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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.


show annotations for term's descendants           Sort by:
 
basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16000684 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11198054, PMID:12211096, PMID:18480698, PMID:19225277, PMID:19506579 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19506579 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human) RGD PMID:11438811 RGD:5509839 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18480698 NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
JBrowse link
G Micu1 mitochondrial calcium uptake 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chr20:29,284,833...29,433,617
Ensembl chr20:29,284,853...29,432,258
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7214106 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19387023 NCBI chr 9:88,762,775...88,828,553
Ensembl chr 9:88,764,073...88,816,898
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
DNA:mutations:exons:
CTD
ClinVar
PMID:9889202, PMID:12916015, PMID:15146470, PMID:16536805, PMID:19060901, PMID:20301648, PMID:22129056, PMID:23001123, PMID:23621630, PMID:24033266, PMID:24183309, PMID:24262145, PMID:24950769, PMID:25456137, PMID:25604658, PMID:25741868, PMID:26629815, PMID:26802932, PMID:28395385, PMID:28492532, PMID:29221912, PMID:23001123 RGD:11069491 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar PMID:23602593, PMID:24033266, PMID:24183309, PMID:25582466, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686847 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO
ISS
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 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO 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, PMID:19015152, PMID:19034401, PMID:19694776, PMID:20131292, PMID:21177854, PMID:22149989, PMID:24033266, PMID:25243380, PMID:25274781, PMID:25343331, PMID:25604658, PMID:25741868, PMID:26182405, PMID:26467025, PMID:26846091, PMID:26903602, PMID:27009121, PMID:28492532, PMID:28762473, PMID:30311386 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO
ISS
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:28492532 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO 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, PMID:22973040, PMID:23364794, PMID:24033266, PMID:25604658, PMID:25741868, PMID:27604406, PMID:28229507, PMID:28492532, PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by OMIM:225750
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845398, PMID:23602593, PMID:24033266, PMID:24183309, PMID:25582466, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar PMID:16845398, PMID:16960810, PMID:17293595, PMID:17357087, PMID:17440703, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:20799324, PMID:20871604, PMID:21270825, PMID:21808053, PMID:21937424, PMID:22829693, PMID:23602593, PMID:23881107, PMID:23989343, PMID:24033266, PMID:24088041, PMID:24183309, PMID:24224166, PMID:24300241, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25848017, PMID:25906927, PMID:26150267, PMID:26182405, PMID:26467025, PMID:26633542, PMID:26633545, PMID:26691497, PMID:26938784, PMID:27391121, PMID:28089741, PMID:28492532, PMID:28750028, PMID:29239743, PMID:29387804, PMID:30219631 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar
OMIM
PMID:16845398, PMID:16960810, PMID:17293595, PMID:17357087, PMID:17440703, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:20799324, PMID:20871604, PMID:21270825, PMID:21808053, PMID:21937424, PMID:22829693, PMID:23602593, PMID:23881107, PMID:23989343, PMID:24033266, PMID:24088041, PMID:24183309, PMID:24224166, PMID:24300241, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25848017, PMID:25906927, PMID:26150267, PMID:26182405, PMID:26467025, PMID:26633542, PMID:26633545, PMID:26691497, PMID:26938784, PMID:27391121, PMID:28089741, PMID:28492532, PMID:28750028, PMID:29239743, PMID:29387804, PMID:30219631 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
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 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 ClinVar
OMIM
PMID:16845400, PMID:17846997, PMID:18069026, PMID:18414213, PMID:18754903, PMID:19015152, PMID:19034401, PMID:19694776, PMID:20131292, PMID:21177854, PMID:22149989, PMID:24033266, PMID:24183309, PMID:25243380, PMID:25274781, PMID:25343331, PMID:25500883, PMID:25604658, PMID:25741868, PMID:26182405, PMID:26467025, PMID:26846091, PMID:26903602, PMID:27009121, PMID:28492532, PMID:28762473, PMID:30311386 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
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 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3
ClinVar Annotator: match by OMIM:610329
OMIM
ClinVar
PMID:16845400, PMID:17846997, PMID:20131292, PMID:23322642, PMID:25500883, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29150899 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4
ClinVar Annotator: match by OMIM:610333
OMIM
ClinVar
PMID:15870678, PMID:16845400, PMID:17846997, PMID:20131292, PMID:21454563, PMID:23592335, PMID:24033266, PMID:24183309, PMID:24300241, PMID:25500883, PMID:25604658, PMID:25741868, PMID:26467025, PMID:27943079, PMID:28492532 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
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 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612952
OMIM
ClinVar
CTD
PMID:19525956, PMID:20358604, PMID:20653736, PMID:20842748, PMID:21102625, PMID:21204240, PMID:21402907, PMID:22174685, PMID:22461318, PMID:22691373, PMID:22973040, PMID:24033266, PMID:24035396, PMID:24183309, PMID:24316776, PMID:25604658, PMID:25741868, PMID:26467025, PMID:27604406, PMID:28229507, PMID:28492532, PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 6
ClinVar Annotator: match by OMIM:615010
OMIM
ClinVar
PMID:9889202, PMID:12916015, PMID:15146470, PMID:15955093, PMID:16536805, PMID:16817193, PMID:19017046, PMID:19060901, PMID:20301648, PMID:22129056, PMID:23001123, PMID:23621630, PMID:24033266, PMID:24183309, PMID:24262145, PMID:24950769, PMID:25243380, PMID:25326637, PMID:25456137, PMID:25604658, PMID:25741868, PMID:26372505, PMID:26629815, PMID:26802932, PMID:27937139, PMID:28395385, PMID:28492532, PMID:28561207, PMID:29221912, PMID:30311386 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
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 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
ClinVar Annotator: match by OMIM:615846
OMIM
ClinVar
PMID:21070929, PMID:24686847, PMID:24995871, PMID:25243380, PMID:25620204, PMID:25741868, PMID:26284909, PMID:28319323, PMID:28492532, PMID:28605144, PMID:29782060, PMID:30219631, PMID:30311386, PMID:30593198, PMID:30965144, PMID:31898846 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:6876115, PMID:17710875, PMID:18049083, PMID:18175354, PMID:18414213, PMID:19026396, PMID:20507343, PMID:21044051, PMID:24015686, PMID:24088041, PMID:25326637, PMID:25741868, PMID:26612766, PMID:26633545, PMID:26664771, PMID:28492532, PMID:29546359 NCBI chr 3:57,646,799...57,678,802
Ensembl chr 3:57,646,811...57,673,418
JBrowse link
G Mettl8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:17710875, PMID:19026396, PMID:26612766, PMID:28492532 NCBI chr 3:57,257,394...57,642,096 JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:613954
OMIM
ClinVar
PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25618255, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:27209344, PMID:27226613, PMID:27768726, PMID:27790088, PMID:28130640, PMID:28360103, PMID:28430856, PMID:28492532, PMID:28692196, PMID:29754758, PMID:29899994 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:300857
OMIM
ClinVar
PMID:21857683, PMID:24771548, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
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 ISO ClinVar Annotator: match by OMIM:616208 OMIM
ClinVar
PMID:25374358 NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
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 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:608030
OMIM
ClinVar
PMID:12840784, PMID:12858291, PMID:19251627, PMID:19251628, PMID:19450904, PMID:19741215, PMID:19861302, PMID:20018407, PMID:20124201, PMID:20138404, PMID:20142531, PMID:20385912, PMID:20544928, PMID:20577002, PMID:20579074, PMID:20606625, PMID:20660363, PMID:20668259, PMID:20668261, PMID:20699327, PMID:21158017, PMID:21261515, PMID:21280085, PMID:21604077, PMID:21881207, PMID:21907581, PMID:21943958, PMID:21949354, PMID:22055719, PMID:22292843, PMID:22340366, PMID:22645277, PMID:22722621, PMID:22863194, PMID:22980027, PMID:23046859, PMID:23056579, PMID:23085990, PMID:23577159, PMID:23731953, PMID:23834483, PMID:23881933, PMID:24033266, PMID:24080306, PMID:24204307, PMID:24262168, PMID:24280224, PMID:24439481, PMID:24899262, PMID:24908169, PMID:25173930, PMID:25274782, PMID:25289647, PMID:25324524, PMID:25382069, PMID:25457557, PMID:25585530, PMID:25625564, PMID:25631824, PMID:25741868, PMID:26251528, PMID:26452761, PMID:26467025, PMID:26601740, PMID:26725112, PMID:26795035, PMID:27123482, PMID:28273913, PMID:28492532, PMID:28642336, PMID:30279455, PMID:30349096, PMID:30879340, PMID:19251628 RGD:9685712 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
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 ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
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 ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2502917, PMID:2508065, PMID:2569551, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8790604, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9554746, PMID:10079102, PMID:10636167, PMID:10649495, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12838552, PMID:14757438, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17395504, PMID:17427031, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20947659, PMID:20980259, PMID:21257328, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22451204, PMID:22592100, PMID:22968580, PMID:23430873, PMID:23588557, PMID:23676350, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25456120, PMID:25653295, PMID:25741868, PMID:25946768, PMID:26096741, PMID:26117366, PMID:26868973, PMID:26905200, PMID:27312774, PMID:27682613, PMID:27717005, PMID:28492532, PMID:28779532, PMID:28923368, PMID:29527153, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:9197268, PMID:9499430, PMID:9506559, PMID:9827625, PMID:10417297, PMID:11261505, PMID:14593171, PMID:14755720, PMID:15451224, PMID:15451225, PMID:16358335, PMID:17251522, PMID:17489854, PMID:17625105, PMID:18195271, PMID:18704525, PMID:18852445, PMID:18852448, PMID:18852449, PMID:19632874, PMID:20340137, PMID:28492532 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
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 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655, PMID:14520668, PMID:14595656, PMID:14684687, PMID:15576045, PMID:16337195 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
biotin-responsive basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a3 solute carrier family 19 member 3 ISO 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
ClinVar Annotator: match by term: Basal ganglia disease, biotin-responsive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:607483
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:15871139, PMID:16790503, PMID:19387023, PMID:20065143, PMID:22777947, PMID:23423671, PMID:23482991, PMID:23589815, PMID:23742248, PMID:24166474, PMID:24667528, PMID:24957181, PMID:25741868, PMID:26443248, PMID:26467025, PMID:26657515, PMID:26863430, PMID:26938784, PMID:27290639, PMID:27749535, PMID:27896110, PMID:28492532, PMID:28832562, PMID:29101630, PMID:29236641, PMID:29453417, PMID:30311386 NCBI chr 9:88,762,775...88,828,553
Ensembl chr 9:88,764,073...88,816,898
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 ISO ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked
ClinVar Annotator: match by OMIM:600795
ClinVar
OMIM
PMID:16041373, PMID:16431024, PMID:16807408, PMID:16941655, PMID:17956895, PMID:20352044, PMID:20592581, PMID:20625756, PMID:21222599, PMID:22521643, PMID:22527221, PMID:23155438, PMID:25741868, PMID:26467025, PMID:26777436, PMID:26836416, PMID:28430856, PMID:28492532, PMID:29431110, PMID:29486463, PMID:29525180 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked ClinVar NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:107,664,321...107,759,974
Ensembl chr14:107,664,255...107,760,191
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Dystonia Musculorum Deformans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:30311386 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:30311386 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:10984309, PMID:25741868, PMID:30311386 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Torsion dystonia ClinVar PMID:30311386 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Tor1a torsin family 1, member A TAS RGD PMID:12671990 RGD:634735 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
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 ISO ClinVar Annotator: match by term: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
ClinVar
OMIM
PMID:25741868, PMID:27817865, PMID:32313153 NCBI chr 5:150,001,281...150,027,407
Ensembl chr 5:150,001,281...150,027,049
JBrowse link
frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:30311386 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
JBrowse link
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
JBrowse link
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:30311386 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:1353340, PMID:10477432, PMID:12809637, PMID:16678723, PMID:18693274, PMID:18786133, PMID:23559313, PMID:25741868, PMID:25965562, PMID:26462614, PMID:28492532 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Bace2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr11:37,798,397...37,880,624
Ensembl chr11:37,798,370...37,880,821
JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO DNA:mutations:cds
ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
PMID:16041373, PMID:26467025, PMID:28492532, PMID:16041373, PMID:16979267, PMID:19202337 RGD:5688398, RGD:5688721, RGD:5688716 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Grn granulin precursor ISO DNA:mutations, haploinsufficiency: :
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
PMID:16862116, PMID:16950801, PMID:18234697, PMID:18723524, PMID:19158106, PMID:19683260, PMID:20045477, PMID:20142524, PMID:21403024, PMID:21454553, PMID:22028881, PMID:22491866, PMID:23463024, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30279455, PMID:16862116, PMID:18855025, PMID:19012866, PMID:16983685, PMID:21933710 RGD:5509588, RGD:5509612, RGD:5509609, RGD:5509602, RGD:5509589 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:30311386, PMID:17639429 RGD:5508418 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:missense mutations, splice site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction: IVS10+16C>T(human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:600274
DNA:haplotype
ClinVar
CTD
OMIM
PMID:1416801, PMID:7783864, PMID:7936288, PMID:7977375, PMID:8926492, PMID:8940276, PMID:9088499, PMID:9382467, PMID:9392579, PMID:9629852, PMID:9636220, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9811325, PMID:9824291, PMID:9836646, PMID:9973279, PMID:10076890, PMID:10100642, PMID:10100846, PMID:10202939, PMID:10208578, PMID:10214944, PMID:10218629, PMID:10219785, PMID:10318930, PMID:10329720, PMID:10359094, PMID:10360762, PMID:10374757, PMID:10412802, PMID:10443890, PMID:10446810, PMID:10489057, PMID:10514099, PMID:10553987, PMID:10561502, PMID:10624829, PMID:10627302, PMID:10767321, PMID:10797541, PMID:10802785, PMID:10820221, PMID:10821687, PMID:10822460, PMID:10865093, PMID:10932182, PMID:11013246, PMID:11071507, PMID:11081811, PMID:11102510, PMID:11115852, PMID:11117541, PMID:11117542, PMID:11117553, PMID:11159174, PMID:11255441, PMID:11278002, PMID:11402146, PMID:11456301, PMID:11598310, PMID:11641718, PMID:11708988, PMID:11738505, PMID:11756436, PMID:11756496, PMID:11889249, PMID:11891833, PMID:11912108, PMID:11921059, PMID:11971081, PMID:11971082, PMID:12325083, PMID:12368474, PMID:12473404, PMID:12473774, PMID:12509859, PMID:12565146, PMID:12615641, PMID:12722177, PMID:12756133, PMID:12796837, PMID:12847166, PMID:12876142, PMID:12975285, PMID:14517953, PMID:14568818, PMID:14755449, PMID:15178938, PMID:15178940, PMID:15365985, PMID:15372253, PMID:15376481, PMID:15489396, PMID:15883319, PMID:15904919, PMID:16219306, PMID:16240366, PMID:16495230, PMID:16495328, PMID:16571759, PMID:16818492, PMID:17071927, PMID:17715352, PMID:17923640, PMID:17950702, PMID:18284428, PMID:18357425, PMID:18525295, PMID:18587238, PMID:18803694, PMID:18854867, PMID:18992292, PMID:19091059, PMID:19304664, PMID:19365643, PMID:19458322, PMID:19498037, PMID:19659892, PMID:19766248, PMID:19786698, PMID:19884572, PMID:19914360, PMID:20045477, PMID:20130190, PMID:20377816, PMID:20561037, PMID:20598713, PMID:20634584, PMID:21176711, PMID:21339331, PMID:21343707, PMID:21344240, PMID:21492964, PMID:21555888, PMID:21849646, PMID:22022446, PMID:22127750, PMID:22169201, PMID:22312439, PMID:22556362, PMID:22595371, PMID:22723997, PMID:22787795, PMID:22818528, PMID:22906081, PMID:23043292, PMID:23047372, PMID:23053136, PMID:23105105, PMID:23338682, PMID:23383383, PMID:23518664, PMID:23659495, PMID:23680655, PMID:23692670, PMID:23727082, PMID:23881933, PMID:23885714, PMID:23990795, PMID:24018212, PMID:24081456, PMID:24150109, PMID:24218087, PMID:25004446, PMID:25151619, PMID:25319522, PMID:25466404, PMID:25592136, PMID:25604855, PMID:25671699, PMID:25683866, PMID:25741868, PMID:25937274, PMID:25942996, PMID:26028272, PMID:26136155, PMID:26143746, PMID:26200045, PMID:26220942, PMID:26269332, PMID:26295349, PMID:26333800, PMID:26373282, PMID:26426266, PMID:26467025, PMID:26519432, PMID:26601740, PMID:26931567, PMID:27082848, PMID:27094865, PMID:27439681, PMID:27594586, PMID:27606344, PMID:27975259, PMID:28097206, PMID:28130473, PMID:28334843, PMID:28462717, PMID:28492532, PMID:28923025, PMID:30279455, PMID:177121602, PMID:9641683, PMID:16407562, PMID:19766248, PMID:17386961 RGD:1302531, RGD:10412702, RGD:10412699, RGD:8158108 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Marchf4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr 9:79,781,752...79,898,726
Ensembl chr 9:79,782,845...79,898,912
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:24033266, PMID:28492532 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025, PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11094121, PMID:11895378, PMID:15776278, PMID:17431506, PMID:20332427, PMID:20634584, PMID:22475797, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30279455 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Tardbp TAR DNA binding protein ISO
ISS
ClinVar Annotator: match by term: Frontotemporal dementia
OMIM:600274 | OMIM:600795
ClinVar
MouseDO
PMID:19411082, PMID:20082726, PMID:20675015, PMID:20708823, PMID:22575358, PMID:24033266, PMID:26467025, PMID:28492532 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tm2d3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 1:126,573,474...126,595,778
Ensembl chr 1:126,586,543...126,595,603
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr10:56,458,650...56,475,183
Ensembl chr10:56,459,108...56,465,393
JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISS OMIM:600274 | OMIM:600795 MouseDO NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
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 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:34,598,324...34,739,986
Ensembl chr11:34,598,492...34,738,791
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 RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:26769963, PMID:28492532 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:11941481, PMID:11992264, PMID:12374763, PMID:15125799, PMID:15146436, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16691492, PMID:16813535, PMID:17129171, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:22491873, PMID:22972638, PMID:23303844, PMID:23417734, PMID:23447461, PMID:23612225, PMID:23812289, PMID:23820649, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24486447, PMID:24899140, PMID:25241215, PMID:25382069, PMID:25512523, PMID:25664955, PMID:25708934, PMID:25741868, PMID:25796131, PMID:25852467, PMID:26208961, PMID:26467025, PMID:26627873, PMID:26713335, PMID:26836416, PMID:27275741, PMID:27545679, PMID:27594680, PMID:28430856, PMID:28492532, PMID:28642336, PMID:29457785, PMID:29599744, PMID:29895397, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
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 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM
ClinVar
PMID:24934289, PMID:25113787, PMID:25155093, PMID:25193783, PMID:25261972, PMID:25348631, PMID:25576308, PMID:25681414, PMID:25741868, PMID:25833818, PMID:26152333, PMID:28492532, PMID:28585542, PMID:29112723, PMID:29121267, PMID:29315381, PMID:29789341, PMID:30014597 NCBI chr20:13,665,046...13,666,845
Ensembl chr20:13,665,031...13,667,333
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 ISO ClinVar Annotator: match by term: FTDALS3
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
ClinVar Annotator: match by OMIM:616437
OMIM
ClinVar
PMID:11992264, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16813535, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:23417734, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24486447, PMID:24899140, PMID:25241215, PMID:25741868, PMID:26627873, PMID:26713335, PMID:27275741, PMID:27594680, PMID:28430856, PMID:28492532, PMID:29457785, PMID:29599744, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
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 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM
PMID:25700176, PMID:25741868, PMID:25803835, PMID:25943890, PMID:26476236, PMID:26581300, PMID:28008748, PMID:28365590, PMID:28492532, PMID:28822984, PMID:30033073, PMID:30311386 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
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 ISO DNA:snps, haplotype:multiple (human) RGD PMID:15303240 RGD:11576298 NCBI chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115
JBrowse link
G Drd2 dopamine receptor D2 treatment IEP mRNA:increased expression:striatum (rat) RGD PMID:19467315, PMID:22876458 RGD:2311576, RGD:6907444 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10523822 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Drd4 dopamine receptor D4 susceptibility
no_association
ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:25258183, PMID:8725747 RGD:13209010, RGD:13210516 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO RGD PMID:22683190 RGD:9693691 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by OMIM:137580 OMIM
ClinVar
PMID:20445167, PMID:24411733 NCBI chr 3:119,057,524...119,075,599
Ensembl chr 3:119,057,517...119,075,619
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISS OMIM:137580 MouseDO NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISS OMIM:137580 MouseDO NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Tourette Syndrome
ClinVar Annotator: match by OMIM:137580
OMIM
ClinVar
PMID:17003809, PMID:17035247, PMID:18413575, PMID:19018236, PMID:20351724, PMID:22942103, PMID:23528612, PMID:23835198, PMID:23990902, PMID:27812321, PMID:28492532 NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Tourette Syndrome ClinVar NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO RGD PMID:8873217 RGD:1358595 NCBI chr 2:180,897,059...180,914,919
Ensembl chr 2:180,897,011...180,914,940
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 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,217,979...90,224,984
Ensembl chr10:90,217,924...90,226,537
JBrowse link
G Atxn7l3 ataxin 7-like 3 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,234,749...90,241,757
Ensembl chr10:90,236,928...90,240,509
JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive
ClinVar Annotator: match by OMIM:607485
ClinVar
OMIM
PMID:6497355, PMID:9152110, PMID:9259373, PMID:9633693, PMID:12476321, PMID:16401619, PMID:16495329, PMID:16862115, PMID:16862116, PMID:16950801, PMID:16983677, PMID:16983685, PMID:17071927, PMID:17202431, PMID:17210807, PMID:17228326, PMID:17334266, PMID:17345602, PMID:17371905, PMID:17436289, PMID:17439980, PMID:17522386, PMID:17620546, PMID:17698705, PMID:17826340, PMID:17923627, PMID:17949857, PMID:17984093, PMID:18183624, PMID:18184915, PMID:18192287, PMID:18223198, PMID:18234697, PMID:18245784, PMID:18314228, PMID:18322394, PMID:18392865, PMID:18413474, PMID:18464284, PMID:18543312, PMID:18551524, PMID:18565828, PMID:18703462, PMID:18723524, PMID:18752597, PMID:18838661, PMID:18855025, PMID:19012866, PMID:19158106, PMID:19288468, PMID:19632744, PMID:19649643, PMID:19683260, PMID:19766663, PMID:19858458, PMID:19884572, PMID:20020531, PMID:20028451, PMID:20045477, PMID:20087814, PMID:20142524, PMID:20142525, PMID:20301545, PMID:20522652, PMID:21403024, PMID:21454553, PMID:21482928, PMID:21569259, PMID:21800185, PMID:22312439, PMID:22366795, PMID:22491866, PMID:22608501, PMID:22647257, PMID:22781549, PMID:22906081, PMID:22995991, PMID:23338682, PMID:23463024, PMID:23624518, PMID:23684369, PMID:23724906, PMID:23742080, PMID:23759146, PMID:23813535, PMID:23990795, PMID:24022032, PMID:24503614, PMID:24703252, PMID:25104557, PMID:25741868, PMID:26075876, PMID:26159191, PMID:26467025, PMID:26652843, PMID:26791154, PMID:26811050, PMID:27082848, PMID:27258413, PMID:27311648, PMID:27341800, PMID:27632209, PMID:27790088, PMID:27884173, PMID:27997711, PMID:28000352, PMID:28264768, PMID:28473694, PMID:28492532, PMID:29339765, PMID:30279455, PMID:19649643 RGD:5509604 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Hdac5 histone deacetylase 5 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,192,608...90,214,486
Ensembl chr10:90,192,627...90,214,486
JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,105,562...90,127,600
Ensembl chr10:90,105,562...90,127,600
JBrowse link
G Rundc3a RUN domain containing 3A ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,342,033...90,351,172
Ensembl chr10:90,342,051...90,351,170
JBrowse link
G Slc25a39 solute carrier family 25, member 39 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,351,899...90,356,905
Ensembl chr10:90,351,900...90,356,242
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Tardbp TAR DNA binding protein ISS OMIM:607485 MouseDO NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tmub2 transmembrane and ubiquitin-like domain containing 2 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,230,428...90,234,874
Ensembl chr10:90,230,441...90,234,873
JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
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 IMP
ISO
RGD PMID:152600, PMID:6237280 RGD:10047058, RGD:10046047 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
JBrowse link
G Atrx ATRX, chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr 5:57,254,421...57,267,002
Ensembl chr 5:57,254,421...57,267,002
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:11299004, PMID:18938217 RGD:10054041, RGD:10054048 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:11299004 RGD:10054041 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:18093249, PMID:17885687, PMID:19499586 RGD:10058981, RGD:10415531, RGD:10059353 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:10888929, PMID:15668790 RGD:13432082, RGD:10413886 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:
RGD PMID:12095160, PMID:12095160 RGD:13432083, RGD:13432083 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cat catalase IEP protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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 chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Cib1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO
IDA
RGD PMID:19115380, PMID:19115380 RGD:2316196, RGD:2316196 NCBI chr 5:154,242,010...154,268,126
Ensembl chr 5:154,260,062...154,268,126
JBrowse link
G Cntf ciliary neurotrophic factor treatment IDA
ISO
human gene in a cynomolgus monkey model RGD PMID:12040055, PMID:9121555 RGD:628474, RGD:734795 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO
IEP
protein:decreased phosphorylation:neuron: RGD PMID:11967539, PMID:16420411 RGD:734817, RGD:10059577 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Crebbp CREB binding protein treatment
disease_progression
ISO protein:altered localization:nucleus RGD PMID:19291221, PMID:20448484, PMID:11264541 RGD:10059583, RGD:13432094, RGD:13432093 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Cycs cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr12:38,490,230...38,503,344
Ensembl chr12:38,490,230...38,503,330
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 chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 4:100,936,834...101,157,511
Ensembl chr 4:100,936,978...101,156,576
JBrowse link
G Drd1 dopamine receptor D1 IEP
ISS
ISO
OMIM:143100
protein:decreased expression:cerebral cortex (mouse)
MouseDO PMID:18815258, PMID:16905556, PMID:12111832 RGD:2302117, RGD:7248682, RGD:5686414 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832, PMID:16905556 RGD:5686414, RGD:7248682 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IMP RGD PMID:23392662 RGD:7771544 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 1:47,206,892...47,213,785
Ensembl chr 1:47,206,895...47,213,749
JBrowse link
G E2f1 E2F transcription factor 1 IEP protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:11468270, PMID:15567511 RGD:10395345, RGD:10395348 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,287,875...1,304,822
Ensembl chr  X:1,297,099...1,304,822
JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:134,852,899...134,872,095
Ensembl chr 5:134,852,875...134,871,775
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:16405510, PMID:16405510 RGD:11560524, RGD:11560524 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr10:62,656,000...62,664,467
Ensembl chr10:62,656,000...62,664,466
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:6237280, PMID:3159462 RGD:10046047, RGD:13524508 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gpx6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr17:45,439,268...45,446,952
Ensembl chr17:45,439,268...45,446,907
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human)
RGD PMID:17409241, PMID:15742215, PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B onset ISO 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 chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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 chr 1:151,207,846...151,785,038
Ensembl chr 1:151,439,409...151,783,392
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:11490092 RGD:10401927 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 6:7,045,145...7,059,227
Ensembl chr 6:7,045,152...7,058,314
JBrowse link
G Hap1 huntingtin-associated protein 1 onset
no_association
ISO DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)
DNA:SNP:multiple
RGD PMID:18192679, PMID:24324398, PMID:26000918, PMID:20512606, PMID:22402331, PMID:22698993, PMID:18192679 RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 NCBI chr10:88,257,975...88,266,210
Ensembl chr10:88,257,976...88,266,210
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 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
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 chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr 7:139,280,396...139,319,108
Ensembl chr 7:139,281,187...139,318,455
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment 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 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Htt huntingtin onset
treatment
ISO
IMP
CTD Direct Evidence: marker/mechanism
DNA:repeats:cds:CAG(human)
mRNA:altered expression:cortex, striatum:
CTD
OMIM
PMID:15218539, PMID:15312898, PMID:16137562, PMID:17018277, PMID:17925440, PMID:18831068, PMID:19094060, PMID:19476553, PMID:20929960, PMID:21867705, PMID:28111121, PMID:8898202, PMID:12620967, PMID:21163446, PMID:26938440, PMID:8242074, PMID:17940007, PMID:25062733, PMID:22731249 RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 NCBI chr14:81,105,139...81,254,637
Ensembl chr14:81,105,139...81,254,637
JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr11:53,664,638...53,731,779
Ensembl chr11:53,664,638...53,731,779
JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:23384443, PMID:15371744, PMID:25140802 RGD:10045865, RGD:12904970, RGD:10045870 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 8:117,574,136...117,599,849
Ensembl chr 8:117,574,161...117,599,848
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO
IEP
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 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lep leptin IEP protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 onset
treatment
ISO 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 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mir132 microRNA 132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:62,014,995...62,015,095
Ensembl chr10:62,014,995...62,015,095
JBrowse link
G Mir22 microRNA 22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
JBrowse link
G Mir222 microRNA 222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:3,683,919...3,684,021
Ensembl chr  X:3,683,919...3,684,021
JBrowse link
G Mir448 microRNA 448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:118,277,684...118,277,795
Ensembl chr  X:118,277,684...118,277,795
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II severity ISO RGD PMID:20660112 RGD:13506651 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IMP RGD PMID:20480544 RGD:5687693 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mtnr1a melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366, PMID:21994366 RGD:9686058, RGD:9686058 NCBI chr16:50,339,358...50,358,809
Ensembl chr16:50,339,358...50,358,809
JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 4:9,965,323...10,004,650
Ensembl chr 4:9,966,891...10,002,247
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 IEP mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npy neuropeptide Y onset
no_association
ISO
IEP
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 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Nrf1 nuclear respiratory factor 1 onset ISO mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human)
RGD PMID:20529956, PMID:21595933 RGD:6771173, RGD:6770890 NCBI chr 4:57,335,732...57,445,317
Ensembl chr 4:57,378,069...57,445,341
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr11:36,851,035...36,912,272
Ensembl chr11:36,851,038...36,912,229
JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 1:222,207,887...222,224,993
Ensembl chr 1:222,209,575...222,224,910
JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr10:56,339,277...56,364,888
Ensembl chr10:56,339,284...56,365,084
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISS OMIM:143100 MouseDO NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset
severity
no_association
treatment
ISO
IEP
IDA
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, PMID:24383721, PMID:21595933, PMID:19133136, PMID:21493629, PMID:17018277, PMID:20736066, PMID:17018277, PMID:17018277, PMID:21651979 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 chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:18502785 RGD:13515080 NCBI chr10:86,303,727...86,312,770
Ensembl chr10:86,303,727...86,312,762
JBrowse link
G Ppp1r9a protein phosphatase 1, regulatory subunit 9A ISO mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus
RGD PMID:20089533, PMID:20089533 RGD:10043799, RGD:10043799 NCBI chr 4:29,976,485...30,247,371
Ensembl chr 4:29,978,739...30,241,911
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO protein:increased phosphorylation, altered localization:nucleus
protein:altered localization:nucleus
RGD PMID:21768291, PMID:21768291 RGD:6484534, RGD:6484534 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:21362433 RGD:5508227 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Qprt quinolinate phosphoribosyltransferase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 1:198,544,262...198,559,556
Ensembl chr 1:198,544,262...198,559,568
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159 NCBI chr 2:196,495,867...196,527,412
Ensembl chr 2:196,495,867...196,527,127
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Sirt1 sirtuin 1 ISO 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 chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:brain, spinal cord RGD PMID:16987871 RGD:5686805 NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675, PMID:17409241 RGD:13432194, RGD:13432195 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
JBrowse link
G Syne3 spectrin repeat containing, nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:128,639,036...128,716,061
Ensembl chr 6:128,641,214...128,727,374
JBrowse link
G Tbp TATA box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:21595933, PMID:20529956 RGD:6770890, RGD:6771173 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 9:9,689,214...9,702,353
Ensembl chr 9:9,689,475...9,702,306
JBrowse link
G Tug1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:83,878,757...83,885,791
Ensembl chr14:83,878,295...83,887,584
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 chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISS OMIM:143100 MouseDO NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044
JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISS OMIM:143100 MouseDO NCBI chr 7:53,651,529...53,715,007
Ensembl chr 7:53,653,116...53,714,879
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 ISO ClinVar Annotator: match by term: Huntington disease-like 1 OMIM
ClinVar
PMID:1351274, PMID:1353341, PMID:1357663, PMID:1363809, PMID:1363810, PMID:1404799, PMID:1439789, PMID:1469441, PMID:1671440, PMID:1672296, PMID:1674033, PMID:1677164, PMID:1682813, PMID:1684089, PMID:1684755, PMID:1684758, PMID:1798423, PMID:1971924, PMID:1975028, PMID:2180366, PMID:2190844, PMID:2253724, PMID:2378641, PMID:2564168, PMID:2572450, PMID:2783132, PMID:2812321, PMID:7902693, PMID:7902971, PMID:7908444, PMID:7916462, PMID:7936296, PMID:7954833, PMID:7999318, PMID:8105682, PMID:8137139, PMID:8461023, PMID:8618678, PMID:8698234, PMID:8939199, PMID:9270595, PMID:9279329, PMID:9482303, PMID:9531435, PMID:9643750, PMID:9653185, PMID:9748018, PMID:9751723, PMID:9789072, PMID:9813003, PMID:10079068, PMID:10090891, PMID:10360778, PMID:10437852, PMID:10526198, PMID:10581230, PMID:10588836, PMID:10612329, PMID:10665501, PMID:10889050, PMID:10953203, PMID:11488277, PMID:11506406, PMID:11506411, PMID:11749972, PMID:11756597, PMID:11839833, PMID:11840201, PMID:11967261, PMID:12372829, PMID:12420099, PMID:12451207, PMID:12601712, PMID:12690204, PMID:12813570, PMID:12815603, PMID:12867116, PMID:12891686, PMID:14520676, PMID:14562104, PMID:14610121, PMID:14761942, PMID:14872044, PMID:14967768, PMID:14970845, PMID:15277640, PMID:15366237, PMID:15539564, PMID:15557533, PMID:15987701, PMID:16217673, PMID:16227536, PMID:16313190, PMID:16315279, PMID:16369046, PMID:16391566, PMID:16565881, PMID:16939293, PMID:16969862, PMID:17013786, PMID:17029785, PMID:17494694, PMID:18955686, PMID:19696976, PMID:19703264, PMID:19923577, PMID:20038778, PMID:20139714, PMID:20514992, PMID:20541558, PMID:20583301, PMID:20592908, PMID:20593190, PMID:20697057, PMID:21269331, PMID:21298055, PMID:21839748, PMID:21909425, PMID:22072968, PMID:22097954, PMID:22108575, PMID:22318125, PMID:22561193, PMID:22584955, PMID:22947063, PMID:22999564, PMID:23132868, PMID:23176099, PMID:23296137, PMID:23527023, PMID:23555862, PMID:23723004, PMID:24583440, PMID:24838726, PMID:25064618, PMID:25279981, PMID:25482600, PMID:25522698, PMID:25741868, PMID:25959220, PMID:26268049, PMID:26488179, PMID:26578040, PMID:26791950, PMID:27341347, PMID:27350609, PMID:27803826, PMID:28492532, PMID:29382530 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
ClinVar Annotator: match by OMIM:607236
OMIM
ClinVar
PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:14638969, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
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 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718
JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628
JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913003 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar Annotator: match by OMIM:213600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22327515, PMID:23334463, PMID:25178512, PMID:25741868, PMID:27726124, PMID:28477710, PMID:28492532 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:74,408,085...74,422,070
Ensembl chr16:74,408,183...74,422,215
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
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 ISO ClinVar Annotator: match by OMIM:615007 OMIM
ClinVar
PMID:23255827, PMID:24796542 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 5
ClinVar Annotator: match by OMIM:615483
OMIM
ClinVar
PMID:21409505, PMID:23913003, PMID:25741868 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 ClinVar
OMIM
PMID:886353, PMID:25741868, PMID:25938945 NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
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 ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:25741868, PMID:29910000, PMID:30460687, PMID:30589467, PMID:30649222, PMID:30656188, PMID:31009047 NCBI chr 5:57,873,404...57,882,008
Ensembl chr 5:57,876,498...57,881,944
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 ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:26136916, PMID:31851307, PMID:32142645 NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
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 ISO ClinVar Annotator: match by OMIM:616126
ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification
ClinVar
OMIM
PMID:22859821, PMID:25307056, PMID:25741868, PMID:28492532 NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
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 ISO 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, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21249466, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22572540, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24123792, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25326637, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:26627873, PMID:27165006, PMID:27226613, PMID:27768726, PMID:28130640, PMID:28360103, PMID:28492532, PMID:28692196 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 ClinVar
OMIM
PMID:11891683, PMID:23455423, PMID:25741868, PMID:28492532 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
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 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
ClinVar Annotator: match by OMIM:615424
OMIM
ClinVar
PMID:20116073, PMID:23455423, PMID:25616961, PMID:25741868 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
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 ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23455423 RGD:10395280 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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 ISO ClinVar Annotator: match by term: Kufor-Rakeb syndrome
ClinVar Annotator: match by term: Parkinson disease 9
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606693
OMIM
ClinVar
CTD
PMID:495089, PMID:12169656, PMID:16964263, PMID:17485642, PMID:18075584, PMID:18075585, PMID:18414213, PMID:19015489, PMID:19085912, PMID:19360675, PMID:19458722, PMID:19705361, PMID:20137506, PMID:20816920, PMID:20853184, PMID:21060012, PMID:21094623, PMID:21542062, PMID:21665991, PMID:21696388, PMID:21714071, PMID:21724849, PMID:22022275, PMID:22296644, PMID:22388936, PMID:22743658, PMID:22768177, PMID:22847264, PMID:22995991, PMID:23499937, PMID:24088041, PMID:24399444, PMID:25374329, PMID:25466404, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27294386, PMID:28492532, PMID:29903538 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
JBrowse link
late onset Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1 alcohol dehydrogenase 1 (class I) ISO OMIM NCBI chr 2:243,550,655...243,562,243
Ensembl chr 2:243,550,627...243,687,857
JBrowse link
G Atxn2 ataxin 2 ISO OMIM NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease ClinVar NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:24218364, PMID:25118025, PMID:27270108 NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598
JBrowse link
G Eif4g1 eukaryotic translation initiation factor 4 gamma, 1 ISO ClinVar Annotator: match by OMIM:614251
ClinVar Annotator: match by term: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
ClinVar
OMIM
PMID:21907011, PMID:23408866, PMID:25368108 NCBI chr11:83,907,659...83,927,683
Ensembl chr11:83,908,109...83,926,524
JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:18252210, PMID:19133659 NCBI chr16:55,152,748...55,159,352
Ensembl chr16:55,152,748...55,159,352
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar Annotator: match by term: PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8774051, PMID:8790604, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9375849, PMID:9516376, PMID:9554746, PMID:10079102, PMID:10636167, PMID:10649495, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12694238, PMID:12734541, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15605411, PMID:16061944, PMID:16293621, PMID:17395504, PMID:17427031, PMID:17620502, PMID:17689991, PMID:18022370, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20947659, PMID:20980259, PMID:21106416, PMID:21257328, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22451204, PMID:22592100, PMID:22713811, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23676350, PMID:23719189, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25456120, PMID:25535748, PMID:25653295, PMID:25741868, PMID:25946768, PMID:26096741, PMID:26117366, PMID:26296077, PMID:26868973, PMID:26905200, PMID:27094865, PMID:27123474, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27865684, PMID:27872820, PMID:28492532, PMID:28686011, PMID:28779532, PMID:28923368, PMID:29527153, PMID:30311386, PMID:30662625 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:A>G313 (human) RGD PMID:17250723 RGD:5148021 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:24660942, PMID:26467025, PMID:27111571, PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Parkinson disease, late-onset OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:7624338, PMID:15972314 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by OMIM:168600
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, PMID:24126627, PMID:28492532 NCBI chr 3:43,111,258...43,128,391
Ensembl chr 3:43,111,240...43,119,159
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
JBrowse link
G Podxl podocalyxin-like ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar PMID:26864383 NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hereditary late onset Parkinson disease ClinVar NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
G RT1-Da RT1 class II, locus Da ISO DNA:SNP:intron: (rs3129882) (human) RGD PMID:21791235 RGD:5490156 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G Sncaip synuclein, alpha interacting protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinson disease, late-onset
CTD
ClinVar
PMID:12761037, PMID:18366718, PMID:28492532 NCBI chr18:47,739,284...47,877,679
Ensembl chr18:47,739,140...47,877,676
JBrowse link
G Tbp TATA box binding protein ISO OMIM NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Parkinson disease, late-onset ClinVar NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Becn1 beclin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,287,875...1,304,822
Ensembl chr  X:1,297,099...1,304,822
JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Gba glucosylceramidase beta ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Lewy body dementia
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)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2502917, PMID:2508065, PMID:2569551, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7655857, PMID:7789963, PMID:7916532, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8432537, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8790604, PMID:9040001, PMID:9153297, PMID:9240741, PMID:9279145, PMID:9554746, PMID:10079102, PMID:10636167, PMID:10649495, PMID:10685993, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12838552, PMID:12972024, PMID:14757438, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17059888, PMID:17395504, PMID:17427031, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20629126, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20947659, PMID:20980259, PMID:21257328, PMID:21384230, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22375149, PMID:22451204, PMID:22592100, PMID:22803570, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23588557, PMID:23676350, PMID:23699752, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25435509, PMID:25456120, PMID:25558695, PMID:25653295, PMID:25741868, PMID:25933391, PMID:25946768, PMID:26096741, PMID:26117366, PMID:26868973, PMID:26905200, PMID:27123476, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27735925, PMID:28492532, PMID:28779532, PMID:28923368, PMID:28947706, PMID:29091352, PMID:29527153, PMID:30311386, PMID:30764785, PMID:84325327, PMID:20971030, PMID:25933391 RGD:5508424, RGD:12791014 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:51,822,163...51,844,228
Ensembl chr 4:51,822,153...51,844,331
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism
CTD PMID:19276553, PMID:19276553 RGD:5129515 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism
CTD PMID:19276553, PMID:19276553 RGD:5129515 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862, PMID:20024519 RGD:6483091 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: RGD PMID:20665591 RGD:10448971 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:17467279 RGD:10412737 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:74,860,068...74,884,196
Ensembl chr10:74,861,714...74,884,196
JBrowse link
G Snca synuclein alpha ISO 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
PMID:9197268, PMID:9499430, PMID:9506559, PMID:9827625, PMID:10417297, PMID:11261505, PMID:14593171, PMID:14755719, PMID:14755720, PMID:15451224, PMID:15451225, PMID:15498564, PMID:15632170, PMID:16141792, PMID:16358335, PMID:17251522, PMID:17489854, PMID:17625105, PMID:18195271, PMID:18413475, PMID:18704525, PMID:18852445, PMID:18852448, PMID:18852449, PMID:19139307, PMID:19628769, PMID:19632874, PMID:19833540, PMID:20340137, PMID:23880019, PMID:24552873, PMID:24752924, PMID:25003242, PMID:28492532, PMID:20697047, PMID:18625222, PMID:11733371, PMID:10557341, PMID:18577885 RGD:6478704, RGD:13506723, RGD:6480103, RGD:6480095, RGD:6478792 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO DNA:mutations:cds:p.V70M, P123H (human)
ClinVar Annotator: match by OMIM:127750
protein:increased expression:hippocampus
ClinVar
OMIM
PMID:15365127, PMID:15365127, PMID:10557341, PMID:15483670 RGD:6219004, RGD:6480095, RGD:6478800 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid
RGD PMID:20697047, PMID:10557341, PMID:18577885 RGD:6478704, RGD:6480095, RGD:6478792 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20669025 RGD:5687180 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
MPTP Poisoning term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26364587 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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 ISO protein:increased expression:brain RGD PMID:27875637 RGD:14390070 NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO 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 NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Igf2 insulin-like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mir96 microRNA 96 ISO RNA:increased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 4:57,463,366...57,463,471
Ensembl chr 4:57,463,366...57,463,471
JBrowse link
G Mt3 metallothionein 3 ISO protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 4:123,638,619...123,713,469
Ensembl chr 4:123,642,210...123,713,464
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by OMIM:234200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301187, PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:12811783, PMID:14580665, PMID:14638969, PMID:15465096, PMID:15565311, PMID:15659606, PMID:15834858, PMID:15843062, PMID:15911822, PMID:16023068, PMID:16240131, PMID:16272150, PMID:16437574, PMID:16450344, PMID:17903678, PMID:19224615, PMID:20193558, PMID:20603201, PMID:20629144, PMID:21198414, PMID:21459825, PMID:21480873, PMID:22103354, PMID:22127788, PMID:22221393, PMID:22416811, PMID:22682757, PMID:23634310, PMID:23757202, PMID:23968566, PMID:24033266, PMID:24075960, PMID:24209433, PMID:24215330, PMID:24348190, PMID:24712887, PMID:25741868, PMID:25802776, PMID:25915509, PMID:26087139, PMID:26467025, PMID:26795593, PMID:26828213, PMID:27185474, PMID:28094106, PMID:28357202, PMID:28492532, PMID:28708303, PMID:28781879, PMID:28821231, PMID:28845923, PMID:28881514, PMID:29590070, PMID:30311386, PMID:30681573, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
Parkinson's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin onset ISO DNA:polymorphism: :p.I1000V (human) GAD
RGD
PMID:15118671, PMID:12133586 RGD:1331525, RGD:10046014 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20558393 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO
IEP
protein:increased phosphorylation:striatum:
protein:increased expression:brain:
RGD PMID:20823226, PMID:24412932, PMID:24412932 RGD:8693409, RGD:8693592, RGD:8693592 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ache acetylcholinesterase ISO RGD PMID:19474411 RGD:5509846 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adarb2 adenosine deaminase, RNA-specific, B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr17:58,098,979...58,653,137
Ensembl chr17:58,104,559...58,301,260
JBrowse link
G Adcy5 adenylate cyclase 5 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
JBrowse link
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 2:243,500,540...243,516,865
Ensembl chr 2:243,502,073...243,516,532
JBrowse link
G Afdn afadin, adherens junction formation factor ISO protein:decreased expression: caudate-putamen, substantia nigra RGD PMID:23393160 RGD:13838733 NCBI chr 1:53,713,873...53,861,918
Ensembl chr 1:53,715,693...53,802,658
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:caudate nucleus,putamen,substantia nigra: RGD PMID:8666063 RGD:10047397 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Akt1 AKT serine/threonine kinase 1 no_association ISO DNA:SNPs:introns:multiple (human)
DNA:SNPs, haplotype:introns:multiple (human)
protein:altered expression:brain
RGD PMID:21741444, PMID:18395980, PMID:19800394 RGD:5509064, RGD:5509076, RGD:5509074 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Ang angiogenin ISO DNA:mutations:multiple RGD PMID:22190368 RGD:6892707 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Anxa5 annexin A5 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:10584677 RGD:10053728 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO RGD PMID:24835407 RGD:13503333 NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: altered expression: cerebrospinal fluid: 2 different isoforms RGD PMID:20085559 RGD:5508216 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arpc3 actin related protein 2/3 complex, subunit 3 treatment IDA RGD PMID:20713051 RGD:11049454 NCBI chr12:39,653,951...39,667,817
Ensembl chr12:39,653,953...39,667,849
JBrowse link
G Atg7 autophagy related 7 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
JBrowse link
G Atm ATM serine/threonine kinase ISO protein:increased serine phosphorylation:cingulate gyrus RGD PMID:20502937 RGD:10053605 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23628791, PMID:25149416, PMID:26223426 RGD:10450518 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:corpus striatum RGD PMID:7605592 RGD:6482706 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bag5 BAG cochaperone 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28348719 NCBI chr 6:136,180,640...136,185,651
Ensembl chr 6:136,182,006...136,185,651
JBrowse link
G Bdnf brain-derived neurotrophic factor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
protein:decreased expression:substantia nigra pars compacta:
CTD PMID:19276553, PMID:15118671, PMID:16565926, PMID:10208589 RGD:1331525, RGD:10059346, RGD:8657025 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16114020 RGD:7207224 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19915576 NCBI chr14:71,798,218...71,814,540
Ensembl chr14:71,798,651...71,814,523
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:16505307 RGD:13503345 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 ISO protein:increased activity:blood, leukocyte RGD PMID:16505307 RGD:13503345 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cast calpastatin ISO DNA:SNP:intron: (rs1559085) (human)
protein:decreased expression:substantia nigra, dopaminergic neuron
RGD PMID:20127884, PMID:10722997 RGD:5509800, RGD:5683320 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cck cholecystokinin no_association ISO RGD PMID:10668930, PMID:10668930 RGD:1626086, RGD:1626086 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:substantia nigra (rat) RGD PMID:19463894 RGD:2314505 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:81,683,500...81,701,230
Ensembl chr 1:81,683,463...81,701,317
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Col19a1 collagen type XIX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 9:30,508,003...30,864,836
Ensembl chr 9:30,515,089...30,844,199
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159062, PMID:25758665 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human) RGD PMID:3502064 RGD:5508835 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crp C-reactive protein ISO RGD PMID:22426659 RGD:6482307 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association
susceptibility
ISO DNA:missense mutation:cds:p.I462V (human)
DNA:polymorphisms (human)
RGD PMID:11793160, PMID:8872868, PMID:11484167 RGD:5147678, RGD:5147681, RGD:5147679 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14991823, PMID:15174030 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16510128 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Dbh dopamine beta-hydroxylase susceptibility ISO protein:increased expression:frontal cortex (human)
DNA:snp:5' utr:g.-1021C>T (human)
RGD PMID:19276553, PMID:14991826 RGD:5129515, RGD:1358583 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Dbn1 drebrin 1 treatment IEP levodopainduced; protein:increased expression:striatum: RGD PMID:23241013 RGD:10398811 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Ddc dopa decarboxylase IEP
ISO
IMP
protein:altered expression:arcuate nucleus ((rat)
CTD Direct Evidence: therapeutic
human gene in a rat model
CTD PMID:2969953, PMID:11445284, PMID:15935614, PMID:12703659, PMID:9853519 RGD:5129231, RGD:4139893, RGD:5129121 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17005863 NCBI chr20:29,509,283...29,511,382
Ensembl chr20:29,509,289...29,511,382
JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar NCBI chr 5:156,668,924...156,676,036
Ensembl chr 5:156,668,712...156,676,035
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 IEP protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chr11:72,164,566...72,378,895
Ensembl chr11:72,163,749...72,378,895
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles RGD PMID:15703272 RGD:2306834 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chr 8:112,697,907...112,830,445
Ensembl chr 8:112,698,348...112,807,598
JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25639775 RGD:10450521 NCBI chr 5:120,330,372...120,492,515
Ensembl chr 5:120,340,646...120,492,487
JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28215578 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 5:164,913,085...164,943,012
Ensembl chr 5:164,913,906...164,927,869
JBrowse link
G Drd1 dopamine receptor D1 treatment IEP
ISO
IDA
protein:decreased expression:striatum (rat)
CTD Direct Evidence: therapeutic
CTD PMID:8558425, PMID:16365282, PMID:23041629 RGD:7248455, RGD:7248595 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Drd2 dopamine receptor D2 IEP
ISO
protein:increased expression:striatum (rat)
CTD Direct Evidence: therapeutic
CTD PMID:8558425, PMID:18289173 RGD:2311585 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 severity ISO protein:increased expression:blood, lymphocyte
mRNA:decreased expression:blood, lymphocyte
RGD PMID:10495037, PMID:8618685 RGD:5686418, RGD:5686419 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Drd5 dopamine receptor D5 ISO protein:increased expression:blood, lymphocyte RGD PMID:10495037 RGD:5686418 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egf epidermal growth factor disease_progression ISO RGD PMID:21520231 RGD:10059679 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egfr epidermal growth factor receptor ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:15567511 RGD:10395348 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G En1 engrailed homeobox 1 ISO DNA:SNP:enhancer: (rs1438852) (human) RGD PMID:19345444 RGD:5687197 NCBI chr13:36,532,758...36,537,888
Ensembl chr13:36,532,758...36,537,093
JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Ephx1 epoxide hydrolase 1 no_association ISO DNA:missense mutation:exon:p.Y113H (human)
DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human)
RGD PMID:10720475, PMID:11692079 RGD:5490167, RGD:5688390 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Ephx2 epoxide hydrolase 2 no_association ISO DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) RGD PMID:11692079 RGD:5688390 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:19727138 RGD:10400901 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:decreased expression:forebrain RGD PMID:15857400 RGD:2289955 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Esr2 estrogen receptor 2 onset ISO DNA:polymorphism: :1730A>G(human) RGD PMID:15219649 RGD:5508776 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:neurones of the substantia nigra pars: RGD PMID:11054182 RGD:12903948 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand IEP
ISO
protein:increased expression:substantia nigra pars compacta, striatum (rat)
protein:decreased expression:neurones of the substantia nigra pars:
RGD PMID:17959308, PMID:11054182 RGD:2290172, RGD:12903948 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353766 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson Disease, Recessive ClinVar PMID:26223426 RGD:10450518 NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr12:2,233,772...2,245,324
Ensembl chr12:2,233,778...2,245,324
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 IEP RGD PMID:23888906 RGD:13208826 NCBI chr 8:39,305,128...39,350,270
Ensembl chr 8:39,305,128...39,350,270
JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23233872 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Gak cyclin G associated kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711177 NCBI chr14:2,100,104...2,174,332
Ensembl chr14:2,100,106...2,174,318
JBrowse link
G Gba glucosylceramidase beta no_association
onset
ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Parkinson's disease
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human)
DNA:missense mutation:cds:p.N370S (human)
DNA:missense mutations:cds:p.E326K, p.T369M (human)
ClinVar
CTD
PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8774051, PMID:8790604, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9375849, PMID:9554746, PMID:10079102, PMID:10636167, PMID:10649495, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12694238, PMID:12734541, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15605411, PMID:16061944, PMID:16293621, PMID:17395504, PMID:17427031, PMID:17620502, PMID:18022370, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20947659, PMID:20980259, PMID:21106416, PMID:21257328, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22451204, PMID:22592100, PMID:22713811, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23676350, PMID:23719189, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25064009, PMID:25127542, PMID:25249066, PMID:25456120, PMID:25535748, PMID:25653295, PMID:25741868, PMID:25946768, PMID:26096741, PMID:26117366, PMID:26868973, PMID:26905200, PMID:27094865, PMID:27123474, PMID:27312774, PMID:27682613, PMID:27717005, PMID:28492532, PMID:28686011, PMID:28779532, PMID:28923368, PMID:29527153, PMID:30311386, PMID:30662625, PMID:21242499, PMID:24126159, PMID:25639775, PMID:26223426, PMID:19945510, PMID:20528910, PMID:20947659 RGD:5508422, RGD:12791016, RGD:10450521, RGD:10450518, RGD:5508429, RGD:5508427, RGD:5508425 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gdf5 growth differentiation factor 5 treatment ISO
IEP
mRNA:increased expression:striatum: RGD PMID:22436046, PMID:24373993 RGD:12738227, RGD:12738228 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:putamen
CTD Direct Evidence: therapeutic
CTD PMID:11031079, PMID:16324109, PMID:16644101 RGD:6218968 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gjc2 gap junction protein, gamma 2 treatment IEP RGD PMID:21561882 RGD:13208520 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:51,822,163...51,844,228
Ensembl chr 4:51,822,153...51,844,331
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15824117 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IEP Protein: decreased expression: brain RGD PMID:17996024 RGD:5685370 NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP protein:decreased expression:caudate putamen (rat) RGD PMID:17996024 RGD:5685370 NCBI chr12:49,626,871...49,750,389
Ensembl chr12:49,626,871...49,746,272
JBrowse link
G Grk5 G protein-coupled receptor kinase 5 no_association ISO
IEP
DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293
protein: decreased expression: brain
RGD PMID:21046632, PMID:17996024, PMID:17125886 RGD:5688382, RGD:5685370, RGD:5688384 NCBI chr 1:282,265,371...282,467,842
Ensembl chr 1:282,265,370...282,462,605
JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO
IEP
human gene in rat model
protein: decreased expression: brain
RGD PMID:22090514, PMID:17996024 RGD:5684916, RGD:5685370 NCBI chr17:9,705,917...9,721,921
Ensembl chr17:9,703,453...9,721,574
JBrowse link
G Grn granulin precursor no_association ISO protein:decreased expression:serum
DNA:SNP:3' utr:*78C>T (rs5848) (human)
RGD PMID:23398167, PMID:19473366 RGD:10401642, RGD:10401644 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:23094836 RGD:10045553 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO mRNA:increased expression:striatum (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:16510128, PMID:20964710 RGD:5687772 NCBI chr 8:85,497,557...85,514,732
Ensembl chr 8:85,497,557...85,518,879
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association
onset
ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:cds (human)
CTD PMID:17449559, PMID:17403576, PMID:10534244, PMID:10720475 RGD:5148019, RGD:7488959, RGD:5490167 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gsto1 glutathione S-transferase omega 1 onset
susceptibility
ISO DNA:polymorphism:exon:p. A140D (rs4925) (human) RGD PMID:14570706, PMID:17194543 RGD:1358651, RGD:5490299 NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
JBrowse link
G Gsto2 glutathione S-transferase omega 2 susceptibility
onset
ISO DNA:polymorphism: : -183 A>G (rs2297235)(human)
DDNA:polymorphism: : -183 A>G (rs2297235)(human)
RGD PMID:17194543, PMID:14570706 RGD:5490299, RGD:1358651 NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517
Ensembl chr 1:271,229,036...271,243,517
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:del: :
CTD Direct Evidence: marker/mechanism
CTD PMID:17190945, PMID:23721876, PMID:9802272 RGD:1358669 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:10953187 RGD:5490165 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO protein:decreased expression:brain, mitochondrion RGD PMID:24333691 RGD:10449046 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25475535 NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 IEP mRNA:increased expression:neuron: RGD PMID:19320057 RGD:9693679 NCBI chr 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988
JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16824219 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:16791285 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:18184918 RGD:5508459 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:19773194, PMID:17985251 RGD:5509775, RGD:5509778 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA
IEP
protein:decreased expression:midbrain (rat) RGD PMID:24852355, PMID:24296154 RGD:10402545, RGD:10402753 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15585408 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IEP protein:decreased expression:striatum (rat) RGD PMID:22186119 RGD:5686884 NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO
IEP
protein: decreased expression
protein: increased expression: brain
RGD PMID:20697033, PMID:17241115, PMID:18704197 RGD:6218982, RGD:6480228, RGD:6480203 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 disease_progression ISO DNA:mutation:cds:A>T476(human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:brain
DNA:mutations:multiple:
CTD PMID:16565515, PMID:20817635, PMID:16565515, PMID:18219256, PMID:19657588 RGD:6784528, RGD:6784531, RGD:6784530, RGD:6784529 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:23943523 RGD:10402846 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A IMP RGD PMID:20508280 RGD:5683633 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
JBrowse link
G Htra2 HtrA serine peptidase 2 no_association ISO DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human)
DNA:missense mutation:cds:p.P143A (human)
DNA:missense mutations:cds:p.A141S, p.G399S (human)
DNA:missense mutation:cds:p.R404W (human)
DNA:missense mutation:cds:p.S276C (mouse)
RGD PMID:15509788, PMID:21338583, PMID:21701785, PMID:18364387, PMID:18401856, PMID:14534547, PMID:15961413 RGD:5688367, RGD:5688714, RGD:5688395, RGD:5688394, RGD:5688393, RGD:5688392, RGD:5688381 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Htt huntingtin ISO RGD PMID:26192120 RGD:13452383 NCBI chr14:81,105,139...81,254,637
Ensembl chr14:81,105,139...81,254,637
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IMP
ISO
protein: altered activity
CTD Direct Evidence: marker/mechanism
mRNA:altered expression:brain:
CTD PMID:19276553, PMID:19703168, PMID:19276553 RGD:5686429, RGD:5129515 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism
CTD PMID:19276553, PMID:19276553 RGD:5129515 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Il1b interleukin 1 beta ISO
IDA
RGD PMID:12070246, PMID:23159314 RGD:1358742, RGD:7175549 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21318773 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO CTD Direct Evidence: therapeutic CTD PMID:18619942 NCBI chr 7:120,717,378...120,744,602
Ensembl chr 7:120,717,375...120,744,602
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISS OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 MouseDO NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:19995872 RGD:6483033 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lep leptin treatment IDA rat protein in a mouse model RGD PMID:17895242 RGD:10053631 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 susceptibility
no_association
ISO DNA:missense mutations:cds:multiple
ClinVar Annotator: match by term: Parkinson Disease, Dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.N1437H (c.4309C>A) (human)
DNA:mutation: :p.R1441G (human)
DNA:missense mutation:cds:p.R1398H (human)
DNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R (human)
DNA:missense mutation:cds:p.G2019S (human)
ClinVar
CTD
PMID:17388990, PMID:19357115, PMID:19915575, PMID:19915576, PMID:20205471, PMID:22043175, PMID:23017109, PMID:23472874, PMID:23628791, PMID:25149416, PMID:25475535, PMID:25631236, PMID:26467025, PMID:28492532, PMID:21989859, PMID:25639775, PMID:26223426, PMID:20720502, PMID:20669305, PMID:20721916, PMID:21159540, PMID:21167764, PMID:21483109, PMID:21954089 RGD:5508399, RGD:10450521, RGD:10450518, RGD:5508420, RGD:5508416, RGD:5508415, RGD:5508409, RGD:5508408, RGD:5508406, RGD:5508404 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17449559 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B IEP
ISO
protein:increased activity:striatum (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21318773, PMID:17417741, PMID:9129714 RGD:2316771, RGD:1358484 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21815648 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mapt microtubule-associated protein tau susceptibility ISO DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs8070723) (human)
DNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human)
DNA:SNPs, haplotypes: :multiple
CTD PMID:19915575, PMID:20711177, PMID:19879020, PMID:22221882, PMID:18785640, PMID:18162161 RGD:8158095, RGD:8158107, RGD:8158106, RGD:8158096 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mir1 microRNA 1 ISO RGD PMID:21295623 RGD:10755488 NCBI chr18:2,054,933...2,055,019 JBrowse link
G Mir106a microRNA 106a ISO RGD PMID:25553963 RGD:10450788 NCBI chr  X:140,117,891...140,117,968
Ensembl chr  X:140,117,891...140,117,968
JBrowse link
G Mir132 microRNA 132 ISO RGD PMID:25553963 RGD:10450788 NCBI chr10:62,014,995...62,015,095
Ensembl chr10:62,014,995...62,015,095
JBrowse link
G Mir181c microRNA 181c ISO CTD Direct Evidence: marker/mechanism CTD PMID:28770951 NCBI chr19:25,290,211...25,290,316
Ensembl chr19:25,290,211...25,290,316
JBrowse link
G Mir19b1 microRNA 19b-1 ISO RGD PMID:22003392 RGD:10755479 NCBI chr15:100,180,464...100,180,550
Ensembl chr15:100,180,464...100,180,550
JBrowse link
G Mir22 microRNA 22 ISO RGD PMID:21295623 RGD:10755488 NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
JBrowse link
G Mir29b1 microRNA 29b-1 ISO RGD PMID:22003392 RGD:10755479 NCBI chr 4:58,344,310...58,344,390
Ensembl chr 4:58,344,310...58,344,390
JBrowse link
G Mir301a microRNA 301a ISO RGD PMID:22003392 RGD:10755479 NCBI chr10:74,417,746...74,417,845
Ensembl chr10:74,417,746...74,417,845
JBrowse link
G Mir34b microRNA 34b ISO RGD PMID:21558425 RGD:10755477 NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
JBrowse link
G Mir34c microRNA 34c ISO RGD PMID:21558425 RGD:10755477 NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100