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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
For additional species annotation, visit the Alliance of Genome Resources.



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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) EXP CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542
JBrowse link
G DEPP1 DEPP autophagy regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr10:44,976,128...44,978,809
Ensembl chr10:44,970,981...44,978,809
JBrowse link
G FABP1 fatty acid binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 2:88,122,982...88,128,062
Ensembl chr 2:88,122,982...88,128,062
JBrowse link
G FADS2 fatty acid desaturase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr11:61,816,203...61,867,354
Ensembl chr11:61,792,980...61,867,354
JBrowse link
G FNDC4 fibronectin type III domain containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 2:27,491,883...27,495,200
Ensembl chr 2:27,491,883...27,495,200
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr16:30,104,810...30,113,537
Ensembl chr16:30,104,810...30,113,537
JBrowse link
G HPN hepsin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr19:35,040,506...35,066,573
Ensembl chr19:35,040,506...35,066,573
JBrowse link
G INHBE inhibin subunit beta E EXP CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr12:57,455,307...57,458,025
Ensembl chr12:57,452,323...57,459,280
JBrowse link
G LSS lanosterol synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 1:26,911,489...26,913,975
Ensembl chr 1:26,911,489...26,913,975
JBrowse link
G NUPR1 nuclear protein 1, transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr16:28,532,708...28,538,974
Ensembl chr16:28,532,708...28,539,008
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G SCD stearoyl-CoA desaturase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826
JBrowse link
G SERPINA3 serpin family A member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr14:94,612,391...94,624,053
Ensembl chr14:94,612,384...94,624,055
JBrowse link
G SLC2A3 solute carrier family 2 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...7,936,187
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:17524234 RGD:2308821 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:17524234 RGD:2308821 NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,079...41,907,307
JBrowse link
G TAGLN transgelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464
JBrowse link
G WIPI1 WD repeat domain, phosphoinositide interacting 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr17:68,421,281...68,457,496
Ensembl chr17:68,420,948...68,457,513
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 IEP protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:27220557 PMID:26115886 PMID:22013387 PMID:18755807 RGD:25824939, RGD:25330099, RGD:25440493, RGD:25824943 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member severity
treatment
susceptibility
ISO
IMP
IAGP
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 chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IEP protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403
JBrowse link
G C1QC complement C1q C chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCR2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CTSB cathepsin B ISO protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26428356 PMID:25583360 PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G LDLR low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G MIR155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase ISO RGD PMID:17156888 RGD:1642369 NCBI chr17:17,505,563...17,592,142
Ensembl chr17:17,505,563...17,591,708
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:11477087 RGD:1625694 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:18296740 RGD:7207884 NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TLR4 toll like receptor 4 severity ISO RGD PMID:21463341 PMID:29884546 RGD:14700554, RGD:14697697 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor susceptibility
treatment
IAGP
ISO
DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463 PMID:20143470 RGD:14995434, RGD:38508901 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,089 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 IAGP ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency
ClinVar
OMIM
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:9536098 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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 IAGP ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29995202 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,264,129...218,270,137
Ensembl chr 2:218,264,129...218,270,178
JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,229,806...219,236,679
Ensembl chr 2:219,229,783...219,236,679
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,217,189...218,254,348
Ensembl chr 2:218,217,141...218,254,356
JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,507,093...219,538,772
Ensembl chr 2:219,514,170...219,538,772
JBrowse link
G ATG9A autophagy related 9A IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,219,380...219,229,636
Ensembl chr 2:219,219,380...219,229,717
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,368,099
JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,959,666...218,962,155
Ensembl chr 2:218,959,666...218,962,155
JBrowse link
G CFAP65 cilia and flagella associated protein 65 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,002,846...219,041,551
Ensembl chr 2:219,002,846...219,041,527
JBrowse link
G CHPF chondroitin polymerizing factor IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,538,954...219,543,809
Ensembl chr 2:219,538,954...219,543,809
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,568,839...218,597,080
Ensembl chr 2:218,568,580...218,597,080
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,171,897...219,178,156
Ensembl chr 2:219,171,897...219,178,106
JBrowse link
G CRYBA2 crystallin beta A2 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,990,190...218,993,422
Ensembl chr 2:218,990,189...218,993,422
JBrowse link
G CTDSP1 CTD small phosphatase 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,396,351...218,405,941
Ensembl chr 2:218,398,256...218,405,941
JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP
EXP
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
CTD Direct Evidence: marker/mechanism
OMIM:213700, R446C, R362C
ClinVar
OMIM
CTD
RGD
PMID:2019602 PMID:7697869 PMID:7915755 PMID:8006521 PMID:8014582 More... RGD:1600872 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898
JBrowse link
G DNPEP aspartyl aminopeptidase IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,372,043...219,400,007
Ensembl chr 2:219,372,043...219,400,022
JBrowse link
G FEV FEV transcription factor, ETS family member IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,981,087...218,985,184
Ensembl chr 2:218,981,087...218,985,184
JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:10218527 PMID:10830906 PMID:10982180 PMID:11313763 PMID:11493200 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GLB1L galactosidase beta 1 like IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,236,598...219,245,444
Ensembl chr 2:219,236,598...219,245,478
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,259,496...218,263,861
Ensembl chr 2:218,259,496...218,263,861
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G MIR26B microRNA 26b IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,402,646...218,402,722
Ensembl chr 2:218,402,646...218,402,722
JBrowse link
G MIR375 microRNA 375 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,001,645...219,001,708
Ensembl chr 2:219,001,645...219,001,708
JBrowse link
G NHEJ1 non-homologous end joining factor 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G PLCD4 phospholipase C delta 4 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,607,899...218,637,175
Ensembl chr 2:218,607,855...218,637,184
JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793
JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 2:218,822,308...218,831,803
Ensembl chr 2:218,822,308...218,832,086
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,289,623...219,309,401
Ensembl chr 2:219,289,623...219,309,648
JBrowse link
G RESP18 regulated endocrine specific protein 18 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,327,407...219,336,656
Ensembl chr 2:219,327,407...219,333,177
JBrowse link
G RETREG2 reticulophagy regulator family member 2 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,178,275...219,185,475
Ensembl chr 2:219,176,225...219,185,475
JBrowse link
G RNF25 ring finger protein 25 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,663,892...218,672,002
Ensembl chr 2:218,663,892...218,672,002
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SLC23A3 solute carrier family 23 member 3 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,161,465...219,170,029
Ensembl chr 2:219,161,465...219,170,095
JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
JBrowse link
G STK16 serine/threonine kinase 16 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,245,479...219,250,337
Ensembl chr 2:219,245,455...219,250,337
JBrowse link
G STK36 serine/threonine kinase 36 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,274,197...218,292,503
Ensembl chr 2:218,274,197...218,292,586
JBrowse link
G TMEM198 transmembrane protein 198 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,543,663...219,550,595
Ensembl chr 2:219,543,663...219,550,595
JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,710,835...218,759,724
Ensembl chr 2:218,710,835...218,755,416
JBrowse link
G TUBA4A tubulin alpha 4a IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902
JBrowse link
G USP37 ubiquitin specific peptidase 37 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,450,251...218,568,351
Ensembl chr 2:218,450,251...218,568,351
JBrowse link
G VIL1 villin 1 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,419,123...218,453,295
Ensembl chr 2:218,419,121...218,453,295
JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT6 Wnt family member 6 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 2:218,859,805...218,874,233
Ensembl chr 2:218,859,805...218,874,233
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:219,206,782...219,209,648
Ensembl chr 2:219,195,237...219,209,651
JBrowse link
G ZNF142 zinc finger protein 142 IAGP ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 2:218,633,329...218,659,623
Ensembl chr 2:218,633,329...218,659,655
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 IAGP
EXP
ClinVar Annotator: match by term: Cholesteryl ester storage disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... RGD:1600621 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G TSPO translocator protein ISO RGD PMID:29074640 RGD:150429771 NCBI chr22:43,151,559...43,163,242
Ensembl chr22:43,151,547...43,163,242
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar
OMIM
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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 chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963
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 IDA RGD PMID:20941593 RGD:12879402 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGT angiotensinogen severity IAGP DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AR androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G GLA galactosidase alpha IAGP
ISO
EXP
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Ceramide trihexosidase deficiency
ClinVar Annotator: match by term: Fabry's disease
CTD Direct Evidence: marker/mechanism
DNA:point mutation:exon:R356W
ClinVar
OMIM
CTD
RGD
PMID:1315304 PMID:1315715 PMID:1650161 PMID:1677356 PMID:1753437 More... RGD:150429980, RGD:1601350 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133
JBrowse link
G IL1A interleukin 1 alpha IAGP DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689
JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Ceramide trihexosidase deficiency
ClinVar Annotator: match by term: Fabry's disease
ClinVar PMID:1315304 PMID:1315715 PMID:1650161 PMID:1677356 PMID:1753437 More... NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297
JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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 IAGP ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 More... NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 More... NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297
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 IAGP ClinVar Annotator: match by term: Farber lipogranulomatosis
ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency
ClinVar Annotator: match by term: Farber's lipogranulomatosis
ClinVar Annotator: match by term: Farber disease
ClinVar
OMIM
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
fatty liver disease 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 associated with adult growth hormone deficiency RGD PMID:15995177 PMID:26362727 PMID:30130150 RGD:1598534, RGD:21408552, RGD:18936993 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO RGD PMID:16139386 RGD:1598602 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO mRNA, protein:increased expression:liver RGD PMID:17640958 RGD:2301064 NCBI chr17:50,634,881...50,692,253
Ensembl chr17:50,634,777...50,692,253
JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO RGD PMID:16485039 RGD:1625727 NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO RGD PMID:16485039 RGD:1625727 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP
ISO
associated with hepatitis C;protein:increased expression:serum
protein:increased expression:plasma
RGD PMID:20714777 PMID:16115302 PMID:17006986 RGD:5686883, RGD:5686674, RGD:1599139 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19076162 PMID:30225267 RGD:2307264, RGD:21406435 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
JBrowse link
G ADK adenosine kinase ISS OMIM:228100 MouseDO NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963
JBrowse link
G ADRB2 adrenoceptor beta 2 IAGP RGD PMID:11718682 RGD:1559320 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G AKT1 AKT serine/threonine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IEP associated with obesity RGD PMID:16197789 RGD:1601177 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G ANGPTL4 angiopoietin like 4 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:28842503 PMID:15837923 RGD:1625354 NCBI chr19:8,364,155...8,374,370
Ensembl chr19:8,363,289...8,374,370
JBrowse link
G APOA1 apolipoprotein A1 treatment ISO RGD PMID:30231880 RGD:25671436 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOB apolipoprotein B EXP
ISO
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
CTD
RGD
PMID:12048068 PMID:17303181 PMID:17203948 RGD:2325770 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOE apolipoprotein E EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:32853627 PMID:29459263 RGD:13703129 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATF4 activating transcription factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr22:39,520,559...39,522,686
Ensembl chr22:39,519,695...39,522,683
JBrowse link
G ATP5IF1 ATP synthase inhibitory factor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 1:28,236,124...28,238,100
Ensembl chr 1:28,236,109...28,246,906
JBrowse link
G ATP7B ATPase copper transporting beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403
JBrowse link
G CA3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 8:85,438,859...85,449,040
Ensembl chr 8:85,373,436...85,449,040
JBrowse link
G CAT catalase ISO
EXP
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10860543 PMID:21452373 RGD:5130871 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29684222 PMID:22983634 RGD:8548844 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO
IEP
mRNA:increased expression:liver RGD PMID:28011329 PMID:28011329 RGD:14995306, RGD:14995306 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CD163 CD163 molecule IEP associated with hepatitis B;protein:increased expression:blood serum (human) RGD PMID:26339412 RGD:11251207 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:19788606 RGD:6893500 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CEBPB CCAAT enhancer binding protein beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
JBrowse link
G CNDP2 carnosine dipeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:74,496,363...74,523,454
Ensembl chr18:74,495,816...74,523,454
JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:15787813 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO protein:increased expression:liver (rat) RGD PMID:20347174 RGD:4144089 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:14614508 RGD:734818 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G CTSB cathepsin B ISO mRNA, protein:increased expression, increased activity:liver, cytosol (rat) RGD PMID:18452148 RGD:2315513 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CYCS cytochrome c, somatic EXP CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11929713 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 EXP CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO mRNA:increased expression:liver (mouse) RGD PMID:31175967 RGD:25671414 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO
EXP
IAGP
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:5' utr:reduced frequency of homozygotic C1 RFLP (PstI+, RsaI-) and increased frequency of C2 RFLP (PstI-,RsaI+) in Chinese patients
CTD
RGD
PMID:18952117 PMID:19404342 PMID:14606109 RGD:4892244, RGD:1626302 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23391614 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G DDIT3 DNA damage inducible transcript 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr12:57,516,588...57,521,698
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:17526931 RGD:10400884 NCBI chr11:75,768,778...75,801,534
Ensembl chr11:75,759,512...75,801,535
JBrowse link
G DHRS7 dehydrogenase/reductase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr14:60,144,119...60,169,889
Ensembl chr14:60,144,119...60,169,856
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G F2 coagulation factor II, thrombin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008134 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F2R coagulation factor II thrombin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 PMID:22841818 NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770
JBrowse link
G FABP1 fatty acid binding protein 1 ISO Western diet-induced hepatic steatosis RGD PMID:17058218 RGD:1626440 NCBI chr 2:88,122,982...88,128,062
Ensembl chr 2:88,122,982...88,128,062
JBrowse link
G FGF21 fibroblast growth factor 21 severity EXP
IEP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:24184811 PMID:32195457 RGD:25330354 NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 severity IEP RGD PMID:32195457 RGD:25330354 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
JBrowse link
G FOXA1 forkhead box A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO mRNA:increased expression:liver (rat) RGD PMID:29534506 RGD:14695544 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
JBrowse link
G GCK glucokinase ISO associated with Hyperglycemia RGD PMID:22925001 PMID:22925001 RGD:7488945, RGD:7488945 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GGT1 gamma-glutamyltransferase 1 disease_progression IEP RGD PMID:19670414 RGD:14747016 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G GPT glutamic--pyruvic transaminase EXP
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:19481104 PMID:30185098 RGD:14975167 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO mRNA:increased expression:liver RGD PMID:15122758 RGD:14975241 NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
JBrowse link
G GPX1 glutathione peroxidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
JBrowse link
G GPX4 glutathione peroxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,994...1,106,791
JBrowse link
G GULOP gulonolactone (L-) oxidase, pseudogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 8:27,577,611...27,589,073
Ensembl chr 8:27,560,274...27,589,073
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 RGD PMID:7846063 RGD:1599882 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465
JBrowse link
G HAS3 hyaluronan synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27042213 NCBI chr16:69,083,484...69,118,719
Ensembl chr16:69,105,653...69,118,719
JBrowse link
G HFE homeostatic iron regulator no_association IAGP Non-alcoholic steatohepatitis (NASH) RGD PMID:12105842 RGD:1601460 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HHEX hematopoietically expressed homeobox EXP CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr10:92,689,955...92,695,647
Ensembl chr10:92,689,955...92,695,647
JBrowse link
G HM13 histocompatibility minor 13 ISO associated with hepatitis RGD PMID:27142248 RGD:40924634 NCBI chr20:31,514,442...31,569,543
Ensembl chr20:31,514,410...31,577,923
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: RGD PMID:23647685 RGD:11354957 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:7736406 PMID:31299271 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISS OMIM:228100 MouseDO NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IL10 interleukin 10 ISO associated with Diabetes Mellitus RGD PMID:18267346 RGD:2308948 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO RGD PMID:18802068 RGD:4145478 NCBI chr  X:115,003,982...115,017,616
Ensembl chr  X:115,003,975...115,019,977
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:19084941 RGD:4889416 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17436085 RGD:1626661 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)
RGD PMID:19205029 PMID:19076162 RGD:2307258, RGD:2307264 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INS insulin IEP
EXP
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9048448 PMID:18713300 RGD:2311137 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G INSIG1 insulin induced gene 1 severity ISO associated with Obesity;mRNA:increased expression:liver RGD PMID:15096598 PMID:15096598 RGD:2308857, RGD:2308857 NCBI chr 7:155,297,878...155,310,235
Ensembl chr 7:155,297,776...155,310,235
JBrowse link
G INSIG2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 2:118,088,471...118,110,997
Ensembl chr 2:118,088,452...118,110,997
JBrowse link
G INSR insulin receptor treatment ISO associated with obesity;human gene in mouse model
protein:decreased phosphorylation: liver (rat)
RGD PMID:30642871 PMID:25160038 PMID:22546076 RGD:14701028, RGD:14700926, RGD:14700935 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:22275361 RGD:6483019 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO RGD PMID:22367278 RGD:6893372 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
G LDLR low density lipoprotein receptor EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25554529 PMID:29459263 RGD:13703129 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G LEP leptin severity IEP
EXP
associated with morbid obesity;protein:decreased exprssion:serum (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12661780 PMID:19716478 PMID:23839791 PMID:24525044 PMID:25554529 More... RGD:21201250 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25367288 PMID:29743445 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LGALS3 galectin 3 ISS OMIM:228100 MouseDO NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
JBrowse link
G LRP6 LDL receptor related protein 6 ISS OMIM:228100 MouseDO NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 ameliorates ISO RGD PMID:26560698 RGD:11342977 NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21540183 RGD:9585751 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MAT1A methionine adenosyltransferase 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:12060674 NCBI chr10:80,271,820...80,289,658
Ensembl chr10:80,271,820...80,289,658
JBrowse link
G MC4R melanocortin 4 receptor ISS OMIM:228100 MouseDO NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MFN2 mitofusin 2 ISO protein:decreased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MIR10B microRNA 10b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 2:176,150,303...176,150,412
Ensembl chr 2:176,150,303...176,150,412
JBrowse link
G MIR125A microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
JBrowse link
G MIR134 microRNA 134 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:101,054,687...101,054,759
Ensembl chr14:101,054,687...101,054,759
JBrowse link
G MIR139 microRNA 139 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr11:72,615,063...72,615,130
Ensembl chr11:72,615,063...72,615,130
JBrowse link
G MIR148B microRNA 148b EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:54,337,216...54,337,314
Ensembl chr12:54,337,216...54,337,314
JBrowse link
G MIR150 microRNA 150 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr19:49,500,785...49,500,868
Ensembl chr19:49,500,785...49,500,868
JBrowse link
G MIR154 microRNA 154 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:101,059,755...101,059,838
Ensembl chr14:101,059,755...101,059,838
JBrowse link
G MIR17 microRNA 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr13:91,350,605...91,350,688
Ensembl chr13:91,350,605...91,350,688
JBrowse link
G MIR183 microRNA 183 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:129,774,905...129,775,014
Ensembl chr 7:129,774,905...129,775,014
JBrowse link
G MIR197 microRNA 197 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:109,598,893...109,598,967
Ensembl chr 1:109,598,893...109,598,967
JBrowse link
G MIR219A1 microRNA 219a-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:33,207,835...33,207,944
Ensembl chr 6:33,207,835...33,207,944
JBrowse link
G MIR22 microRNA 22 severity ISO
IEP
RGD PMID:32195457 PMID:32195457 RGD:25330354, RGD:25330354 NCBI chr17:1,713,903...1,713,987
Ensembl chr17:1,713,903...1,713,987
JBrowse link
G MIR224 microRNA 224 IEP associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) RGD PMID:25386083 RGD:18182925 NCBI chr  X:151,958,578...151,958,658
Ensembl chr  X:151,958,578...151,958,658
JBrowse link
G MIR320A microRNA 320a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr 8:22,244,966...22,245,037
Ensembl chr 8:22,244,962...22,245,043
JBrowse link
G MIR34A microRNA 34a EXP CTD Direct Evidence: marker/mechanism CTD PMID:23834033 NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777
JBrowse link
G MIR384 microRNA 384 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:76,919,273...76,919,360
Ensembl chr  X:76,919,273...76,919,360
JBrowse link
G MIR410 microRNA 410 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:101,065,912...101,065,991
Ensembl chr14:101,065,912...101,065,991
JBrowse link
G MIR449C microRNA 449c EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 5:55,172,262...55,172,353
Ensembl chr 5:55,172,262...55,172,353
JBrowse link
G MIR503 microRNA 503 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:134,546,328...134,546,398
Ensembl chr  X:134,546,328...134,546,398
JBrowse link
G MIR542 microRNA 542 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:134,541,341...134,541,437
Ensembl chr  X:134,541,341...134,541,437
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) RGD PMID:15834927 RGD:1580580 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTTP microsomal triglyceride transfer protein IEP
EXP
associated with Hepatitis C;mRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17303181 PMID:16697730 RGD:1625483 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: therapeutic CTD PMID:24210820 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NEIL1 nei like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:21285402 NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:28555106 PMID:22367278 RGD:6893372 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO RGD PMID:21643627 RGD:5135028 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO protein:increased activity:liver RGD PMID:17721935 RGD:5133249 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 1:26,911,489...26,913,975
Ensembl chr 1:26,911,489...26,913,975
JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23651738 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
severity
ISO
EXP
knockout eliminates treatment effectiveness
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29142166 PMID:12971955 PMID:23104131 RGD:15045573, RGD:14696795 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25182422 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487
JBrowse link
G NREP neuronal regeneration related protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 5:111,728,802...111,976,932
Ensembl chr 5:111,662,621...111,997,464
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit EXP CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G OTC ornithine transcarbamylase ISO protein:increased expression:serum (rat) RGD PMID:18823438 RGD:4144061 NCBI chr  X:38,352,604...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO RGD PMID:21756965 RGD:25440484 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PLAU plasminogen activator, urokinase ISS OMIM:228100 MouseDO NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PLIN2 perilipin 2 ISO
EXP
associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16439473 PMID:17484887 RGD:1625752 NCBI chr 9:19,108,388...19,127,492
Ensembl chr 9:19,108,375...19,149,290
JBrowse link
G PNPLA3 patatin like phospholipase domain containing 3 severity IAGP
EXP
associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
CTD Direct Evidence: marker/mechanism
associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human)
CTD
RGD
PMID:25678388 PMID:25284145 PMID:21319195 PMID:25678388 PMID:23564580 RGD:14981590, RGD:14981585, RGD:11055420, RGD:14981583 NCBI chr22:43,923,805...43,947,582
Ensembl chr22:43,923,792...43,964,488
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:167377 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26945512 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO
EXP
IEP
associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice
CTD Direct Evidence: therapeutic
associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)
CTD
RGD
PMID:19124612 PMID:21929649 PMID:16393287 RGD:5509939, RGD:15042851 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PPARD peroxisome proliferator activated receptor delta EXP CTD Direct Evidence: marker/mechanism CTD PMID:23851158 NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO RGD PMID:15112352 RGD:1580685 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO protein:decreased methylation:liver (rat) RGD PMID:22521344 PMID:23274094 PMID:23174781 RGD:7242179, RGD:7241844, RGD:7242012 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO RGD PMID:19162361 RGD:6484544 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
JBrowse link
G PRKCD protein kinase C delta IDA RGD PMID:17596878 RGD:1642523 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 1:109,399,042...109,426,448
Ensembl chr 1:109,399,042...109,426,448
JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:liver
CTD
RGD
PMID:27022031 PMID:15199412 PMID:18166358 RGD:1302555, RGD:2292522 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA,protein:increased expression:liver RGD PMID:21643627 RGD:5135028 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G PTMA prothymosin alpha EXP CTD Direct Evidence: therapeutic CTD PMID:15885234 NCBI chr 2:231,708,525...231,713,551
Ensembl chr 2:231,706,895...231,713,551
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO RGD PMID:21643627 RGD:5135028 NCBI chr11:65,653,601...65,662,916
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 EXP CTD Direct Evidence: therapeutic CTD PMID:26769846 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G SERPINA6 serpin family A member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389
JBrowse link
G SERPINE1 serpin family E member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:29684222 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SHC1 SHC adaptor protein 1 IEP associated with Obesity RGD PMID:17596878 RGD:1642523 NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
JBrowse link
G SIRT1 sirtuin 1 ISO
EXP
associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:21321189 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997 More... RGD:9585751 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SIRT6 sirtuin 6 EXP CTD Direct Evidence: therapeutic CTD PMID:28536482 NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566
JBrowse link
G SIRT7 sirtuin 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24210820 NCBI chr17:81,911,939...81,918,176
Ensembl chr17:81,911,939...81,921,323
JBrowse link
G SLC13A5 solute carrier family 13 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26303333 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
JBrowse link
G SLC22A8 solute carrier family 22 member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr11:62,992,824...63,015,841
Ensembl chr11:62,989,154...63,015,841
JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO mRNA, protein:increased expression RGD PMID:16248953 RGD:1625640 NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470
JBrowse link
G SLC2A2 solute carrier family 2 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12048068 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
JBrowse link
G SLCO1A2 solute carrier organic anion transporter family member 1A2 ISO RGD PMID:16139386 RGD:1598602 NCBI chr12:21,264,600...21,419,634
Ensembl chr12:21,264,600...21,419,594
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27349771 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:16799967 RGD:25671424 NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STS steroid sulfatase EXP CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358
JBrowse link
G SUOX sulfite oxidase ISO protein:decreased expression:liver RGD PMID:15144217 RGD:1600114 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641
JBrowse link
G TF transferrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TLR4 toll like receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:27022031 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TXN thioredoxin ISO RGD PMID:18578693 RGD:2306156 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507
JBrowse link
G UCP2 uncoupling protein 2 ISO
EXP
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10860543 PMID:21114362 RGD:7204423 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843
JBrowse link
G VDR vitamin D receptor ISO
IDA
RGD PMID:30905785 PMID:30905785 RGD:14402029, RGD:14402029 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G XBP1 X-box binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CHIT1 chitinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr 1:203,216,079...203,230,099
Ensembl chr 1:203,212,827...203,273,641
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP ClinVar Annotator: match by term: Gaucher disease ClinVar NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP
EXP
ISO
IMP
DNA:missense mutations, deletion:cds:multiple (human)
ClinVar Annotator: match by term: Gaucher disease
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: Kerasin thesaurismosis
DNA:mutations:cds, intron:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... RGD:12791017, RGD:12791018, RGD:5508431, RGD:5508423 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Gaucher disease
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: Kerasin thesaurismosis
ClinVar PMID:1301953 PMID:1348297 PMID:1487244 PMID:1558964 PMID:1704891 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G PKLR pyruvate kinase L/R IAGP DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:25741868 PMID:28492532 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G SNCA synuclein alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G TNF tumor necrosis factor severity IAGP DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP ClinVar Annotator: match by term: Gaucher disease, perinatal lethal
ClinVar Annotator: match by term: Gaucher disease perinatal lethal
ClinVar Annotator: match by term: Gaucher disease collodion type
ClinVar
OMIM
PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 More... NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Gaucher disease, perinatal lethal
ClinVar Annotator: match by term: Gaucher disease perinatal lethal
ClinVar Annotator: match by term: Gaucher disease collodion type
ClinVar PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 More... NCBI chr 1:155,233,639...155,240,092 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 IAGP ClinVar Annotator: match by term: Gaucher disease type I
ClinVar Annotator: match by term: Gaucher's disease, type 1
ClinVar Annotator: match by term: Gaucher disease, type I
ClinVar Annotator: match by term: GD I
OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Gaucher disease type I
ClinVar Annotator: match by term: Gaucher's disease, type 1
ClinVar PMID:1301953 PMID:1348297 PMID:1487244 PMID:1558964 PMID:1704891 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: GD I ClinVar PMID:22493294 NCBI chr 2:47,783,145...47,806,953
Ensembl chr 2:47,695,530...47,810,063
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 IAGP ClinVar Annotator: match by term: Gaucher disease type II
ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
ClinVar Annotator: match by term: Acute cerebral Gaucher disease
ClinVar Annotator: match by term: GD II
OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 More... NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: GD II
ClinVar Annotator: match by term: Gaucher disease type II
ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
ClinVar Annotator: match by term: Acute cerebral Gaucher disease
ClinVar PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chr 1:155,233,639...155,240,092 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 IAGP ClinVar Annotator: match by term: Gaucher disease type III
ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type
ClinVar Annotator: match by term: GD III
OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type
ClinVar Annotator: match by term: Gaucher disease type III
ClinVar PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chr 1:155,233,639...155,240,092 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 IAGP ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC
OMIM
ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC
ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency
ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16200072 More... NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP mucolipidosis IIIC/variant pseudo-hurler polydystrophy RGD PMID:10712439 RGD:1599045 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP RGD PMID:10973263 RGD:1599926 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
JBrowse link
G NEU1 neuraminidase 1 IAGP
ISS
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME
ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome
OMIM:256550
ClinVar
MouseDO
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
GM1 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 treatment IAGP
EXP
ISO
ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency
ClinVar Annotator: match by term: GLB1 DEFICIENCY
DNA:mutations:multiple:
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... RGD:1598983, RGD:12910453, RGD:11086251 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain IAGP ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar Annotator: match by term: GLB1 DEFICIENCY
ClinVar PMID:16941474 PMID:25741868 PMID:28492532 NCBI chr 3:33,090,422...33,097,146
Ensembl chr 3:33,090,421...33,097,146
JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 IAGP ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1
ClinVar Annotator: match by term: Gm1-gangliosidosis, type I, with cardiac involvement
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement
ClinVar
OMIM
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain IAGP ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More... NCBI chr 3:33,090,422...33,097,146
Ensembl chr 3:33,090,421...33,097,146
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 IAGP ClinVar Annotator: match by term: GM1 gangliosidosis type 2
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2
ClinVar
OMIM
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain IAGP ClinVar Annotator: match by term: GM1 gangliosidosis type 2 ClinVar PMID:16199547 PMID:16941474 PMID:18524657 PMID:25741868 PMID:28492532 NCBI chr 3:33,090,422...33,097,146
Ensembl chr 3:33,090,421...33,097,146
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 IAGP ClinVar Annotator: match by term: GM1 gangliosidosis type 3
ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 3
OMIM
ClinVar
PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 More... NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain IAGP ClinVar Annotator: match by term: GM1 gangliosidosis type 3 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More... NCBI chr 3:33,090,422...33,097,146
Ensembl chr 3:33,090,421...33,097,146
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 IAGP Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440
JBrowse link
G HEXA hexosaminidase subunit alpha IAGP ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 More... NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420
JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SNCB synuclein beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556
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 IAGP ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar
OMIM
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More... NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440
JBrowse link
G HEXA hexosaminidase subunit alpha IAGP ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 More... NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420
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 IAGP ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset ClinVar PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 More... NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420
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 IAGP ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 ClinVar PMID:1532289 NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420
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 IAGP ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G GALC galactosylceramidase IAGP
ISO
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar
OMIM
RGD
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... RGD:38599167 NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G PSAP prosaposin IAGP
ISS
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar
MouseDO
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
lysosomal and 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 IAGP ClinVar Annotator: match by term: Lysosomal acid lipase deficiency
ClinVar Annotator: match by term: Acid lipase disease
ClinVar
OMIM
PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 More... NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADM2 adrenomedullin 2 IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,481,543...50,486,437
Ensembl chr22:50,481,543...50,486,440
JBrowse link
G ARSA arylsulfatase A IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type
ClinVar Annotator: match by term: Cerebroside sulfatase deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency
ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe
ClinVar
OMIM
RGD
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 More... RGD:1358435, RGD:1358434 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G ARSB arylsulfatase B IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 More... NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CHKB choline kinase beta IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,959...50,601,455
JBrowse link
G CPT1B carnitine palmitoyltransferase 1B IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,568,861...50,578,612
Ensembl chr22:50,568,861...50,578,465
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G KLHDC7B kelch domain containing 7B IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,545,899...50,551,023
Ensembl chr22:50,545,899...50,551,023
JBrowse link
G LMF2 lipase maturation factor 2 IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,502,949...50,507,702
Ensembl chr22:50,502,949...50,507,702
JBrowse link
G MAL mal, T cell differentiation protein IAGP RGD PMID:15193296 RGD:1358761 NCBI chr 2:95,025,708...95,053,992
Ensembl chr 2:95,025,677...95,053,992
JBrowse link
G MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,600,793...50,613,978
Ensembl chr22:50,600,793...50,613,981
JBrowse link
G MIOX myo-inositol oxygenase IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,486,859...50,490,648
Ensembl chr22:50,486,784...50,490,648
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,508,224...50,524,780
Ensembl chr22:50,508,224...50,524,780
JBrowse link
G ODF3B outer dense fiber of sperm tails 3B IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr22:50,530,426...50,532,498
Ensembl chr22:50,529,710...50,532,506
JBrowse link
G PSAP