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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
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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G |
Apoa1 |
apolipoprotein A1 |
|
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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G |
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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G |
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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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
ISO |
infantile form CPT2 deficiency, OMIM:600649, R631C |
RGD |
PMID:1528846 |
RGD:1600742 |
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
|
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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G |
Decr1 |
2,4-dienoyl-CoA reductase 1 |
|
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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G |
Dhcr24 |
24-dehydrocholesterol reductase |
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ISO |
desmosterolosis, OMIM:602398, Y471S, N294T, K306N |
RGD |
PMID:11519011 |
RGD:1600897 |
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
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G |
Hadhb |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
|
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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G |
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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G |
Lipc |
lipase C, hepatic type |
|
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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G |
Mvk |
mevalonate kinase |
|
ISO |
mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T |
RGD |
PMID:1377680 |
RGD:1600528 |
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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G |
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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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
DNA:missense mutation:cds:p.L162V (human) |
RGD |
PMID:10828087 |
RGD:1580230 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
|
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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G |
Serac1 |
serine active site containing 1 |
|
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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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial |
ClinVar |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2493025 PMID:2786493 PMID:2843762 PMID:6976525 PMID:7629254 PMID:8345056 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17379008 PMID:19508587 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25697092 PMID:25741868 PMID:26543560 PMID:26770544 PMID:26845730 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29345162 PMID:29595516 PMID:29858860 PMID: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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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
|
ISO ISS |
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM:264300 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:27163392 PMID:27898418 PMID:27899157 PMID:28492532 PMID:28739554 PMID:29397602 PMID:30668521 PMID:32297288 PMID:33516834 PMID:36154887 PMID:36606580 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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G |
Decr1 |
2,4-dienoyl-CoA reductase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency |
CTD ClinVar |
PMID:25526675 PMID:25741868 PMID:28492532 |
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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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G |
Nadk2 |
NAD kinase 2, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:24847004 PMID:25741868 PMID:27940755 PMID:28492532 PMID:29388319 PMID:33223529 More...
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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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G |
Mttp |
microsomal triglyceride transfer protein |
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ISO |
DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency DNA:insertion:cds:c.419-420insA (human) DNA:mutations:cds:multiple (human) |
CTD ClinVar OMIM RGD |
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 PMID:8533758 PMID:8939939 PMID:9536098 PMID:9671739 PMID:10446076 PMID:10679949 PMID:10946006 PMID:12630961 PMID:16199547 PMID:16721486 PMID:17275380 PMID:17576681 PMID:18027103 PMID:18611256 PMID:20592474 PMID:21394827 PMID:22236406 PMID:23043934 PMID:23475612 PMID:24842304 PMID:25108285 PMID:25741868 PMID:27170061 PMID:27271787 PMID:27487388 PMID:27578136 PMID:28492532 PMID:28818680 PMID:30522860 PMID:32041611 PMID:33258201 PMID:8533758 PMID:14741197 PMID:10946006 More...
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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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G |
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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G |
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:8111381 PMID:8361539 PMID:8533758 PMID:8939939 PMID:9536098 PMID:9671739 PMID:10446076 PMID:10679949 PMID:10946006 PMID:12630961 PMID:16199547 PMID:16721486 PMID:17275380 PMID:17576681 PMID:18027103 PMID:18611256 PMID:20592474 PMID:21394827 PMID:22236406 PMID:23043934 PMID:23475612 PMID:24842304 PMID:25108285 PMID:25741868 PMID:27170061 PMID:27271787 PMID:27487388 PMID:27578136 PMID:28492532 PMID:28818680 PMID:30522860 PMID:32041611 PMID:33258201 More...
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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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G |
Acaca |
acetyl-CoA carboxylase alpha |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACACA DEFICIENCY | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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G |
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:22579964 PMID:24033266 PMID:25526675 PMID:25741868 PMID:26021573 PMID:26288759 PMID:26467025 PMID:27626911 PMID:27796263 PMID:27899157 PMID:28207417 PMID:28492532 PMID:28870780 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31611844 PMID:31950145 PMID: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 |
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 PMID:34906470 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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G |
Pex7 |
peroxisomal biogenesis factor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
OMIM CTD 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:23462609 PMID:23572185 PMID:24172221 PMID:25640679 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:34229749 PMID:34671977 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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G |
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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G |
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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G |
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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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
protein:increased expression:liver (human) |
RGD |
PMID:29307797 |
RGD:153297819 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
C1qc |
complement C1q C chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35789393 |
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NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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G |
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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G |
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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G |
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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G |
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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G |
Crp |
C-reactive protein |
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IEP |
protein:increased expression:serum: |
RGD |
PMID:21806828 |
RGD:9491781 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Nlrc5 |
NLR family, CARD domain containing 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36708882 |
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NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
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G |
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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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Amacr |
alpha-methylacyl-CoA racemase |
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ISO ISS |
OMIM:614307 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:16199547 PMID:17576681 PMID:18032455 PMID:20558530 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:23286897 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 PMID:34440436 More...
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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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G |
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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G |
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 2:59,419,507...59,446,746
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: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:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9462761 PMID:9605588 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11941481 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 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:24728327 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26467025 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 ClinVar Annotator: match by term: POR Deficiency |
CTD ClinVar |
PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:16906539 PMID:18551037 PMID:20188793 PMID:20940534 PMID:21741353 PMID:22162478 PMID:25741868 PMID:27068427 PMID:27496950 PMID:28492532 More...
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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: Osteodysgenesis, multisynostotic with fractures |
ClinVar |
PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9462761 PMID:9605588 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11941481 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 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:24728327 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26467025 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 ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency |
OMIM CTD ClinVar |
PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 PMID:15264278 PMID:15483095 PMID:15793702 PMID:16199547 PMID:16470797 PMID:17576681 PMID:18230729 PMID:18551037 PMID:18559916 PMID:19837910 PMID:20124576 PMID:20188793 PMID:20410220 PMID:20732302 PMID:20940534 PMID:21070833 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22547083 PMID:23878291 PMID:24847272 PMID:25741868 PMID:26670660 PMID:27068427 PMID:28492532 PMID:28841001 PMID:31598952 PMID:31837199 PMID:32242900 PMID:33666875 PMID:33864926 PMID:34009138 More...
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11941481 PMID:12124745 PMID:12884424 PMID:12884434 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15316116 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:20133659 PMID:20301628 PMID:20489451 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25759925 PMID:25867380 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 More...
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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 |
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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 |
OMIM CTD ClinVar |
PMID:2022742 PMID:11060345 PMID:19074352 PMID:20097930 PMID:23701270 PMID:24941081 PMID:24941082 PMID:25225788 PMID:25962519 PMID:27114411 PMID:28406212 PMID:28492532 PMID:28825717 PMID:29237685 PMID:30255797 PMID:32041611 PMID:34548093 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:3745433 PMID:6300187 PMID:7735921 PMID:9157949 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:33116287 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:16778331 PMID:17314322 PMID:19075542 PMID:20571110 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency |
CTD OMIM ClinVar |
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 PMID:9536098 PMID:11309366 PMID:15856305 PMID:16199547 PMID:17576681 PMID:17616409 PMID:17919309 PMID:19267410 PMID:20484222 PMID:24925315 PMID:25741868 PMID:26822237 PMID:28457694 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:33219486 PMID:34649574 More...
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency |
CTD OMIM ClinVar |
PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 PMID:28492532 PMID:29995202 PMID:30632081 PMID:31069529 PMID:31319425 PMID:31439510 PMID:32180488 PMID:33219486 More...
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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 5:146,722,329...146,734,924
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 5:146,356,571...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 ISS |
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 OMIM:603813 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 PMID:12016260 PMID:12464675 PMID:12535754 PMID:12788851 PMID:12958143 PMID:14717060 PMID:15485476 PMID:15599766 PMID:16199547 PMID:17576681 PMID:20124734 PMID:21872251 PMID:22157599 PMID:23510778 PMID:24033266 PMID:25647241 PMID:25670367 PMID:25741868 PMID:25911074 PMID:26723464 PMID:27247956 PMID:28353356 PMID:28492532 PMID:28958330 PMID:28964736 PMID:28965616 PMID:29153781 PMID:29245109 PMID:29396260 PMID:30318064 PMID:31589614 PMID:32041611 PMID:32636080 PMID:32770674 PMID:32878475 PMID:33111339 PMID:33116287 PMID:34037665 PMID:34389451 PMID:34756585 PMID:35047021 More...
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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 5:146,709,159...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 |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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G |
Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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G |
Cmc4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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G |
Ctag2 |
cancer/testis antigen 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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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 Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11238270 PMID:11748843 PMID:11968085 PMID:14662265 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17576681 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23409742 PMID:23660394 PMID:24033266 PMID:24365856 PMID:24962355 PMID:25652404 PMID:25741868 PMID:26471271 PMID:26845103 PMID:28492532 PMID:29334594 PMID:31333075 PMID:31559736 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 |
Dusp9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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G |
Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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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 |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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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 |
ClinVar |
PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15315792 PMID:16427346 PMID:16528451 PMID:16601897 PMID:16684786 PMID:18046504 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22293322 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:25741868 PMID:26471271 PMID:27535533 PMID:27880809 PMID:28492532 PMID:28583873 PMID:29300386 PMID:29334594 PMID:30097005 PMID:31609781 PMID:33069889 More...
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
H2ab3 |
H2A.B variant histone 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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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 |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Mtcp1 |
mature T-cell proliferation 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:126,189...130,123
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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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 |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Pnma3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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G |
Pnma5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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G |
Pnma6e |
PNMA family member 6E |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO ISS |
OMIM:302060 ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345058 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9384614 PMID:9536098 PMID:10480214 PMID:10484795 PMID:11238270 PMID:11735032 PMID:11748843 PMID:11896212 PMID:11968085 PMID:12032589 PMID:12468278 PMID:12529714 PMID:12930833 PMID:14654353 PMID:14662265 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16601897 PMID:16684786 PMID:16873891 PMID:16880272 PMID:16906470 PMID:17241629 PMID:17394203 PMID:17576681 PMID:17846786 PMID:18430085 PMID:19037987 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:19846429 PMID:20530761 PMID:20730588 PMID:20812380 PMID:21300850 PMID:21659346 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23345479 PMID:23361305 PMID:23409742 PMID:23606313 PMID:23656970 PMID:23660394 PMID:24033266 PMID:24342716 PMID:24365856 PMID:24813252 PMID:24887148 PMID:24962355 PMID:25112388 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26471271 PMID:26724946 PMID:26845103 PMID:26895103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:28855170 PMID:29077208 PMID:29089047 PMID:29247119 PMID:29334594 PMID:29476731 PMID:30122738 PMID:30471092 PMID:31333075 PMID:31559736 PMID:31568572 PMID:31647997 PMID:32619718 PMID:33500567 PMID:34906502 PMID:35104856 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 |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Trex2 |
three prime repair exonuclease 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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G |
Ubl4a |
ubiquitin-like 4A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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G |
Vbp1 |
VHL binding protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Zfp185 |
zinc finger protein 185 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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G |
Zfp92 |
ZFP92 zinc finger protein |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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G |
Apoe |
apolipoprotein E |
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ISO |
ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia |
ClinVar |
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:9157949 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:33116287 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 ISS |
OMIM:255120 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency |
OMIM MouseDO CTD ClinVar |
PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 PMID:11441142 PMID:12111367 PMID:12189492 PMID:12351641 PMID:14517221 PMID:15110323 PMID:16146704 PMID:16169268 PMID:16199547 PMID:16958601 PMID:17576681 PMID:19181627 PMID:19217814 PMID:19345525 PMID:20301700 PMID:20696606 PMID:21253826 PMID:21763168 PMID:21962599 PMID:23090344 PMID:23430491 PMID:23700290 PMID:24033266 PMID:24847810 PMID:25449608 PMID:25640679 PMID:25741868 PMID:26010953 PMID:26820065 PMID:27066452 PMID:27341449 PMID:28125087 PMID:28468868 PMID:28492532 PMID:29519241 PMID:30101502 PMID:31319225 PMID:32088118 PMID:32561900 PMID:32781271 PMID:33845545 PMID:34131458 PMID:35360862 More...
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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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Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal |
ClinVar |
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9536098 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12200419 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:12809643 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16199547 PMID:16225172 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17576681 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19239046 PMID:19762733 PMID:19763152 PMID:20301431 PMID:20307669 PMID:20543534 PMID:20661589 PMID:20810031 PMID: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:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30293990 PMID:30455135 PMID:30609409 PMID:30881520 PMID:30912279 PMID:31372341 PMID:31517061 PMID:31770251 PMID:32295037 PMID:32489884 PMID:32528171 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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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:14605509 PMID:15714519 PMID:16199547 PMID:16652335 PMID:16830263 PMID:17576681 PMID:17703373 PMID:18337137 PMID:20027113 PMID:20074989 PMID:20208395 PMID:20574985 PMID:21126579 PMID:21864509 PMID:21922592 PMID:23430858 PMID:23520115 PMID:23653224 PMID:23757202 PMID:23798014 PMID:23963628 PMID:24746540 PMID:24997454 PMID:25132046 PMID:25224063 PMID:25741868 PMID:26190315 PMID:26828774 PMID:27896095 PMID:28166811 PMID:28492532 PMID:28711408 PMID:28841266 PMID:30863740 PMID:31364285 PMID:32371215 PMID:33181153 PMID:33560599 PMID:34178604 PMID:34394177 PMID:34637945 PMID:36343260 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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Cpt2 |
carnitine palmitoyltransferase 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9536098 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID: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:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:31372341 PMID:31770251 PMID:32295037 PMID:32528171 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 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:736528 PMID:835844 PMID:1528846 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10862092 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20810031 PMID: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:27974123 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:31372341 PMID:32295037 PMID:32528171 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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Slc25a20 |
solute carrier family 25 member 20 |
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ISO |
ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1598097 PMID:5365988 PMID:9399886 PMID:9536098 PMID:9686371 PMID:10384384 PMID:10697964 PMID:11162577 PMID:11350184 PMID:11592821 PMID:12559850 PMID:12801121 PMID:12859414 PMID:15057979 PMID:15365988 PMID:16199547 PMID:16919490 PMID:17277394 PMID:17576681 PMID:21605995 PMID:22020112 PMID:24088670 PMID:25032985 PMID:25459972 PMID:25614308 PMID:25741868 PMID:26238931 PMID:27066551 PMID:28492532 PMID:29425111 PMID:31319225 PMID:31589614 PMID:32340404 PMID:33634872 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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Aamp |
angio-associated, migratory cell protein |
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ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,688,194...76,695,162
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
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G |
Catip |
ciliogenesis associated TTC17 interacting protein |
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ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,945,960...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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,766,894...75,771,079
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: Cerebrotendinous Xanthomatosis |
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:7860076 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8309576 PMID:8514861 PMID:8730343 PMID:8827518 PMID:8931710 PMID:8950197 PMID:9008528 PMID:9186905 PMID:9254865 PMID:9392430 PMID:9521761 PMID:9536098 PMID:9548584 PMID:9654207 PMID:9790667 PMID:10206677 PMID:10406988 PMID:10430841 PMID:10519880 PMID:10741487 PMID:10775536 PMID:11181744 PMID:11313766 PMID:11737215 PMID:11903362 PMID:12000359 PMID:12117727 PMID:12270007 PMID:12555943 PMID:12933951 PMID:14741198 PMID:14999499 PMID:15795599 PMID:16157755 PMID:16199547 PMID:16278884 PMID:16816916 PMID:17030721 PMID:17319284 PMID:17444890 PMID:17576681 PMID:17697869 PMID:18227423 PMID:18414213 PMID:19092443 PMID:19204079 PMID:19373932 PMID:19801147 PMID:20301583 PMID:20402754 PMID:20450308 PMID:20558929 PMID:20602799 PMID:20925952 PMID:20981092 PMID:21073839 PMID:21228398 PMID:21345536 PMID:21404287 PMID:21553098 PMID:21627786 PMID:21645175 PMID:21764626 PMID:21955034 PMID:21958693 PMID:21966169 PMID:22197981 PMID:22336472 PMID:22849591 PMID:22878431 PMID:23212406 PMID:23287330 PMID:23659550 PMID:24002088 PMID:24033266 PMID:24080357 PMID:24174808 PMID:24584636 PMID:24627108 PMID:24746394 PMID:25112387 PMID:25447658 PMID:25525159 PMID:25558065 PMID:25741868 PMID:25862734 PMID:25941960 PMID:25983621 PMID:26156051 PMID:26206375 PMID:26467025 PMID:26519892 PMID:26622071 PMID:26643207 PMID:26861945 PMID:26906304 PMID:26937392 PMID:27084087 PMID:27142713 PMID:27225395 PMID:27455001 PMID:27535533 PMID:27678445 PMID:27680221 PMID:27858369 PMID:27878435 PMID:27879219 PMID:27884173 PMID:28324197 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:31384146 PMID:31450232 PMID:31743419 PMID:31796091 PMID:32523054 PMID:32581172 PMID:32714376 PMID:33020668 PMID:33313117 PMID:33400472 PMID:33414089 PMID:33624863 PMID:33830582 PMID:34012265 PMID:34145886 PMID:34930075 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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Des |
desmin |
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ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,860,758...75,863,260
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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: Cerebrotendinous Xanthomatosis |
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 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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G |
Plcd4 |
phospholipase C, delta 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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G |
Pnkd |
PNKD metallo-beta-lactamase domain containing |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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G |
Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 |
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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 |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cholestanol storage disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28590052 |
|
NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850
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G |
Ptprn |
protein tyrosine phosphatase, receptor type, N |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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G |
Resp18 |
regulated endocrine-specific protein 18 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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G |
Retreg2 |
reticulophagy regulator family member 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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G |
Rnf25 |
ring finger protein 25 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Slc23a3 |
solute carrier family 23, member 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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G |
Speg |
striated muscle enriched protein kinase |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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G |
Stk16 |
serine/threonine kinase 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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G |
Stk36 |
serine/threonine kinase 36 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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G |
Tmbim1 |
transmembrane BAX inhibitor motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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G |
Tmem198 |
transmembrane protein 198 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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G |
Ttll4 |
tubulin tyrosine ligase like 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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G |
Tuba4a |
tubulin, alpha 4A |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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G |
Usp37 |
ubiquitin specific peptidase 37 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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G |
Vil1 |
villin 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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G |
Wnt10a |
Wnt family member 10A |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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G |
Wnt6 |
Wnt family member 6 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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G |
Zfp142 |
zinc finger protein 142 |
|
ISO |
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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G |
Abhd5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
|
ISO ISS |
OMIM:275630 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis |
OMIM MouseDO CTD ClinVar |
PMID:6181472 PMID:11590543 PMID:15136565 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 More...
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NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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G |
Ano10 |
anoctamin 10 |
|
ISO |
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis |
ClinVar |
PMID:11590543 PMID:28492532 |
|
NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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G |
Cdhr5 |
cadherin-related family member 5 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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G |
Cend1 |
cell cycle exit and neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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G |
Deaf1 |
DEAF1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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G |
Drd4 |
dopamine receptor D4 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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G |
Eps8l2 |
EPS8-like 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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G |
Gatd1 |
glutamine amidotransferase class 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Irf7 |
interferon regulatory factor 7 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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G |
Lmntd2 |
lamin tail domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Mir210 |
microRNA 210 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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G |
Phrf1 |
PHD and ring finger domains 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
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G |
Pidd1 |
p53-induced death domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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G |
Pnpla2 |
patatin-like phospholipase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 PMID:20370797 PMID:21170305 PMID:21544567 PMID:22832386 PMID:22990388 PMID:23232698 PMID:25287355 PMID:25741868 PMID:26922712 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 PMID:32041611 More...
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NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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G |
Rassf7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
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G |
Rplp2 |
ribosomal protein lateral stalk subunit P2 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
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G |
Sct |
secretin |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
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G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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G |
Taldo1 |
transaldolase 1 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
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G |
Tmem80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Neutral lipid storage myopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO ISS |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM:601455 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 PMID:17470135 PMID:17576681 PMID:20301641 PMID:20582309 PMID:21892769 PMID:23393557 PMID:23996628 PMID:24136616 PMID:25108819 PMID:25231362 PMID:25326637 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28454995 PMID:28492532 PMID:30311386 PMID:31673878 PMID:32376792 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 |
|
ISO |
ClinVar Annotator: match by term: Cholesteryl ester storage disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:24295952 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29958253 PMID:30684275 PMID:31182375 PMID:31230978 PMID:31392116 PMID:6097111 More...
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RGD:1600621 |
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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G |
Tspo |
translocator protein |
|
IMP |
|
RGD |
PMID:29074640 |
RGD:150429771 |
NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
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G |
Tspoem1Vpl |
translocator protein; ZFN induced mutant1, Vpl |
|
IMP |
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RGD |
PMID:29074640 |
RGD:150429771 |
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G |
Tspoem2Vpl |
translocator protein; ZFN induced mutant2, Vpl |
|
IMP |
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RGD |
PMID:29074640 |
RGD:150429771 |
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G |
Dcdc2 |
doublecortin domain containing 2 |
|
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 |
|
ISO ISS |
OMIM:246700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chylomicron retention disease |
OMIM MouseDO CTD ClinVar |
PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr10:36,024,415...36,054,069
Ensembl chr10:36,024,382...36,054,066
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: CK syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 |
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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 |
Ascc1 |
activating signal cointegrator 1 complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
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G |
Cdh23 |
cadherin-related 23 |
|
ISO |
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: 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 |
Chst3 |
carbohydrate sulfotransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807
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G |
Psap |
prosaposin |
|
ISO ISS |
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency OMIM:611721 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar OMIM MouseDO CTD |
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 PMID:8554069 PMID:9536098 PMID:10196694 PMID:10682309 PMID:11309366 PMID:15773042 PMID:16199547 PMID:17561962 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25640679 PMID:25741868 PMID:25991456 PMID:26462614 PMID:26822237 PMID:26831127 PMID:28457694 PMID:28492532 PMID:30037697 PMID:30632081 PMID:31319425 PMID:32180488 PMID:33219486 PMID:33402667 More...
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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 |
Spock2 |
SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr20:28,037,334...28,064,272
Ensembl chr20:28,033,475...28,064,272
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G |
Vsir |
V-set immunoregulatory receptor |
|
ISO |
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
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G |
Avpr1a |
arginine vasopressin receptor 1A |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr X:151,633,501...151,636,155
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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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
ClinVar |
PMID:3295546 PMID:8506298 PMID:9302260 PMID:9546661 PMID:12452430 PMID:15026188 PMID:15062555 PMID:16046588 PMID:16199547 PMID:16670167 PMID:17371482 PMID:19204079 PMID:19844114 PMID:20089618 PMID:22333028 PMID:22964742 PMID:23940125 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26467025 PMID:26476331 PMID:26806323 PMID:26956189 PMID:27316665 PMID:28228528 PMID:28492532 PMID:28514642 PMID:29626607 PMID:30223866 PMID:32203225 PMID:32561571 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 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 |
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:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 PMID:8396144 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11549685 PMID:12466376 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15771555 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17379008 PMID:18645707 PMID:19636199 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24498484 PMID:25741868 PMID:26543560 PMID:28008861 PMID:28492532 PMID:29595516 PMID:31636948 PMID:33516834 PMID:33864926 PMID:34524979 PMID:35990289 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:7626445 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8316254 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10973654 PMID:11196452 PMID:12050213 PMID:12050224 PMID:15585552 PMID:18252794 PMID:21340167 PMID:22579964 PMID:24033266 PMID:25211449 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31950145 PMID:34055358 PMID:34628416 More...
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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:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:17635179 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20410220 PMID:20732302 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22462747 PMID:23365120 PMID:23878291 PMID:25741868 PMID:27068427 PMID:28492532 PMID:31598952 PMID:33864926 PMID:34009138 PMID:17505056 More...
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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:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21846663 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 PMID:8634702 PMID:9326645 More...
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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:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14715874 PMID:15858147 PMID:17164306 PMID:19773403 PMID:20301350 PMID:21532487 PMID:23269230 PMID:23359698 PMID:23769969 PMID:24033266 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25741868 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28819757 PMID:29386111 PMID:29715434 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency |
OMIM CTD ClinVar |
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 PMID:8004113 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9536098 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12452430 PMID:12966519 PMID: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:18204274 PMID:18663314 PMID:19204079 PMID:19820005 PMID:19844114 PMID:20024693 PMID:20089618 PMID:20529578 PMID:20947076 PMID:22333028 PMID:22465514 PMID:22964742 PMID:23345044 PMID:23940125 PMID:23940126 PMID:24022297 PMID:24033266 PMID:24334966 PMID:24536089 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26066897 PMID:26265915 PMID:26280318 PMID:26300845 PMID:26467025 PMID:26476331 PMID:26525354 PMID:26806323 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28514642 PMID:28962970 PMID:29626607 PMID:29858860 PMID:29909741 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:33275286 PMID:33864926 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 |
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 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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G |
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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G |
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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G |
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:27376429 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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G |
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:9099839 PMID:9187661 PMID:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID: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:28492532 PMID:28644547 PMID:28741757 PMID:28819757 PMID:29386111 PMID:29715434 PMID:29996815 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8245018 PMID:8345056 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9892022 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11422109 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715827 PMID:14747197 PMID:15771555 PMID:15844475 PMID:16121340 PMID:16199547 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17379008 PMID:18422032 PMID:19454579 PMID:19470621 PMID:19508587 PMID:19636199 PMID:19728179 PMID:19793597 PMID:20170344 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:25697092 PMID:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28130116 PMID:28492532 PMID:28870780 PMID:29278670 PMID:29345162 PMID:29595516 PMID:29858860 PMID:30229581 PMID:33753170 PMID:33864926 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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G |
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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G |
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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G |
Hsd3b7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 |
OMIM CTD ClinVar |
PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 PMID:26712441 PMID:28492532 More...
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NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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G |
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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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 |
OMIM CTD ClinVar |
PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21541746 PMID:21567895 PMID:21623769 PMID:23812641 PMID:24117163 PMID:24641183 PMID:25741868 PMID:28039895 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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G |
Amacr |
alpha-methylacyl-CoA racemase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
OMIM CTD ClinVar |
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25741868 PMID:28492532 PMID:30369941 More...
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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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G |
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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G |
Abcd3 |
ATP binding cassette subfamily D member 3 |
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ISO ISS |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 CTD Direct Evidence: marker/mechanism OMIM:616278 |
OMIM ClinVar CTD MouseDO |
PMID:25168382 PMID:25741868 PMID:28492532 |
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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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G |
Acox2 |
acyl-CoA oxidase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 |
OMIM CTD 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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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital generalized lipodystrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:19226263 PMID:24498038 PMID:25741868 PMID:19187773 |
RGD:10047097 |
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Berardinelli-Seip congenital lipodystrophy | ClinVar Annotator: match by term: Brunzell syndrome | ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes |
CTD ClinVar |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:12030893 PMID:12362029 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:16735770 PMID:17387721 PMID:17486577 PMID:17535271 PMID:17663003 PMID:18057387 PMID:18093937 PMID:18585921 PMID:18690553 PMID:18790819 PMID:19041432 PMID:19226263 PMID:19396477 PMID:19438831 PMID:19762912 PMID:20301391 PMID:20598714 PMID:20806400 PMID:21126715 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:23564749 PMID:23659685 PMID:23989774 PMID:24345054 PMID:24451228 PMID:24604904 PMID:24778225 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26072926 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27452399 PMID:27549087 PMID:27612026 PMID:27632409 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:28916377 PMID:29478747 PMID:30903322 PMID:31372974 PMID:31475473 PMID:31770241 PMID:32792356 More...
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NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO ISS |
OMIM:608594 ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 |
OMIM MouseDO ClinVar |
PMID:11967537 PMID:12765973 PMID:14557463 PMID:14715872 PMID:15181077 PMID:15629135 PMID:18414213 PMID:18640396 PMID:19026526 PMID:21744063 PMID:22831748 PMID:24498038 PMID:25195639 PMID:25741868 PMID:26072926 PMID:26336158 PMID:27144933 PMID:28492532 PMID:30319454 PMID:31778856 PMID:32117065 More...
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NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO ISS |
ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 | ClinVar Annotator: match by term: Total lipodystrophy and acromegaloid gigantism OMIM:269700 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:11479539 PMID:11916958 PMID:12030893 PMID:12362029 PMID:14557463 PMID:15126564 PMID:16735770 PMID:17535271 PMID:17576681 PMID:17663003 PMID:18057387 PMID:18093937 PMID:18690553 PMID:19041432 PMID:19226263 PMID:19438831 PMID:19762912 PMID:20301391 PMID:21126715 PMID:23142943 PMID:23564749 PMID:23659685 PMID:23963299 PMID:23989774 PMID:24778225 PMID:25588603 PMID:25741868 PMID:26072926 PMID:26467025 PMID:27144933 PMID:27452399 PMID:27612026 PMID:27632409 PMID:28492532 PMID:28916377 PMID:29478747 PMID:30903322 PMID:31770241 PMID:32041611 PMID:32792356 More...
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NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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G |
Gng3 |
G protein subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603
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G |
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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G |
Cav1 |
caveolin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3 |
OMIM CTD ClinVar |
PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 PMID:28492532 PMID:29231014 PMID:31727138 PMID:33264630 PMID:34643546 More...
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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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G |
Cavin1 |
caveolae associated protein 1 |
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ISO ISS |
OMIM:613327 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 |
OMIM MouseDO CTD ClinVar |
PMID:12116229 PMID:18698612 PMID:19726876 PMID:20300641 PMID:20684003 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31778856 More...
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NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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G |
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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G |
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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G |
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:16356929 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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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
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ISO ISS |
OMIM:614662 ClinVar Annotator: match by term: Cortisone reductase deficiency 2 |
OMIM MouseDO 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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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
OMIM ClinVar |
PMID:9360545 PMID:9536098 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15264278 PMID:15350602 PMID:15483095 PMID:15793702 PMID:16199547 PMID:16467261 PMID:16470797 PMID:17576681 PMID:17635179 PMID:17827787 PMID:18230729 PMID:18433346 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20124576 PMID:20188793 PMID:20732302 PMID:20940534 PMID:21070833 PMID:21084761 PMID:21741353 PMID:21843508 PMID:22162478 PMID:22252407 PMID:22462747 PMID:22547083 PMID:22719896 PMID:23353702 PMID:23365120 PMID:23878291 PMID:24847272 PMID:25712184 PMID:25741868 PMID:26670660 PMID:27068427 PMID:27376429 PMID:28492532 PMID:28841001 PMID:29168297 PMID:31598952 PMID:31669572 PMID:32242900 PMID:33666875 PMID:34009138 More...
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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 |
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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G |
Acat2 |
acetyl-CoA acetyltransferase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency |
OMIM CTD 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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G |
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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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
severity |
ISO ISS |
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency OMIM:261515 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20301500 PMID:20673864 PMID:20681997 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25954003 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27618451 PMID:27790638 PMID:28017249 PMID:28490743 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32042923 PMID:33510602 PMID:33539324 PMID:34440436 PMID:34623748 PMID:34645488 PMID:34660840 PMID: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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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: DBP deficiency |
ClinVar |
PMID:16385454 PMID:17167479 PMID:17470132 PMID:19304393 PMID:25309764 PMID:25741868 PMID:28492532 PMID:30795902 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
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 PMID:28518168 PMID:32461654 More...
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NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
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G |
Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 |
OMIM CTD ClinVar |
PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 |
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NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156
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G |
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...33,689,111
Ensembl chr11:33,682,948...33,689,321
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G |
Ccpg1 |
cell cycle progression 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 |
ClinVar |
PMID:25741868 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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G |
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 PMID:34400385 More...
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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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G |
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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G |
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:3745433 PMID:6300187 PMID:7735921 PMID:9157949 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:33116287 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 ClinVar Annotator: match by term: Dyslipidemia |
CTD ClinVar |
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 |
Acadm |
acyl-CoA dehydrogenase medium chain |
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ISO |
ClinVar Annotator: match by term: Dyslipidemia |
ClinVar |
PMID:1361190 PMID:1447668 PMID:1570195 PMID:1601002 PMID:1671131 PMID:1678810 PMID:1679031 PMID:1684086 PMID:1756601 PMID:1902818 PMID:1972503 PMID:2046713 PMID:2251268 PMID:2393404 PMID:2394825 PMID:3786030 PMID:6434827 PMID:7652482 PMID:7720752 PMID:7730333 PMID:7904584 PMID:8104486 PMID:9158144 PMID:9797589 PMID:11263545 PMID:11346377 PMID:11349232 PMID:11486912 PMID:15832312 PMID:16291504 PMID:16617240 PMID:16737882 PMID:16763904 PMID:18241067 PMID:19224950 PMID:19780764 PMID:20036593 PMID:20301597 PMID:20333879 PMID:20434380 PMID:21228398 PMID:22630369 PMID:22975760 PMID:23028790 PMID:23509891 PMID:23574375 PMID:23842438 PMID:24033266 PMID:24082139 PMID:24623196 PMID:24718418 PMID:24799540 PMID:24966162 PMID:24998633 PMID:25087612 PMID:25333063 PMID:25741868 PMID:25763512 PMID:25940036 PMID:26215884 PMID:26223887 PMID:26467025 PMID:26947917 PMID:27976856 PMID:28492532 More...
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NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
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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 ClinVar Annotator: match by term: Dyslipidemia |
CTD ClinVar |
PMID:25037058 PMID:32853627 PMID:34862716 |
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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 |
Isl1 |
ISL LIM homeobox 1 |
treatment |
ISO IEP |
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RGD |
PMID:32277945 PMID:32277945 |
RGD:243049251, RGD:243049251 |
NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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G |
Klf14 |
KLF transcription 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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IMP ISO |
ClinVar Annotator: match by term: Dyslipidemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:20530721 PMID:36108984 PMID:27378433 |
RGD:12910104 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyslipidemia | 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 CTD ClinVar |
PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 PMID:15292318 PMID:18364377 PMID:21986251 PMID:23685560 PMID:24033266 PMID:24497850 PMID:24633158 PMID:25741868 PMID:25995285 PMID:28492532 PMID:28870971 PMID:30333156 More...
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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 |
Mir222 |
microRNA 222 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34862716 |
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NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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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...199,009,853
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 |
Rbp4 |
retinol binding protein 4 |
disease_progression |
ISO |
protein:increased expression:blood plasma (human) |
RGD |
PMID:22426023 |
RGD:329853319 |
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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G |
Scarb1 |
scavenger receptor class B, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 6 |
OMIM CTD 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...79,370,882
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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis |
OMIM CTD ClinVar |
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:28492532 PMID:33448156 More...
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NCBI chr16:66,491,930...66,547,161
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:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20147967 PMID:20570890 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20978259 PMID:21063026 PMID:21079152 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22734028 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23255105 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:24740626 PMID:24836576 PMID:25044103 PMID:25157968 PMID:25251940 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26110767 PMID:26619011 PMID:26623049 PMID:26970110 PMID:28492532 PMID:29298116 PMID:30289595 PMID:30443000 PMID:30448735 PMID:30891959 PMID:31891627 PMID:32934698 More...
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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 |
Btk |
Bruton tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
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NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Drp2 |
dystrophin related protein 2 |
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ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
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NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
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G |
Gla |
galactosidase, alpha |
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ISO ISS 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 | ClinVar Annotator: match by term: Fabry's disease OMIM:301500 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1315304 PMID:1315715 PMID:1650161 PMID:1677356 PMID:1753437 PMID:1846223 PMID:2152885 PMID:2160973 PMID:2171331 PMID:2393552 PMID:2539398 PMID:2744760 PMID:2836863 PMID:6379599 PMID:7504405 PMID:7531540 PMID:7575533 PMID:7596372 PMID:7599642 PMID:7911050 PMID:7951217 PMID:8012363 PMID:8069316 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8768754 PMID:8807334 PMID:8834244 PMID:8863162 PMID:8875188 PMID:8878432 PMID:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9268104 PMID:9395081 PMID:9452068 PMID:9452090 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10360396 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10916280 PMID:11076046 PMID:11137837 PMID:11145098 PMID:11179018 PMID:11295840 PMID:11322659 PMID:11531969 PMID:11531972 PMID:11668641 PMID:11688386 PMID:11804208 PMID:11828341 PMID:11889412 PMID:11914245 PMID:12068026 PMID:12175777 PMID:12207598 PMID:12359124 PMID:12428061 PMID:12429061 PMID:12480979 PMID:12512750 PMID:12668521 PMID:12694230 PMID:12778775 PMID:12786754 PMID:12796853 PMID:12911529 PMID:12920095 PMID:12938095 PMID:14635108 PMID:14680977 PMID:15003450 PMID: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:15947062 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16224739 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16626582 PMID:16720462 PMID:16754800 PMID:16773563 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17437606 PMID:17452128 PMID:17532296 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 PMID:17804462 PMID:18003767 PMID:18023222 PMID:18046674 PMID:18057066 PMID:18154965 PMID:18154966 PMID:18205205 PMID:18287059 PMID:18297328 PMID:18387337 PMID:18424138 PMID:18472290 PMID:18555667 PMID: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:22336178 PMID:22378313 PMID:22406018 PMID:22437327 PMID:22472932 PMID:22498845 PMID:22551898 PMID:22563919 PMID:22682330 PMID:22695894 PMID:22773828 PMID:22805550 PMID:22874111 PMID:22880956 PMID:22905681 PMID:23109060 PMID:23146289 PMID:23210910 PMID:23219219 PMID:23248976 PMID:23305247 PMID:23306324 PMID:23307880 PMID:23332617 PMID:23378663 PMID:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430848 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23608164 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23756194 PMID:23818648 PMID:23826564 PMID:23867994 PMID:23913314 PMID:23922385 PMID:23935525 PMID:23980562 PMID:24015197 PMID:24033266 PMID:24082139 PMID:24094560 PMID:24236025 PMID:24334114 PMID:24365053 PMID:24380807 PMID:24386359 PMID:24395922 PMID:24503780 PMID:24582695 PMID:24613481 PMID:24626231 PMID:24626659 PMID:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:24830310 PMID:24980630 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25487570 PMID:25511234 PMID:25525159 PMID:25531941 PMID:25596309 PMID:25611685 PMID:25619383 PMID:25637381 PMID:25640679 PMID:25655062 PMID:25663229 PMID:25741868 PMID:25750198 PMID:25762495 PMID:25772321 PMID:25795794 PMID:25835592 PMID:25900714 PMID:25955246 PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 PMID:26070511 PMID:26083343 PMID:26179544 PMID:26238931 PMID:26252393 PMID:26272908 PMID:26297554 PMID:26298600 PMID:26305465 PMID:26333625 PMID:26384850 PMID:26415523 PMID:26424312 PMID:26456105 PMID:26490103 PMID:26563328 PMID:26593248 PMID:26629990 PMID:26631895 PMID:26652600 PMID:26691501 PMID:26866599 PMID:26869469 PMID:26880903 PMID:26937405 PMID:26990548 PMID:27081853 PMID:27083555 PMID:27129690 PMID:27142856 PMID:27160240 PMID:27211852 PMID:27225851 PMID:27238910 PMID:27356758 PMID:27431810 PMID:27531472 PMID:27532257 PMID:27554049 PMID:27560961 PMID:27576502 PMID:27585509 PMID:27595546 PMID:27629047 PMID:27657681 PMID:27773586 PMID:27825144 PMID:27831900 PMID:27832731 PMID:27834756 PMID:27896102 PMID:27896103 PMID:27916943 PMID:27931613 PMID:27979989 PMID:27992580 PMID:28069318 PMID:28082092 PMID:28253518 PMID:28275245 PMID:28276057 PMID:28299312 PMID:28302345 PMID:28340691 PMID:28340804 PMID:28360401 PMID:28377241 PMID:28382085 PMID:28389313 PMID:28409012 PMID:28430823 PMID:28492532 PMID:28496025 PMID:28500230 PMID:28596458 PMID:28615118 PMID:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28771489 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:29121657 PMID:29132836 PMID:29186537 PMID:29203563 PMID:29215092 PMID:29227985 PMID:29247119 PMID:29305833 PMID:29307789 PMID:29326878 PMID:29330335 PMID:29361493 PMID:29437868 PMID:29476735 PMID:29487688 PMID:29491734 PMID:29530533 PMID:29543226 PMID:29621274 PMID:29631605 PMID:29649853 PMID:29661900 PMID:29688992 PMID:29688998 PMID:29770213 PMID:29794742 PMID:29853467 PMID:29867742 PMID:29875425 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30085001 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30246259 PMID:30261035 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30497360 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30662066 PMID:30677769 PMID:30715505 PMID:30739116 PMID:30762167 PMID:30773290 PMID:30804731 PMID:30834538 PMID:30853972 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31243236 PMID:31291414 PMID:31319156 PMID:31321922 PMID:31372342 PMID:31392112 PMID:31446751 PMID:31449323 PMID:31519519 PMID:31566927 PMID:31613176 PMID:31620600 PMID:31634893 PMID:31649303 PMID:31650418 PMID:31654629 PMID:31664448 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32036093 PMID:32042454 PMID:32099817 PMID:32109691 PMID:32127409 PMID:32150461 PMID:32161151 PMID:32203225 PMID:32246457 PMID:32306159 PMID:32418857 PMID:32435590 PMID:32442237 PMID:32486191 PMID:32531501 PMID:32583479 PMID:32699723 PMID:32714835 PMID:32719972 PMID:32789421 PMID:32793709 PMID:32797665 PMID:32802993 PMID:32813676 PMID:32860008 PMID:32901917 PMID:32995357 PMID:33016649 PMID:33036343 PMID:33040545 PMID:33072983 PMID:33179747 PMID:33204599 PMID:33437642 PMID:33495303 PMID:33527381 PMID:33543778 PMID:33545641 PMID:33673806 PMID:33907643 PMID:34199132 PMID:34205365 PMID:34270679 PMID:34401344 PMID:34679477 PMID:34803097 PMID:34905550 PMID:35548424 PMID:36156392 PMID:36292965 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 |
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IMP |
compared to wild type |
RGD |
PMID:29563343 |
RGD:150429980 |
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G |
Hnrnph2 |
heterogeneous nuclear ribonucleoprotein H2 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:7531540 PMID:11889412 PMID:15776423 PMID:17532296 PMID:17555407 PMID:18205205 PMID:20022777 PMID:21598360 PMID:21683120 PMID:23691425 PMID:23913314 PMID:23935525 PMID:24033266 PMID:24386359 PMID:25026990 PMID:25040344 PMID:25382311 PMID:25596309 PMID:25741868 PMID:26563328 PMID:27831900 PMID:27979989 PMID:28492532 PMID:30386727 PMID:30594474 PMID:33204599 PMID:34803097 More...
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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
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G |
Mylk2 |
myosin light chain kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
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G |
Rpl36a |
ribosomal protein L36A |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
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NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
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G |
Taf7l |
TATA-box binding protein associated factor 7-like |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
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NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
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G |
Timm8a1 |
translocase of inner mitochondrial membrane 8A1 |
|
ISO |
ClinVar Annotator: match by term: Fabry disease |
ClinVar |
PMID:10666480 PMID:12175777 PMID:28492532 |
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NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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