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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:lipid storage disease
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Accession:DOID:9455 term browser browse the term
Definition:A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (DO)
Synonyms:exact_synonym: Lipidoses;   Lipidosis;   Lipoidosis;   inborn lipid storage disorder;   lipoid storage diseas;   steatosis
 primary_id: MESH:D008064
 xref: EFO:0008527;   ICD10CM:E75.6;   ICD9CM:272.7;   ICD9CM:272.8



show annotations for term's descendants           Sort by:
lipid storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
JBrowse link
G Depp1 DEPP autophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 4:149,910,794...149,913,013
Ensembl chr 4:149,910,779...149,914,542
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
JBrowse link
G Fads2 fatty acid desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
JBrowse link
G Hpn hepsin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811
JBrowse link
G Inhbe inhibin subunit beta E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172
JBrowse link
G Lss lanosterol synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP RGD PMID:17524234 RGD:2308821 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP RGD PMID:17524234 RGD:2308821 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846
JBrowse link
Alcoholic Fatty Liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP
ISO
RGD PMID:26115886 PMID:18755807 PMID:27220557 PMID:22013387 RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Adra2a adrenoceptor alpha 2A ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
JBrowse link
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
JBrowse link
G Arrb2 arrestin, beta 2 ameliorates ISO protein:increased expression:hepatocyte RGD PMID:33871024 PMID:33871024 RGD:401938594, RGD:401938594 NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ameliorates ISO RGD PMID:33710653 RGD:401976495 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26428356 PMID:25583360 PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ameliorates ISO mRNA,protein:incrased expression:liver (human) RGD PMID:33710653 RGD:401976495 NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
JBrowse link
G Foxo1 forkhead box O1 ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Nlrc5 NLR family, CARD domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36708882 NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 treatment IMP RGD PMID:26256083 RGD:11522097 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tead1 TEA domain transcription factor 1 ameliorates ISO RGD PMID:33710653 RGD:401976495 NCBI chr 1:166,791,900...167,010,591
Ensembl chr 1:166,792,628...167,003,369
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:29884546 PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
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
JBrowse link
G Ubd ubiquitin D ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Psap prosaposin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency
CTD
OMIM
ClinVar
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Psap prosaposin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency
CTD
OMIM
ClinVar
PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated, migratory cell protein ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607
JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 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 More... RGD:1600872 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:1893099 PMID:16458823 PMID:17054684 PMID:17347258 PMID:18930999 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
JBrowse link
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
JBrowse link
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
JBrowse link
Chanarin-Dorfman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO
ISS
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
OMIM:275630
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3354610 PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 More... NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:25741868 PMID:28492532 NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
JBrowse link
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
JBrowse link
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 More... NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
JBrowse link
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
JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
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
JBrowse link
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
JBrowse link
cholesterol ester storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Cholesteryl ester storage disease
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 More... RGD:1600621 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
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
JBrowse link
G Tspoem1Vpl translocator protein; ZFN induced mutant1, Vpl IMP RGD PMID:29074640 RGD:150429771
G Tspoem2Vpl translocator protein; ZFN induced mutant2, Vpl IMP RGD PMID:29074640 RGD:150429771
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807
JBrowse link
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
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
OMIM:611721
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
MouseDO
CTD
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
JBrowse link
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 NCBI chr20:28,037,334...28,064,272
Ensembl chr20:28,033,475...28,064,272
JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
JBrowse link
Congenital Visceral Steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO RGD PMID:11997462 RGD:1300259 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
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
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:11536077 PMID:17693388 PMID:23972307 PMID:25741868 PMID:26992781 More... NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183
JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:25741868 PMID:32295525 PMID:33547378 PMID:37597066 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
JBrowse link
G Gla galactosidase, alpha ISO
IMP
ISS
DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease
compared to wild type
OMIM:301500
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 More... RGD:1601350, RGD:401976416, RGD:401976418, RGD:401976419, RGD:150429980 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:29563343 PMID:29979634 PMID:34320241 PMID:34541380 RGD:150429980, RGD:401976416, RGD:401976418, RGD:401976419
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:7531540 PMID:11889412 PMID:15776423 PMID:17532296 PMID:17555407 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041
JBrowse link
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
JBrowse link
G Micu1 mitochondrial calcium uptake 1 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:24336167 PMID:28492532 NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964
JBrowse link
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
JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
Farber lipogranulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO
ISS
ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency
OMIM:228000
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
Gaucher's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Chit1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:28492532 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO
ISS
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds, intron:multiple (human)
DNA:missense mutations, deletion:cds:multiple (human)
ClinVar
MouseDO
CTD
RGD
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... RGD:5508423, RGD:12791018, RGD:12791017, RGD:5508431 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency ClinVar PMID:22493294 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258 NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: GBA DEFICIENCY ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal
CTD
OMIM
ClinVar
PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISS
ISO
OMIM:230800
ClinVar Annotator: match by term: Gaucher disease type I
MouseDO
OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile ClinVar PMID:22493294 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: GD I ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISS
ISO
OMIM:230900
ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
MouseDO
OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
Gaucher's disease type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
CTD
OMIM
ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 More... NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis
ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Neu1 neuraminidase 1 ISS
ISO
OMIM:256550
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis
MouseDO
ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
JBrowse link
G Sgcb sarcoglycan, beta ISO ClinVar Annotator: match by term: Sialidosis ClinVar PMID:9032047 PMID:28492532 PMID:33250842 NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
JBrowse link
GM1 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: GLB1 deficiency ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Glb1 galactosidase, beta 1 treatment ISO
ISS
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GM1 gangliosidosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
MouseDO
CTD
RGD
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... RGD:1598983, RGD:11086251, RGD:12910453 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: GLB1 deficiency ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GLB1 DEFICIENCY | ClinVar Annotator: match by term: GM1 gangliosidosis ClinVar PMID:16941474 PMID:25741868 PMID:28492532 NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form ClinVar PMID:25741868 PMID:28492532 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 1 | ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
JBrowse link
GM1 gangliosidosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2 OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
JBrowse link
GM1 gangliosidosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis OMIM
ClinVar
PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More... NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a ganglioside GM2 activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 More... NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a ganglioside GM2 activator ISO
ISS
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
OMIM:272750
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More... NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 More... NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:28492532 NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082
JBrowse link
G Slc36a3 solute carrier family 36, member 3 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:28492532 NCBI chr10:39,243,531...39,273,433
Ensembl chr10:39,243,595...39,270,567
JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: GM2-gangliosidosis, adult-onset | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult ClinVar PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 More... NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 ClinVar PMID:1532289 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
JBrowse link
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:12217961 PMID:21315133 PMID:28492532 NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:11536077 PMID:17693388 PMID:23972307 PMID:25741868 PMID:26992781 More... NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183
JBrowse link
G Galc galactosylceramidase ISO
ISS
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
OMIM:245200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... RGD:38599167 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
JBrowse link
G Psap prosaposin ISS
ISO
OMIM:245200
ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
MouseDO
ClinVar
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:25741868 NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:9326318 PMID:25741868 PMID:25766764 PMID:27025581 PMID:28492532 More... NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
lysosomal acid lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISS
ISO
OMIM:278000
ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency
MouseDO
ClinVar
PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 More... NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
metabolic dysfunction-associated steatohepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 treatment ISO RGD PMID:29505790 RGD:19165131 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Acaca acetyl-CoA carboxylase alpha treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
JBrowse link
G Acer3 alkaline ceramidase 3 treatment
disease_progression
ISO mRNA:increased expression:liver RGD PMID:31949129 PMID:31949129 PMID:31949129 RGD:35673324, RGD:35673324, RGD:35673324 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO mRNA:increased expression:liver (mouse) RGD PMID:28100771 RGD:127285675 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Adipor2 adiponectin receptor 2 susceptibility
treatment
IEP
ISO
mRNA:decreased expression:liver (rat)
associated with obesity
associated with obesity;protein:decreased expression:liver (mouse)
RGD PMID:20606728 PMID:30131158 PMID:20965162 PMID:18666257 PMID:19763702 RGD:21076282, RGD:25824942, RGD:25440494, RGD:25330095, RGD:25330094 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Adra2a adrenoceptor alpha 2A ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO
IEP
human gene in mouse model
mRNA, protein: increased expression:liver, serum (rat)
RGD PMID:24793484 PMID:30187493 RGD:21408551, RGD:25671434 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding treatment IEP associated with type 2 diabetes mellitus; RGD PMID:29608898 RGD:153352320 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO
IEP
RNA:increased expression:liver:
mRNA:increased expression:liver (rat)
RGD PMID:24429361 PMID:20606728 PMID:30369082 RGD:14975280, RGD:21076282, RGD:14995462 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum: RGD PMID:27639593 RGD:14995335 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cldn1 claudin 1 IEP mRNA:increased expression:distal colon (rat) RGD PMID:31189495 RGD:26884351 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Col1a1 collagen type I alpha 1 chain ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 severity ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 PMID:25048951 RGD:27095890, RGD:27095890 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO mRNA:increased expression:liver (human) RGD PMID:28774887 RGD:15045601 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 treatment ISO
IEP
mRNA:increased expression:liver (human)
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD PMID:28774887 PMID:30038487 RGD:15045601, RGD:15092090 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 treatment IEP mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 RGD:401900305 NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ameliorates ISO RGD PMID:28415887 RGD:14985253 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Ifng interferon gamma ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082A>G (rs1800896) (human) RGD PMID:28852433 RGD:14975143 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 ameliorates ISO DNA:SNP:promoter:-174���G/C (human) RGD PMID:28852433 PMID:28100771 RGD:14975143, RGD:127285675 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irf5 interferon regulatory factor 5 ISO mRNA:increased expression:liver RGD PMID:27942586 RGD:40924562 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
JBrowse link
G Jak2 Janus kinase 2 ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Krt18 keratin 18 severity ISO
ISS
IEP
protein:increased degradation:plasma (human)
protein:altered degradation:liver, serum (rat)
protein:increased expression:serum (human)
associated with morbid obesity;protein:increased degradation: plasma(human)
protein:increased degradation:serum (human)
MouseDO
RGD
PMID:19585618 PMID:24071521 PMID:21993925 PMID:18995215 PMID:19333204 More... RGD:18337489, RGD:27226810, RGD:18337499, RGD:18337495, RGD:18337493, RGD:18337490 NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:SNPs: :rs1137100,rs1137101(human) RGD PMID:23278404 RGD:14696696 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Mc4r melanocortin 4 receptor ISS MouseDO NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO RGD PMID:32015322 RGD:151356909 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
JBrowse link
G Mir21 microRNA 21 ameliorates ISO RNA:increased expression:liver RGD PMID:26338827 PMID:26338827 RGD:41404659, RGD:41404659 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir221 microRNA 221 treatment
disease_progression
ISO RGD PMID:30316865 PMID:22267590 RGD:18337274, RGD:151709001 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Mir222 microRNA 222 disease_progression ISO RGD PMID:22267590 RGD:151709001 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir223 microRNA 223 treatment ISO RNA:increased expression:liver: RGD PMID:31585800 PMID:30964207 PMID:30964207 RGD:21408547, RGD:21408549, RGD:21408549 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mlxipl MLX interacting protein-like treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor treatment ISO RGD PMID:25790822 RGD:150519907 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IEP RGD PMID:25385666 RGD:21201312 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 treatment IEP mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nox4 NADPH oxidase 4 susceptibility IEP mRNA:increased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment ISO
IEP
mRNA:increased expression:liver (human)
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD PMID:28774887 PMID:30038487 RGD:15045601, RGD:15092090 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 treatment IEP mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO mRNA:increased expression:liver (human) RGD PMID:21425308 RGD:127229938 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G Scd stearoyl-CoA desaturase treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a mouse model
protein:increased expression:serum (human)
RGD PMID:28365916 PMID:26121037 RGD:27226700, RGD:27226705 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29696816 PMID:29696816 RGD:18937002, RGD:18937002 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Sod1 superoxide dismutase 1 susceptibility IEP mRNA:decreased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility IEP
ISO
mRNA:decreased expression:liver (rat) RGD PMID:20606728 PMID:24649902 RGD:21076282, RGD:26923960 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 treatment IEP mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 PMID:28458350 RGD:15092090, RGD:401799674 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:29482933 RGD:15090806 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr9 toll-like receptor 9 disease_progression ISO mRNA, protein:increased expression:serum, liver (mouse) RGD PMID:24650018 RGD:18337469 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor susceptibility IEP
ISO
mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (mouse)
RGD PMID:20606728 PMID:28100771 RGD:21076282, RGD:127285675 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Txnip thioredoxin interacting protein ISO RGD PMID:29482933 RGD:15090806 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link
G Ubd ubiquitin D ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639
JBrowse link
metabolic dysfunction-associated steatotic liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:liver (rat) RGD PMID:22112382 RGD:11040992 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcb1b ATP-binding cassette, sub-family B member 1B IEP mRNA:increased expression:liver (rat) RGD PMID:22112382 RGD:11040992 NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20040336 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 severity ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human)
CTD
RGD
PMID:29341352 PMID:18926681 RGD:14700775 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP protein:increased expression:liver RGD PMID:22112382 RGD:11040992 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 disease_progression IEP mRNA:increased expression:liver (rat) RGD PMID:23117815 RGD:15045604 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 disease_progression IEP mRNA:decreased expression:liver (rat) RGD PMID:23117815 RGD:15045604 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Acaca acetyl-CoA carboxylase alpha treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
JBrowse link
G Acacb acetyl-CoA carboxylase beta treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain treatment IEP RGD PMID:23076603 RGD:10047124 NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain treatment IEP RGD PMID:22569299 PMID:23076603 RGD:10047121, RGD:10047124 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Aco1 aconitase 1 IDA protein:increased activity:liver RGD PMID:23805238 RGD:11541090 NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
JBrowse link
G Actb actin, beta IDA protein:increased carbonylation:liver RGD PMID:25282656 RGD:11541097 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 IEP mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Adh4 alcohol dehydrogenase 4 (class II), pi polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 2:226,948,717...226,966,747
Ensembl chr 2:226,947,466...226,987,591
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing susceptibility
treatment
disease_progression
IEP
ISO
protein:decreased expression:serum
DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human)
associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human)
DNA:hypermethylation
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver
associated with Obesity, Morbid;
associated with obesity;protein:decreased expression:serum:
CTD
RGD
PMID:20415685 PMID:22152320 PMID:22269154 PMID:26042596 PMID:27860427 More... RGD:5685373, RGD:14401719, RGD:11076260, RGD:14401717, RGD:5686841, RGD:5686810, RGD:5686660, RGD:5686355 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adipor2 adiponectin receptor 2 susceptibility
treatment
severity
ISO
IEP
DNA:missense mutation:cds: (human)
mRNA:increased expression:liver (human)
mRNA:increased expression:liver (rat)
mRNA, protein:decreased expression:serum, liver (mouse)
RGD PMID:25345946 PMID:25536648 PMID:19422483 PMID:26770322 PMID:17006986 More... RGD:24922200, RGD:25824941, RGD:25440492, RGD:25330097, RGD:1599139, RGD:24922201 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (rs4994) (human) RGD PMID:15318095 RGD:5684892 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29127188 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29416063 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
JBrowse link
G Aldh1l2 aldehyde dehydrogenase 1 family, member L2 ISS OMIM:613282 | OMIM:613387 MouseDO NCBI chr 7:20,254,246...20,305,793
Ensembl chr 7:20,254,233...20,305,776
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: (rs671) (human)
CTD
RGD
PMID:29718361 PMID:25392542 PMID:27214654 PMID:31026768 RGD:15042863, RGD:11536476, RGD:15036808 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:20967760 RGD:5509622 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO RGD PMID:26420354 RGD:25671437 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoe apolipoprotein E IDA RGD PMID:21184788 RGD:6904141 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoh apolipoprotein H ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: NAFLD1 ClinVar PMID:25741868 PMID:35405176 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IDA RGD PMID:25222487 RGD:13703054 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding treatment IEP RGD PMID:27982256 RGD:153352323 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity IEP
ISO
protein:increased expression:plasma RGD PMID:25813056 PMID:24927058 RGD:14995922, RGD:14995928 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 disease_progression
treatment
IEP
IMP
RGD PMID:27639593 PMID:27639593 RGD:14995335, RGD:14995335 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism: :190A>G(human) RGD PMID:26591766 RGD:14995492 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20353583 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd36 CD36 molecule ISO mRNA:increased expression:liver RGD PMID:21216282 PMID:24280415 RGD:6893543, RGD:11041117 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cobll1 cordon-bleu WH2 repeat protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr 3:49,753,260...49,915,168
Ensembl chr 3:49,753,262...49,915,194
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO
IDA
RGD PMID:23703580 PMID:17241878 RGD:8552713, RGD:2308807 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29289645 PMID:31211621 RGD:14747028 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:28824718 RGD:27095887 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15706422 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO protein:decreased expression:liver (mouse) RGD PMID:29710028 RGD:25671411 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26428356 PMID:26703967 PMID:28458161 PMID:25317811 RGD:11573192, RGD:14700881, RGD:14700871 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IEP
ISO
RGD PMID:24166662 PMID:26394137 PMID:17618857 RGD:10400900, RGD:329955565, RGD:10401056 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEP RGD PMID:24351808 RGD:9588320 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22841818 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23127599 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fasn fatty acid synthase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
JBrowse link
G Fgf21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:26797127 PMID:29289645 PMID:32195457 RGD:25330354 NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Folr2 folate receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30794826 NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
JBrowse link
G Foxo1 forkhead box O1 treatment IMP associated with Diabetes Mellitus, Experimental RGD PMID:30186875 RGD:14401598 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver
CTD
RGD
PMID:35654975 PMID:23329013 RGD:329951008 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 treatment ISO associated with type 2 diabetes mellitus RGD PMID:30100243 PMID:27840945 RGD:14695535, RGD:14695545 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:20211032 RGD:10449177 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31086990 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
JBrowse link
G Gpt glutamic--pyruvic transaminase severity ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:plasma
CTD
RGD
PMID:35654975 PMID:24768200 PMID:22922605 RGD:14975160, RGD:14975251 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:24597775 RGD:11352823 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:24622831 RGD:10401873 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gsta1 glutathione S-transferase alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IEP protein:decreased expression:liver RGD PMID:24782632 RGD:14694831 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP associated with iron overload;protein:increased expression:serum (human)
mRNA:increased expression:liver (human)
RGD PMID:29871592 PMID:28051796 RGD:15042878, RGD:15042880 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:9453491 RGD:8694420 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase disease_progression IEP mRNA:decreased expression:liver
mRNA:decreased expression:liver (rat)
RGD PMID:19913842 PMID:23117815 RGD:5508690, RGD:15045604 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hp haptoglobin IEP
ISO
protein:increased expression:serum
protein:decreased expression:serum
RGD PMID:21806828 PMID:21806828 RGD:9491781, RGD:9491781 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:35732081 RGD:401900606 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
JBrowse link
G Ide insulin degrading enzyme IEP RGD PMID:26576191 RGD:13792804 NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
JBrowse link
G Ifi30 IFI30, lysosomal thiol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility IEP associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) RGD PMID:24275070 RGD:12904726 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor susceptibility IEP associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) RGD PMID:24275070 RGD:12904726 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igfbp7 insulin-like growth factor binding protein 7 treatment
disease_progression
ISO
IEP
mRNA:increased expression:liver (human)
mRNA:increased expression:liver (rat)
RGD PMID:31397492 PMID:35312185 PMID:36034446 PMID:31805951 RGD:401960873, RGD:401960879, RGD:401960878, RGD:401960876 NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21115542 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Il10 interleukin 10 severity ISO associated with morbid obesity RGD PMID:25894568 RGD:14975151 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:18802068 RGD:4145478 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il18 interleukin 18 treatment
severity
IEP
ISO
protein:increased expression:plasma RGD PMID:24006666 PMID:28660148 PMID:20422882 RGD:8655964, RGD:14696674, RGD:14696664 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta no_association ISO DNA:SNPs:CDS:rs1143634 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:CDS:rs16944 (human)
CTD
RGD
PMID:32613381 PMID:27730688 PMID:27730688 RGD:14975293, RGD:14975293 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO associated with morbid obesity, protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:35654975 PMID:22027586 RGD:14401582 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO mRNA,protein:increased expression:liver,plasma
DNA:SNPs:promoter:rs10499563, rs1800795 (human)
RGD PMID:18510618 PMID:27730688 RGD:7829808, RGD:14975293 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32613381 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Insr insulin receptor susceptibility
treatment
IMP
ISO
IEP
DNA:deletion:cds:codon 306 in exon 4 (mouse)
DNA:deletion:cds: (codon 306, exon 4) (mouse)
RGD PMID:28468951 PMID:28468951 PMID:29325294 RGD:14700929, RGD:14700929, RGD:14700932 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Irs1 insulin receptor substrate 1 IEP RGD PMID:20846698 RGD:6483014 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
JBrowse link
G Irs2 insulin receptor substrate 2 IEP RGD PMID:20846698 RGD:6483014 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Jak2 Janus kinase 2 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:28100771 PMID:18782535 RGD:6483030 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Klb klotho beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
JBrowse link
G Krt18 keratin 18 disease_progression ISO
IEP
protein:increased expression:serum (human)
associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat)
protein:increased degradation:serum (rat)
RGD PMID:30839434 PMID:29989845 PMID:30149902 PMID:30089409 RGD:18337481, RGD:26884460, RGD:18337497, RGD:18337482 NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
JBrowse link
G Lama1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20938947 PMID:23127599 PMID:23285030 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Lep leptin ISO
ISS
IEP
associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
OMIM:613282 | OMIM:613387
associated with type 2 diabetes mellitus;protein:increased expression:serum (human)
associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)
CTD
MouseDO
RGD
PMID:24211274 PMID:36105184 PMID:18713300 PMID:30052309 PMID:20476641 RGD:2311137, RGD:25330349, RGD:25330346 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepr leptin receptor susceptibility ISO
ISS
DNA:intron:c.2673+1118C>T (rs6700896) (human)
DNA:SNP:cds:p.Q223R(human)
OMIM:613282 | OMIM:613387
MouseDO
RGD
PMID:22215535 PMID:27257426 RGD:14696694, RGD:21079462 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
JBrowse link
G Lpl lipoprotein lipase treatment IDA
IEP
RGD PMID:30214514 PMID:27978932 RGD:13793398, RGD:13794377 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment IEP associated with Diabetes Mellitus, Type 2;
protein:increased phosphorylation:adipose tissue, liver (rat)
RGD PMID:24404139 PMID:27909723 RGD:13506784, RGD:150340686 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression ISO RGD PMID:24845607 RGD:14694829 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mfn2 mitofusin 2 treatment IEP RGD PMID:26401075 RGD:13204743 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:blood, liver RGD PMID:27856635 PMID:27832630 RGD:21079446, RGD:25671479 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir200b microRNA 200b severity ISO induced by nutritional deficiency. RGD PMID:22561871 PMID:20548288 RGD:14928332, RGD:14974031 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir20a microRNA 20a IEP associated with type 2 diabetes mellitus RGD PMID:30030064 RGD:25823148 NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
JBrowse link
G Mir22 microRNA 22 severity
treatment
ISO RGD PMID:32195457 PMID:32195457 RGD:25330354, RGD:25330354 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
JBrowse link
G Mir34a microRNA 34a ISO miRNA:increased expression:plasma RGD PMID:27077736 RGD:11533145 NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
JBrowse link
G Mlxipl MLX interacting protein-like treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
JBrowse link
G Mlycd malonyl-CoA decarboxylase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
susceptibility
ISO DNA:SNP: :1298A > C (human)
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD PMID:24488901 PMID:17563923 RGD:14696706, RGD:14696748 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:35654975 PMID:15094225 RGD:1581245 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase treatment IEP RGD PMID:27982256 RGD:153352323 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25294219 PMID:23592516 RGD:10412712 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISS OMIM:613282 | OMIM:613387 MouseDO NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA, protein:increased expression:liver (mouse) RGD PMID:21948338 RGD:5509578 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29289645 PMID:28932253 RGD:13434914 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
disease_progression
susceptibility
ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (rat)
mRNA:decreased expression:liver (rat)
DNA:deletion:cds:exon 9 (mouse)
CTD
RGD
PMID:29142166 PMID:32062620 PMID:29743187 PMID:30257410 PMID:23117815 More... RGD:14696797, RGD:15090799, RGD:15045604, RGD:14701033 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
JBrowse link
G Pdk4 pyruvate dehydrogenase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 4:33,591,796...33,601,798
Ensembl chr 4:33,589,799...33,601,850
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29416063 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISS OMIM:613282 | OMIM:613387 MouseDO NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase treatment IEP RGD PMID:29031784 RGD:13831310 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Pklr pyruvate kinase L/R treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased expression:serum RGD PMID:22112193 RGD:6482771 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 susceptibility ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease
OMIM:613282 | OMIM:613387
DNA:SNPs: :rs738407, rs738409, and rs2896019 (human)
associated with obesity;DNA:SNP: :rs738409 (p.I148M) (human)
CTD
ClinVar
MouseDO
RGD
PMID:18820647 PMID:21381068 PMID:24033266 PMID:24531328 PMID:24917523 More... RGD:14981596, RGD:14981593, RGD:13463463 NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
JBrowse link
G Pon2 paraoxonase 2 treatment IEP RGD PMID:22536512 RGD:8661257 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23603006 PMID:31211621 RGD:14747028 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16574099 PMID:29289645 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment
susceptibility
IDA
IEP
ISO
associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) RGD PMID:21373642 PMID:26394137 PMID:23269818 RGD:6484527, RGD:329955565, RGD:7241847 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppargc1b PPARG coactivator 1 beta treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISS OMIM:613282 | OMIM:613387 MouseDO NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:34678374 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
JBrowse link
G Prf1 perforin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
JBrowse link
G Prkca protein kinase C, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Prkce protein kinase C, epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26023714 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 treatment ISO RGD PMID:26723251 RGD:11086779 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
G Rarres2 retinoic acid receptor responder 2 disease_progression ISO
IEP
mRNA:decreased expression:liver
mRNA, protein:decreased expression:liver,serum
RGD PMID:23507574 PMID:23507574 PMID:23507574 RGD:15036822, RGD:15036822, RGD:15036822 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
JBrowse link
G Retn resistin IEP protein:increased expression:serum RGD PMID:20560816 RGD:7207249 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G Samm50 SAMM50 sorting and assembly machinery component ISO DNA:SNPs: : RGD PMID:26740948 RGD:13463463 NCBI chr 7:115,317,472...115,341,682
Ensembl chr 7:115,317,404...115,341,682
JBrowse link
G Scarb1 scavenger receptor class B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23127599 NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
JBrowse link
G Scd stearoyl-CoA desaturase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Serpinb2 serpin family B member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:blood: RGD PMID:25091195 RGD:13208545 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISS OMIM:613282 | OMIM:613387 MouseDO NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
JBrowse link
G Sirt1 sirtuin 1 treatment
severity
IEP
ISO
CTD Direct Evidence: therapeutic
associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue
protein:decreased expression:liver
CTD
RGD
PMID:26026874 PMID:17498258 PMID:20033348 PMID:22902550 RGD:9585663, RGD:9586021, RGD:9585746 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Sirt2 sirtuin 2 treatment IDA associated with Obesity RGD PMID:22327056 RGD:9586049 NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
JBrowse link
G Sirt3 sirtuin 3 treatment IDA associated with Obesity RGD PMID:22327056 RGD:9586049 NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
JBrowse link
G Sirt4 sirtuin 4 IEP RGD PMID:20651844 RGD:9586052 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
JBrowse link
G Sirt6 sirtuin 6 treatment IEP RGD PMID:21373642 RGD:6484527 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15094225 PMID:24597775 RGD:1581245, RGD:11352823 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 disease_progression
treatment
ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (mouse)
CTD
RGD
PMID:23603006 PMID:24633463 PMID:29173234 PMID:26394137 RGD:401827867, RGD:329955565 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Stat3 signal transducer and activator of transcription 3 IDA RGD PMID:18782535 RGD:6483030 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stc2 stanniocalcin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973
JBrowse link
G Tff3 trefoil factor 3 treatment ISO mRNA,protein:decreased expression:liver: RGD PMID:31211621 PMID:31211621 RGD:14747028, RGD:14747028 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
JBrowse link
G Tfrc transferrin receptor IEP protein:increased expression:liver RGD PMID:23805238 RGD:11541090 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
JBrowse link
G Tg thyroglobulin sexual_dimorphism ISO RGD PMID:30016121 RGD:401976499 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 PMID:32613381 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr4 toll-like receptor 4 treatment
severity
IEP
ISO
mRNA:increased expression:liver: RGD PMID:23301938 PMID:25413054 PMID:22253482 RGD:7777122, RGD:14700658, RGD:14700656 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression:liver (human, mouse) RGD PMID:28687713 RGD:18337289 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G