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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