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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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lipid storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chrNW_004955456:16,127,877...16,134,039
Ensembl chrNW_004955456:16,127,877...16,134,039
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086
JBrowse link
G Depp1 DEPP autophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chrNW_004955546:2,291,829...2,293,375
Ensembl chrNW_004955546:2,291,829...2,293,375
JBrowse link
G Fads2 fatty acid desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chrNW_004955511:5,827,797...5,842,745
Ensembl chrNW_004955511:5,827,797...5,842,760
JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chrNW_004955469:9,456,964...9,459,721
Ensembl chrNW_004955469:9,456,236...9,459,721
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chrNW_004955493:6,876,943...6,883,716
Ensembl chrNW_004955493:6,877,486...6,883,698
JBrowse link
G Hpn hepsin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chrNW_004955468:4,384,630...4,399,881
Ensembl chrNW_004955468:4,384,630...4,400,379
JBrowse link
G Inhbe inhibin subunit beta E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chrNW_004955458:5,177,036...5,179,095
Ensembl chrNW_004955458:5,177,036...5,179,095
JBrowse link
G Lss lanosterol synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
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 chrNW_004955452:6,251,047...6,253,541
Ensembl chrNW_004955452:6,250,889...6,254,541
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chrNW_004955493:6,746,380...6,747,763
Ensembl chrNW_004955493:6,746,380...6,747,763
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
JBrowse link
G Serpina3 serpin family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chrNW_004955438:17,758,763...17,766,113
Ensembl chrNW_004955438:17,758,718...17,766,180
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:17524234 RGD:2308821 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:17524234 RGD:2308821 NCBI chrNW_004955413:27,271,717...27,326,655
Ensembl chrNW_004955413:27,271,953...27,326,759
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chrNW_004955412:18,523,469...18,529,285
Ensembl chrNW_004955412:18,523,469...18,529,285
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chrNW_004955478:4,309,975...4,341,107
Ensembl chrNW_004955478:4,309,880...4,343,934
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 chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO RGD PMID:18755807 PMID:22013387 PMID:26115886 PMID:27220557 RGD:25330099 RGD:25440493 RGD:25824939 RGD:25824943 NCBI chrNW_004955454:4,243,898...4,327,255
Ensembl chrNW_004955454:4,243,898...4,327,308
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member susceptibility
severity
treatment
ISO DNA:missense mutation:cds:p.E504K (human)
human transgene in mouse model
protein:altered processing:liver (mouse)
RGD PMID:17058263 PMID:25457208 PMID:29063269 PMID:29156373 RGD:14696776 RGD:15036805 RGD:15036811 RGD:1599041 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ISO protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chrNW_004955452:2,759,079...2,762,522
Ensembl chrNW_004955452:2,758,821...2,762,522
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chrNW_004955420:25,641,184...25,664,413 JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
JBrowse link
G Ctsb cathepsin B ISO protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
JBrowse link
G Ldlr low density lipoprotein receptor ISO protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:24064383 PMID:25583360 PMID:26428356 RGD:14700870 RGD:14700884 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO RGD PMID:17156888 RGD:1642369 NCBI chrNW_004955577:365,031...443,138
Ensembl chrNW_004955577:367,288...443,138
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:11477087 RGD:1625694 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:18296740 RGD:7207884 NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
JBrowse link
G Tlr4 toll like receptor 4 severity ISO RGD PMID:21463341 PMID:29884546 RGD:14697697 RGD:14700554 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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 chrNW_004955432:9,220,318...9,358,728
Ensembl chrNW_004955432:9,220,318...9,358,728
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 chrNW_004955432:9,168,678...9,219,947
Ensembl chrNW_004955432:9,171,216...9,219,946
JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
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 chrNW_004955437:19,667,252...19,683,669 JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
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 chrNW_004955437:19,667,252...19,683,669 JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio associated migratory cell protein ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:15,104,229...15,109,487
Ensembl chrNW_004955453:15,104,229...15,112,468
JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 (Langereis blood group) ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172
JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,196,728...14,204,344
Ensembl chrNW_004955453:14,196,927...14,203,826
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 chrNW_004955453:15,117,978...15,145,895
Ensembl chrNW_004955453:15,116,093...15,146,041
JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:13,937,745...13,961,664
Ensembl chrNW_004955453:13,935,826...13,961,664
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,203,798...14,214,760
Ensembl chrNW_004955453:14,206,065...14,213,729
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:15,008,225...15,015,030
Ensembl chrNW_004955453:15,008,368...15,015,520
JBrowse link
G Cdk5r2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,471,625...14,474,082
Ensembl chrNW_004955453:14,472,757...14,473,896
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,394,853...14,431,774
Ensembl chrNW_004955453:14,397,700...14,433,204
JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:13,932,822...13,937,587
Ensembl chrNW_004955453:13,932,822...13,939,350
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,819,007...14,845,879
Ensembl chrNW_004955453:14,816,910...14,845,912
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,263,619...14,270,701
Ensembl chrNW_004955453:14,264,707...14,270,732
JBrowse link
G Cryba2 crystallin beta A2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,438,658...14,444,469
Ensembl chrNW_004955453:14,441,007...14,444,497
JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,971,276...14,976,667
Ensembl chrNW_004955453:14,968,484...14,976,667
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:15,181,027...15,196,224
Ensembl chrNW_004955453:15,194,205...15,195,272
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
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 chrNW_004955453:14,147,286...14,154,396
Ensembl chrNW_004955453:14,148,070...14,154,670
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,072,924...14,082,222
Ensembl chrNW_004955453:14,072,924...14,082,222
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,449,352...14,453,145
Ensembl chrNW_004955453:14,449,352...14,452,663
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 chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Glb1l galactosidase beta 1 like ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,185,582...14,196,779
Ensembl chrNW_004955453:14,185,692...14,196,779
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:13,967,118...13,974,351
Ensembl chrNW_004955453:13,965,174...13,974,789
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Cholestanol storage disease OMIM
ClinVar
PMID:2019602 PMID:7697869 PMID:7915755 PMID:8006521 PMID:8014582 More... NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102007967 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383
JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:13,905,992...13,932,652
Ensembl chrNW_004955453:13,906,013...13,925,681
JBrowse link
G Plcd4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,775,119...14,812,872
Ensembl chrNW_004955453:14,787,677...14,806,485
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:15,030,436...15,104,084
Ensembl chrNW_004955453:15,030,436...15,104,084
JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chrNW_004955453:14,584,405...14,594,112
Ensembl chrNW_004955453:14,584,412...14,595,369
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 chrNW_004955493:7,144,389...7,148,613 JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,126,416...14,145,347
Ensembl chrNW_004955453:14,126,416...14,145,347
JBrowse link
G Resp18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,106,430...14,111,920 JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,258,523...14,263,573
Ensembl chrNW_004955453:14,258,523...14,263,573
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,753,575...14,761,617
Ensembl chrNW_004955453:14,753,575...14,761,617
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
JBrowse link
G Slc23a3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,271,343...14,278,233
Ensembl chrNW_004955453:14,271,343...14,278,233
JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:13,979,080...14,033,718
Ensembl chrNW_004955453:13,976,674...14,033,252
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,182,167...14,185,569
Ensembl chrNW_004955453:14,182,066...14,185,584
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,727,779...14,753,534
Ensembl chrNW_004955453:14,728,583...14,753,534
JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:15,083,179...15,100,197
Ensembl chrNW_004955453:15,092,522...15,099,021
JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:13,925,939...13,932,557
Ensembl chrNW_004955453:13,924,608...13,932,557
JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,679,945...14,720,025 JBrowse link
G Tuba4a tubulin alpha 4a ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,177,043...14,180,814
Ensembl chrNW_004955453:14,175,866...14,182,023
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,846,044...14,931,336
Ensembl chrNW_004955453:14,846,044...14,931,336
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,935,450...14,961,011
Ensembl chrNW_004955453:14,935,456...14,961,011
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chrNW_004955453:14,547,427...14,560,001
Ensembl chrNW_004955453:14,545,700...14,560,976
JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,222,423...14,225,681
Ensembl chrNW_004955453:14,221,002...14,225,681
JBrowse link
G Znf142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:28492532 NCBI chrNW_004955453:14,766,665...14,786,403 JBrowse link
cholesterol ester storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Cholesteryl ester storage disease ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
JBrowse link
G Tspo translocator protein ISO RGD PMID:29074640 RGD:150429771 NCBI chrNW_004955413:28,309,105...28,315,075
Ensembl chrNW_004955413:28,308,658...28,315,075
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 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 chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency OMIM
ClinVar
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
Congenital Visceral Steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO RGD PMID:11997462 RGD:1300259 NCBI chrNW_004955437:17,279,541...17,786,140
Ensembl chrNW_004955437:17,279,240...17,786,079
JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease OMIM
ClinVar
PMID:1315304 PMID:1315715 PMID:1650161 PMID:1677356 PMID:1753437 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chrNW_004955503:7,535,987...7,541,622 JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chrNW_004955422:29,141,699...29,154,927
Ensembl chrNW_004955422:29,141,348...29,154,927
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 More... NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
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 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
ClinVar
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
fatty liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 treatment ISO associated with adult growth hormone deficiency RGD PMID:15995177 PMID:26362727 PMID:30130150 RGD:1598534 RGD:18936993 RGD:21408552 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO RGD PMID:16139386 RGD:1598602 NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 ISO mRNA, protein:increased expression:liver RGD PMID:17640958 RGD:2301064 NCBI chrNW_004955451:11,087,246...11,130,108
Ensembl chrNW_004955451:11,087,570...11,130,482
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO RGD PMID:16485039 RGD:1625727 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO RGD PMID:16485039 RGD:1625727 NCBI chrNW_004955455:10,282,308...10,427,439
Ensembl chrNW_004955455:10,308,192...10,426,076
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma
associated with hepatitis C;protein:increased expression:serum
RGD PMID:16115302 PMID:17006986 PMID:20714777 RGD:1599139 RGD:5686674 RGD:5686883 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19076162 PMID:30225267 RGD:21406435 RGD:2307264 NCBI chrNW_004955454:4,243,898...4,327,255
Ensembl chrNW_004955454:4,243,898...4,327,308
JBrowse link
G Adk adenosine kinase ISO OMIM:228100 MouseDO NCBI chrNW_004955437:17,279,541...17,786,140
Ensembl chrNW_004955437:17,279,240...17,786,079
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO RGD PMID:11718682 RGD:1559320 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO associated with obesity RGD PMID:16197789 RGD:1601177 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226
JBrowse link
G Angptl4 angiopoietin like 4 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15837923 PMID:28842503 RGD:1625354 NCBI chrNW_004955563:1,024,163...1,030,816
Ensembl chrNW_004955563:1,021,414...1,029,894
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO RGD PMID:30231880 RGD:25671436 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
CTD
RGD
PMID:12048068 PMID:17203948 PMID:17303181 RGD:2325770 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:29459263 PMID:32853627 RGD:13703129 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chrNW_004955413:25,406,589...25,408,727
Ensembl chrNW_004955413:25,406,589...25,412,218
JBrowse link
G Atp5if1 ATP synthase inhibitory factor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chrNW_004955452:7,372,917...7,375,072
Ensembl chrNW_004955452:7,373,001...7,375,856
JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616
JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
JBrowse link
G Ca3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chrNW_004955417:3,362,091...3,372,270
Ensembl chrNW_004955417:3,362,492...3,372,932
JBrowse link
G Cat catalase ISO protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10860543 PMID:21452373 RGD:5130871 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:liver RGD PMID:28011329 RGD:14995306 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19788606 RGD:6893500 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
JBrowse link
G Cebpb CCAAT enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chrNW_004955445:8,060,432...8,061,289 JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chrNW_004955402:57,939,003...57,960,056
Ensembl chrNW_004955402:57,938,276...57,960,056
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787813 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO protein:increased expression:liver (rat) RGD PMID:20347174 RGD:4144089 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:14614508 RGD:734818 NCBI chrNW_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149
JBrowse link
G Ctsb cathepsin B ISO mRNA, protein:increased expression, increased activity:liver, cytosol (rat) RGD PMID:18452148 RGD:2315513 NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chrNW_004955458:5,232,979...5,238,513
Ensembl chrNW_004955458:5,232,979...5,238,513
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:17526931 RGD:10400884 NCBI chrNW_004955414:16,059,781...16,089,727
Ensembl chrNW_004955414:16,059,781...16,089,727
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G F2r coagulation factor II thrombin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 PMID:22841818 NCBI chrNW_004955425:24,144,905...24,164,498 JBrowse link
G Fgf21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:24184811 PMID:32195457 RGD:25330354 NCBI chrNW_004955559:1,818,400...1,821,423
Ensembl chrNW_004955559:1,817,110...1,820,417
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chrNW_004955456:16,057,158...16,060,623
Ensembl chrNW_004955456:16,038,221...16,060,623
JBrowse link
G Foxa1 forkhead box A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO mRNA:increased expression:liver (rat) RGD PMID:29534506 RGD:14695544 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Gck glucokinase ISO associated with Hyperglycemia RGD PMID:22925001 RGD:7488945 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:19670414 RGD:14747016 NCBI chrNW_004955455:8,082,578...8,099,523 JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19481104 PMID:30185098 RGD:14975167 NCBI chrNW_004955454:3,127,997...3,132,459
Ensembl chrNW_004955454:3,127,997...3,132,459
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO mRNA:increased expression:liver RGD PMID:15122758 RGD:14975241 NCBI chrNW_004955474:8,248,622...8,285,449
Ensembl chrNW_004955474:8,250,759...8,285,227
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chrNW_004955495:6,767,969...6,772,256
Ensembl chrNW_004955495:6,767,975...6,772,178
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 chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450
JBrowse link
G Has3 hyaluronan synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27042213 NCBI chrNW_004955484:7,542,286...7,570,108
Ensembl chrNW_004955484:7,542,286...7,570,684
JBrowse link
G Hfe homeostatic iron regulator no_association ISO Non-alcoholic steatohepatitis (NASH) RGD PMID:12105842 RGD:1601460 NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143
JBrowse link
G Hhex hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chrNW_004955425:737,506...742,775
Ensembl chrNW_004955425:735,378...742,775
JBrowse link
G Hm13 histocompatibility minor 13 ISO associated with hepatitis RGD PMID:27142248 RGD:40924634 NCBI chrNW_004955422:29,365,722...29,408,788
Ensembl chrNW_004955422:29,362,724...29,408,840
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: RGD PMID:23647685 RGD:11354957 NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM:228100 MouseDO NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
JBrowse link
G Il10 interleukin 10 ISO associated with Diabetes Mellitus RGD PMID:18267346 RGD:2308948 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO RGD PMID:18802068 RGD:4145478 NCBI chrNW_004955490:708,144...758,195
Ensembl chrNW_004955490:709,446...758,272
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:19084941 RGD:4889416 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17436085 RGD:1626661 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)
RGD PMID:19076162 PMID:19205029 RGD:2307258 RGD:2307264 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ins insulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9048448 PMID:18713300 RGD:2311137 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Insig1 insulin induced gene 1 severity ISO associated with Obesity;mRNA:increased expression:liver RGD PMID:15096598 RGD:2308857 NCBI chrNW_004955491:8,333,624...8,344,658
Ensembl chrNW_004955491:8,335,359...8,344,658
JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chrNW_004955459:11,571,582...11,596,069
Ensembl chrNW_004955459:11,571,145...11,592,146
JBrowse link
G Insr insulin receptor treatment ISO associated with obesity;human gene in mouse model
protein:decreased phosphorylation: liver (rat)
RGD PMID:22546076 PMID:25160038 PMID:30642871 RGD:14700926 RGD:14700935 RGD:14701028 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22275361 RGD:6483019 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO RGD PMID:22367278 RGD:6893372 NCBI chrNW_004955495:1,704,695...1,711,339
Ensembl chrNW_004955495:1,704,695...1,711,290
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
OMIM:228100
CTD
MouseDO
RGD
PMID:25554529 PMID:29459263 RGD:13703129 NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056
JBrowse link
G Lep leptin severity ISO associated with morbid obesity;protein:decreased exprssion:serum (human)
OMIM:228100
CTD Direct Evidence: marker/mechanism
RGD
MouseDO
CTD
PMID:12661780 PMID:19716478 PMID:23839791 PMID:24525044 PMID:25554529 More... RGD:21201250 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25367288 PMID:29743445 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Lgals3 galectin 3 ISO OMIM:228100 MouseDO NCBI chrNW_004955409:8,448,120...8,452,437
Ensembl chrNW_004955409:8,447,774...8,452,438
JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131
JBrowse link
G LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO mRNA:increased expression:liver (mouse) RGD PMID:31175967 RGD:25671414 NCBI chrNW_004955458:5,472,404...5,477,001
Ensembl chrNW_004955458:5,472,404...5,477,001
JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23391614 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426
JBrowse link
G LOC102023780 aromatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11929713 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
G LOC102023786 cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chrNW_004955410:27,086,405...27,089,255
Ensembl chrNW_004955410:27,086,405...27,089,255
JBrowse link
G LOC102026028 cytochrome P450 2E1 ISO DNA:polymorphism:5' utr:reduced frequency of homozygotic C1 RFLP (PstI+, RsaI-) and increased frequency of C2 RFLP (PstI-,RsaI+) in Chinese patients
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:14606109 PMID:18952117 PMID:19404342 RGD:1626302 RGD:4892244 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
JBrowse link
G LOC102027549 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO OMIM:228100 MouseDO NCBI chrNW_004955413:9,080,901...9,237,644
Ensembl chrNW_004955413:9,080,914...9,237,650
JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ameliorates ISO RGD PMID:26560698 RGD:11342977 NCBI chrNW_004955429:21,717,153...21,739,349
Ensembl chrNW_004955429:21,716,958...21,741,585
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21540183 RGD:9585751 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12060674 NCBI chrNW_004955510:283,860...300,991
Ensembl chrNW_004955510:281,331...300,985
JBrowse link
G Mc4r melanocortin 4 receptor ISO OMIM:228100 MouseDO NCBI chrNW_004955402:44,453,973...44,456,689
Ensembl chrNW_004955402:44,455,294...44,456,292
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
JBrowse link
G Mfn2 mitofusin 2 ISO protein:decreased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772
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 chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO associated with Hepatitis C;mRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16697730 PMID:17303181 RGD:1625483 NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:24210820 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:21285402 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22367278 PMID:28555106 RGD:6893372 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO RGD PMID:21643627 RGD:5135028 NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO protein:increased activity:liver RGD PMID:17721935 RGD:5133249 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604
JBrowse link
G Nr0b2 nuclear receptor subfamily 0 group B member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chrNW_004955452:6,251,047...6,253,541
Ensembl chrNW_004955452:6,250,889...6,254,541
JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chrNW_004955451:14,743,763...14,750,903
Ensembl chrNW_004955451:14,742,735...14,750,999
JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23651738 NCBI chrNW_004955422:940,310...954,170
Ensembl chrNW_004955422:940,310...949,049
JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 severity
treatment
ISO knockout eliminates treatment effectiveness
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12971955 PMID:23104131 PMID:29142166 RGD:14696795 RGD:15045573 NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25182422 NCBI chrNW_004955427:19,459,936...19,487,276
Ensembl chrNW_004955427:19,459,936...19,487,276
JBrowse link
G Nrep neuronal regeneration related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chrNW_004955418:3,435,784...3,464,667
Ensembl chrNW_004955418:3,436,731...3,464,667
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chrNW_004955436:825,387...850,558
Ensembl chrNW_004955436:825,387...850,558
JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
JBrowse link
G Otc ornithine transcarbamylase ISO protein:increased expression:serum (rat) RGD PMID:18823438 RGD:4144061 NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:21756965 RGD:25440484 NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766
JBrowse link
G Plau plasminogen activator, urokinase ISO OMIM:228100 MouseDO NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16439473 PMID:17484887 RGD:1625752 NCBI chrNW_004955434:21,573,860...21,580,990
Ensembl chrNW_004955434:21,574,292...21,580,988
JBrowse link
G Pnpla3 patatin like phospholipase domain containing 3 severity ISO CTD Direct Evidence: marker/mechanism
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human)
CTD
RGD
PMID:21319195 PMID:23564580 PMID:25284145 PMID:25678388 RGD:11055420 RGD:14981583 RGD:14981585 RGD:14981590 NCBI chrNW_004955413:28,879,646...28,896,224
Ensembl chrNW_004955413:28,879,748...28,893,938
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:167377 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945512 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)
associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:16393287 PMID:19124612 PMID:21929649 RGD:15042851 RGD:5509939 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Ppard peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23851158 NCBI chrNW_004955437:3,285,281...3,354,099
Ensembl chrNW_004955437:3,288,830...3,357,048
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO RGD PMID:15112352 RGD:1580685 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment ISO protein:decreased methylation:liver (rat) RGD PMID:22521344 PMID:23174781 PMID:23274094 RGD:7241844 RGD:7242012 RGD:7242179 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO RGD PMID:19162361 RGD:6484544 NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
JBrowse link
G Prkcd protein kinase C delta ISO RGD PMID:17596878 RGD:1642523 NCBI chrNW_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274
JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chrNW_004955435:12,823,137...12,845,631
Ensembl chrNW_004955435:12,822,707...12,846,296
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:liver
OMIM:228100
CTD Direct Evidence: marker/mechanism
RGD
MouseDO
CTD
PMID:15199412 PMID:18166358 PMID:27022031 RGD:1302555 RGD:2292522 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA,protein:increased expression:liver RGD PMID:21643627 RGD:5135028 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15885234 NCBI chrNW_004955453:4,036,503...4,037,788 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO RGD PMID:21643627 RGD:5135028 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:26769846 NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
JBrowse link
G Serpina6 serpin family A member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chrNW_004955438:16,356,600...16,380,861
Ensembl chrNW_004955438:16,356,540...16,380,872
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:29684222 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Shc1 SHC adaptor protein 1 ISO associated with Obesity RGD PMID:17596878 RGD:1642523 NCBI chrNW_004955545:1,468,391...1,479,209
Ensembl chrNW_004955545:1,468,391...1,476,814
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:228100
associated with Obesity
CTD
MouseDO
RGD
PMID:21321189 PMID:21540183 PMID:23834033 PMID:24184811 PMID:24210820 More... RGD:9585751 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:28536482 NCBI chrNW_004955495:4,641,883...4,650,518
Ensembl chrNW_004955495:4,644,023...4,650,083
JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24210820 NCBI chrNW_004955506:1,252,271...1,258,728
Ensembl chrNW_004955506:1,252,274...1,258,728
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26303333 NCBI chrNW_004955467:12,181,555...12,217,280
Ensembl chrNW_004955467:12,182,766...12,216,842
JBrowse link
G Slc22a8 solute carrier family 22 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chrNW_004955599:284,038...299,603
Ensembl chrNW_004955599:283,929...300,796
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO mRNA, protein:increased expression RGD PMID:16248953 RGD:1625640 NCBI chrNW_004955570:853,856...866,383
Ensembl chrNW_004955570:853,849...866,383
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12048068 NCBI chrNW_004955420:1,101,769...1,129,672
Ensembl chrNW_004955420:1,101,769...1,129,715
JBrowse link
G Slco1a2 solute carrier organic anion transporter family member 1A2 ISO RGD PMID:16139386 RGD:1598602 NCBI chrNW_004955413:16,821,808...16,910,511
Ensembl chrNW_004955413:16,821,791...16,912,903
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chrNW_004955506:4,222,455...4,225,563
Ensembl chrNW_004955506:4,222,455...4,225,563
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27349771 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16799967 RGD:25671424 NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chrNW_004955499:5,180,451...5,347,862
Ensembl chrNW_004955499:5,180,214...5,345,221
JBrowse link
G Suox sulfite oxidase ISO protein:decreased expression:liver RGD PMID:15144217 RGD:1600114 NCBI chrNW_004955458:3,584,390...3,589,764
Ensembl chrNW_004955458:3,585,482...3,590,559
JBrowse link
G Tlr4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:27022031 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Ucp2 uncoupling protein 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
CTD
RGD
PMID:10860543 PMID:21114362 RGD:7204423 NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:30905785 RGD:14402029 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chrNW_004955455:3,037,885...3,041,827 JBrowse link
Gaucher's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chit1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar NCBI chrNW_004955419:18,035,197...18,097,681
Ensembl chrNW_004955419:18,038,507...18,095,894
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis ClinVar PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO 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 chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Gaucher disease type I OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Gaucher disease type I ClinVar PMID:22493294 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
Gaucher's disease type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO 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 chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
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 chrNW_004955405:37,081,024...37,093,798 JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16200072 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC/variant pseudo-hurler polydystrophy RGD PMID:10712439 RGD:1599045 NCBI chrNW_004955442:15,870,409...15,881,552
Ensembl chrNW_004955442:15,870,619...15,881,511
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chrNW_004955563:1,703,408...1,712,908
Ensembl chrNW_004955563:1,703,416...1,745,996
JBrowse link
G Neu1 neuraminidase 1 ISO 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 ClinVar PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085
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 ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis RGD
ClinVar
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... RGD:11086251 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
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 chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581
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 chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
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 chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581
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 chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
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 chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581
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 chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
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 chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581
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 ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chrNW_004955408:2,442,406...2,449,426
Ensembl chrNW_004955408:2,442,406...2,449,426
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 More... NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403
JBrowse link
G Sncb synuclein beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095
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 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB OMIM
ClinVar
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More... NCBI chrNW_004955408:2,442,406...2,449,426
Ensembl chrNW_004955408:2,442,406...2,449,426
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 More... NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset ClinVar PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 More... NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 ClinVar PMID:1532289 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734
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 chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency OMIM
ClinVar
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
lysosomal and lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency OMIM
ClinVar
PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 More... NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
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 chrNW_004955413:33,460,975...33,469,935
Ensembl chrNW_004955413:33,465,982...33,466,953
JBrowse link
G Arsa arylsulfatase A ISO 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
ClinVar
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 More... NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
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 chrNW_004955425:22,120,507...22,281,221
Ensembl chrNW_004955425:22,119,930...22,279,006
JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,588,375...33,592,054
Ensembl chrNW_004955413:33,588,600...33,591,758
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,578,734...33,588,055
Ensembl chrNW_004955413:33,578,355...33,588,674
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,534,794...33,536,614 JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,487,970...33,492,033
Ensembl chrNW_004955413:33,487,917...33,492,033
JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Mal mal, T cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chrNW_004955470:3,372,577...3,396,868
Ensembl chrNW_004955470:3,372,577...3,398,836
JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,608,092...33,617,984
Ensembl chrNW_004955413:33,608,655...33,617,255
JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,476,097...33,478,539
Ensembl chrNW_004955413:33,476,033...33,478,539
JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,492,348...33,503,804 JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,509,185...33,511,002
Ensembl chrNW_004955413:33,509,244...33,510,607
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,427,283...33,450,581
Ensembl chrNW_004955413:33,427,214...33,452,415
JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chrNW_004955464:6,097,241...6,224,287
Ensembl chrNW_004955464:6,094,758...6,224,287
JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,537,646...33,573,787
Ensembl chrNW_004955413:33,537,753...33,563,373
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
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 related 23 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 chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
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 chrNW_004955437:19,667,252...19,683,669 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 ISO OMIM:251850 MouseDO NCBI chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042
JBrowse link
G Myo5b myosin VB ISO ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 More... NCBI chrNW_004955402:34,892,652...35,247,431
Ensembl chrNW_004955402:34,892,652...35,143,704
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 subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004955442:15,870,409...15,881,552
Ensembl chrNW_004955442:15,870,619...15,881,511
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 More... NCBI chrNW_004955563:1,703,408...1,712,908
Ensembl chrNW_004955563:1,703,416...1,745,996
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 subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis type II OMIM
ClinVar
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993
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 subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical ClinVar PMID:15633164 PMID:28492532 NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993
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 subunits alpha and beta 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 chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993
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-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Mucolipidosis type III gamma OMIM
ClinVar
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 More... NCBI chrNW_004955442:15,870,409...15,881,552
Ensembl chrNW_004955442:15,870,619...15,881,511
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis type III gamma ClinVar NCBI chrNW_004955442:15,827,352...15,870,561
Ensembl chrNW_004955442:15,827,350...15,870,561
JBrowse link
mucolipidosis type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV OMIM
ClinVar
PMID:9536098 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 More... NCBI chrNW_004955563:1,703,408...1,712,908
Ensembl chrNW_004955563:1,703,416...1,745,996
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 chrNW_004955563:1,681,112...1,703,287
Ensembl chrNW_004955563:1,680,818...1,703,287
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 ISO OMIM:272200 MouseDO NCBI chrNW_004955421:8,982,059...9,050,936
Ensembl chrNW_004955421:8,981,211...9,049,948
JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:12757706 NCBI chrNW_004955456:8,238,301...8,251,682
Ensembl chrNW_004955456:8,238,318...8,251,366
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 chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085
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 chrNW_004955528:391,749...395,181
Ensembl chrNW_004955528:391,749...395,181
JBrowse link
G Adrm1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,753,450...1,759,886
Ensembl chrNW_004955528:1,753,450...1,759,886
JBrowse link
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,184,944...11,229,385
Ensembl chrNW_004955476:11,185,223...11,229,409
JBrowse link
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:22,121,867...22,137,849
Ensembl chrNW_004955414:22,117,470...22,137,849
JBrowse link
G Apobr apolipoprotein B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004955493:6,707,917...6,712,108 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 chrNW_004955528:878,837...893,427
Ensembl chrNW_004955528:877,073...893,484
JBrowse link
G Arfip2 ADP ribosylation factor interacting protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:22,209,515...22,214,353
Ensembl chrNW_004955414:22,209,515...22,214,353
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 chrNW_004955528:519,887...529,012
Ensembl chrNW_004955528:519,887...529,012
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:15024724 PMID:28116333 PMID:28492532 NCBI chrNW_004955403:57,820,003...57,907,324
Ensembl chrNW_004955403:57,818,837...57,907,324
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 chrNW_004955478:4,326,669...4,475,559
Ensembl chrNW_004955478:4,341,826...4,434,542
JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:14,051,140...14,053,521
Ensembl chrNW_004955422:14,051,140...14,053,521
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism
Neuronal ceroid lipofuscinosis, 12
CTD
OMIA
PMID:1471473 PMID:1609844 PMID:12061538 PMID:15691038 PMID:15771740 More... NCBI chrNW_004955527:1,805,854...1,823,623
Ensembl chrNW_004955527:1,806,009...1,823,344
JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004955493:6,559,995...6,578,461
Ensembl chrNW_004955493:6,559,995...6,578,461
JBrowse link
G Atxn2l ataxin 2 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004955493:6,626,106...6,637,678
Ensembl chrNW_004955493:6,626,106...6,637,681
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 chrNW_004955528:1,094,234...1,094,674 JBrowse link
G Birc7 baculoviral IAP repeat containing 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:919,246...922,581
Ensembl chrNW_004955528:919,246...922,619
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:10,911,515...10,951,544
Ensembl chrNW_004955476:10,911,515...10,929,183
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 chrNW_004955528:1,656,475...1,674,632
Ensembl chrNW_004955528:1,574,870...1,672,496
JBrowse link
G Cavin3 caveolae associated protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:22,052,885...22,054,672
Ensembl chrNW_004955414:22,050,109...22,054,374
JBrowse link
G Cckbr cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:22,001,351...22,011,275
Ensembl chrNW_004955414:22,000,436...22,011,433
JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,294,359...11,298,990
Ensembl chrNW_004955476:11,294,359...11,337,825
JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004955493:6,540,160...6,544,077 JBrowse link
G Cd81 CD81 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:14,155,682...14,175,181
Ensembl chrNW_004955422:14,155,682...14,175,181
JBrowse link
G Cdhr5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,435,677...11,442,338
Ensembl chrNW_004955476:11,435,642...11,442,873
JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:14,576,971...14,578,868 JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,339,586...11,341,996
Ensembl chrNW_004955476:11,339,586...11,341,996
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,246,745...11,276,341
Ensembl chrNW_004955476:11,246,490...11,276,341
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chrNW_004955528:825,314...840,994
Ensembl chrNW_004955528:825,308...841,270
JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chrNW_004955403:36,625,871...36,710,201
Ensembl chrNW_004955403:36,625,770...36,710,201
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More... NCBI chrNW_004955493:6,696,520...6,707,849
Ensembl chrNW_004955493:6,696,241...6,707,849
JBrowse link
G Cln5 CLN5 intracellular trafficking protein 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 chrNW_004955404:30,229,632...30,235,677
Ensembl chrNW_004955404:30,229,632...30,235,679
JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581
JBrowse link
G Cln8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chrNW_004955403:57,926,711...57,938,698
Ensembl chrNW_004955403:57,924,873...57,938,690
JBrowse link
G Cnga4 cyclic nucleotide gated channel subunit alpha 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:21,977,996...21,986,349
Ensembl chrNW_004955414:21,977,996...21,986,441
JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:847,416...878,741 JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,286,314...1,305,863 JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,299,353...11,304,105
Ensembl chrNW_004955476:11,299,614...11,303,657
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 chrNW_004955422:13,576,315...13,584,267
Ensembl chrNW_004955422:13,576,202...13,584,298
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chrNW_004955422:18,794,207...18,799,245
Ensembl chrNW_004955422:18,793,367...18,802,535
JBrowse link
G CUNH11orf42 chromosome unknown C11orf42 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:21,946,935...21,954,111
Ensembl chrNW_004955414:21,946,935...21,953,865
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,398,187...11,422,633
Ensembl chrNW_004955476:11,398,448...11,423,654
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 chrNW_004955528:1,153,181...1,207,346
Ensembl chrNW_004955528:1,162,836...1,207,596
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 chrNW_004955528:317,891...366,299
Ensembl chrNW_004955528:317,891...366,293
JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:22,230,887...22,300,804
Ensembl chrNW_004955414:22,231,843...22,300,770
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,424,347...11,426,962
Ensembl chrNW_004955476:11,424,411...11,426,960
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:10,816,647...10,826,787
Ensembl chrNW_004955476:10,813,336...10,826,801
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 chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358
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 chrNW_004955528:717,338...726,383
Ensembl chrNW_004955528:717,338...729,692
JBrowse link
G Eps8l2 EPS8 like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,371,928...11,390,588
Ensembl chrNW_004955476:11,372,571...11,389,804
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 chrNW_004955404:30,215,140...30,229,798
Ensembl chrNW_004955404:30,215,108...30,229,798
JBrowse link
G Fhip1b FHF complex subunit HOOK interacting protein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:21,954,103...21,977,877
Ensembl chrNW_004955414:21,954,103...21,977,875
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 chrNW_004955528:670,563...672,995
Ensembl chrNW_004955528:670,563...672,995
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,595,231...1,604,979
Ensembl chrNW_004955528:1,595,231...1,604,979
JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,350,827...11,354,844
Ensembl chrNW_004955476:11,350,821...11,354,844
JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,146,313...1,153,093
Ensembl chrNW_004955528:1,146,313...1,153,093
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chrNW_004955528:603,817...638,698
Ensembl chrNW_004955528:611,736...638,698
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chrNW_004955528:652,381...666,923
Ensembl chrNW_004955528:652,543...668,744
JBrowse link
G Hpx hemopexin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:22,158,654...22,169,133
Ensembl chrNW_004955414:22,156,819...22,169,631
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131
JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:13,556,968...13,572,010
Ensembl chrNW_004955422:13,557,416...13,573,715
JBrowse link
G Igf2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Il27 interleukin 27 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
JBrowse link
G Ilk integrin linked kinase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:22,316,243...22,322,979
Ensembl chrNW_004955414:22,316,047...22,322,979
JBrowse link
G Ins insulin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,442,781...11,445,706
Ensembl chrNW_004955476:11,443,272...11,445,657
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:22748208 PMID:25976102 PMID:27742667 PMID:28492532 PMID:30295347 More... NCBI chrNW_004955456:8,627,763...8,637,882
Ensembl chrNW_004955456:8,627,763...8,636,206
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chrNW_004955528:490,319...492,943
Ensembl chrNW_004955528:490,471...491,688
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,487,918...11,493,281
Ensembl chrNW_004955476:11,489,481...11,493,923
JBrowse link
G LOC102010472 olfactory receptor 688 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:21,882,234...21,901,979
Ensembl chrNW_004955414:21,882,234...21,901,979
JBrowse link
G LOC102015189 olfactory receptor 52W1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955414:21,944,401...21,945,366 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
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G Lsp1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:13,664,594...13,697,682
Ensembl chrNW_004955422:13,664,129...13,700,126
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G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19201763 PMID:19277732 PMID:22668694 PMID:25333361 PMID:25741868 More... NCBI chrNW_004955428:13,519,285...13,548,007
Ensembl chrNW_004955428:13,519,277...13,544,695
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G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:10,840,727...10,906,726
Ensembl chrNW_004955476:10,840,718...10,910,265
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G Mrgbp MRG domain binding protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,320,061...1,324,094 JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955422:13,735,603...13,743,575 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,108,826...11,135,697 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,061,405...11,084,294 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,021,665...11,049,239 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,165,423...11,184,674 JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chrNW_004955404:29,932,125...30,186,236
Ensembl chrNW_004955404:29,932,125...30,186,236
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G Nkain4 sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:903,195...917,522
Ensembl chrNW_004955528:903,176...918,903
JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,348,616...1,394,798
Ensembl chrNW_004955528:1,348,555...1,394,868
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chrNW_004955493:6,746,380...6,747,763
Ensembl chrNW_004955493:6,746,380...6,747,763
JBrowse link
G Ogfr opioid growth factor receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,310,394...1,316,748
Ensembl chrNW_004955528:1,310,712...1,317,693
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,446,194...11,476,892
Ensembl chrNW_004955476:11,446,376...11,477,530
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,325,877...11,331,447
Ensembl chrNW_004955476:11,326,626...11,331,360
JBrowse link
G Pnpla2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chrNW_004955476:11,304,660...11,309,755
Ensembl chrNW_004955476:11,303,843...11,309,181