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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:Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
Synonyms:exact_synonym: Lipidoses;   Lipidosis;   Lipoid storage diseas;   Lipoidosis;   inborn lipid storage disorder
 primary_id: MESH:D008064;   RDO:0006014
 xref: ICD10CM:E75.6;   ICD9CM:272.7;   ICD9CM:272.8
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lipid storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
G Depp1 DEPP1, autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 4:149,910,794...149,913,013
Ensembl chr 4:149,910,779...149,914,542 		JBrowse link
G Fabp1 fatty acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788 		JBrowse link
G Fads2 fatty acid desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789 		JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hpn hepsin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811 		JBrowse link
G Inhbe inhibin subunit beta E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:63,177,558...63,178,983
Ensembl chr 7:63,176,219...63,179,172 		JBrowse link
G Lss lanosterol synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609 		JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 1:181,213,292...181,215,327 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562 		JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 6:123,323,632...123,331,166
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP RGD PMID:17524234 RGD:2308821 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP RGD PMID:17524234 RGD:2308821 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668 		JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr10:94,542,946...94,580,174
Ensembl chr10:94,542,946...94,579,846 		JBrowse link
Alcoholic Fatty Liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP
ISO		 RGD PMID:26115886 PMID:18755807 PMID:27220557 PMID:22013387 RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member severity
treatment
susceptibility		 IDA
ISO		 human transgene in mouse model
protein:altered processing:liver (mouse)
DNA:missense mutation:cds:p.E504K (human)		 RGD PMID:17058263 PMID:25457208 PMID:29156373 PMID:29063269 RGD:1599041, RGD:15036811, RGD:15036805, RGD:14696776 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26428356 PMID:25583360 PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:29884546 PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment		 ISO
IEP		 DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463 PMID:20143470 RGD:14995434, RGD:38508901 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781 		JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency OMIM
ClinVar		 PMID:2615292 PMID:6256275 PMID:8460394 PMID:15856305 PMID:25741868 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29995202 PMID:31439510 NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO OMIM:213700, R446C, R362C
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:213700		 ClinVar
CTD
OMIM
RGD		 PMID:2019602 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8514861 More... RGD:1600872 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
cholesterol ester storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Cholesteryl ester storage disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8146180 PMID:16255772 PMID:23485521 PMID:24295952 PMID:28492532 More... RGD:1600621 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Tspo translocator protein IMP RGD PMID:29074640 RGD:150429771 NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450 		JBrowse link
G Tspoem1Vpl translocator protein; ZFN induced mutant1, Vpl IMP RGD PMID:29074640 RGD:150429771
G Tspoem2Vpl translocator protein; ZFN induced mutant2, Vpl IMP RGD PMID:29074640 RGD:150429771
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency		 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by OMIM:611721		 OMIM
ClinVar		 PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
Congenital Visceral Steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO RGD PMID:11997462 RGD:1300259 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510 		JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Gla galactosidase, alpha ISO
IMP		 DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Ceramide trihexosidase deficiency
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum
ClinVar Annotator: match by term: Fabry's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301500		 ClinVar
CTD
OMIM
RGD		 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 PMID:1753437 More... RGD:1601350, RGD:150429980 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:29563343 RGD:150429980
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry Disease ClinVar NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Fabry disease, cardiac variant		 ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
Farber lipogranulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Farber lipogranulomatosis
ClinVar Annotator: match by term: Farber's lipogranulomatosis
ClinVar Annotator: match by term: Farber disease
ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency
ClinVar Annotator: match by OMIM:228000		 OMIM
ClinVar		 PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
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 IEP
ISO		 associated with adult growth hormone deficiency RGD PMID:15995177 PMID:26362727 PMID:30130150 RGD:1598534, RGD:21408552, RGD:18936993 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 IEP RGD PMID:16139386 RGD:1598602 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP mRNA, protein:increased expression:liver RGD PMID:17640958 RGD:2301064 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha IDA RGD PMID:16485039 RGD:1625727 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acacb acetyl-CoA carboxylase beta IDA RGD PMID:16485039 RGD:1625727 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP
ISO		 associated with hepatitis C;protein:increased expression:serum
protein:increased expression:plasma		 RGD PMID:17006986 PMID:20714777 PMID:16115302 RGD:1599139, RGD:5686883, RGD:5686674 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:30225267 PMID:19076162 RGD:21406435, RGD:2307264 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355 		JBrowse link
G Adk adenosine kinase ISS OMIM:228100 MouseDO NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO RGD PMID:11718682 RGD:1559320 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO RGD PMID:17332477 RGD:14349048 NCBI chr 9:87,804,749...87,807,866
Ensembl chr 9:87,804,749...87,807,913 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO associated with obesity RGD PMID:16197789 RGD:1601177 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Alpp alkaline phosphatase, placental ISO RGD PMID:17332477 RGD:14349048 NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606 		JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:28842503 PMID:15837923 RGD:1625354 NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519 		JBrowse link
G Apoa1 apolipoprotein A1 treatment IEP RGD PMID:30231880 RGD:25671436 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apob apolipoprotein B IEP
ISO		 mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12048068 PMID:17303181 PMID:17203948 RGD:2325770 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoe apolipoprotein E IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:32853627 PMID:29459263 RGD:13703129 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446 		JBrowse link
G Atp5if1 ATP synthase inhibitory factor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 5:144,738,950...144,742,668
Ensembl chr 5:144,738,950...144,742,668 		JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Ca3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280 		JBrowse link
G Cat catalase IEP
ISO		 protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10860543 PMID:21452373 RGD:5130871 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:29684222 PMID:22983634 RGD:8548844 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:liver RGD PMID:28011329 PMID:28011329 RGD:14995306, RGD:14995306 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Cd163 CD163 molecule ISO associated with hepatitis B;protein:increased expression:blood serum (human) RGD PMID:26339412 RGD:11251207 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19788606 RGD:6893500 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787813 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP protein:increased expression:liver (rat) RGD PMID:20347174 RGD:4144089 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:14614508 RGD:734818 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Ctsb cathepsin B IEP mRNA, protein:increased expression, increased activity:liver, cytosol (rat) RGD PMID:18452148 RGD:2315513 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11929713 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO mRNA:increased expression:liver (mouse) RGD PMID:31175967 RGD:25671414 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP
ISO		 protein:increased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18952117 PMID:19404342 PMID:14606109 RGD:4892244, RGD:1626302 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23391614 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IMP RGD PMID:17526931 RGD:10400884 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428 		JBrowse link
G Dhrs7 dehydrogenase/reductase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 6:91,332,259...91,347,856
Ensembl chr 6:91,251,323...91,347,892 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F2r coagulation factor II (thrombin) receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 PMID:22841818 NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870 		JBrowse link
G Fabp1 fatty acid binding protein 1 ISO Western diet-induced hepatic steatosis RGD PMID:17058218 RGD:1626440 NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788 		JBrowse link
G Fgf21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:24184811 PMID:32195457 RGD:25330354 NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377 		JBrowse link
G Foxa1 forkhead box A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 IEP mRNA:increased expression:liver (rat) RGD PMID:29534506 RGD:14695544 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gck glucokinase IDA
ISO		 associated with Hyperglycemia RGD PMID:22925001 PMID:22925001 RGD:7488945, RGD:7488945 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:19670414 RGD:14747016 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:19481104 PMID:30185098 RGD:14975167 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO mRNA:increased expression:liver RGD PMID:15122758 RGD:14975241 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 RGD PMID:7846063 RGD:1599882 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Has3 hyaluronan synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27042213 NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO Non-alcoholic steatohepatitis (NASH)
non-alcoholic fatty liver disease		 RGD PMID:12105842 PMID:11473047 RGD:1601460, RGD:1601452 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hhex hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042 		JBrowse link
G Hm13 histocompatibility minor 13 ISO associated with hepatitis RGD PMID:27142248 RGD:40924634 NCBI chr 3:141,145,769...141,184,703
Ensembl chr 3:141,145,782...141,184,703 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: RGD PMID:23647685 RGD:11354957 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISS OMIM:228100 MouseDO NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 IEP associated with Diabetes Mellitus RGD PMID:18267346 RGD:2308948 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 IMP RGD PMID:18802068 RGD:4145478 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381 		JBrowse link
G Il18 interleukin 18 IDA RGD PMID:19084941 RGD:4889416 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:serum RGD PMID:17436085 RGD:1626661 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO
IAGP		 associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)		 RGD PMID:19205029 PMID:19076162 RGD:2307258, RGD:2307264 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ins2 insulin 2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:9048448 PMID:18713300 RGD:2311137 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insig1 insulin induced gene 1 severity ISO
IEP		 associated with Obesity
associated with Obesity;mRNA:increased expression:liver		 RGD PMID:15096598 PMID:15096598 RGD:2308857, RGD:2308857 NCBI chr 4:7,315,494...7,323,972
Ensembl chr 4:7,315,495...7,323,952 		JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923 		JBrowse link
G Insr insulin receptor treatment IEP
IMP		 associated with obesity;human gene in mouse model
protein:decreased phosphorylation: liver (rat)		 RGD PMID:25160038 PMID:30642871 PMID:22546076 RGD:14700926, RGD:14701028, RGD:14700935 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22275361 RGD:6483019 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO RGD PMID:22367278 RGD:6893372 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Ldlr low density lipoprotein receptor ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25554529 PMID:29459263 RGD:13703129 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Ldlrem1Dlli low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli IMP RGD PMID:29459263 RGD:13703129
G Lep leptin severity IEP
ISO		 associated with morbid obesity;protein:decreased exprssion:serum (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12661780 PMID:19716478 PMID:23839791 PMID:24525044 PMID:25554529 More... RGD:21201250 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25367288 PMID:29743445 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lgals3 galectin 3 ISS OMIM:228100 MouseDO NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISS OMIM:228100 MouseDO NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21540183 RGD:9585751 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12060674 NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274 		JBrowse link
G Mc4r melanocortin 4 receptor ISS OMIM:228100 MouseDO NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mfn2 mitofusin 2 IEP protein:decreased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir10b microRNA 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546 		JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710 		JBrowse link
G Mir134 microRNA 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:128,748,908...128,748,980 JBrowse link
G Mir139 microRNA 139 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902 		JBrowse link
G Mir148b microRNA 148b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:134,421,398...134,421,494
Ensembl chr 7:134,421,398...134,421,494 		JBrowse link
G Mir150 microRNA 150 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108 		JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030 		JBrowse link
G Mir17 microRNA 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712 		JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796 		JBrowse link
G Mir22 microRNA 22 severity ISO RGD PMID:32195457 PMID:32195457 RGD:25330354, RGD:25330354 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133 		JBrowse link
G Mir224 microRNA 224 IEP associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) RGD PMID:25386083 RGD:18182925 NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169 		JBrowse link
G Mir320a microRNA 320a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G Mir34a microRNA 34a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23834033 NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103 		JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434 		JBrowse link
G Mir449c microRNA 449c ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 2:44,669,179...44,669,277
Ensembl chr 2:44,669,179...44,669,277 		JBrowse link
G Mir503 microRNA 503 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:132,806,303...132,806,373
Ensembl chr  X:132,806,303...132,806,373 		JBrowse link
G Mir542 microRNA 542 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:132,802,623...132,802,701
Ensembl chr  X:132,802,623...132,802,701 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) RGD PMID:15834927 RGD:1580580 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mttp microsomal triglyceride transfer protein ISO associated with Hepatitis C;mRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17303181 PMID:16697730 RGD:1625483 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:24210820 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:21285402 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:28555106 PMID:22367278 RGD:6893372 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 IDA RGD PMID:21643627 RGD:5135028 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP protein:increased activity:liver RGD PMID:17721935 RGD:5133249 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23651738 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
severity		 ISO CTD Direct Evidence: marker/mechanism
knockout eliminates treatment effectiveness		 CTD
RGD		 PMID:29142166 PMID:12971955 PMID:23104131 RGD:15045573, RGD:14696795 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25182422 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
G Nrep neuronal regeneration related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:25,017,069...25,046,564
Ensembl chr18:25,017,083...25,046,591 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Otc ornithine transcarbamylase IEP protein:increased expression:serum (rat) RGD PMID:18823438 RGD:4144061 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:21756965 RGD:25440484 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Plau plasminogen activator, urokinase ISS OMIM:228100 MouseDO NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16439473 PMID:17484887 RGD:1625752 NCBI chr 5:101,156,643...101,211,738
Ensembl chr 5:101,154,411...101,242,319 		JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 severity ISO CTD Direct Evidence: marker/mechanism
associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)		 CTD
RGD		 PMID:25678388 PMID:25284145 PMID:25678388 PMID:21319195 PMID:23564580 RGD:14981590, RGD:11055420, RGD:14981585, RGD:14981583 NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:167377 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945512 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO
IEP		 associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice
associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:19124612 PMID:21929649 PMID:16393287 RGD:5509939, RGD:15042851 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23851158 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP RGD PMID:15112352 RGD:1580685 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA
IEP
ISO		 protein:decreased methylation:liver (rat) RGD PMID:23274094 PMID:22521344 PMID:23174781 RGD:7241844, RGD:7242179, RGD:7242012 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO RGD PMID:19162361 RGD:6484544 NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978 		JBrowse link
G Prkcd protein kinase C, delta ISO RGD PMID:17596878 RGD:1642523 NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731 		JBrowse link
G Pten phosphatase and tensin homolog IEP
ISO		 protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:27022031 PMID:18166358 PMID:15199412 RGD:2292522, RGD:1302555 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP mRNA,protein:increased expression:liver RGD PMID:21643627 RGD:5135028 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15885234 NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IDA RGD PMID:21643627 RGD:5135028 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:26769846 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121 		JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: therapeutic CTD PMID:21661758 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562 		JBrowse link
G Serpina6 serpin family A member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349 		JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:29684222 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO associated with Obesity RGD PMID:17596878 RGD:1642523 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G Sirt1 sirtuin 1 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:21321189 PMID:23834033 PMID:24184811 PMID:24210820 PMID:24442997 More... RGD:9585751 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:28536482 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24210820 NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26303333 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945 		JBrowse link
G Slc22a8 solute carrier family 22 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450 		JBrowse link
G Slc27a4 solute carrier family 27 member 4 IEP mRNA, protein:increased expression RGD PMID:16248953 RGD:1625640 NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12048068 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:16139386 RGD:1598602 NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27349771 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16799967 RGD:25671424 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
G Suox sulfite oxidase IEP protein:decreased expression:liver RGD PMID:15144217 RGD:1600114 NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:27022031 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Txn1 thioredoxin 1 IEP RGD PMID:18578693 RGD:2306156 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Ucp2 uncoupling protein 2 IEP
ISO		 mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10860543 PMID:21114362 RGD:7204423 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:30905785 PMID:30905785 RGD:14402029, RGD:14402029 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		JBrowse link
Gaucher's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Chit1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease
ClinVar Annotator: match by term: Kerasin thesaurismosis
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gaucher Disease, Type 3
DNA:mutations:cds, intron:multiple (human)
DNA:missense mutations, deletion:cds:multiple (human)
ClinVar Annotator: match by null		 ClinVar
CTD
RGD		 PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... RGD:5508423, RGD:12791018, RGD:12791017, RGD:5508431 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease collodion type
ClinVar Annotator: match by term: Gaucher disease, perinatal lethal		 OMIM
ClinVar		 PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD I
ClinVar Annotator: match by term: Gaucher disease type I
ClinVar Annotator: match by term: Gaucher's disease, type 1
ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: Gaucher Disease, Type 1
ClinVar Annotator: match by term: Gaucher disease, type I		 ClinVar
OMIM		 PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: GD I ClinVar PMID:22493294 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD II
ClinVar Annotator: match by term: Gaucher disease type II
ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
ClinVar Annotator: match by term: Acute cerebral Gaucher disease		 ClinVar
OMIM		 PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD III
ClinVar Annotator: match by term: Gaucher disease type III
ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type
ClinVar Annotator: match by term: Gaucher Disease, Type 3		 ClinVar
OMIM		 PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
Gaucher's disease type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC
ClinVar Annotator: match by term: Gaucher disease type 3C		 OMIM
ClinVar		 PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:27662472 More... NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: I cell disease		 ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Neu1 neuraminidase 1 ISS
ISO		 OMIM:256550
ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME		 MouseDO
ClinVar		 PMID:9054950 PMID:10767332 PMID:11063730 PMID:11279074 PMID:11470272 More... NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745 		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: GM1 gangliosidosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:230500		 ClinVar
CTD
RGD		 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 More... RGD:1598983, RGD:11086251, RGD:12910453 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GLB1 DEFICIENCY
ClinVar Annotator: match by term: GM1 gangliosidosis		 ClinVar PMID:16941474 PMID:25741868 PMID:28492532 NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, UMLS MESH term: Gm1 Gangliosidosis, Type I, with Cardiac Involvement
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1
ClinVar Annotator: match by term: Gm1-gangliosidosis, type I, with cardiac involvement		 ClinVar
OMIM		 PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More... NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		JBrowse link
GM1 gangliosidosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2		 ClinVar
OMIM		 PMID:1353343 PMID:1606711 PMID:1907800 PMID:1909089 PMID:1928092 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2
ClinVar Annotator: match by term: GM1 gangliosidosis type 2		 ClinVar PMID:16941474 PMID:25741868 PMID:28492532 NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		JBrowse link
GM1 gangliosidosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 3		 OMIM
ClinVar		 PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More... NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:1833974 PMID:7717398 PMID:7827134 PMID:8490625 More... NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar Annotator: match by OMIM:272750		 OMIM
ClinVar		 PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More... NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938 PMID:1307230 PMID:1830584 PMID:2294750 PMID:2824459 More... NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset ClinVar PMID:1532289 PMID:2145759 PMID:2220809 PMID:2278539 PMID:2522660 More... NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, b1 variant ClinVar PMID:1532289 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		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: Leukodystrophy, Globoid Cell
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency		 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by OMIM:245200		 OMIM
ClinVar
RGD		 PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... RGD:38599167 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Psap prosaposin ISO
ISS		 ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200		 ClinVar
MouseDO		 PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		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: Lysosomal acid lipase deficiency
ClinVar Annotator: match by OMIM:278000
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:2129132 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 More... NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe
ClinVar Annotator: match by synonym: Metachromatic leukodystrophy, late infantile		 ClinVar
OMIM
RGD		 PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 More... RGD:1358435, RGD:1358434 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		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 chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy		 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11709541 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Mal mal, T-cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 3:114,864,378...114,888,136
Ensembl chr 3:114,864,378...114,888,136 		JBrowse link
G Psap prosaposin ISO
ISS		 ClinVar Annotator: match by term: Metachromatic leukodystrophy
OMIM:249900 | OMIM:250100		 ClinVar
MouseDO		 PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		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: Saposin B Deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		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 ISS OMIM:251850 MouseDO NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Congenital microvillous atrophy
ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy
ClinVar Annotator: match by OMIM:251850		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 More... NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745 		JBrowse link
mucolipidosis 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: Mucolipidosis ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:22570975 More... NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:24033266 PMID:25741868 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucolipidosis		 CTD
ClinVar		 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 More... NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
mucolipidosis II alpha/beta 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: Mucolipidosis, Type II
ClinVar Annotator: match by term: Mucolipidosis type II
ClinVar Annotator: match by term: I cell disease		 ClinVar PMID:9536098 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 More... NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis type II
ClinVar Annotator: match by term: I cell disease
ClinVar Annotator: match by term: ML II ALPHA/BETA
ClinVar Annotator: match by term: Mucolipidosis, Type II		 OMIM
ClinVar		 PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		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:9536098 PMID:15633164 PMID:17576681 PMID:28492532 NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		JBrowse link
mucolipidosis III alpha/beta 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: Mucolipidosis, Type III Alpha/Beta
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy		 ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:27662472 More... NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar Annotator: match by OMIM:252600		 OMIM
ClinVar		 PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		JBrowse link
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 OMIM:252605
ClinVar Annotator: match by term: Mucolipidosis type III gamma
ClinVar Annotator: match by term: Mucolipidosis III Gamma		 ClinVar
OMIM		 PMID:10712439 PMID:15060128 PMID:16199547 PMID:19370764 PMID:19659762 More... NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Gamma ClinVar NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225 		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
ClinVar Annotator: match by term: ML IV		 ClinVar
OMIM		 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 More... NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: ML IV
ClinVar Annotator: match by term: Mucolipidosis type IV		 ClinVar PMID:26467025 PMID:28492532 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		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 ISS OMIM:272200 MouseDO NCBI chr 4:141,078,735...141,160,711
Ensembl chr 4:141,078,741...141,160,708 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:12757706 NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816 		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: Neuraminidase 1 deficiency
ClinVar Annotator: match by term: Sialidosis type I
ClinVar Annotator: match by term: Sialidosis, type II
ClinVar Annotator: match by OMIM:256550		 OMIM
ClinVar		 PMID:9054950 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 More... NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745 		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:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762 		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 chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195 		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 chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627 		JBrowse link
G Apobr apolipoprotein B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,168,982...181,173,528
Ensembl chr 1:181,168,916...181,173,528 		JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933 		JBrowse link
G Arfip2 ADP-ribosylation factor interacting protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,974,255...159,980,398
Ensembl chr 1:159,974,201...159,980,336 		JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914 		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 chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022275 PMID:22847264 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		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 chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838 		JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686 		JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223 		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 chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,035,522...197,088,624
Ensembl chr 1:197,035,633...197,088,092 		JBrowse link
G Cables2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279 		JBrowse link
G Cavin3 caveolae associated protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,826,549...159,828,138
Ensembl chr 1:159,826,549...159,828,161 		JBrowse link
G Cckbr cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,771,733...159,781,738
Ensembl chr 1:159,771,733...159,814,881 		JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Lipofuscin storage disease		 CTD
ClinVar		 PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More... NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434 		JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More... NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 More... RGD:1358512, RGD:11064442, RGD:1358512 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360 		JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774 		JBrowse link
G Cnga4 cyclic nucleotide gated channel subunit alpha 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,752,357...159,756,369
Ensembl chr 1:159,752,357...159,756,375 		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 chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309 		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 chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771 		JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:17576681 More... NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218 		JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25741868 PMID:25921748 PMID:26467025 PMID:28492532 PMID:30866059 NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935 		JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921 		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 chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Eif3c eukaryotic translation initiation factor 3, subunit C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,446,067...196,471,542
Ensembl chr 1:196,446,287...196,471,541 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More... NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867 		JBrowse link
G Fhip1b FHF complex subunit HOOK interacting protein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,718,679...159,748,449
Ensembl chr 1:159,726,004...159,748,408 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617 		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 chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551 		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 chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788 		JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159 		JBrowse link
G Hpx hemopexin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Il27 interleukin 27 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832 		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 chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2274208 PMID:22748208 PMID:25976102 PMID:27742667 PMID:28492532 More... NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,278,886...197,279,893 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 chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127 		JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156 		JBrowse link
G LOC686660 similar to olfactory receptor 692 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,715,764...159,716,744
Ensembl chr 1:159,715,755...159,716,744 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,614,585...197,648,414
Ensembl chr 1:197,614,687...197,648,416 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis		 ClinVar PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 More... NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Mir1b microRNA 1b ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Mir3582 microRNA 3582 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933 		JBrowse link
G Mrgbp MRG domain binding protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,796,257...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842 		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 chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498 		JBrowse link
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 chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925 		JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,606,215...167,656,377
Ensembl chr 3:167,606,215...167,656,377 		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 chr 1:181,213,292...181,215,327 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 chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473 		JBrowse link
G Olr158 olfactory receptor 158 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:158,910,597...158,911,556
Ensembl chr 1:158,904,179...158,911,730 		JBrowse link
G Olr163 olfactory receptor 163 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:158,972,002...158,972,967
Ensembl chr 1:158,972,002...158,972,971 		JBrowse link
G Olr170 olfactory receptor 170 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,128,222...159,129,187
Ensembl chr 1:159,128,222...159,129,187 		JBrowse link
G Olr172 olfactory receptor 172 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,204,524...159,205,480
Ensembl chr 1:159,203,518...159,207,587 		JBrowse link
G Olr184 olfactory receptor 184 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,412,927...159,413,880
Ensembl chr 1:159,412,927...159,413,880 		JBrowse link
G Olr188 olfactory receptor 188 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,454,581...159,455,519
Ensembl chr 1:159,454,581...159,455,519 		JBrowse link
G Olr190 olfactory receptor 190 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,476,168...159,477,115
Ensembl chr 1:159,472,054...159,479,841 		JBrowse link
G Olr193 olfactory receptor 193 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,514,613...159,515,554
Ensembl chr 1:159,514,558...159,520,975 		JBrowse link
G Olr194 olfactory receptor 194 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,543,892...159,544,842
Ensembl chr 1:159,543,892...159,544,887 		JBrowse link
G Olr197 olfactory receptor 197 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,601,106...159,602,059
Ensembl chr 1:159,600,106...159,604,707 		JBrowse link
G Olr198 olfactory receptor 198 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,619,288...159,620,253
Ensembl chr 1:159,616,811...159,622,534 		JBrowse link
G Olr202 olfactory receptor 202 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,695,507...159,696,475
Ensembl chr 1:159,694,964...159,701,227 		JBrowse link
G Osbpl2 oxysterol binding protein-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,570,051...196,572,060 JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 More... NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048 		JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 ISO
ISS		 MouseDO
RGD		 PMID:11717424 RGD:734785 NCBI chr20:4,112,520...4,132,774
Ensembl chr20:4,122,463...4,132,774 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648 		JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770 		JBrowse link
G Rbbp8nl RBBP8 N-terminal like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092 		JBrowse link
G RGD1561034 similar to hypothetical protein MGC34805 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,722,255...159,725,863
Ensembl chr 1:159,718,679...159,725,904 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645 		JBrowse link
G Rps21-ps1 ribosomal protein S21, pseudogene 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427 		JBrowse link
G Rrp8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:160,081,092...160,088,709
Ensembl chr 1:160,084,295...160,089,331 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Samd10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,700,280...168,704,427
Ensembl chr 3:168,700,284...168,705,248 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,382,941...196,383,635
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Sgf29 SAGA complex associated factor 29 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,238,449...181,271,931
Ensembl chr 1:181,238,468...181,274,781 		JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579 		JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350 		JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331 		JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,493,975...168,497,616 JBrowse link
G Slco4a1 solute carrier organic anion transporter family, member 4a1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:12946273 RGD:1581253 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915 		JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056 		JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562 		JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504 		JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Timm10b translocase of inner mitochondrial membrane 10B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,980,525...159,983,371
Ensembl chr 1:159,980,484...159,981,642 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,435,375...196,444,368 JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625 		JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762 		JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis		 CTD
ClinVar		 PMID:9295267 PMID:9536098 PMID:9788728 PMID:10320038 PMID:10330339 More... NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129 		JBrowse link
G Trim3 tripartite motif-containing 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:159,950,921...159,973,600
Ensembl chr 1:159,944,908...159,973,600 		JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448 		JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395 		JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091