2 |
apolipoprotein A2 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 |
OMIM ClinVar |
PMID:12522687 |
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NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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G |
Apob |
apolipoprotein B |
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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: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia |
ClinVar RGD |
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:2725600 PMID:2843815 PMID:2903181 PMID:3477815 PMID:3771801 PMID:7627691 PMID:7670940 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:11941481 PMID:12031600 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:21059979 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21408211 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:24784157 PMID:24956927 PMID:24987033 PMID:25461735 PMID:25741868 PMID:25741869 PMID:26020417 PMID:26036859 PMID:26064709 PMID:26332594 PMID:26361156 PMID:26415676 PMID:26467025 PMID:26636822 PMID:26643808 PMID:26666465 PMID:26802169 PMID:27153395 PMID:27206935 PMID:27497240 PMID:27578127 PMID:27654142 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27831900 PMID:27872105 PMID:27884173 PMID:27919364 PMID:27932355 PMID:28008009 PMID:28104544 PMID:28166811 PMID:28428224 PMID:28431867 PMID:28475941 PMID:28492532 PMID:28895539 PMID:28958330 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29261184 PMID:29284604 PMID:29290422 PMID:29353225 PMID:29386597 PMID:29555771 PMID:29572815 PMID:29598884 PMID:30030251 PMID:30056620 PMID:30076208 PMID:30122538 PMID:30217213 PMID:30270084 PMID:30270359 PMID:30291343 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:31447099 PMID:32719484 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33740630 PMID:34037665 PMID:3627182 More...
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RGD:11527221 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Apoe |
apolipoprotein E |
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IMP |
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RGD |
PMID:29166645 |
RGD:150520219 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Apoeem1Ejt |
apolipoprotein E; TALEN induced mutant 1, Ejt |
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IMP |
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RGD |
PMID:29166645 |
RGD:150520219 |
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G |
Apoeem1Sage |
apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
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IMP |
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RGD |
PMID:29166645 |
RGD:150520219 |
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G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypercholesterolemia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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G |
Dnm2 |
dynamin 2 |
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ISO |
ClinVar Annotator: match by term: Familial hypercholesterolemia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 |
ClinVar |
PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 PMID:25741868 More...
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NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Ephx2 |
epoxide hydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 |
OMIM ClinVar |
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 PMID:25741868 More...
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NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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G |
Ghr |
growth hormone receptor |
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ISO |
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 |
OMIM ClinVar |
PMID:7565946 PMID:8504296 PMID:17462934 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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G |
Gk |
glycerol kinase |
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IDA |
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RGD |
PMID:10642898 |
RGD:13702898 |
NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
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G |
Ldlr |
low density lipoprotein receptor |
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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 |
OMIM ClinVar |
PMID:200368 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:1446662 PMID:1453433 PMID:1463746 PMID:1464748 PMID:1493640 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:1978630 PMID:1978682 PMID:1998642 PMID:1999337 PMID:2029498 PMID:2088165 PMID:2318961 PMID:2324680 PMID:2352257 PMID:2544509 PMID:2565980 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:3282918 PMID:3343347 PMID:3391282 PMID:3425583 PMID:3430554 PMID:3472763 PMID:3475071 PMID:3495735 PMID:3549308 PMID:3572996 PMID:3627182 PMID:3815525 PMID:3818645 PMID:3924410 PMID:3955657 PMID:4061492 PMID:4083361 PMID:4319990 PMID:4750422 PMID:6091915 PMID:6272292 PMID:6288770 PMID:6324732 PMID:7489239 PMID:7545204 PMID:7548065 PMID:7550239 PMID:7557960 PMID:7573037 PMID:7581403 PMID:7583548 PMID:7586640 PMID:7603991 PMID:7606846 PMID:7616128 PMID:7635461 PMID:7635482 PMID:7649546 PMID:7649549 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:8347689 PMID:8399083 PMID:8401534 PMID:8409767 PMID:8462973 PMID:8478013 PMID:8535447 PMID:8568489 PMID:8589690 PMID:8599353 PMID:8634338 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: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: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:9727746 PMID:9733232 PMID:9763532 PMID:9767373 PMID:9852677 PMID:9889019 PMID:9925649 PMID:9974426 PMID:10066037 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: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:10782930 PMID:10790219 PMID:10807540 PMID:10882754 PMID:10884919 PMID:10924730 PMID:10926901 PMID:10978268 PMID:10980548 PMID:11005141 PMID:11013454 PMID:11031227 PMID:11040093 PMID:11052664 PMID:11139254 PMID:11194025 PMID:11194027 PMID:11196104 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:11472756 PMID:11491306 PMID:11506462 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:12009418 PMID:12052488 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: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:16465405 PMID:16466730 PMID:16502360 PMID:16530458 PMID:16542394 PMID:16627557 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:17399720 PMID:17406740 PMID:17426749 PMID:17445538 PMID:17539906 PMID:17576681 PMID:17625505 PMID:17673191 PMID:17694954 PMID:17765246 PMID:17935672 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: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:19602640 PMID:19674976 PMID:19717150 PMID:19763152 PMID:19797716 PMID:19837725 PMID:19843101 PMID:20018285 PMID:20019594 PMID:20030366 PMID:20045108 PMID:20089850 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:21115573 PMID:21145767 PMID:21146822 PMID:21157333 PMID:21252755 PMID:21276076 PMID:21310417 PMID:21376320 PMID:21382890 PMID:21418584 PMID:21457052 PMID:21475731 PMID:21511053 PMID:21531209 PMID:21538688 PMID:21642693 PMID:21722902 PMID:21865347 PMID:21868016 PMID:21872251 PMID:21925044 PMID:21925660 PMID:21935675 PMID:21955034 PMID:21990180 PMID:22079632 PMID:22081141 PMID:22089669 PMID:22095935 PMID:22129472 PMID:22160468 PMID:22220933 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:22683370 PMID:22691586 PMID:22698793 PMID:22859806 PMID:22881376 PMID:22883975 PMID:22910581 PMID:22923420 PMID:22998978 PMID:23021490 PMID:23054246 PMID:23064986 PMID:23130880 PMID:23155708 PMID:23158915 PMID:23340035 PMID:23345538 PMID:23369702 PMID:23375686 PMID:23415438 PMID:23430853 PMID:23510778 PMID:23535506 PMID:23537714 PMID:23669246 PMID:23680767 PMID:23815734 PMID:23820649 PMID:23833242 PMID:24014831 PMID:24033266 PMID:24055113 PMID:24075752 PMID:24082139 PMID:24088637 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:24585268 PMID:24627126 PMID:24671153 PMID:24722143 PMID:24785115 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:25412742 PMID:25414273 PMID:25437892 PMID:25461735 PMID:25463123 PMID:25487149 PMID:25525159 PMID:25545329 PMID:25606447 PMID:25624525 PMID:25637381 PMID:25640679 PMID:25647241 PMID:25682026 PMID:25682442 PMID:25741862 PMID:25741868 PMID:25741870 PMID:25741871 PMID:25741872 PMID:25741873 PMID:25741874 PMID:25775905 PMID:25781017 PMID:25807990 PMID:25839937 PMID:25846081 PMID:25911074 PMID:25921077 PMID:25936317 PMID:25936346 PMID:25962062 PMID:26020417 PMID:26036859 PMID:26046366 PMID:26077743 PMID:26081744 PMID:26220972 PMID:26238499 PMID:26298359 PMID:26327206 PMID:26332594 PMID:26342331 PMID:26343872 PMID:26361156 PMID:26415676 PMID:26433113 PMID:26467025 PMID:26510755 PMID:26608663 PMID:26632531 PMID:26633542 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:27050191 PMID:27135400 PMID:27153395 PMID:27175606 PMID:27206935 PMID:27247956 PMID:27294413 PMID:27497240 PMID:27542166 PMID:27578104 PMID:27578127 PMID:27578128 PMID:27678436 PMID:27680772 PMID:27765764 PMID:27783906 PMID:27784735 PMID:27816806 PMID:27821657 PMID:27824480 PMID:27828139 PMID:27830735 PMID:27831900 PMID:27854218 PMID:27878139 PMID:27884173 PMID:27919346 PMID:27919364 PMID:27932355 PMID:27940769 PMID:27998977 PMID:28008009 PMID:28008010 PMID:28028493 PMID:28104544 PMID:28126585 PMID:28145427 PMID:28159968 PMID:28161202 PMID:28166811 PMID:28169869 PMID:28220743 PMID:28235710 PMID:28349240 PMID:28353356 PMID:28379029 PMID:28391882 PMID:28432645 PMID:28458923 PMID:28475941 PMID:28492532 PMID:28502495 PMID:28502510 PMID:28645073 PMID:28873201 PMID:28874442 PMID:28895539 PMID:28932795 PMID:28958694 PMID:28964736 PMID:28965616 PMID:28993407 PMID:29083407 PMID:29172679 PMID:29213121 PMID:29233637 PMID:29261184 PMID:29269200 PMID:29284604 PMID:29290422 PMID:29292049 PMID:29353225 PMID:29399563 PMID:29407885 PMID:29531935 PMID:29572815 PMID:29576406 PMID:29693183 PMID:29720182 PMID:29802317 PMID:29874871 PMID:29974534 PMID:30108616 PMID:30112042 PMID:30241732 PMID:30270055 PMID:30270076 PMID:30270081 PMID:30270082 PMID:30270083 PMID:30270084 PMID:30270359 PMID:30293936 PMID:30312929 PMID:30333156 PMID:30400955 PMID:30413722 PMID:30415195 PMID:30512145 PMID:30526649 PMID:30583242 PMID:30586733 PMID:30592178 PMID:30592719 PMID:30617148 PMID:30649024 PMID:30710474 PMID:30745730 PMID:30795984 PMID:30876527 PMID:30876530 PMID:30971288 PMID:30975109 PMID:31048103 PMID:31102204 PMID:31106297 PMID:31106925 PMID:31345425 PMID:31371270 PMID:31395865 PMID:31401775 PMID:31447099 PMID:31491741 PMID:31578082 PMID:31617323 PMID:31689621 PMID:31706281 PMID:31727422 PMID:31947532 PMID:31980526 PMID:32015373 PMID:32041611 PMID:32044282 PMID:32113782 PMID:32143996 PMID:32220565 PMID:32242544 PMID:32331935 PMID:32423031 PMID:32489792 PMID:32522009 PMID:32660911 PMID:32675277 PMID:32706999 PMID:32719484 PMID:32759540 PMID:32770674 PMID:32793292 PMID:32800790 PMID:32820175 PMID:32922439 PMID:32977124 PMID:33079599 PMID:33087929 PMID:33111339 PMID:33258288 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33508743 PMID:33740630 PMID:33955087 PMID:33994402 PMID:34037665 PMID:34249980 PMID:34297352 PMID:34456200 PMID:34906454 PMID:34998859 PMID:165423944 PMID:220236128 PMID:283553356 PMID:329777124 More...
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NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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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:11326085 PMID:12016260 PMID:12464675 PMID:12788851 PMID:12958143 PMID:15485476 PMID:16199547 PMID:20124734 PMID:21872251 PMID:22157599 PMID:24033266 PMID:25647241 PMID:25741868 PMID:25911074 PMID:27247956 PMID:28353356 PMID:28492532 PMID:28965616 PMID:29245109 PMID:30318064 PMID:33116287 PMID:34037665 More...
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NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
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G |
LOC691141 |
hypothetical protein LOC691141 |
|
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
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|
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 |
PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 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:16424354 PMID:16465619 PMID:16554528 PMID:16571601 PMID:16777760 PMID:16909389 PMID:16912035 PMID:16989838 PMID:17094996 PMID:17140581 PMID:17170371 PMID:17316651 PMID:17380167 PMID:17461796 PMID:17502126 PMID:17599443 PMID:17765244 PMID:17804797 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:18652535 PMID:18710658 PMID:18718593 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:20538126 PMID:20579540 PMID:20623344 PMID:20959675 PMID:21146822 PMID:21147780 PMID:21376320 PMID:21943799 PMID:22095935 PMID:22344438 PMID:22417841 PMID:22683120 PMID:22875854 PMID:22923420 PMID:22995991 PMID:23064986 PMID:23105118 PMID:23375686 PMID:23386946 PMID:23535506 PMID:23663650 PMID:23680767 PMID:23743349 PMID:23935525 PMID:23997648 PMID:24033266 PMID:24115837 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:26020417 PMID:26036859 PMID:26049403 PMID:26195630 PMID:26332594 PMID:26343872 PMID:26374825 PMID:26467025 PMID:26541928 PMID:26546829 PMID:26632531 PMID:26636822 PMID:26690388 PMID:26802169 PMID:26937405 PMID:27050191 PMID:27135400 PMID:27206942 PMID:27218270 PMID:27280970 PMID:27422940 PMID:27516387 PMID:27602404 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:28587771 PMID:28768753 PMID:28777095 PMID:28965616 PMID:29036232 PMID:29083407 PMID:29127338 PMID:29259136 PMID:29261184 PMID:29399563 PMID:29438441 PMID:29459468 PMID:29593013 PMID:29724976 PMID:29748315 PMID:29982529 PMID:29997226 PMID:30227170 PMID:30270359 PMID:30293936 PMID:30726226 PMID:30779729 PMID:30899674 PMID:30971288 PMID:31106297 PMID:31386798 PMID:31419281 PMID:31491741 PMID:31518966 PMID:31949048 PMID:31993549 PMID:32044282 PMID:32058034 PMID:32640185 PMID:33147992 PMID:33258288 PMID:33269076 PMID:33303402 PMID:33418990 More...
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NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
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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
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G |
Ppp1r17 |
protein phosphatase 1, regulatory subunit 17 |
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ISO |
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OMIM |
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NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603
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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
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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 |
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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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
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G |
Timm29 |
translocase of inner mitochondrial membrane 29 |
|
ISO |
ClinVar Annotator: match by term: Familial hypercholesterolemia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,145,264...20,148,233
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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
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G |
Yipf2 |
Yip1 domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial hypercholesterolemia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
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G |
Apob |
apolipoprotein B |
|
ISO |
ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B |
ClinVar |
PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1793440 PMID:1977310 PMID:2280177 PMID:2375782 PMID:2563166 PMID:3477815 PMID:3771801 PMID:7627691 PMID:7883971 PMID:8141833 PMID:8254047 PMID:8318509 PMID:8318993 PMID:8371062 PMID:8478017 PMID:8723684 PMID:8831935 PMID:9081691 PMID:9104431 PMID:9105560 PMID:9191540 | |