Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 protein complex AP-1, sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 5:137,063,847...137,074,962
Ensembl chr 5:137,063,847...137,074,989
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810
JBrowse link
G Asns asparagine synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 6:7,675,165...7,693,209
Ensembl chr 6:7,675,169...7,693,254
JBrowse link
G Depp1 DEPP1 autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 6:116,627,645...116,629,808
Ensembl chr 6:116,627,570...116,629,755
JBrowse link
G Fabp1 fatty acid binding protein 1, liver ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 6:71,176,863...71,182,018
Ensembl chr 6:71,176,811...71,182,007
JBrowse link
G Fads2 fatty acid desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr19:10,040,129...10,078,867
Ensembl chr19:10,040,129...10,079,110
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 5:31,449,586...31,453,279
Ensembl chr 5:31,449,586...31,453,424
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821
JBrowse link
G Hpn hepsin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 7:30,798,150...30,814,751
Ensembl chr 7:30,798,150...30,814,715
JBrowse link
G Inhbe inhibin beta-E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr10:127,185,271...127,187,717
Ensembl chr10:127,184,726...127,190,280
JBrowse link
G Lss lanosterol synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972
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 4:133,280,687...133,283,997
Ensembl chr 4:133,280,687...133,283,847
JBrowse link
G Nupr1 nuclear protein transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:126,222,418...126,224,642
Ensembl chr 7:126,222,421...126,230,033
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 6:115,337,840...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Scd2 stearoyl-Coenzyme A desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr19:44,282,115...44,295,303
Ensembl chr19:44,282,113...44,295,303
JBrowse link
G Serpina3b serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr12:104,094,245...104,105,805
Ensembl chr12:104,094,255...104,105,804
JBrowse link
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 6:122,704,768...122,779,322
Ensembl chr 6:122,704,768...122,778,599
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:17524234 RGD:2308821 NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO RGD PMID:17524234 RGD:2308821 NCBI chr15:82,031,470...82,089,580
Ensembl chr15:82,031,382...82,089,580
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 9:45,840,926...45,847,356
Ensembl chr 9:45,840,917...45,847,356
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr11:109,464,347...109,502,215
Ensembl chr11:109,464,157...109,502,793
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 chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO
IEP
RGD PMID:26115886 PMID:18755807 PMID:27220557 PMID:22013387 RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial severity
treatment
susceptibility
ISO
IEP
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 chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
JBrowse link
G C1qc complement component 1, q subcomponent, C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr 4:136,617,112...136,620,242
Ensembl chr 4:136,617,115...136,620,376
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 treatment IEP RGD PMID:25557254 RGD:14995489 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 treatment IEP RGD PMID:25557254 RGD:14995489 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 disease_progression IMP RGD PMID:27859576 RGD:14401742 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Cd36 CD36 molecule IMP RGD PMID:24280415 RGD:11041117 NCBI chr 5:17,986,688...18,093,957
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Ctsb cathepsin B ISO protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO
IEP
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26428356 PMID:25583360 PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
JBrowse link
G Dnmt1 DNA methyltransferase (cytosine-5) 1 IMP RGD PMID:22905112 RGD:9588654 NCBI chr 9:20,818,501...20,871,184
Ensembl chr 9:20,818,505...20,871,184
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
JBrowse link
G Mir155 microRNA 155 IMP RGD PMID:26867493 RGD:25671474 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO RGD PMID:17156888 RGD:1642369 NCBI chr11:59,861,440...59,937,394
Ensembl chr11:59,861,440...59,937,315
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO RGD PMID:11477087 RGD:1625694 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:18296740 RGD:7207884 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
JBrowse link
G Tlr4 toll-like receptor 4 severity IMP RGD PMID:29884546 PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment
ISO DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463 PMID:20143470 RGD:14995434, RGD:38508901 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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 5:3,739,999...3,853,124
Ensembl chr 5:3,740,000...3,852,925
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 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564
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 23 (otocadherin) ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency OMIM
ClinVar
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:9536098 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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 23 (otocadherin) ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29995202 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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 protein ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,318,999...74,324,833
Ensembl chr 1:74,318,999...74,323,897
JBrowse link
G Abcb6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036
JBrowse link
G Ankzf1 ankyrin repeat and zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,168,801...75,176,031
Ensembl chr 1:75,168,795...75,176,031
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,275,656...74,307,368
Ensembl chr 1:74,275,243...74,307,368
JBrowse link
G Asic4 acid-sensing (proton-gated) ion channel family member 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,426,467...75,450,984
Ensembl chr 1:75,427,080...75,450,987
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,157,505...75,168,654
Ensembl chr 1:75,157,504...75,168,840
JBrowse link
G Bcs1l BCS1-like (yeast) ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,401,272...74,408,482
Ensembl chr 1:74,401,267...74,408,480
JBrowse link
G Cdk5r2 cyclin-dependent kinase 5, regulatory subunit 2 (p39) ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,894,188...74,896,891
Ensembl chr 1:74,894,093...74,896,891
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,941,230...74,974,785
Ensembl chr 1:74,941,230...74,974,758
JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,451,213...75,456,115
Ensembl chr 1:75,451,213...75,455,951
JBrowse link
G Cnot9 CCR4-NOT transcription complex, subunit 9 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,545,192...74,570,001
Ensembl chr 1:74,545,217...74,570,001
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,112,406...75,119,374
Ensembl chr 1:75,111,198...75,119,355
JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,929,093...74,938,001
Ensembl chr 1:74,929,093...74,932,302
JBrowse link
G Ctdsp1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,430,274...74,436,444
Ensembl chr 1:74,430,668...74,436,444
JBrowse link
G Cxcr1 chemokine (C-X-C motif) receptor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,230,944...74,233,867
Ensembl chr 1:74,230,944...74,233,790
JBrowse link
G Cxcr2 chemokine (C-X-C motif) receptor 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,148...74,200,405
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:7915755 PMID:8006521 PMID:8014582 More... RGD:1600872 NCBI chr 1:74,752,311...74,777,056
Ensembl chr 1:74,752,733...74,777,051
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,285,209...75,294,298
Ensembl chr 1:75,284,540...75,294,634
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,920,660...74,924,632
Ensembl chr 1:74,920,668...74,924,578
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:10218527 PMID:10830906 PMID:10982180 PMID:11313763 PMID:11493200 More... NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,174,178...75,187,460
Ensembl chr 1:75,174,880...75,187,457
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,412,555...75,419,823
Ensembl chr 1:75,412,574...75,419,823
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,317,759...74,318,748
Ensembl chr 1:74,317,709...74,318,783
JBrowse link
G Ihh Indian hedgehog ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831
JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,433,469...74,433,553
Ensembl chr 1:74,433,469...74,433,553
JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,939,817...74,939,880
Ensembl chr 1:74,939,817...74,939,880
JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844
JBrowse link
G Obsl1 obscurin-like 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,462,469...75,483,143
Ensembl chr 1:75,455,954...75,483,096
JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,581,175...74,605,137
Ensembl chr 1:74,582,047...74,606,953
JBrowse link
G Pnkd paroxysmal nonkinesiogenic dyskinesia ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,323,757...74,392,851
Ensembl chr 1:74,324,089...74,392,853
JBrowse link
G Prkag3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 1:74,778,062...74,788,623
Ensembl chr 1:74,778,081...74,788,380
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 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,223,679...75,241,437
Ensembl chr 1:75,223,671...75,241,146
JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,248,841...75,255,059
Ensembl chr 1:75,248,843...75,255,059
JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,119,364...75,124,553
Ensembl chr 1:75,119,422...75,124,557
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,632,907...74,640,556
Ensembl chr 1:74,632,907...74,640,556
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
JBrowse link
G Slc23a3 solute carrier family 23 (nucleobase transporters), member 3 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,102,185...75,112,113
Ensembl chr 1:75,102,185...75,110,534
JBrowse link
G Speg SPEG complex locus ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,351,941...75,408,964
Ensembl chr 1:75,351,941...75,408,964
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,187,463...75,192,250
Ensembl chr 1:75,187,482...75,192,250
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,640,583...74,676,053
Ensembl chr 1:74,640,604...74,676,053
JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,327,406...74,343,495
Ensembl chr 1:74,327,406...74,344,781
JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,456,115...75,462,337
Ensembl chr 1:75,456,176...75,462,349
JBrowse link
G Ttll4 tubulin tyrosine ligase-like family, member 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,700,804...74,740,991
Ensembl chr 1:74,700,904...74,742,889
JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,191,616...75,197,905
Ensembl chr 1:75,190,872...75,196,509
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,474,669...74,583,447
Ensembl chr 1:74,474,670...74,583,443
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,448,543...74,474,719
Ensembl chr 1:74,448,535...74,474,718
JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
JBrowse link
G Wnt6 wingless-type MMTV integration site family, member 6 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 1:74,793,499...74,824,481
Ensembl chr 1:74,811,051...74,824,481
JBrowse link
G Zfand2b zinc finger, AN1 type domain 2B ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:75,145,290...75,148,270
Ensembl chr 1:75,145,290...75,148,273
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chr 1:74,605,490...74,627,308
Ensembl chr 1:74,604,286...74,627,405
JBrowse link
cholesterol ester storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lysosomal acid lipase A ISO ClinVar Annotator: match by term: Cholesteryl ester storage disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... RGD:1600621 NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
JBrowse link
G Tspo translocator protein ISO RGD PMID:29074640 RGD:150429771 NCBI chr15:83,447,774...83,458,404
Ensembl chr15:83,447,793...83,458,404
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Psap prosaposin ISO
IAGP
ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
OMIM:611721
OMIM
ClinVar
MouseDO
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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 IMP RGD PMID:11997462 RGD:1300259 NCBI chr14:21,102,622...21,498,637
Ensembl chr14:21,102,642...21,498,637
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 (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
JBrowse link
G Ar androgen receptor treatment IMP RGD PMID:25701874 RGD:11576234 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821
JBrowse link
G Gla galactosidase, alpha ISO
IAGP
DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease
OMIM:301500
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1315304 PMID:1315715 PMID:1650161 PMID:1677356 PMID:1753437 More... RGD:1601350, RGD:150429980 NCBI chr  X:133,488,918...133,501,875
Ensembl chr  X:133,488,898...133,501,874
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr  X:133,501,928...133,507,809
Ensembl chr  X:133,501,928...133,507,809
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Mylk2 myosin, light polypeptide kinase 2, skeletal muscle ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr 2:152,753,265...152,764,985
Ensembl chr 2:152,753,272...152,764,988
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 More... NCBI chr  X:133,488,918...133,501,875
Ensembl chr  X:133,488,898...133,501,874
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
IAGP
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
OMIM
ClinVar
MouseDO
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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, sub-family A (ABC1), member 1 treatment ISO
IEP
associated with adult growth hormone deficiency RGD PMID:15995177 PMID:26362727 PMID:30130150 RGD:1598534, RGD:21408552, RGD:18936993 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Abcc2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 ISO RGD PMID:16139386 RGD:1598602 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
JBrowse link
G Abcc3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 ISO mRNA, protein:increased expression:liver RGD PMID:17640958 RGD:2301064 NCBI chr11:94,234,121...94,283,843
Ensembl chr11:94,234,121...94,283,823
JBrowse link
G Acaca acetyl-Coenzyme A carboxylase alpha ISO RGD PMID:16485039 RGD:1625727 NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
JBrowse link
G Acacb acetyl-Coenzyme A carboxylase beta ISO RGD PMID:16485039 RGD:1625727 NCBI chr 5:114,284,378...114,388,822
Ensembl chr 5:114,284,596...114,388,822
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with hepatitis C;protein:increased expression:serum
protein:increased expression:plasma
RGD PMID:17006986 PMID:20714777 PMID:16115302 RGD:1599139, RGD:5686883, RGD:5686674 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:30225267 PMID:19076162 RGD:21406435, RGD:2307264 NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665
JBrowse link
G Adk adenosine kinase IAGP OMIM:228100 MouseDO NCBI chr14:21,102,622...21,498,637
Ensembl chr14:21,102,642...21,498,637
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO RGD PMID:11718682 RGD:1559320 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring IMP RGD PMID:17332477 RGD:14349048 NCBI chr 1:87,052,676...87,056,450
Ensembl chr 1:87,052,695...87,055,634
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr12:112,620,255...112,641,318
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney ISO associated with obesity RGD PMID:16197789 RGD:1601177 NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695
JBrowse link
G Angptl4 angiopoietin-like 4 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:28842503 PMID:15837923 RGD:1625354 NCBI chr17:33,993,874...34,000,549
Ensembl chr17:33,992,724...34,000,804
JBrowse link
G Apoa1 apolipoprotein A-I treatment ISO RGD PMID:30231880 RGD:25671436 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
JBrowse link
G Apob apolipoprotein B ISO mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12048068 PMID:17303181 PMID:17203948 RGD:2325770 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:32853627 PMID:29459263 RGD:13703129 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr15:80,139,385...80,141,746
Ensembl chr15:80,139,385...80,141,742
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr 8:22,482,799...22,550,632
Ensembl chr 8:22,482,801...22,550,321
JBrowse link
G Atpif1 ATPase inhibitory factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 4:132,257,866...132,262,784
Ensembl chr 4:132,257,866...132,260,970
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
JBrowse link
G Car3 carbonic anhydrase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 3:14,928,598...14,937,441
Ensembl chr 3:14,928,572...14,937,583
JBrowse link
G Cat catalase ISO protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10860543 PMID:21452373 RGD:5130871 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29684222 PMID:22983634 RGD:8548844 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 ISO
IEP
mRNA:increased expression:liver RGD PMID:28011329 PMID:28011329 RGD:14995306, RGD:14995306 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
JBrowse link
G Cd163 CD163 antigen ISO associated with hepatitis B;protein:increased expression:blood serum (human) RGD PMID:26339412 RGD:11251207 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
JBrowse link
G Cd36 CD36 molecule IEP RGD PMID:19788606 RGD:6893500 NCBI chr 5:17,986,688...18,093,957
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G Cebpb CCAAT/enhancer binding protein (C/EBP), beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
JBrowse link
G Ces1g carboxylesterase 1G EXP CTD Direct Evidence: marker/mechanism CTD PMID:24597639 NCBI chr 8:94,028,997...94,063,837
Ensembl chr 8:94,028,997...94,063,936
JBrowse link
G Cndp2 CNDP dipeptidase 2 (metallopeptidase M20 family) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:84,685,590...84,703,827
Ensembl chr18:84,685,590...84,703,827
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787813 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO protein:increased expression:liver (rat) RGD PMID:20347174 RGD:4144089 NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418
JBrowse link
G Creb1 cAMP responsive element binding protein 1 IMP RGD PMID:14614508 RGD:734818 NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707
JBrowse link
G Ctsb cathepsin B ISO mRNA, protein:increased expression, increased activity:liver, cytosol (rat) RGD PMID:18452148 RGD:2315513 NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11929713 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IEP mRNA:increased expression:liver (mouse) RGD PMID:31175967 RGD:25671414 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18952117 PMID:19404342 PMID:14606109 RGD:4892244, RGD:1626302 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23391614 NCBI chr 3:18,126,108...18,298,054
Ensembl chr 3:18,126,114...18,297,502
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:17526931 RGD:10400884 NCBI chr 7:98,802,870...98,831,920
Ensembl chr 7:98,802,865...98,831,926
JBrowse link
G Dhrs7 dehydrogenase/reductase (SDR family) member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr12:72,697,127...72,711,678
Ensembl chr12:72,697,127...72,711,683
JBrowse link
G Epas1 endothelial PAS domain protein 1 IMP RGD PMID:14608355 RGD:734934 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 NCBI chr 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
JBrowse link
G F2r coagulation factor II (thrombin) receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 PMID:22841818 NCBI chr13:95,738,288...95,754,974
Ensembl chr13:95,738,311...95,754,995
JBrowse link
G Fabp1 fatty acid binding protein 1, liver IAGP Western diet-induced hepatic steatosis; DNA:mutation::Fabp1 knockout mice RGD PMID:17058218 RGD:1626440 NCBI chr 6:71,176,863...71,182,018
Ensembl chr 6:71,176,811...71,182,007
JBrowse link
G Fgf21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:24184811 PMID:32195457 RGD:25330354 NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr 8:26,008,775...26,065,734
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088
JBrowse link
G Foxa1 forkhead box A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702
JBrowse link
G G6pc glucose-6-phosphatase, catalytic ISO mRNA:increased expression:liver (rat) RGD PMID:29534506 RGD:14695544 NCBI chr11:101,258,542...101,268,729
Ensembl chr11:101,258,387...101,268,729
JBrowse link
G Gck glucokinase ISO
IDA
associated with Hyperglycemia RGD PMID:22925001 PMID:22925001 RGD:7488945, RGD:7488945 NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:19670414 RGD:14747016 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 9:114,728,407...114,763,055
Ensembl chr 9:114,728,409...114,763,055
JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:19481104 PMID:30185098 RGD:14975167 NCBI chr15:76,580,926...76,583,875
Ensembl chr15:76,579,916...76,583,886
JBrowse link
G Gpt2 glutamic pyruvate transaminase (alanine aminotransferase) 2 IEP mRNA:increased expression:liver RGD PMID:15122758 RGD:14975241 NCBI chr 8:86,219,090...86,255,531
Ensembl chr 8:86,219,205...86,254,189
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273
JBrowse link
G Gulo gulonolactone (L-) oxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr14:66,224,235...66,246,703
Ensembl chr14:66,224,235...66,246,656
JBrowse link
G H13 histocompatibility 13 IMP associated with hepatitis RGD PMID:27142248 RGD:40924634 NCBI chr 2:152,511,292...152,550,588
Ensembl chr 2:152,511,381...152,550,590
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 RGD PMID:7846063 RGD:1599882 NCBI chr 5:30,324,421...30,359,978
Ensembl chr 5:30,323,302...30,360,160
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr 5:30,360,251...30,389,591
Ensembl chr 5:30,360,246...30,389,591
JBrowse link
G Has3 hyaluronan synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27042213 NCBI chr 8:107,596,874...107,609,534
Ensembl chr 8:107,596,874...107,611,198
JBrowse link
G Hfe homeostatic iron regulator no_association ISO non-alcoholic fatty liver disease
Non-alcoholic steatohepatitis (NASH)
RGD PMID:11473047 PMID:12105842 RGD:1601452, RGD:1601460 NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
JBrowse link
G Hhex hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr19:37,423,289...37,429,179
Ensembl chr19:37,423,258...37,429,179
JBrowse link
G Hspa5 heat shock protein 5 ISO associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: RGD PMID:23647685 RGD:11354957 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma IAGP OMIM:228100 MouseDO NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460
JBrowse link
G Il10 interleukin 10 ISO associated with Diabetes Mellitus RGD PMID:18267346 RGD:2308948 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il13ra2 interleukin 13 receptor, alpha 2 ISO RGD PMID:18802068 RGD:4145478 NCBI chr  X:146,166,474...146,214,982
Ensembl chr  X:146,166,472...146,212,188
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:19084941 RGD:4889416 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17436085 RGD:1626661 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il6 interleukin 6 ISO
IAGP
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)
associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)
RGD PMID:19076162 PMID:19205029 RGD:2307264, RGD:2307258 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Ins2 insulin II ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9048448 PMID:18713300 RGD:2311137 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
JBrowse link
G Insig1 insulin induced gene 1 severity IMP
ISO
associated with Obesity
associated with Obesity;mRNA:increased expression:liver
RGD PMID:15096598 PMID:15096598 RGD:2308857, RGD:2308857 NCBI chr 5:28,276,410...28,283,660
Ensembl chr 5:28,276,361...28,283,660
JBrowse link
G Insig2 insulin induced gene 2 severity IMP associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr 1:121,232,082...121,260,391
Ensembl chr 1:121,232,082...121,260,318
JBrowse link
G Insr insulin receptor treatment ISO associated with obesity;human gene in mouse model
protein:decreased phosphorylation: liver (rat)
RGD PMID:25160038 PMID:30642871 PMID:22546076 RGD:14700926, RGD:14701028, RGD:14700935 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
JBrowse link
G Jak2 Janus kinase 2 IMP RGD PMID:22275361 RGD:6483019 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
JBrowse link
G Keap1 kelch-like ECH-associated protein 1 IMP RGD PMID:22367278 RGD:6893372 NCBI chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657
JBrowse link
G Ldlr low density lipoprotein receptor ISO
IAGP
CTD Direct Evidence: marker/mechanism
OMIM:228100
CTD
MouseDO
RGD
PMID:25554529 PMID:29459263 RGD:13703129 NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
JBrowse link
G Lep leptin severity IAGP
ISO
IEP
OMIM:228100
CTD Direct Evidence: marker/mechanism
associated with morbid obesity;protein:decreased exprssion:serum (human)
MouseDO
CTD
RGD
PMID:12661780 PMID:19716478 PMID:23839791 PMID:24525044 PMID:25554529 More... RGD:21201250 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25367288 PMID:29743445 NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
JBrowse link
G Lgals3 lectin, galactose binding, soluble 3 IAGP OMIM:228100 MouseDO NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 IAGP OMIM:228100 MouseDO NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ameliorates IMP RGD PMID:26560698 RGD:11342977 NCBI chr18:4,331,325...4,352,978
Ensembl chr18:4,331,327...4,353,015
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IMP RGD PMID:21540183 RGD:9585751 NCBI chr14:33,099,855...33,169,215
Ensembl chr14:33,099,855...33,169,115
JBrowse link
G Mat1a methionine adenosyltransferase I, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12060674 NCBI chr14:40,826,969...40,846,385
Ensembl chr14:40,826,992...40,846,369
JBrowse link
G Mc4r melanocortin 4 receptor IAGP OMIM:228100 MouseDO NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577
JBrowse link
G Met met proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
JBrowse link
G Mfn2 mitofusin 2 ISO protein:decreased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
JBrowse link
G Mir10b microRNA 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 2:74,556,414...74,556,481
Ensembl chr 2:74,556,414...74,556,481
JBrowse link
G Mir125a microRNA 125a IDA RGD PMID:31988048 RGD:21403676 NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141
JBrowse link
G Mir134 microRNA 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:109,700,573...109,700,643
Ensembl chr12:109,700,573...109,700,643
JBrowse link
G Mir139 microRNA 139 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650
JBrowse link
G Mir148b microRNA 148b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr15:103,193,552...103,193,648
Ensembl chr15:103,193,552...103,193,648
JBrowse link
G Mir150 microRNA 150 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:44,771,181...44,771,245
Ensembl chr 7:44,771,181...44,771,245
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:109,704,867...109,704,932
Ensembl chr12:109,704,867...109,704,932
JBrowse link
G Mir17 microRNA 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186
JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:30,169,667...30,169,736
Ensembl chr 6:30,169,667...30,169,736
JBrowse link
G Mir219a-1 microRNA 219a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr17:34,243,957...34,244,066
Ensembl chr17:34,243,957...34,244,066
JBrowse link
G Mir22 microRNA 22 severity ISO
IDA
RGD PMID:32195457 PMID:32195457 RGD:25330354, RGD:25330354 NCBI chr11:75,354,542...75,354,636
Ensembl chr11:75,354,542...75,354,636
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:71,304,637...71,304,718
Ensembl chr  X:71,304,637...71,304,718
JBrowse link
G Mir320 microRNA 320 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031
JBrowse link
G Mir34a microRNA 34a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23834033 NCBI chr 4:150,152,911...150,153,012
Ensembl chr 4:150,152,911...150,153,012
JBrowse link
G Mir384 microRNA 384 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:104,387,888...104,387,975
Ensembl chr  X:104,387,888...104,387,975
JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr12:109,710,149...109,710,229
Ensembl chr12:109,710,149...109,710,229
JBrowse link
G Mir449c microRNA 449c ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr13:113,172,517...113,172,625
Ensembl chr13:113,172,517...113,172,625
JBrowse link
G Mir463 microRNA 463 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:65,842,829...65,842,903
Ensembl chr  X:65,842,829...65,842,903
JBrowse link
G Mir503 microRNA 503 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:52,142,861...52,142,931
Ensembl chr  X:52,142,861...52,142,931
JBrowse link
G Mir542 microRNA 542 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:52,138,280...52,138,364
Ensembl chr  X:52,138,280...52,138,364
JBrowse link
G Mir706 microRNA 706 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:120,011,189...120,011,272
Ensembl chr 6:120,011,189...120,011,272
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) RGD PMID:15834927 RGD:1580580 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO associated with Hepatitis C;mRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17303181 PMID:16697730 RGD:1625483 NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: therapeutic CTD PMID:24210820 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:21285402 NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:28555106 PMID:22367278 RGD:6893372 NCBI chr 2:75,505,857...75,535,007
Ensembl chr 2:75,505,857...75,534,985
JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO RGD PMID:21643627 RGD:5135028 NCBI chr 3:135,290,416...135,397,728
Ensembl chr 3:135,290,416...135,397,308
JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 ISO protein:increased activity:liver RGD PMID:17721935 RGD:5133249 NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 4:133,280,687...133,283,997
Ensembl chr 4:133,280,687...133,283,847
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr11:98,658,758...98,666,233
Ensembl chr11:98,658,758...98,666,159
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23651738 NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
severity
ISO
IMP
CTD Direct Evidence: marker/mechanism
knockout eliminates treatment effectiveness
CTD
RGD
PMID:29142166 PMID:12971955 PMID:23104131 RGD:15045573, RGD:14696795 NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25182422 NCBI chr16:38,068,711...38,115,211
Ensembl chr16:38,068,685...38,115,186
JBrowse link
G Nrep neuronal regeneration related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:33,570,072...33,597,444
Ensembl chr18:33,570,072...33,597,082
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chr10:52,293,643...52,316,288
Ensembl chr10:52,293,643...52,316,279
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
JBrowse link
G Otc ornithine transcarbamylase ISO protein:increased expression:serum (rat) RGD PMID:18823438 RGD:4144061 NCBI chr  X:10,118,500...10,187,263
Ensembl chr  X:10,118,544...10,187,263
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 IMP RGD PMID:21756965 RGD:25440484 NCBI chr 6:124,373,775...124,392,916
Ensembl chr 6:124,373,775...124,392,026
JBrowse link
G Plau plasminogen activator, urokinase IAGP OMIM:228100 MouseDO NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
JBrowse link
G Plin2 perilipin 2 IDA
ISO
associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16439473 PMID:17484887 RGD:1625752 NCBI chr 4:86,545,147...86,588,518
Ensembl chr 4:86,566,623...86,588,297
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 severity ISO CTD Direct Evidence: marker/mechanism
associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
CTD
RGD
PMID:25678388 PMID:25284145 PMID:25678388 PMID:21319195 PMID:23564580 RGD:14981590, RGD:11055420, RGD:14981585, RGD:14981583 NCBI chr15:84,051,977...84,073,722
Ensembl chr15:84,052,038...84,071,437
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:167377 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945512 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha IDA
IEP
ISO
associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice
associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:19124612 PMID:21929649 PMID:16393287 RGD:5509939, RGD:15042851 NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
JBrowse link
G Ppard peroxisome proliferator activator receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23851158 NCBI chr17:28,451,657...28,520,446
Ensembl chr17:28,451,674...28,520,448
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO RGD PMID:15112352 RGD:1580685 NCBI chr 6:115,337,840...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha treatment ISO
IDA
protein:decreased methylation:liver (rat) RGD PMID:23274094 PMID:22521344 PMID:23174781 RGD:7241844, RGD:7242179, RGD:7242012 NCBI chr 5:51,611,591...52,273,337
Ensembl chr 5:51,611,592...51,725,068
JBrowse link
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit IDA RGD PMID:19162361 RGD:6484544 NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380
JBrowse link
G Prkcd protein kinase C, delta ISO RGD PMID:17596878 RGD:1642523 NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167
JBrowse link
G Psma5 proteasome subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 3:108,164,242...108,187,268
Ensembl chr 3:108,164,242...108,187,290
JBrowse link
G Pten phosphatase and tensin homolog ISO
IAGP
IMP
protein:decreased expression:liver
OMIM:228100
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:27022031 PMID:18166358 PMID:15199412 RGD:2292522, RGD:1302555 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA,protein:increased expression:liver RGD PMID:21643627 RGD:5135028 NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15885234 NCBI chr 1:86,454,279...86,458,434
Ensembl chr 1:86,454,448...86,458,434
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO RGD PMID:21643627 RGD:5135028 NCBI chr19:5,687,569...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:26769846 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
JBrowse link
G Scd1 stearoyl-Coenzyme A desaturase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:21661758 NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
JBrowse link
G Serpina6 serine (or cysteine) peptidase inhibitor, clade A, member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr12:103,612,889...103,623,477
Ensembl chr12:103,612,889...103,623,471
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:29684222 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO associated with Obesity RGD PMID:17596878 RGD:1642523 NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334
JBrowse link
G Sirt1 sirtuin 1 IEP
IAGP
ISO
associated with Obesity
OMIM:228100
CTD Direct Evidence: marker/mechanism|therapeutic
MouseDO
CTD
RGD
PMID:21321189 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997 More... RGD:9585751 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:28536482 NCBI chr10:81,457,621...81,463,631
Ensembl chr10:81,457,619...81,463,631
JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24210820 NCBI chr11:120,509,197...120,515,840
Ensembl chr11:120,509,198...120,516,066
JBrowse link
G Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26303333 NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048
JBrowse link
G Slc22a8 solute carrier family 22 (organic anion transporter), member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr19:8,568,545...8,589,199
Ensembl chr19:8,568,618...8,589,199
JBrowse link
G Slc27a4 solute carrier family 27 (fatty acid transporter), member 4 ISO mRNA, protein:increased expression RGD PMID:16248953 RGD:1625640 NCBI chr 2:29,692,646...29,707,534
Ensembl chr 2:29,692,646...29,707,534
JBrowse link
G Slc2a2 solute carrier family 2 (facilitated glucose transporter), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12048068 NCBI chr 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 ISO RGD PMID:16139386 RGD:1598602 NCBI chr 6:141,751,164...141,802,011
Ensembl chr 6:141,751,166...141,801,925
JBrowse link
G Socs1 suppressor of cytokine signaling 1 IMP associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
JBrowse link
G Socs3 suppressor of cytokine signaling 3 IMP associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr11:117,856,905...117,860,192
Ensembl chr11:117,856,905...117,860,873
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:27349771 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IDA RGD PMID:16799967 RGD:25671424 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:168,856,332...169,015,037 JBrowse link
G Suox sulfite oxidase ISO protein:decreased expression:liver RGD PMID:15144217 RGD:1600114 NCBI chr10:128,505,756...128,509,787
Ensembl chr10:128,505,763...128,509,942
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:27022031 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Trf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
JBrowse link
G Txn1 thioredoxin 1 ISO RGD PMID:18578693 RGD:2306156 NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411
JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10860543 PMID:21114362 RGD:7204423 NCBI chr 7:100,142,544...100,148,836
Ensembl chr 7:100,142,544...100,151,227
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor IMP
ISO
RGD PMID:30905785 PMID:30905785 RGD:14402029, RGD:14402029 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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 (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Chit1 chitinase 1 (chitotriosidase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr 1:134,038,980...134,079,279
Ensembl chr 1:134,038,980...134,079,278
JBrowse link
G Elp1 elongator complex protein 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
JBrowse link
G Gba glucosidase, beta, acid ISO
IAGP
IMP
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 3:89,110,223...89,116,180
Ensembl chr 3:89,110,235...89,116,273
JBrowse link
G Il4 interleukin 4 IEP protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596
JBrowse link
G Snca synuclein, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosidase, beta, acid ISO ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal OMIM
ClinVar
PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 More... NCBI chr 3:89,110,223...89,116,180
Ensembl chr 3:89,110,235...89,116,273
JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosidase, beta, acid IAGP
ISO
OMIM:230800
ClinVar Annotator: match by term: Gaucher disease type I
MouseDO
ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chr 3:89,110,223...89,116,180
Ensembl chr 3:89,110,235...89,116,273
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Gaucher disease type I ClinVar PMID:22493294 NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320
JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosidase, beta, acid IAGP
ISO
OMIM:230900
ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
MouseDO
ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 More... NCBI chr 3:89,110,223...89,116,180
Ensembl chr 3:89,110,235...89,116,273
JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosidase, beta, acid ISO ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chr 3:89,110,223...89,116,180
Ensembl chr 3:89,110,235...89,116,273
JBrowse link
Gaucher's disease type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosidase, beta, acid ISO ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome OMIM
ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 3:89,110,223...89,116,180
Ensembl chr 3:89,110,235...89,116,273
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 chr10:88,305,376...88,339,855
Ensembl chr10:88,288,607...88,339,935
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16200072 More... NCBI chr10:88,214,996...88,283,186
Ensembl chr10:88,214,994...88,283,191
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr17:25,451,324...25,459,302
Ensembl chr17:25,452,305...25,459,098
JBrowse link
G Mcoln1 mucolipin 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232
JBrowse link
G Neu1 neuraminidase 1 IAGP
ISO
OMIM:256550
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis
MouseDO
ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929
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 ISO
IAGP
IDA
ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis
CTD Direct Evidence: marker/mechanism
OMIM:230500 | OMIM:230600 | OMIM:230650
DNA:mutations:multiple:
ClinVar
CTD
MouseDO
RGD
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... RGD:1598983, RGD:11086251, RGD:12910453 NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis ClinVar PMID:16941474 PMID:25741868 PMID:28492532 NCBI chr 9:114,230,163...114,240,269
Ensembl chr 9:114,230,173...114,236,344
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 ISO ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
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:16941474 PMID:17576681 More... NCBI chr 9:114,230,163...114,240,269
Ensembl chr 9:114,230,173...114,236,344
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 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2 ClinVar PMID:16199547 PMID:16941474 PMID:18524657 PMID:25741868 PMID:28492532 NCBI chr 9:114,230,163...114,240,269
Ensembl chr 9:114,230,173...114,236,344
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 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
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 9:114,230,163...114,240,269
Ensembl chr 9:114,230,173...114,236,344
JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator protein ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr11:54,988,811...55,003,855
Ensembl chr11:54,988,941...55,003,855
JBrowse link
G Hexa hexosaminidase A ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 More... NCBI chr 9:59,446,574...59,472,392
Ensembl chr 9:59,446,823...59,472,392
JBrowse link
G Snca synuclein, alpha IEP protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839
JBrowse link
G Sncb synuclein, beta IEP protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408
JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator protein ISO
IAGP
ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
OMIM:272750
OMIM
ClinVar
MouseDO
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More... NCBI chr11:54,988,811...55,003,855
Ensembl chr11:54,988,941...55,003,855
JBrowse link
G Hexa hexosaminidase A 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 9:59,446,574...59,472,392
Ensembl chr 9:59,446,823...59,472,392
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 A ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset ClinVar PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 More... NCBI chr 9:59,446,574...59,472,392
Ensembl chr 9:59,446,823...59,472,392
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 A ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 ClinVar PMID:1532289 NCBI chr 9:59,446,574...59,472,392
Ensembl chr 9:59,446,823...59,472,392
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 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Galc galactosylceramidase ISO
IMP
IAGP
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
OMIM
ClinVar
MouseDO
RGD
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... RGD:38599167 NCBI chr12:98,168,543...98,226,565
Ensembl chr12:98,168,553...98,225,718
JBrowse link
G Psap prosaposin IAGP
ISO
OMIM:245200
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
MouseDO
ClinVar
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
JBrowse link
lysosomal and lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lysosomal acid lipase A ISO
IAGP
ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency
OMIM:278000
OMIM
ClinVar
MouseDO
PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 More... NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,206,923...89,208,934
Ensembl chr15:89,206,923...89,208,934
JBrowse link
G Arsa arylsulfatase A ISO
IAGP
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
OMIM:249900 | OMIM:250100
ClinVar
MouseDO
OMIM
RGD
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 More... RGD:1358434, RGD:1358435 NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628
JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 More... NCBI chr13:93,908,187...94,079,524
Ensembl chr13:93,908,138...94,079,524
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,310,552...89,314,130
Ensembl chr15:89,310,563...89,314,111
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1b, muscle ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,300,608...89,310,065
Ensembl chr15:89,300,608...89,310,066
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,268,262...89,274,025
Ensembl chr15:89,269,120...89,273,070
JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,235,207...89,239,862
Ensembl chr15:89,235,207...89,239,862
JBrowse link
G Mal myelin and lymphocyte protein, T cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 2:127,475,146...127,498,615
Ensembl chr 2:127,475,146...127,498,615
JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,338,114...89,346,650
Ensembl chr15:89,338,116...89,348,671
JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,218,676...89,221,210
Ensembl chr15:89,218,601...89,221,218
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,239,902...89,257,053
Ensembl chr15:89,239,922...89,257,029
JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,261,650...89,263,457
Ensembl chr15:89,261,652...89,263,790
JBrowse link
G Psap prosaposin IAGP
ISO
OMIM:249900 | OMIM:250100
ClinVar Annotator: match by term: Metachromatic leukodystrophy
MouseDO
ClinVar
PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514
JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,255,833...89,258,094
Ensembl chr15:89,255,840...89,258,049
JBrowse link
G Scp2 sterol carrier protein 2, liver ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 4:107,901,027...108,002,168
Ensembl chr 4:107,901,036...108,002,195
JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,274,377...89,294,706
Ensembl chr15:89,274,377...89,294,706
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chr15:89,255,834...89,261,239
Ensembl chr15:89,256,134...89,261,242
JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 IAGP OMIM:251850 MouseDO NCBI chr 4:137,047,007...137,085,070
Ensembl chr 4:137,047,007...137,085,031
JBrowse link
G Myo5b myosin VB ISO
IAGP
ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy
OMIM:251850
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 More... NCBI chr18:74,575,435...74,905,769
Ensembl chr18:74,574,007...74,904,564
JBrowse link
mucolipidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 More... NCBI chr10:88,214,996...88,283,186
Ensembl chr10:88,214,994...88,283,191
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:24033266 PMID:25741868 NCBI chr17:25,451,324...25,459,302
Ensembl chr17:25,452,305...25,459,098
JBrowse link
G Mcoln1 mucolipin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucolipidosis
CTD
ClinVar
PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 More... NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232
JBrowse link
mucolipidosis II alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ISO
IAGP
ClinVar Annotator: match by term: Mucolipidosis type II
OMIM:252500
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chr10:88,214,996...88,283,186
Ensembl chr10:88,214,994...88,283,191
JBrowse link
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ISO ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical ClinVar PMID:15633164 PMID:28492532 NCBI chr10:88,214,996...88,283,186
Ensembl chr10:88,214,994...88,283,191
JBrowse link
mucolipidosis III alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy OMIM
ClinVar
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16200072 More... NCBI chr10:88,214,996...88,283,186
Ensembl chr10:88,214,994...88,283,191
JBrowse link
mucolipidosis III gamma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit ISO ClinVar Annotator: match by term: Mucolipidosis type III gamma OMIM
ClinVar
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 More... NCBI chr17:25,451,324...25,459,302
Ensembl chr17:25,452,305...25,459,098
JBrowse link
G Unkl unkempt family like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis type III gamma ClinVar NCBI chr17:25,407,336...25,453,417
Ensembl chr17:25,407,371...25,453,417
JBrowse link
mucolipidosis type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin 1 ISO
IAGP
ClinVar Annotator: match by term: Mucolipidosis type IV
OMIM:252650
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 More... NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267
JBrowse link
mucosulfatidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sumf1 sulfatase modifying factor 1 IAGP OMIM:272200 MouseDO NCBI chr 6:108,083,982...108,162,552
Ensembl chr 6:108,083,989...108,162,543
JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:12757706 NCBI chr 5:129,875,807...129,892,792
Ensembl chr 5:129,875,827...129,892,891
JBrowse link
Neuraminidase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: ML I | ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I OMIM
ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929
JBrowse link
neuronal ceroid lipofuscinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:181,134,999...181,136,773
Ensembl chr 2:181,134,999...181,136,773
JBrowse link
G Adrm1 adhesion regulating molecule 1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:179,813,381...179,818,076
Ensembl chr 2:179,813,278...179,818,079
JBrowse link
G Ap2a2 adaptor-related protein complex 2, alpha 2 subunit ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,142,093...141,212,924
Ensembl chr 7:141,142,086...141,212,924
JBrowse link
G Apbb1 amyloid beta (A4) precursor protein-binding, family B, member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,207,672...105,231,151
Ensembl chr 7:105,207,690...105,230,860
JBrowse link
G Apobr apolipoprotein B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,184,092...126,188,297
Ensembl chr 7:126,184,114...126,188,284
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,608,290...180,624,319
Ensembl chr 2:180,609,018...180,624,319
JBrowse link
G Arfip2 ADP-ribosylation factor interacting protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,283,408...105,289,623
Ensembl chr 7:105,283,410...105,289,623
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:180,999,483...181,007,197
Ensembl chr 2:180,999,483...181,007,197
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor (GEF) 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:15024724 PMID:28116333 PMID:28492532 NCBI chr 8:14,956,405...15,051,085
Ensembl chr 8:14,961,663...15,051,085
JBrowse link
G Arsg arylsulfatase G ISO Lysosomal storage disease, ARSG related OMIA PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 More... NCBI chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156
JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,520,559...142,523,001
Ensembl chr 7:142,520,566...142,523,001
JBrowse link
G Atp13a2 ATPase type 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022275 PMID:22847264 NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641
JBrowse link
G Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280
JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609
JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,416,174...180,418,693
Ensembl chr 2:180,416,174...180,418,693
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 (livin) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,570,402...180,575,803
Ensembl chr 2:180,570,816...180,575,803
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,503,488...141,557,981
Ensembl chr 7:141,503,488...141,557,984
JBrowse link
G Cables2 CDK5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:179,900,332...179,915,283
Ensembl chr 2:179,900,333...179,915,289
JBrowse link
G Cavin3 caveolae associated 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,129,823...105,131,404
Ensembl chr 7:105,129,290...105,131,507
JBrowse link
G Cckbr cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,074,882...105,085,546
Ensembl chr 7:105,074,938...105,120,105
JBrowse link
G Cd151 CD151 antigen ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,047,275...141,051,394
Ensembl chr 7:141,047,305...141,051,386
JBrowse link
G Cd19 CD19 antigen ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
JBrowse link
G Cd81 CD81 antigen ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,848,993...140,856,708
Ensembl chr 7:140,848,996...140,856,699
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C (P57) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:143,012,076...143,014,802
Ensembl chr 7:143,012,076...143,014,787
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,006,359...141,009,475
Ensembl chr 7:141,006,359...141,009,404
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,073,049...141,119,818
Ensembl chr 7:141,073,049...141,119,770
JBrowse link
G Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:180,664,104...180,685,365
Ensembl chr 2:180,660,173...180,685,339
JBrowse link
G Clcn3 chloride channel, voltage-sensitive 3 IMP RGD PMID:12059962 RGD:734783 NCBI chr 8:61,363,423...61,436,353
Ensembl chr 8:61,363,423...61,436,334
JBrowse link
G Cln3 ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD
ClinVar
PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More... NCBI chr 7:126,170,379...126,184,989
Ensembl chr 7:126,170,379...126,184,989
JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11727201 PMID:11971870 More... NCBI chr14:103,307,652...103,315,066
Ensembl chr14:103,307,652...103,315,064
JBrowse link
G Cln6 ceroid-lipofuscinosis, neuronal 6 IAGP
ISO
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... RGD:1358512, RGD:11064442, RGD:1358512 NCBI chr 9:62,746,067...62,759,288
Ensembl chr 9:62,746,067...62,759,288
JBrowse link
G Cln8 CLN8 transmembrane ER and ERGIC protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD
ClinVar
PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr 8:14,931,335...14,951,720
Ensembl chr 8:14,931,335...14,951,720
JBrowse link
G Cnga4 cyclic nucleotide gated channel alpha 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,049,247...105,057,981
Ensembl chr 7:105,053,775...105,057,949
JBrowse link
G Col20a1 collagen, type XX, alpha 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,626,629...180,659,338
Ensembl chr 2:180,628,328...180,660,156
JBrowse link
G Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982
JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,041,007...141,046,526
Ensembl chr 7:141,041,007...141,046,526
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:17576681 More... NCBI chr 7:141,929,647...141,941,564
Ensembl chr 7:141,929,648...141,941,775
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chr19:4,905,153...4,910,946
Ensembl chr19:4,905,158...4,910,946
JBrowse link
G Deaf1 DEAF1, transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,877,089...140,918,758
Ensembl chr 7:140,877,093...140,907,603
JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,299,756...180,351,886
Ensembl chr 2:180,299,757...180,351,792
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:17576681 PMID:19822871 PMID:23360469 PMID:24811917 More... NCBI chr 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926
JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,299,983...105,371,007
Ensembl chr 7:105,300,034...105,371,006
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,871,887...140,876,377
Ensembl chr 7:140,871,919...140,876,377
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:141,633,224...141,649,799
Ensembl chr 7:141,633,227...141,649,580
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr14:104,052,051...104,083,248
Ensembl chr14:104,052,061...104,081,838
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807
JBrowse link
G Eif3c eukaryotic translation initiation factor 3, subunit C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 7:126,146,083...126,165,538
Ensembl chr 7:126,145,627...126,165,583
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:140,918,824...140,942,933
Ensembl chr 7:140,918,793...140,942,933
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr14:103,317,675...103,337,036
Ensembl chr14:103,317,675...103,337,002
JBrowse link
G Fhip1b FHF complex subunit HOOK interacting protein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 7:105,020,418...105,049,349
Ensembl chr 7:105,020,418...105,049,261
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 2:180,854,385...180,864,649
Ensembl chr 2:180,861,806...180,864,647
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar</