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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:basal ganglia disease
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Accession:DOID:679 term browser browse the term
Definition:Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
Synonyms:exact_synonym: Basal Ganglia Disorder;   Basal Ganglia Disorders;   Extrapyramidal Disorder;   Extrapyramidal Disorders;   Lenticulostriate Disorder;   Lenticulostriate Disorders;   basal ganglia diseases
 primary_id: MESH:D001480;   RDO:0001075
For additional species annotation, visit the Alliance of Genome Resources.



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basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16000684 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
JBrowse link
G DRD2 dopamine receptor D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11198054 PMID:12211096 PMID:18480698 PMID:19225277 PMID:19506579 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
JBrowse link
G DRD3 dopamine receptor D3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19506579 NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
JBrowse link
G FTL ferritin light chain IAGP DNA:insertion:exon:460_461insA(human) RGD PMID:11438811 RGD:5509839 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:18480698 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
JBrowse link
G MICU1 mitochondrial calcium uptake 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chr10:72,367,339...72,626,096
Ensembl chr10:72,367,340...72,626,131
JBrowse link
G PDE8B phosphodiesterase 8B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
G PDGFB platelet derived growth factor subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRB platelet derived growth factor receptor beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:7214106 NCBI chr 6:22,287,246...22,302,897
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G SLC19A3 solute carrier family 19 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19387023 NCBI chr 2:227,683,763...227,718,030
Ensembl chr 2:227,683,763...227,718,028
JBrowse link
G SLC20A2 solute carrier family 20 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 8:42,416,475...42,542,143
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279
JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP
EXP
DNA:mutations:exons:
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 More... RGD:11069491 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24686847 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
JBrowse link
G LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:21454563 PMID:23592335 PMID:25604658 PMID:31130681 NCBI chr19:12,805,831...12,806,863 JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP
IEA
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP
EXP
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 More... NCBI chr13:50,909,678...50,970,462
Ensembl chr13:50,909,747...51,024,120
JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,764
JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP
IEA
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr20:36,873,071...36,894,235
Ensembl chr20:36,876,121...36,894,235
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP
EXP
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G USP18 ubiquitin specific peptidase 18 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr22:18,149,855...18,177,397
Ensembl chr22:18,150,170...18,177,397
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMIGO3 adhesion molecule with Ig like domain 3 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,716,829...49,719,684
Ensembl chr 3:49,716,829...49,719,684
JBrowse link
G AMT aminomethyltransferase IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685
JBrowse link
G APEH acylaminoacyl-peptide hydrolase IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,673,102...49,683,971
Ensembl chr 3:49,674,014...49,683,971
JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,918,821...48,986,382
Ensembl chr 3:48,918,821...48,986,382
JBrowse link
G ARIH2OS ARIH2 opposite strand lncRNA IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,917,788...48,919,385
Ensembl chr 3:48,917,782...48,918,823
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G BSN bassoon presynaptic cytomatrix protein IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,554,477...49,671,549
Ensembl chr 3:49,554,477...49,671,549
JBrowse link
G C3orf62 chromosome 3 open reading frame 62 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,268,596...49,277,232
Ensembl chr 3:49,268,596...49,277,232
JBrowse link
G C3orf84 chromosome 3 open reading frame 84 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,177,539...49,192,684
Ensembl chr 3:49,177,634...49,191,858
JBrowse link
G CAMKV CaM kinase like vesicle associated IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,857,989...49,869,906
Ensembl chr 3:49,857,988...49,869,935
JBrowse link
G CCDC71 coiled-coil domain containing 71 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,162,535...49,166,331
Ensembl chr 3:49,162,535...49,166,331
JBrowse link
G CDHR4 cadherin related family member 4 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,790,732...49,802,741
Ensembl chr 3:49,790,732...49,799,873
JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,015,399...49,021,505
Ensembl chr 3:49,015,488...49,022,293
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,227,068...50,259,362
Ensembl chr 3:50,226,292...50,259,362
JBrowse link
G GNAT1 G protein subunit alpha transducin 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696
JBrowse link
G GPX1 glutathione peroxidase 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,353
JBrowse link
G HYAL1 hyaluronidase 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,299,889...50,312,951
Ensembl chr 3:50,299,890...50,312,381
JBrowse link
G HYAL3 hyaluronidase 3 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,292,832...50,299,405
Ensembl chr 3:50,292,831...50,299,405
JBrowse link
G IFRD2 interferon related developmental regulator 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,287,732...50,292,429
Ensembl chr 3:50,287,732...50,292,918
JBrowse link
G IHO1 interactor of HORMAD1 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,198,428...49,258,106
Ensembl chr 3:49,198,428...49,258,106
JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,024,325...49,029,750
Ensembl chr 3:49,024,325...49,029,447
JBrowse link
G INKA1 inka box actin regulator 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,803,261...49,805,030
Ensembl chr 3:49,803,261...49,805,030
JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,724,294...49,786,542
Ensembl chr 3:49,724,294...49,786,542
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,688,003...48,717,258
Ensembl chr 3:48,688,003...48,740,353
JBrowse link
G KLHDC8B kelch domain containing 8B IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,171,120...49,176,487
Ensembl chr 3:49,171,598...49,176,486
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,121,114...49,133,066
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G LSMEM2 leucine rich single-pass membrane protein 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,277,907...50,288,116
Ensembl chr 3:50,279,087...50,288,114
JBrowse link
G MIR191 microRNA 191 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,618...49,020,709
Ensembl chr 3:49,020,618...49,020,709
JBrowse link
G MON1A MON1 homolog A, secretory trafficking associated IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,908,869...49,929,811
Ensembl chr 3:49,907,160...49,930,173
JBrowse link
G MST1 macrophage stimulating 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,683,947...49,689,523
Ensembl chr 3:49,683,947...49,689,501
JBrowse link
G MST1R macrophage stimulating 1 receptor IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,886,471...49,903,873
Ensembl chr 3:49,887,002...49,903,873
JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416
JBrowse link
G NCKIPSD NCK interacting protein with SH3 domain IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,673,844...48,685,915
Ensembl chr 3:48,673,844...48,686,364
JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495
JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,422,333...49,429,324
Ensembl chr 3:49,422,333...49,429,326
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153
JBrowse link
G PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,517,684...48,562,383
Ensembl chr 3:48,517,684...48,562,015
JBrowse link
G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,744,601...48,847,874
Ensembl chr 3:48,744,597...48,847,874
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,095,932...49,104,758
Ensembl chr 3:49,095,932...49,105,130
JBrowse link
G QRICH1 glutamine rich 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
JBrowse link
G RBM5 RNA binding motif protein 5 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,088,919...50,119,021
Ensembl chr 3:50,088,919...50,119,021
JBrowse link
G RBM6 RNA binding motif protein 6 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,940,041...50,077,249
Ensembl chr 3:49,940,007...50,100,045
JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G RNF123 ring finger protein 123 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,689,557...49,721,529
Ensembl chr 3:49,689,538...49,721,529
JBrowse link
G SEMA3B semaphorin 3B IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,267,652...50,277,546
Ensembl chr 3:50,267,558...50,277,546
JBrowse link
G SEMA3F semaphorin 3F IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075
JBrowse link
G SEMA3F-AS1 SEMA3F antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,116,022...50,156,085
Ensembl chr 3:50,116,022...50,156,085
JBrowse link
G SHISA5 shisa family member 5 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,467,876...48,504,810
Ensembl chr 3:48,467,798...48,504,826
JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904
JBrowse link
G SLC26A6 solute carrier family 26 member 6 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493
JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,205,268...50,221,486
Ensembl chr 3:50,205,246...50,221,486
JBrowse link
G TCTA T cell leukemia translocation altered IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,412,423...49,416,476
Ensembl chr 3:49,412,212...49,416,476
JBrowse link
G TMEM89 transmembrane protein 89 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,620,759...48,621,769
Ensembl chr 3:48,620,759...48,621,769
JBrowse link
G TRAIP TRAF interacting protein IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,828,595...49,856,584
Ensembl chr 3:49,828,601...49,856,574
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar
OMIM
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G UBA7 ubiquitin like modifier activating enzyme 7 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,805,209...49,813,953
Ensembl chr 3:49,805,209...49,813,953
JBrowse link
G UCN2 urocortin 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781
JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,599,002...48,609,664
Ensembl chr 3:48,599,002...48,610,976
JBrowse link
G USP19 ubiquitin specific peptidase 19 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,108,050...49,120,933
Ensembl chr 3:49,108,046...49,120,938
JBrowse link
G USP4 ubiquitin specific peptidase 4 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712
JBrowse link
G WDR6 WD repeat domain 6 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,007,391...49,015,951
Ensembl chr 3:49,007,062...49,015,953
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr13:50,909,678...50,970,462
Ensembl chr13:50,909,747...51,024,120
JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,764
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar
OMIM
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20131292 More... NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4 ClinVar PMID:9536098 PMID:15870678 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr19:12,805,831...12,806,863 JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4 ClinVar
OMIM
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP
EXP
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,873,071...36,894,235
Ensembl chr20:36,876,121...36,894,235
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Aicardi-goutieres syndrome 6
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
ClinVar
OMIM
PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 PMID:19017046 More... NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 IAGP ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar
OMIM
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 More... NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LSM11 LSM11, U7 small nuclear RNA associated IAGP ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 8 OMIM
ClinVar
PMID:33230297 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 9 ClinVar PMID:33230297 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003
JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 9 OMIM
ClinVar
PMID:33230297 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
JBrowse link
Alopecia, Hypogonadism, Extrapyramidal Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:6876115 PMID:16199547 PMID:17710875 PMID:18049083 PMID:18175354 More... NCBI chr 2:171,434,166...171,491,029
Ensembl chr 2:171,434,217...171,485,052
JBrowse link
G METTL8 methyltransferase 8, methylcytidine IAGP ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:17710875 PMID:19026396 PMID:25741868 PMID:26612766 PMID:28492532 NCBI chr 2:171,315,746...171,434,772
Ensembl chr 2:171,315,746...171,434,802
JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID3C AT-rich interaction domain 3C IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,621,049...34,629,066
Ensembl chr 9:34,621,074...34,629,045
JBrowse link
G C9orf131 chromosome 9 open reading frame 131 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:35,041,095...35,045,986
Ensembl chr 9:35,041,095...35,045,986
JBrowse link
G CCL19 C-C motif chemokine ligand 19 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
JBrowse link
G CCL21 C-C motif chemokine ligand 21 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136
JBrowse link
G CCL27 C-C motif chemokine ligand 27 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,661,890...34,662,657
Ensembl chr 9:34,661,880...34,664,048
JBrowse link
G CNTFR ciliary neurotrophic factor receptor IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,551,432...34,590,386
Ensembl chr 9:34,551,432...34,590,140
JBrowse link
G DCTN3 dynactin subunit 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,613,546...34,620,518
Ensembl chr 9:34,613,545...34,620,523
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,989,745...34,998,900
Ensembl chr 9:34,989,641...34,998,900
JBrowse link
G ENHO energy homeostasis associated IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,521,043...34,522,990
Ensembl chr 9:34,521,043...34,522,990
JBrowse link
G FAM205A family with sequence similarity 205 member A IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,723,053...34,729,488
Ensembl chr 9:34,723,053...34,729,488
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
JBrowse link
G PHF24 PHD finger protein 24 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,810,040...34,982,544
Ensembl chr 9:34,957,608...34,982,544
JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,610,495...34,612,097
Ensembl chr 9:34,610,486...34,612,104
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia ClinVar PMID:28492532 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14 without frontotemporal dementia
ClinVar
OMIM
PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBQLN2 ubiquilin 2 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia ClinVar
OMIM
PMID:19377476 PMID:21857683 PMID:22560112 PMID:23138764 PMID:24771548 More... NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBA4A tubulin alpha 4a IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
ClinVar
OMIM
PMID:25374358 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902
JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUS FUS RNA binding protein IAGP DNA:mutations:cds:
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive
ClinVar
OMIM
RGD
PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... RGD:9685712 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605
JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia ClinVar PMID:30103325 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARK7 Parkinsonism associated deglycase IAGP ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 susceptibility
no_association
IAGP
EXP
DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:25741868 PMID:16051700 PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBA glucosylceramidase beta IAGP ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G SNCA synuclein alpha IAGP ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... NCBI chr 4:89,724,099...89,838,324
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFB platelet derived growth factor subunit B IEA OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEA
ISS
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G SLC20A2 solute carrier family 20 member 2 IEA
ISS
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 8:42,416,475...42,542,143
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
biotin-responsive basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2orf83 chromosome 2 open reading frame 83 IAGP ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease ClinVar NCBI chr 2:227,610,090...227,633,320
Ensembl chr 2:227,610,090...227,648,606
JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP
EXP
ClinVar Annotator: match by term: Basal ganglia disease, biotin-responsive
ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease
ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease
ClinVar Annotator: match by term: ENCEPHALOPATHY, THIAMINE-RESPONSIVE
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 More... NCBI chr 2:227,683,763...227,718,030
Ensembl chr 2:227,683,763...227,718,028
JBrowse link
chromosome 3-linked frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHMP2B charged multivesicular body protein 2B IAGP ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 17
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
ClinVar Annotator: match by term: Frontotemporal dementia, chromosome 3-linked
ClinVar
OMIM
PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 PMID:17956895 More... NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked ClinVar NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
Copper-Overload Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G CASP3 caspase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G COMMD1 copper metabolism domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 2:61,888,391...62,136,066
Ensembl chr 2:61,888,724...62,147,247
JBrowse link
G HGF hepatocyte growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G KRT19 keratin 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr17:41,523,617...41,528,308
Ensembl chr17:41,523,617...41,528,308
JBrowse link
G KRT7 keratin 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr12:52,233,243...52,252,667
Ensembl chr12:52,232,520...52,252,186
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MKI67 marker of proliferation Ki-67 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G SMAD2 SMAD family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:47,808,957...47,931,188
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ClinVar
OMIM
PMID:25741868 PMID:27817865 PMID:32313153 PMID:33401012 NCBI chr 1:29,192,657...29,230,948
Ensembl chr 1:29,192,657...29,230,942
JBrowse link
frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
JBrowse link
G ARSA arylsulfatase A IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:1353340 PMID:10477432 PMID:12809637 PMID:16678723 PMID:18693274 More... NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G BACE2 beta-secretase 2 IEP mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr21:41,168,160...41,282,530
Ensembl chr21:41,167,801...41,282,530
JBrowse link
G CHMP2B charged multivesicular body protein 2B no_association IAGP
EXP
DNA:mutations:cds
ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
RGD
PMID:16041373 PMID:26467025 PMID:28492532 PMID:16041373 PMID:19202337 More... RGD:5688398, RGD:5688716, RGD:5688721 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G GRN granulin precursor IAGP
EXP
ISO
DNA:mutations, haploinsufficiency: :
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
DNA:deletion: :g.102delC(humN)
DNA:missense mutation:signal peptide:p.A9D(human)
ClinVar
CTD
RGD
PMID:16862116 PMID:16950801 PMID:18234697 PMID:18723524 PMID:19158106 More... RGD:5509588, RGD:5509612, RGD:5509609, RGD:5509602, RGD:5509589 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G LRRK2 leucine rich repeat kinase 2 IEP
IAGP
ClinVar Annotator: match by term: Frontotemporal dementia ClinVar
RGD
PMID:17639429 RGD:5508418 NCBI chr12:40,224,890...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MAPT microtubule associated protein tau no_association IAGP
EXP
IMP
DNA:missense mutations, splice site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS
ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction: IVS10+16C>T(human)
DNA:haplotype
ClinVar
CTD
OMIM
RGD
PMID:1416801 PMID:7783864 PMID:7936288 PMID:7977375 PMID:8673924 More... RGD:1302531, RGD:10412702, RGD:10412699, RGD:8158108 NCBI chr17:45,894,538...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MAPT-AS1 MAPT antisense RNA 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 NCBI chr17:45,843,356...45,895,513
Ensembl chr17:45,799,390...45,895,680
JBrowse link
G MARCHF4 membrane associated ring-CH-type finger 4 IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr 2:216,257,865...216,372,483
Ensembl chr 2:216,257,865...216,372,483
JBrowse link
G MASP2 MBL associated serine protease 2 IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,026,523...11,047,239
JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein disease_progression IAGP DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr 3:39,467,680...39,529,497
Ensembl chr 3:39,467,198...39,529,479
JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 6:161,347,417...162,727,802
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G PSEN1 presenilin 1 IAGP
EXP
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS
ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11094121 PMID:11389157 PMID:11895378 PMID:15776278 PMID:17431506 More... NCBI chr14:73,136,436...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G TARDBP TAR DNA binding protein IAGP
ISS
ClinVar Annotator: match by term: Frontotemporal dementia
OMIM:600274 | OMIM:600795
ClinVar
MouseDO
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
JBrowse link
G TM2D3 TM2 domain containing 3 IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr15:101,632,977...101,652,381
Ensembl chr15:101,621,444...101,652,391
JBrowse link
G TNK1 tyrosine kinase non receptor 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr17:7,380,559...7,389,964
Ensembl chr17:7,380,534...7,389,774
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 ISS OMIM:600274 | OMIM:600795 MouseDO NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM10 ADAM metallopeptidase domain 10 IAGP ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866
JBrowse link
G TTC3 tetratricopeptide repeat domain 3 IAGP ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr21:37,073,254...37,203,118
Ensembl chr21:37,073,226...37,203,112
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G C5orf60 chromosome 5 open reading frame 60 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,641,544...179,645,046
Ensembl chr 5:179,641,544...179,645,046
JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit IAGP
EXP
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:26769963 PMID:28492532 NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866
JBrowse link
G CANX calnexin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,678,646...179,731,641
Ensembl chr 5:179,678,628...179,731,641
JBrowse link
G CBY3 chibby family member 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,678,560...179,681,034
Ensembl chr 5:179,678,560...179,681,034
JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784
JBrowse link
G LTC4S leukotriene C4 synthase IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,793,986...179,796,647
Ensembl chr 5:179,793,980...179,796,647
JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,732,822...179,777,283
Ensembl chr 5:179,732,822...179,777,283
JBrowse link
G MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,797,597...179,806,977
Ensembl chr 5:179,797,597...179,806,952
JBrowse link
G RUFY1 RUN and FYVE domain containing 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr 5:179,550,551...179,610,012
Ensembl chr 5:179,550,554...179,610,012
JBrowse link
G SQSTM1 sequestosome 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:9536098 PMID:11992264 PMID:12374763 PMID:14584883 PMID:15125799 More... NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ClinVar
OMIM
PMID:24934289 PMID:25155093 PMID:25576308 PMID:25741868 PMID:28492532 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SQSTM1 sequestosome 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
ClinVar Annotator: match by term: FTDALS3
OMIM
ClinVar
PMID:11992264 PMID:14584883 PMID:15176995 PMID:15493999 PMID:15647816 More... NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 NCBI chr12:57,550,039...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G TBK1 TANK binding kinase 1 IAGP ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25700176 PMID:25741868 More... NCBI chr12:64,452,105...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F IAGP ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 OMIM
ClinVar
PMID:27080313 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYLD CYLD lysine 63 deubiquitinase IAGP ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 OMIM
ClinVar
PMID:23338750 PMID:32185393 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935
JBrowse link
Gilles de la Tourette syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAIAP2 BAR/IMD domain containing adaptor protein 2 IAGP DNA:snps, haplotype:multiple (human) RGD PMID:15303240 RGD:11576298 NCBI chr17:81,035,131...81,117,434
Ensembl chr17:81,035,122...81,117,434
JBrowse link
G DRD2 dopamine receptor D2 treatment ISO mRNA:increased expression:striatum (rat) RGD PMID:19467315 PMID:22876458 RGD:2311576, RGD:6907444 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
JBrowse link
G DRD3 dopamine receptor D3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10523822 NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
JBrowse link
G DRD4 dopamine receptor D4 susceptibility
no_association
IAGP DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:25258183 PMID:8725747 RGD:13209010, RGD:13210516 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IDA RGD PMID:22683190 RGD:9693691 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G HDC histidine decarboxylase IAGP ClinVar Annotator: match by term: Tourette Syndrome
ClinVar Annotator: match by term: Tourette syndrome
ClinVar
OMIM
PMID:20445167 PMID:24411733 PMID:25741868 NCBI chr15:50,241,945...50,266,049
Ensembl chr15:50,241,947...50,265,965
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISS OMIM:137580 MouseDO NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISS OMIM:137580 MouseDO NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 IAGP ClinVar Annotator: match by term: Tourette Syndrome ClinVar
OMIM
PMID:17003809 PMID:17035247 PMID:18413575 PMID:19018236 PMID:20351724 More... NCBI chr13:83,877,205...83,882,474
Ensembl chr13:83,877,205...83,882,474
JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP ClinVar Annotator: match by term: Tourette Syndrome ClinVar NCBI chr12:23,529,499...24,562,701
Ensembl chr12:23,529,504...24,562,544
JBrowse link
G TDO2 tryptophan 2,3-dioxygenase IAGP RGD PMID:8873217 RGD:1358595 NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406
JBrowse link
GRN-related frontotemporal lobar degeneration with TDP43 inclusions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASB16 ankyrin repeat and SOCS box containing 16 IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,170,704...44,179,084
Ensembl chr17:44,170,447...44,179,084
JBrowse link
G ATXN7L3 ataxin 7 like 3 IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,191,805...44,199,884
Ensembl chr17:44,191,805...44,200,113
JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,735...44,076,344
JBrowse link
G GRN granulin precursor IEP
IAGP
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive
ClinVar
OMIM
RGD
PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More... RGD:5509604 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G HDAC5 histone deacetylase 5 IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,076,753...44,123,651
Ensembl chr17:44,076,746...44,123,702
JBrowse link
G HROB homologous recombination factor with OB-fold IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,141,930...44,162,477
Ensembl chr17:44,141,906...44,162,476
JBrowse link
G LSM12 LSM12 homolog IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,034,328...44,067,587
Ensembl chr17:44,034,328...44,067,619
JBrowse link
G RUNDC3A RUN domain containing 3A IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,308,559...44,318,670
Ensembl chr17:44,308,413...44,318,670
JBrowse link
G SLC25A39 solute carrier family 25 member 39 IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,319,627...44,324,845
Ensembl chr17:44,319,625...44,324,870
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,248,390...44,268,161
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G TARDBP TAR DNA binding protein ISS OMIM:607485 MouseDO NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
JBrowse link
G TMUB2 transmembrane and ubiquitin like domain containing 2 IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,186,972...44,191,929
Ensembl chr17:44,186,970...44,191,929
JBrowse link
G UBTF upstream binding transcription factor IAGP ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626
JBrowse link
Huntington's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase treatment ISO
IDA
RGD PMID:152600 PMID:6237280 RGD:10047058, RGD:10046047 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) IEP protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AGTR1 angiotensin II receptor type 1 IEP protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G APOA4 apolipoprotein A4 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
JBrowse link
G ATF2 activating transcription factor 2 IEP RGD PMID:15878807 RGD:10047400 NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
JBrowse link
G ATRX ATRX chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:77,504,880...77,786,235
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BAG1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr 9:33,252,471...33,264,708
Ensembl chr 9:33,247,820...33,264,720
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041, RGD:10054048 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCHE butyrylcholinesterase IEP protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BDNF brain derived neurotrophic factor treatment IEP
IMP
ISO
mRNA, protein:decreased expression:cerebral cortex RGD PMID:18093249 PMID:17885687 PMID:19499586 RGD:10058981, RGD:10415531, RGD:10059353 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CASP3 caspase 3 treatment ISO
IEP
RGD PMID:10888929 PMID:15668790 RGD:13432082, RGD:10413886 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CASP8 caspase 8 IEP protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CASP9 caspase 9 severity IEP
ISO
protein:increased expression:caudate nucleus:
protein:increased expression:striatum:
RGD PMID:12095160 PMID:12095160 RGD:13432083, RGD:13432083 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CAT catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:21651979 PMID:17213233 RGD:6484269, RGD:10401191 NCBI chr19:33,299,934...33,302,564
Ensembl chr19:33,299,934...33,302,534
JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
JBrowse link
G CHAT choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G CIB1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
JBrowse link
G CNR2 cannabinoid receptor 2 ISO RGD PMID:19115380 PMID:19115380 RGD:2316196, RGD:2316196 NCBI chr 1:23,870,515...23,913,362
Ensembl chr 1:23,870,515...23,913,362
JBrowse link
G CNTF ciliary neurotrophic factor treatment IMP
ISO
human gene in a cynomolgus monkey model RGD PMID:12040055 PMID:9121555 RGD:628474, RGD:734795 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:734817, RGD:10059577 NCBI chr 2:207,529,943...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G CREBBP CREB binding protein treatment
disease_progression
ISO
IEP
protein:altered localization:nucleus RGD PMID:19291221 PMID:20448484 PMID:11264541 RGD:10059583, RGD:13432094, RGD:13432093 NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTSH cathepsin H IEP protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr15:78,921,058...78,945,089
Ensembl chr15:78,921,058...78,949,574
JBrowse link
G CYCS cytochrome c, somatic severity IEP protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
JBrowse link
G DGCR5 DiGeorge syndrome critical region gene 5 IEP down-regulated RGD PMID:22202438 RGD:11073597 NCBI chr22:18,970,498...19,031,242
Ensembl chr22:18,985,836...18,994,501
Ensembl chr22:18,985,836...18,994,501
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,663...122,227,456
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex
RGD PMID:25568121 PMID:24728190 RGD:13432154, RGD:13432155 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841
JBrowse link
G DNAH6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 2:84,459,572...84,819,589
Ensembl chr 2:84,516,455...84,819,589
JBrowse link
G DRD1 dopamine receptor D1 ISO
ISS
OMIM:143100
protein:decreased expression:cerebral cortex (mouse)
MouseDO
RGD
PMID:18815258 PMID:16905556 PMID:12111832 RGD:2302117, RGD:7248682, RGD:5686414 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
JBrowse link
G DRD2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414, RGD:7248682 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
JBrowse link
G DRD5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
JBrowse link
G E2F1 E2F transcription factor 1 IEP protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO
IDA
RGD PMID:11468270 PMID:15567511 PMID:11468270 RGD:10395345, RGD:10395348, RGD:10395345 NCBI chr 2:37,099,210...37,157,065
Ensembl chr 2:37,099,210...37,157,522
JBrowse link
G ELK1 ETS transcription factor ELK1 IEP RGD PMID:20126313 RGD:7488914 NCBI chr  X:47,635,520...47,650,604
Ensembl chr  X:47,635,521...47,650,604
JBrowse link
G EP300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G F2 coagulation factor II, thrombin IEP protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FAAH fatty acid amide hydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 1:46,394,317...46,413,845
Ensembl chr 1:46,394,317...46,413,848
JBrowse link
G FAS Fas cell surface death receptor IEP protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IEP protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FOXP1 forkhead box P1 ISO
IEP
mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:16405510 PMID:16405510 RGD:11560524, RGD:11560524 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
JBrowse link
G GDNF glial cell derived neurotrophic factor EXP CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G GIT1 GIT ArfGAP 1 IEP protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr17:29,573,475...29,589,648
Ensembl chr17:29,573,475...29,594,054
JBrowse link
G GJA1 gap junction protein alpha 1 IEP RGD PMID:10873295 RGD:7207854 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GLUL glutamate-ammonia ligase IDA RGD PMID:6237280 PMID:3159462 RGD:10046047, RGD:13524508 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
JBrowse link
G GPX1 glutathione peroxidase 1 IEP RGD PMID:18588971 RGD:13432193 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,353
JBrowse link
G GPX6 glutathione peroxidase 6 IEP RGD PMID:18588971 RGD:13432193 NCBI chr 6:28,503,296...28,515,793
Ensembl chr 6:28,503,296...28,528,215
JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 onset IAGP DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A onset ISO
IAGP
DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human)
RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B onset ISO
IAGP
DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)
RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G GRM5 glutamate metabotropic receptor 5 treatment
disease_progression
ISO RGD PMID:23489026 PMID:15306259 PMID:25160573 PMID:24282028 RGD:13432558, RGD:13432562, RGD:13432561, RGD:13432158 NCBI chr11:88,504,576...89,065,982
Ensembl chr11:88,504,576...89,065,982
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chr 2:42,767,087...42,801,002
Ensembl chr 2:42,767,089...42,792,593
JBrowse link
G HAP1 huntingtin associated protein 1 onset
no_association
IAGP
ISO
DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)
DNA:SNP:multiple
RGD PMID:18192679 PMID:24324398 PMID:26000918 PMID:20512606 PMID:22402331 More... RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 NCBI chr17:41,717,739...41,734,646
Ensembl chr17:41,717,742...41,734,644
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex
RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr 1:32,292,083...32,333,628
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex
RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
JBrowse link
G HDAC7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr12:47,782,722...47,820,612
Ensembl chr12:47,782,722...47,833,132
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HNMT histamine N-methyltransferase IEP RGD PMID:21106039 RGD:5509774 NCBI chr 2:137,964,068...138,016,364
Ensembl chr 2:137,964,020...138,016,364
JBrowse link
G HPCA hippocalcin IEP mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 1:32,885,965...32,894,646
Ensembl chr 1:32,885,994...32,898,441
JBrowse link
G HSF1 heat shock transcription factor 1 treatment IMP
ISO
human gene in a mouse model
protein:decreased expression:liver (mouse)
RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372, RGD:10402387, RGD:10402386 NCBI chr 8:144,291,603...144,314,720
Ensembl chr 8:144,291,591...144,314,720
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr11:123,057,489...123,062,366
Ensembl chr11:123,057,489...123,063,230
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,725...74,533,332
JBrowse link
G HTT huntingtin onset
treatment
IMP
IAGP
EXP
ISO
IEP
ClinVar Annotator: match by term: Huntington disease
CTD Direct Evidence: marker/mechanism
DNA:repeats:cds:CAG (human)
mRNA:altered expression:cortex, striatum:
ClinVar
CTD
OMIM
RGD
PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 More... RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G IFT57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
JBrowse link
G IFT88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr13:20,566,446...20,691,444
Ensembl chr13:20,567,138...20,691,444
JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO
IDA
human protein in a rat model RGD PMID:23384443 PMID:15371744 PMID:25140802 RGD:10045865, RGD:12904970, RGD:10045870 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IL6 interleukin 6 treatment IMP RGD PMID:11860469 RGD:10402809 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6R interleukin 6 receptor treatment IMP RGD PMID:11860469 RGD:10402809 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 3:48,688,003...48,717,258
Ensembl chr 3:48,688,003...48,740,353
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)
RGD PMID:21145001 PMID:9761455 PMID:19193873 RGD:6480685, RGD:6483009, RGD:6480875 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
JBrowse link
G KDM5C lysine demethylase 5C IEP mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422
JBrowse link
G L1CAM L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G LEP leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LINC00342 long intergenic non-protein coding RNA 342 IEP down-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 2:95,807,052...95,826,981
Ensembl chr 2:95,807,052...95,835,003
JBrowse link
G LOC109461479 huntingtin repeat instability region IAGP ClinVar Annotator: match by term: Huntington disease ClinVar PMID:25741868 NCBI chr 4:3,074,877...3,074,940 JBrowse link
G MAOA monoamine oxidase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,817
JBrowse link
G MAOB monoamine oxidase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:43,766,610...43,882,450
Ensembl chr  X:43,766,610...43,882,450
JBrowse link
G MAP2 microtubule associated protein 2 IEP RGD PMID:20092829 RGD:6483090 NCBI chr 2:209,424,047...209,734,118
Ensembl chr 2:209,424,047...209,734,118
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 onset
treatment
ISO
IAGP
protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human)
RGD PMID:19646509 PMID:18327563 PMID:19646509 RGD:10412311, RGD:10412314, RGD:10412311 NCBI chr 6:136,557,046...136,793,098
Ensembl chr 6:136,557,046...136,792,477
JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683
JBrowse link
G MEG3 maternally expressed 3 IEP up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MIR132 microRNA 132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr17:2,049,908...2,050,008
Ensembl chr17:2,049,908...2,050,008
JBrowse link
G MIR22 microRNA 22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr17:1,713,903...1,713,987
Ensembl chr17:1,713,903...1,713,987
JBrowse link
G MIR222 microRNA 222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124
JBrowse link
G MIR29C microRNA 29c ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939
JBrowse link
G MIR448 microRNA 448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:114,823,454...114,823,564
Ensembl chr  X:114,823,454...114,823,564
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MSH2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II severity IEP RGD PMID:20660112 RGD:13506651 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO RGD PMID:20480544 RGD:5687693 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
JBrowse link
G MTNR1A melatonin receptor 1A treatment ISO
IEP
mRNA:decreased expression:brain RGD PMID:21994366 PMID:21994366 RGD:9686058, RGD:9686058 NCBI chr 4:186,532,769...186,555,567
Ensembl chr 4:186,533,655...186,555,567
JBrowse link
G NAPEPLD N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 7:103,099,776...103,150,001
Ensembl chr 7:103,099,776...103,149,560
JBrowse link
G NCOR1 nuclear receptor corepressor 1 IEP protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr17:16,029,157...16,216,475
Ensembl chr17:16,029,157...16,218,185
JBrowse link
G NEAT1 nuclear paraspeckle assembly transcript 1 IEP up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr11:65,422,798...65,445,540
Ensembl chr11:65,422,774...65,445,540
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 4:102,501,266...102,617,302
Ensembl chr 4:102,501,331...102,617,302
JBrowse link
G NGFR nerve growth factor receptor IEP mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NOG noggin treatment IMP RGD PMID:17885687 RGD:10415531 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPY neuropeptide Y onset
no_association
IAGP
ISO
DNA:SNP: :rs3037354 (human)
mRNA:decreased expression:hypothalamus
DNA:SNP: :rs16147 (human)
RGD PMID:24121255 PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606, RGD:10433553, RGD:10433112, RGD:10431606 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G NPY2R neuropeptide Y receptor Y2 onset IAGP DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 4:155,173,723...155,217,076
Ensembl chr 4:155,208,636...155,217,078
JBrowse link
G NRF1 nuclear respiratory factor 1 onset ISO
IAGP
mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human)
RGD PMID:20529956 PMID:21595933 RGD:6771173, RGD:6770890 NCBI chr 7:129,611,720...129,757,076
Ensembl chr 7:129,611,720...129,757,082
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G OPTN optineurin IEP protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 IEP protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PCP4 Purkinje cell protein 4 IEP protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr21:39,867,438...39,929,392
Ensembl chr21:39,867,438...39,929,397
JBrowse link
G PLCB3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,530...64,269,150
JBrowse link
G POLR2A RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISS OMIM:143100 MouseDO NCBI chr 6:35,342,558...35,428,180
Ensembl chr 6:35,342,558...35,428,191
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha onset
severity
no_association
treatment
IAGP
ISO
IEP
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
protein:increased expression:subthalamic nucleus (rat)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:brain (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:snps, haplotypes:multiple (human)
mRNA:decreased expression:medium spiny neuron (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:22589246 PMID:22813864 PMID:21211002 PMID:21757867 PMID:19133136 More... RGD:6484259, RGD:10395291, RGD:10395290, RGD:10395289, RGD:10053656, RGD:10053663, RGD:6770890, RGD:10053656, RGD:10053650, RGD:7242018, RGD:10053648, RGD:7242018, RGD:7242018, RGD:6484269 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chr17:39,626,735...39,636,625
Ensembl chr17:39,626,740...39,636,626
JBrowse link
G PPP1R9A protein phosphatase 1 regulatory subunit 9A ISO
IEP
mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus
RGD PMID:20089533 PMID:20089533 RGD:10043799, RGD:10043799 NCBI chr 7:94,907,202...95,296,415
Ensembl chr 7:94,907,202...95,296,415
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 4:101,023,418...101,348,295
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO
IDA
protein:increased phosphorylation, altered localization:nucleus
protein:altered localization:nucleus
RGD PMID:21768291 PMID:21768291 RGD:6484534, RGD:6484534 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 6:161,347,417...162,727,802
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IEP RGD PMID:14684867 RGD:6483364 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 NCBI chr16:29,670,588...29,698,699
Ensembl chr16:29,663,279...29,698,699
JBrowse link
G RCAN1 regulator of calcineurin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr21:34,516,442...34,615,123
Ensembl chr21:34,513,142...34,615,113
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 IEP protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159 NCBI chr 1:150,926,263...150,964,737
Ensembl chr 1:150,926,263...150,964,744
JBrowse link
G SIN3A SIN3 transcription regulator family member A IEP protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr15:75,369,379...75,455,819
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SIRT1 sirtuin 1 ISO
IAGP
IEP
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex
RGD PMID:22179316 PMID:9949199 PMID:18538940 RGD:9585998, RGD:10395240, RGD:9586004 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC18A3 solute carrier family 18 member A3 IEP mRNA, protein:decreased expression:striatum RGD PMID:16987871 RGD:5686805 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G SLC1A2 solute carrier family 1 member 2 IEP
ISO
RGD PMID:9100675 PMID:17409241 RGD:13432194, RGD:13432195 NCBI chr11:35,251,205...35,420,058
Ensembl chr11:35,251,205...35,420,063
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 6:44,219,587...44,234,144
Ensembl chr 6:44,219,553...44,234,142
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 IEP protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr20:43,457,893...43,464,243
Ensembl chr20:43,457,893...43,466,046
JBrowse link
G SYNE3 spectrin repeat containing nuclear envelope family member 3 IEP up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:95,407,266...95,516,650
Ensembl chr14:95,407,266...95,516,650
JBrowse link
G TBP TATA-box binding protein severity IEP protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
JBrowse link
G TFAM transcription factor A, mitochondrial IAGP
ISO
mRNA:decreased expression:striatum RGD PMID:21595933 PMID:20529956 RGD:6770890, RGD:6771173 NCBI chr10:58,385,409...58,399,220
Ensembl chr10:58,385,345...58,399,220
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IEP RGD PMID:12614934 RGD:1580169 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TRIP10 thyroid hormone receptor interactor 10 IEP protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr19:6,739,680...6,751,530
Ensembl chr19:6,737,925...6,751,530
JBrowse link
G TUG1 taurine up-regulated 1 IEP up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr22:30,969,265...30,979,395
Ensembl chr22:30,969,245...30,979,395
JBrowse link
G UCP1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:20561979 PMID:17055784 RGD:10045649, RGD:10045650 NCBI chr 4:140,555,770...140,568,961
Ensembl chr 4:140,559,431...140,568,961
JBrowse link
G UCP2 uncoupling protein 2 IEP mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr11:73,974,671...73,983,202
Ensembl chr11:73,974,672...73,982,843
JBrowse link
G XPO5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISS OMIM:143100 MouseDO NCBI chr11:19,117,099...19,176,420
Ensembl chr11:19,117,099...19,176,422
JBrowse link
G ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 ISS OMIM:143100 MouseDO NCBI chr12:76,764,115...76,853,701
Ensembl chr12:76,764,103...76,853,696
JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRNP prion protein IAGP ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar
OMIM
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PANK2 pantothenate kinase 2 IAGP ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration ClinVar
OMIM
PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 More... NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,752,620...42,768,786
Ensembl chr 8:42,752,620...42,796,392
JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,697,366...42,737,407
Ensembl chr 8:42,697,366...42,737,407
JBrowse link
G DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
JBrowse link
G FNTA farnesyltransferase, CAAX box, alpha IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788
JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535
JBrowse link
G PDGFB platelet derived growth factor subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23913003 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRB platelet derived growth factor receptor beta EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,849,637...42,897,294
Ensembl chr 8:42,849,637...42,897,290
JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP
EXP
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:22327515 PMID:23334463 PMID:25178512 PMID:25741868 PMID:26076356 More... NCBI chr 8:42,416,475...42,542,143
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
G SMIM19 small integral membrane protein 19 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,541,148...42,555,195
Ensembl chr 8:42,541,155...42,555,195
JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRB platelet derived growth factor receptor beta IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 ClinVar
OMIM
PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25158255 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFB platelet derived growth factor subunit B IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 5 ClinVar
OMIM
PMID:21409505 PMID:23913003 PMID:25741868 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 ClinVar
OMIM
PMID:886353 PMID:25741868 PMID:25938945 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279
JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYORG myogenesis regulating glycosidase (putative) IAGP ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chr 9:34,366,149...34,376,952
Ensembl chr 9:34,366,666...34,376,898
JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAM2 junctional adhesion molecule 2 IAGP ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:26136916 PMID:31851307 PMID:32142645 NCBI chr21:25,607,550...25,717,562
Ensembl chr21:25,639,258...25,717,562
JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ISG15 ISG15 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification ClinVar
OMIM
PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:28492532 NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 OMIM
ClinVar
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar
OMIM
PMID:9536098 PMID:11891683 PMID:17576681 PMID:23455423 PMID:25741868 More... NCBI chr 7:26,189,920...26,200,775
Ensembl chr 7:26,171,151...26,201,529
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 ClinVar
OMIM
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGF epidermal growth factor IEP protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP
EXP
DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23455423 RGD:10395280 NCBI chr 7:26,189,920...26,200,775
Ensembl chr 7:26,171,151...26,201,529
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCP valosin containing protein EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
CTD
ClinVar
PMID:16247064 PMID:25492614 PMID:25884947 PMID:26467025 PMID:28492532 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
Kufor-Rakeb syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 IAGP
EXP
ClinVar Annotator: match by term: Parkinson disease 9
ClinVar Annotator: match by term: Kufor-Rakeb syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:495089 PMID:9536098 PMID:12169656 PMID:16199547 PMID:16964263 More... NCBI chr 1:16,985,958...17,011,972
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
late onset Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP OMIM NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746
JBrowse link
G ATXN2 ataxin 2 IAGP OMIM NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP OMIM NCBI chr13:70,107,213...70,139,753
Ensembl chr13:70,107,213...70,171,738
JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP ClinVar Annotator: match by term: Hereditary late onset Parkinson disease ClinVar NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439
JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:24218364 PMID:25118025 PMID:27270108 NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032
JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506
JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP ClinVar Annotator: match by term: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO ClinVar
OMIM
PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358
JBrowse link
G FGF20 fibroblast growth factor 20 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:18252210 PMID:19133659 NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345
JBrowse link
G GBA glucosylceramidase beta IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar Annotator: match by term: PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
ClinVar
OMIM
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 More... NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GLUD2 glutamate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar
OMIM
PMID:19826450 NCBI chr  X:121,047,610...121,050,094
Ensembl chr  X:121,047,610...121,050,094
JBrowse link
G GPR33 G protein-coupled receptor 33 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP DNA:polymorphism:exon:A>G313 (human) RGD PMID:17250723 RGD:5148021 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HEATR5A HEAT repeat containing 5A IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550
JBrowse link
G HEATR5A-DT HEATR5A divergent transcript IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,420,758...31,452,883
Ensembl chr14:31,420,286...31,452,883
JBrowse link
G HLA-DRA major histocompatibility complex, class II, DR alpha IAGP DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar Annotator: match by term: PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
ClinVar PMID:1348297 PMID:1558964 PMID:1704891 PMID:1864608 PMID:1897529 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar PMID:7898705 PMID:15541309 PMID:15680455 PMID:15680456 PMID:15680457 More... NCBI chr12:40,224,890...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MAPT microtubule associated protein tau IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr17:45,894,538...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MGC32805 uncharacterized LOC153163 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:12761037 PMID:18366718 PMID:28492532 NCBI chr 5:122,436,497...122,479,087
Ensembl chr 5:122,436,497...122,479,087
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:7624338 PMID:15972314 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP
EXP
ClinVar Annotator: match by term: Parkinson disease, late-onset
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 More... NCBI chr 2:156,324,432...156,332,724
Ensembl chr 2:156,324,437...156,342,348
JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,561,399...31,861,293
Ensembl chr14:31,489,956...31,861,224
JBrowse link
G NUBPL-DT NUBPL divergent transcript IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,553,355...31,561,331 JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G PINK1 PTEN induced kinase 1 IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
JBrowse link
G PINK1-AS PINK1 antisense RNA IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 1:20,642,657...20,652,193
Ensembl chr 1:20,642,657...20,652,193
JBrowse link
G PODXL podocalyxin like IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:26864383 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217
JBrowse link
G PSAP prosaposin susceptibility IAGP ClinVar Annotator: match by term: Hereditary late onset Parkinson disease
ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
ClinVar
OMIM
PMID:32201884 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G SNCAIP synuclein alpha interacting protein EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset
CTD
ClinVar
PMID:12761037 PMID:18366718 PMID:28492532 NCBI chr 5:122,311,354...122,464,219
Ensembl chr 5:122,311,354...122,464,219
JBrowse link
G TBP TATA-box binding protein IAGP OMIM NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
JBrowse link
G VPS35 VPS35 retromer complex component IAGP ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr16:46,656,132...46,689,194
Ensembl chr16:46,656,132...46,689,518
JBrowse link
Lewy body dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AIF1 allograft inflammatory factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 6:31,615,212...31,617,015
Ensembl chr 6:31,615,217...31,617,021
JBrowse link
G ANXA5 annexin A5 IEP protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chr 4:121,667,946...121,696,994
Ensembl chr 4:121,667,946...121,696,995
JBrowse link
G APOE apolipoprotein E IEP protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G BECN1 beclin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IEP RGD PMID:14595653 RGD:5688166 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IEP RGD PMID:15465084 RGD:1358509 NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IEP RGD PMID:15465084 RGD:1358509 NCBI chr15:32,030,462...32,173,018
Ensembl chr15:31,923,438...32,173,018
JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G ELK1 ETS transcription factor ELK1 IEP RGD PMID:20126313 RGD:7488914 NCBI chr  X:47,635,520...47,650,604
Ensembl chr  X:47,635,521...47,650,604
JBrowse link
G ENO2 enolase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
JBrowse link
G GBA glucosylceramidase beta IAGP
EXP
DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Lewy body dementia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse Lewy body disease
ClinVar Annotator: match by term: Lewy Body Disease
DNA:missense mutations, frameshift mutation:cds:multiple (human)
ClinVar
CTD
OMIM
RGD
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 More... RGD:5508424, RGD:12791014 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:44,903,159...44,915,552
Ensembl chr17:44,903,159...44,916,937
JBrowse link
G GPR37 G protein-coupled receptor 37 IEP RGD PMID:14991825 RGD:13504666 NCBI chr 7:124,743,885...124,765,792
Ensembl chr 7:124,743,885...124,765,792
JBrowse link
G IGF1R insulin like growth factor 1 receptor IEP
EXP
IDA
mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19276553 PMID:19276553 PMID:19276553 RGD:5129515, RGD:5129515 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IGF2 insulin like growth factor 2 IEP
EXP
mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IGF2R insulin like growth factor 2 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G INSR insulin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G KLK6 kallikrein related peptidase 6 IAGP RGD PMID:12928483 RGD:1358597 NCBI chr19:50,958,631...50,969,598
Ensembl chr19:50,958,631...50,969,673
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Diffuse Lewy body disease
ClinVar Annotator: match by term: Lewy body dementia
ClinVar PMID:1348297 PMID:1704891 PMID:1897529 PMID:1899336 PMID:1971142 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G MAG myelin associated glycoprotein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
JBrowse link
G MAP2 microtubule associated protein 2 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30236862 PMID:20024519 RGD:6483091 NCBI chr 2:209,424,047...209,734,118
Ensembl chr 2:209,424,047...209,734,118
JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889, RGD:127285384 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G NGF nerve growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:115,285,915...115,338,253
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NGFR nerve growth factor receptor IEP protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NOS2 nitric oxide synthase 2 IDA RGD PMID:10674474 RGD:1358529 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,640...156,881,850
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 9:84,668,458...85,027,070
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G PCNA proliferating cell nuclear antigen IEP protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: RGD PMID:20665591 RGD:10448971 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IEP RGD PMID:17467279 RGD:10412737 NCBI chr 6:161,347,417...162,727,802
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G SEPTIN4 septin 4 IEP RGD PMID:12695511 RGD:13504670 NCBI chr17:58,520,255...58,544,372
Ensembl chr17:58,520,250...58,544,368
JBrowse link
G SNCA synuclein alpha IAGP
IEP
EXP
IMP
ClinVar Annotator: match by term: Lewy body dementia
ClinVar Annotator: match by term: Lewy Body Disease
protein:decreased expression:cerebral spinal fluid:
CTD Direct Evidence: marker/mechanism
protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid
ClinVar
CTD
OMIM
RGD
PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... RGD:6478704, RGD:13506723, RGD:6480103, RGD:6480095, RGD:6478792 NCBI chr 4:89,724,099...89,838,324
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SNCB synuclein beta IAGP
IEP
IMP
DNA:mutations:cds:p.V70M, P123H (human)
ClinVar Annotator: match by term: Lewy body dementia
protein:increased expression:hippocampus
OMIM
ClinVar
RGD
PMID:15365127 PMID:15365127 PMID:10557341 PMID:15483670 RGD:6219004, RGD:6480095, RGD:6478800 NCBI chr 5:176,620,082...176,630,556
Ensembl chr 5:176,620,082...176,630,556
JBrowse link
G SNCG synuclein gamma IAGP
IEP
protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid
RGD PMID:20697047 PMID:10557341 PMID:18577885 RGD:6478704, RGD:6480095, RGD:6478792 NCBI chr10:86,955,759...86,963,260
Ensembl chr10:86,958,599...86,963,258
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TARDBP TAR DNA binding protein IEP RGD PMID:20669025 RGD:5687180 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
JBrowse link
G TH tyrosine hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr11:2,163,929...2,174,081
Ensembl chr11:2,163,929...2,171,815
JBrowse link
MPTP Poisoning term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17A interleukin 17A EXP CTD Direct Evidence: marker/mechanism CTD PMID:31351185 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G INS insulin EXP CTD Direct Evidence: therapeutic CTD PMID:26364587 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
multiple system atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMBRA1 autophagy and beclin 1 regulator 1 IEP protein:increased expression:brain RGD PMID:27875637 RGD:14390070 NCBI chr11:46,396,412...46,594,055
Ensembl chr11:46,396,414...46,594,125
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple system atrophy
CTD
ClinVar
PMID:17420317 PMID:23758206 PMID:24988567 PMID:24988568 PMID:24988569 More... NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G IGF2 insulin like growth factor 2 severity IEP RGD PMID:20683839 RGD:5509960 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G KLK6 kallikrein related peptidase 6 IAGP RGD PMID:12928483 RGD:1358597 NCBI chr19:50,958,631...50,969,598
Ensembl chr19:50,958,631...50,969,673
JBrowse link
G LOC112997540 Sharpr-MPRA regulatory region 13773 IAGP ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr 4:83,284,636...83,284,930 JBrowse link
G MAPT microtubule associated protein tau IAGP ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr17:45,894,538...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MIR96 microRNA 96 ISO
IEP
RNA:increased expression:frontal cortex: RGD PMID:24304186 PMID:24304186 RGD:11553929, RGD:11553929<