Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:choreatic disease
go back to main search page
Accession:DOID:12859 term browser browse the term
Definition:A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. (DO)
Synonyms:exact_synonym: BCH;   BHC;   Benign Hereditary Chorea;   Chorea;   Chorea Disorder;   Chorea Syndrome;   Chorea Syndromes;   Choreas;   Choreatic Disorder;   Choreatic Disorders;   Choreatic Syndrome;   Choreatic Syndromes;   Choreic Movement;   Choreic Movements;   Choreiform Movement;   Choreiform Movements;   Chronic Progressive Chorea;   Chronic Progressive Choreas;   Hereditary Chorea;   Hereditary Choreas;   Hereditary Progressive Chorea Without Dementia;   Paroxysmal Dyskinesia;   Paroxysmal Dyskinesias;   Rheumatic Chorea;   Rheumatic Choreas;   Senile Chorea;   Senile Choreas;   St. Vitus Dance;   St. Vitus's Dance;   St. Vitus's Dances;   St. Vituss Dance;   Sydenham chorea;   Sydenham choreas;   Sydenham's chorea;   Sydenhams chorea;   benign hereditary choreas;   chorea disorders
 primary_id: MESH:D002819
 alt_id: MIM:118700;   OMIA:002084
 xref: EFO:0004152;   ORDO:1429
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
choreatic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 3:50,288,926...50,430,152
Ensembl chr 3:51,526,075...51,640,406
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr10:126,432,326...126,561,328 JBrowse link
G FRRS1L ferric chelate reductase 1 like ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:23056405 PMID:25741868 PMID:27236917 PMID:28492532 PMID:32928027 NCBI chr 9:80,283,385...80,320,293 JBrowse link
G GLRX3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr10:126,730,314...126,775,918
Ensembl chr10:130,973,022...131,019,742
JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:28492532 PMID:28668776 PMID:29389947 PMID:29935962 More... NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO associated with Rheumatic Fever;DNA:polymorphism (human) RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352
JBrowse link
G NKX2-1 NK2 homeobox 1 susceptibility ISO DNA:transition: ; 745C>T
ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
RGD
ClinVar
OMIM
PMID:9536098 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 More... RGD:1600157
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697
JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:89,504,404...89,622,354
Ensembl chr  X:99,643,595...99,759,631
JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:32467598 NCBI chr11:67,653,335...67,753,450
Ensembl chr11:70,875,552...70,975,322
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO Dyskinesia, paroxysmal, PIGN-related OMIA PMID:15474685 PMID:27891564 PMID:28703446 PMID:33769611 PMID:36086931 More... NCBI chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO choreoacanthocytosis, OMIM:200150 RGD PMID:11381253 RGD:1599747 NCBI chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:178,019,161...178,025,272
Ensembl chr 3:186,191,128...186,195,666
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Costeff optic atrophy syndrome ClinVar PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM
ClinVar
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr19:42,477,467...42,546,814
Ensembl chr19:51,073,322...51,130,555
JBrowse link
Benign Familial Chorea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-1 NK2 homeobox 1 ISO DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)
DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)
DNA:splice-site mutation:intron:c.464-9C>A (human)
RGD PMID:11971878 PMID:18788921 PMID:22825795 RGD:11073166 RGD:12914772 RGD:12914773
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,434,357...3,448,471
Ensembl chr14:21,535,753...21,549,856
JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,878,426...3,915,802
Ensembl chr14:21,975,370...22,012,092
JBrowse link
G ADCY4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,094,899...5,111,603
Ensembl chr14:23,218,178...23,234,861
JBrowse link
G AJUBA ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700
JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166
JBrowse link
G ANG angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,378,017...4,386,319
Ensembl chr14:22,471,343...22,479,801
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239
JBrowse link
G ARF6 ARF GTPase 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,482,191...30,486,741
Ensembl chr14:48,789,329...48,789,856
JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,844,042...12,934,411
Ensembl chr14:31,036,511...31,125,349
JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466
JBrowse link
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473
JBrowse link
G BRMS1L BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,579,323...16,628,005
Ensembl chr14:34,759,935...34,807,803
JBrowse link
G C15H14orf119 chromosome 15 C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,915,675...3,918,781 JBrowse link
G C15H14orf93 chromosome 15 C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,807,076...3,830,892
Ensembl chr14:21,905,028...21,928,242
JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,830,041...4,847,897
Ensembl chr14:22,954,274...22,971,981
JBrowse link
G CBLN3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,200,297...5,206,018 JBrowse link
G CDH24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,866,958...3,877,393
Ensembl chr14:21,964,897...21,972,528
JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219
JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361
JBrowse link
G CHMP4A charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,985,642...4,989,985 JBrowse link
G CLEC14A C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,014,672...19,018,551
Ensembl chr14:37,374,493...37,375,965
JBrowse link
G CMA1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548
JBrowse link
G CMTM5 CKLF like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,195,460...4,198,422
Ensembl chr14:22,290,354...22,292,592
JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943
JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,848,845...4,856,085
Ensembl chr14:22,973,157...22,980,341
JBrowse link
G CTSG cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,342,517...5,345,218
Ensembl chr14:23,466,265...23,468,960
JBrowse link
G DAD1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,401,048...3,425,359
Ensembl chr14:21,502,618...21,526,793
JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,890,956...4,900,296
Ensembl chr14:23,015,680...23,024,650
JBrowse link
G DHRS1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,066,996...5,076,229
Ensembl chr14:23,190,323...23,199,587
JBrowse link
G DHRS4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 Ensembl chr14:22,831,756...22,846,695 JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800
JBrowse link
G DORIP1 dopamine receptor interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,514,741...25,524,710
Ensembl chr14:43,843,018...43,852,917
JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,222,744...12,234,227
Ensembl chr14:30,419,810...30,431,296
JBrowse link
G EAPP E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,273,149...15,297,241
Ensembl chr14:33,462,959...33,485,186
JBrowse link
G EDDM3A epididymal protein 3A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,608,955...1,610,069
Ensembl chr14:19,666,172...19,666,615
JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,630,027...1,632,566
Ensembl chr14:19,688,641...19,689,084
JBrowse link
G EFS embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,174,676...4,185,215
Ensembl chr14:22,270,952...22,278,732
JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241
JBrowse link
G EMC9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,915,214...4,917,889
Ensembl chr14:23,039,400...23,042,054
JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958
JBrowse link
G FBXO33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,170,332...20,205,181
Ensembl chr14:38,526,437...38,558,626
JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,906,504...4,909,119
Ensembl chr14:23,031,818...23,033,459
JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,732,308...25,750,885
Ensembl chr14:44,060,160...44,078,742
JBrowse link
G FOXA1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,347,284...18,352,705 JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,124,746...25,127,510 JBrowse link
G G2E3 G2/M-phase specific E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,338,212...11,398,545
Ensembl chr14:29,484,584...29,539,430
JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,884,100...19,906,823
Ensembl chr14:38,240,379...38,261,925
JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,008,664...5,015,461
Ensembl chr14:23,132,227...23,139,044
JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789
JBrowse link
G GZMB granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,399,888...5,403,200
Ensembl chr14:23,523,619...23,526,931
JBrowse link
G GZMH granzyme H ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,375,775...5,379,021
Ensembl chr14:23,499,513...23,502,674
JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,766,343...3,777,591
Ensembl chr14:21,865,257...21,875,756
JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,070,011...12,230,065
Ensembl chr14:30,267,861...30,395,893
JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,871,973...11,979,548
Ensembl chr14:30,070,567...30,176,915
JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,022,280...2,083,215 JBrowse link
G HOMEZ homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,093,357...4,106,323
Ensembl chr14:22,188,881...22,200,496
JBrowse link
G IL25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498
JBrowse link
G INSM2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,287,866...16,290,884 JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,956,456...4,965,305
Ensembl chr14:23,079,910...23,088,610
JBrowse link
G IRF9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824
JBrowse link
G JPH4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,386,487...4,397,552
Ensembl chr14:22,479,813...22,490,924
JBrowse link
G KHNYN KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,205,650...5,216,436
Ensembl chr14:23,329,932...23,340,966
JBrowse link
G KLHDC1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,272,009...30,334,693
Ensembl chr14:48,580,779...48,642,724
JBrowse link
G KLHDC2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105
JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,540,348...25,578,933
Ensembl chr14:43,869,220...43,905,989
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993
JBrowse link
G LOC100976049 dehydrogenase/reductase SDR family member 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,457,316...4,466,551
Ensembl chr14:22,551,645...22,558,926
JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
JBrowse link
G LOC100979193 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,076,270...5,085,596
Ensembl chr14:23,199,608...23,208,877
JBrowse link
G LOC100980742 putative uncharacterized protein encoded by LINC01599 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,671,031...30,680,109 JBrowse link
G LOC100980776 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,474,364...2,475,305
Ensembl chr14:20,591,011...20,591,952
JBrowse link
G LOC100981889 non-secretory ribonuclease ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,759,482...1,760,873
Ensembl chr14:19,841,364...19,841,849
JBrowse link
G LOC100987236 signal recognition particle subunit SRP54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151
JBrowse link
G LOC100988821 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,969,308...1,970,494
Ensembl chr14:20,051,042...20,052,130
JBrowse link
G LOC100992784 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,386,394...2,387,532
Ensembl chr14:20,462,044...20,462,985
JBrowse link
G LOC100993494 olfactory receptor 10G2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,418,780...2,419,723 JBrowse link
G LRFN5 leucine rich repeat and fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,185,289...22,480,641
Ensembl chr14:40,676,278...40,814,212
JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936
JBrowse link
G LRR1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,176,924...30,192,847
Ensembl chr14:48,486,914...48,502,794
JBrowse link
G LTB4R leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,088,907...5,094,571
Ensembl chr14:23,215,469...23,216,527
JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746
JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:27,434,904...28,274,969
Ensembl chr14:45,752,214...46,583,991
JBrowse link
G MDP1 magnesium dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,987,859...4,992,300
Ensembl chr14:23,112,062...23,116,606
JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,804,655...1,811,771
Ensembl chr14:19,886,675...19,893,901
JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906
JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,199,011...30,201,566 JBrowse link
G MIA2 MIA SH3 domain ER export factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,006,513...20,123,814
Ensembl chr14:38,361,828...38,513,998
JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352
JBrowse link
G MIS18BP1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,819,302...25,869,819
Ensembl chr14:44,147,183...44,189,888
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,647,387...3,651,940
Ensembl chr14:21,746,646...21,751,108
JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,831,764...1,840,819
Ensembl chr14:19,913,674...19,967,470
JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,993,011...5,008,620
Ensembl chr14:23,117,271...23,132,249
JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258
JBrowse link
G NFATC4 nuclear factor of activated T cells 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,155,331...16,158,588 JBrowse link
G NGDN neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,288,325...4,296,671
Ensembl chr14:22,382,334...22,390,718
JBrowse link
G NKX2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM
ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More...
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339
JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:7,193,308...7,345,535
Ensembl chr14:25,314,077...25,466,861
JBrowse link
G NPAS3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:13,701,786...14,568,738
Ensembl chr14:31,893,101...32,758,096
JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187
JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,338,341...12,628,346 JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905
JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101
JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,126,179...4,144,810
Ensembl chr14:22,220,986...22,239,403
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697
JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,872,276...4,882,118
Ensembl chr14:22,996,813...23,006,775
JBrowse link
G PNN pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,945,185...19,952,922
Ensembl chr14:38,300,782...38,308,512
JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,222,957...30,268,455
Ensembl chr14:48,531,945...48,576,700
JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,118,827...4,122,294
Ensembl chr14:22,215,635...22,216,794
JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842
JBrowse link
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030
JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657
JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,700,636...25,732,012
Ensembl chr14:44,027,452...44,059,865
JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347
JBrowse link
G PSMB11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,861,823...3,863,949
Ensembl chr14:21,959,146...21,960,048
JBrowse link
G PSMB5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,845,951...3,855,335
Ensembl chr14:21,943,432...21,952,169
JBrowse link
G PSME1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405
JBrowse link
G PSME2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296
JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,276,798...2,294,730
Ensembl chr14:20,353,701...20,371,629
JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,041,694...5,047,775
Ensembl chr14:23,163,034...23,171,311
JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430
JBrowse link
G RBM23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,710,492...3,736,415
Ensembl chr14:21,817,434...21,835,668
JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948
JBrowse link
G REM2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,700,397...3,704,897
Ensembl chr14:21,800,155...21,804,692
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,663,595...1,665,121
Ensembl chr14:19,720,127...19,720,597
JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,847,810...1,849,797 JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201
JBrowse link
G RNASE6 ribonuclease A family member 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,642,819...1,644,582
Ensembl chr14:19,700,536...19,700,988
JBrowse link
G RNASE7 ribonuclease A family member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,857,213...1,858,781
Ensembl chr14:19,939,884...19,940,354
JBrowse link
G RNASE8 ribonuclease A family member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,872,595...1,873,331
Ensembl chr14:19,954,680...19,955,147
JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,056,671...4,093,210
Ensembl chr14:22,153,247...22,188,319
JBrowse link
G RNF31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:27,254,150...27,255,381
Ensembl chr14:45,565,079...45,565,723
JBrowse link
G RPL36AL ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,196,924...30,198,944
Ensembl chr14:48,506,945...48,507,265
JBrowse link
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,155,559...30,164,677 JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,338,806...2,354,970
Ensembl chr14:20,416,071...20,431,000
JBrowse link
G SCFD1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,401,378...11,508,418
Ensembl chr14:29,602,241...29,709,133
JBrowse link
G SDR39U1 short chain dehydrogenase/reductase family 39U member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,216,102...5,219,234
Ensembl chr14:23,339,388...23,342,423
JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,802,612...19,873,076
Ensembl chr14:38,159,381...38,229,550
JBrowse link
G SLC22A17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,165,419...4,172,002
Ensembl chr14:22,260,079...22,266,667
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633
JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,813,992...1,818,226
Ensembl chr14:19,896,112...19,898,728
JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112
JBrowse link
G SNX6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,319,526...15,388,326
Ensembl chr14:33,511,019...33,576,705
JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764
JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,190,833...15,219,882 JBrowse link
G SSTR1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,968,969...18,973,560
Ensembl chr14:37,329,309...37,330,484
JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,668,426...11,798,776
Ensembl chr14:29,869,414...29,997,838
JBrowse link
G STXBP6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,578,254...5,819,152 JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
JBrowse link
G THTPA thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,374,439...4,378,028
Ensembl chr14:22,467,506...22,471,356
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,965,352...4,972,476 JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,913,655...1,917,874 JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042
JBrowse link
G TOX4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,294,892...2,316,901
Ensembl chr14:20,371,820...20,393,696
JBrowse link
G TPPP2 tubulin polymerization promoting protein family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,839,314...1,847,789
Ensembl chr14:19,927,478...19,928,973
JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,917,745...19,940,589
Ensembl chr14:38,273,526...38,296,231
JBrowse link
G TSSK4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,980,178...4,984,291
Ensembl chr14:23,104,197...23,108,037
JBrowse link
G TTC6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,363,956...18,601,589
Ensembl chr14:36,740,892...36,962,078
JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,695,992...30,707,327
Ensembl chr14:49,002,181...49,013,187
JBrowse link
G ZFHX2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,339,326...4,370,756
Ensembl chr14:22,433,148...22,463,925
JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,904,632...1,919,304
Ensembl chr14:19,986,653...20,000,300
JBrowse link
Childhood-Onset Chorea with Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR88 G protein-coupled receptor 88 ISO ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation | ClinVar Annotator: match by term: GPR88-related condition OMIM
ClinVar
PMID:25741868 PMID:27123486 PMID:28492532 NCBI chr 1:103,194,721...103,200,712 JBrowse link
choreaacanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:15918062 NCBI chr 9:47,196,338...47,423,388 JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 More... NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition OMIM
ClinVar
PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 More... NCBI chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
JBrowse link
Huntington's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase treatment ISO RGD PMID:152600 PMID:6237280 RGD:10046047 RGD:10047058 NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
JBrowse link
G ACHE acetylcholinesterase (Yt blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
JBrowse link
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr2B:62,348,245...62,444,428
Ensembl chr2B:179,799,365...179,895,007
JBrowse link
G ATF5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr19:46,941,480...46,946,697
Ensembl chr19:55,859,476...55,861,708
JBrowse link
G ATRX ATRX chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486
JBrowse link
G BAG1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041 RGD:10054048 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCHE butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:17885687 PMID:18093249 PMID:19499586 RGD:10058981 RGD:10059353 RGD:10415531 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:10413886 RGD:13432082 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CASP9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:
RGD PMID:12095160 RGD:13432083 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G CAT catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:17213233 PMID:21651979 RGD:10401191 RGD:6484269 NCBI chr19:30,223,567...30,226,204 JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr20:46,533,163...46,535,282 JBrowse link
G CHAT choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr10:44,574,925...44,629,618 JBrowse link
G CIB1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr15:68,919,377...68,923,213 JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 6:86,017,141...86,044,889 JBrowse link
G CNR2 cannabinoid receptor 2 ISO RGD PMID:19115380 RGD:2316196 NCBI chr 1:23,066,153...23,108,065
Ensembl chr 1:24,050,008...24,051,090
JBrowse link
G CNTF ciliary neurotrophic factor treatment ISO human gene in a cynomolgus monkey model RGD PMID:9121555 PMID:12040055 RGD:628474 RGD:734795 NCBI chr11:53,876,081...53,882,870
Ensembl chr11:57,336,792...57,341,121
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:10059577 RGD:734817 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
JBrowse link
G CREBBP CREB binding protein disease_progression
treatment
ISO protein:altered localization:nucleus RGD PMID:11264541 PMID:19291221 PMID:20448484 RGD:10059583 RGD:13432093 RGD:13432094 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
JBrowse link
G CTSH cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr12:119,808,718...119,829,378
Ensembl chr12:123,176,405...123,196,359
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex
RGD PMID:24728190 PMID:25568121 RGD:13432154 RGD:13432155 NCBI chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985
JBrowse link
G DNAH6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr2A:84,569,813...84,873,380
Ensembl chr2A:86,129,741...86,431,912
JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 PMID:18815258 RGD:2302117 RGD:5686414 RGD:7248682 NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257
JBrowse link
G DRD2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414 RGD:7248682 NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr 3:111,265,834...111,317,176
Ensembl chr 3:118,187,636...118,237,403
JBrowse link
G DRD5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr 4:4,189,536...4,193,144
Ensembl chr 4:9,509,094...9,510,527
JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
JBrowse link
G E2F1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604
JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345 RGD:10395348 NCBI chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686
JBrowse link
G ELK1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:40,071,433...40,086,518
Ensembl chr  X:47,967,492...47,982,579
JBrowse link
G EP300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G FAAH fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 1:45,697,173...45,716,629
Ensembl chr 1:47,053,436...47,072,283
JBrowse link
G FAS Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FASLG Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FOXP1 forkhead box P1 ISO mRNA:decreased expression:caudate nucleus (human)
mRNA:decreased expression:striatum (mouse)
RGD PMID:16405510 RGD:11560524 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
JBrowse link
G GIT1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr17:27,185,025...27,201,146
Ensembl chr17:27,706,776...27,717,857
JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GLUL glutamate-ammonia ligase ISO RGD PMID:3159462 PMID:6237280 RGD:10046047 RGD:13524508 NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GPX6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 6:28,317,217...28,330,024
Ensembl chr 6:28,988,742...29,000,265
JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr 6:98,720,430...99,903,582
Ensembl chr 6:103,334,707...103,783,092
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs8057394, rs2650427 (human)
DNA:SNPs: :rs1969060 (human)
RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G GRM5 glutamate metabotropic receptor 5 disease_progression
treatment
ISO RGD PMID:15306259 PMID:23489026 PMID:24282028 PMID:25160573 RGD:13432158 RGD:13432558 RGD:13432561 RGD:13432562 NCBI chr11:83,514,978...84,077,650
Ensembl chr11:87,107,788...87,868,953
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chr2A:42,857,216...42,882,738
Ensembl chr2A:43,704,468...43,729,887
JBrowse link
G HAP1 huntingtin associated protein 1 no_association
onset
ISO DNA:SNP: :rs4523977 (human)
DNA:SNP:multiple
DNA:SNP: :p.T441M (human)
RGD PMID:18192679 PMID:20512606 PMID:22402331 PMID:22698993 PMID:24324398 More... RGD:10401859 RGD:13432575 RGD:13432576 RGD:13432577 RGD:13432578 RGD:13432579 NCBI chr17:15,578,658...15,596,313
Ensembl chr17:15,797,949...15,810,299
JBrowse link
G HDAC1 histone deacetylase 1 ISO mRNA:increased expression:cerebral cortex
protein:increased expression:striatum:
RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex
RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
JBrowse link
G HDAC7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr12:40,913,301...40,950,542
Ensembl chr12:41,789,367...41,825,123
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315
JBrowse link
G HPCA hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524
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:10402386 RGD:10402387 NCBI chr 8:141,055,310...141,078,360
Ensembl chr 8:144,062,137...144,067,866
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152
JBrowse link
G HTT huntingtin treatment
onset
ISO ClinVar Annotator: match by term: HTT-related condition | ClinVar Annotator: match by term: Huntington disease
DNA:repeats:cds:CAG (human)
OMIM
ClinVar
RGD
PMID:8242074 PMID:17940007 PMID:25741868 PMID:26740508 PMID:28492532 RGD:10403026 RGD:10403029 NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730
JBrowse link
G IFT57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr 3:105,287,086...105,348,872
Ensembl chr 3:112,222,128...112,282,069
JBrowse link
G IFT88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204
JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO human protein in a rat model RGD PMID:15371744 PMID:23384443 PMID:25140802 RGD:10045865 RGD:10045870 RGD:12904970 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IL6R interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 3:48,608,902...48,638,185
Ensembl chr 3:49,690,486...49,719,798
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)
RGD PMID:9761455 PMID:19193873 PMID:21145001 RGD:6480685 RGD:6480875 RGD:6483009 NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G KDM5C lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:45,377,609...45,440,025
Ensembl chr  X:53,515,886...53,548,785
JBrowse link
G L1CAM L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G LEP leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LOC100986481 cytochrome c severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549
JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199
JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:36,217,710...36,333,516
Ensembl chr  X:44,042,000...44,157,941
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728
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:18327563 PMID:19646509 RGD:10412311 RGD:10412314 NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727
JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MSH2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
G MTNR1A melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 RGD:9686058 NCBI chr 4:178,693,869...178,720,351
Ensembl chr 4:190,897,192...190,921,677
JBrowse link
G NAPEPLD N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 7:95,074,084...95,123,936
Ensembl chr 7:107,923,960...107,973,269
JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr17:34,934,452...35,121,195 JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
JBrowse link
G NGFR nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
JBrowse link
G NOG noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
JBrowse link
G NPY neuropeptide Y onset
no_association
ISO DNA:SNP: :rs3037354 (human)
DNA:SNP: :rs16147 (human)
mRNA:decreased expression:hypothalamus
RGD PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606 RGD:10433112 RGD:10433553 NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
JBrowse link
G NPY2R neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 4:147,542,551...147,586,397
Ensembl chr 4:159,401,080...159,402,231
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:6770890 RGD:6771173 NCBI chr 7:121,574,061...121,719,604
Ensembl chr 7:134,113,482...134,240,158
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
JBrowse link
G PCP4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr21:26,069,039...26,284,247
Ensembl chr21:39,587,400...39,618,734
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
JBrowse link
G PLCB3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr11:59,608,651...59,626,289
Ensembl chr11:62,953,587...62,971,393
JBrowse link
G POLR2A RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr17:7,516,940...7,546,989
Ensembl chr17:7,502,807...7,532,521
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment
severity
onset
no_association
ISO protein:increased expression:subthalamic nucleus (rat)
protein:increased expression:brain (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
mRNA:decreased expression:caudate nucleus (human)
mRNA:decreased expression:medium spiny neuron (mouse)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
DNA:snps, haplotypes:multiple (human)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
RGD PMID:17018277 PMID:19133136 PMID:20736066 PMID:21211002 PMID:21493629 More... RGD:10053648 RGD:10053650 RGD:10053656 RGD:10053663 RGD:10395289 RGD:10395290 RGD:10395291 RGD:6484259 RGD:6484269 RGD:6770890 RGD:7242018 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chr17:17,652,216...17,662,085
Ensembl chr17:17,868,965...17,878,120
JBrowse link
G PPP1R9A protein phosphatase 1 regulatory subunit 9A ISO mRNA:decreased expression:caudate nucleus
mRNA:decreased expression:striatum(mouse)
RGD PMID:20089533 RGD:10043799 NCBI chr 7:86,863,919...87,251,634
Ensembl chr 7:100,455,357...100,833,220
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
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 RGD:6484534 NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 Ensembl chr16:30,049,806...30,070,469 JBrowse link
G RCAN1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr21:20,889,123...20,987,964
Ensembl chr21:34,258,355...34,267,025
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 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
JBrowse link
G SIRT1 sirtuin 1 ISO protein:decreased expression:frontal cortex
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
RGD PMID:9949199 PMID:18538940 PMID:22179316 RGD:10395240 RGD:9585998 RGD:9586004 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:striatum
mRNA, protein:decreased expression:brain, spinal cord
RGD PMID:16987871 RGD:5686805 NCBI chr10:44,630,006...44,632,419 JBrowse link
G SLC1A2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194 RGD:13432195 NCBI chr11:35,223,811...35,392,799
Ensembl chr11:35,107,920...35,265,878
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 6:43,815,006...43,830,290
Ensembl chr 6:45,099,243...45,113,689
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr20:39,795,659...39,801,864
Ensembl chr20:40,888,560...40,891,853
JBrowse link
G SYNE3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:76,042,983...76,144,273
Ensembl chr14:95,369,440...95,427,737
JBrowse link
G TBP TATA-box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 6:168,714,214...168,732,744
Ensembl chr 6:173,800,240...173,826,909
JBrowse link
G TFAM transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
JBrowse link
G TRIP10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr19:5,772,225...5,784,078
Ensembl chr19:6,693,646...6,705,399
JBrowse link
G TUG1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597
G UCP1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:17055784 PMID:20561979 RGD:10045649 RGD:10045650 NCBI chr 4:132,921,033...132,930,714
Ensembl chr 4:144,230,858...144,240,178
JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
JBrowse link
G XPO5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO OMIM:143100 MouseDO NCBI chr11:19,143,181...19,202,424
Ensembl chr11:19,056,902...19,115,261
JBrowse link
G ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 ISO OMIM:143100 MouseDO NCBI chr12:74,281,716...74,371,885
Ensembl chr12:77,132,723...77,222,509
JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,750,158...3,764,262
Ensembl chr20:3,508,620...3,521,628
JBrowse link
G ADISSP adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,836,066...3,850,936
Ensembl chr20:3,593,404...3,608,267
JBrowse link
G ADRA1D adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:4,242,788...4,271,295
Ensembl chr20:4,040,888...4,068,018
JBrowse link
G AP5S1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 Ensembl chr20:3,659,526...3,664,347 JBrowse link
G ATRN attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,556,445...3,733,322
Ensembl chr20:3,315,278...3,486,628
JBrowse link
G AVP arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,169,094...3,172,900 JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610
JBrowse link
G C21H20orf141 chromosome 21 C20orf141 homolog ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,909,087...2,909,970
Ensembl chr20:2,672,649...2,673,510
JBrowse link
G CDC25B cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
JBrowse link
G CDS2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,146,754...5,218,051
Ensembl chr20:4,939,578...5,002,977
JBrowse link
G CENPB centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,864,902...3,867,790
Ensembl chr20:3,622,529...3,624,329
JBrowse link
G CHGB chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,905,854...5,919,758
Ensembl chr20:5,688,837...5,859,738
JBrowse link
G CPXM1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,888,062...2,894,614
Ensembl chr20:2,651,390...2,661,001
JBrowse link
G CRLS1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:6,003,915...6,037,853
Ensembl chr20:5,786,880...5,820,285
JBrowse link
G DDRGK1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,276,292...3,290,433
Ensembl chr20:3,038,779...3,052,789
JBrowse link
G DNAAF9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,334,937...3,495,391
Ensembl chr20:3,095,697...3,254,388
JBrowse link
G EBF4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,800,909...2,868,157 JBrowse link
G FASTKD5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,232,902...3,246,237 JBrowse link
G FERMT1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:6,063,480...6,120,206
Ensembl chr20:5,856,287...5,902,251
JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,740,538...3,745,601 JBrowse link
G GNRH2P gonadotropin releasing hormone 2 pseudogene ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,130,267...3,132,396 JBrowse link
G GPCPD1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,547,190...5,613,849
Ensembl chr20:5,336,003...5,397,448
JBrowse link
G HSPA12B heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,815,293...3,835,683
Ensembl chr20:3,572,535...3,593,021
JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,766,598...2,772,571
Ensembl chr20:2,529,510...2,535,570
JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
JBrowse link
G LRRN4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:6,037,097...6,052,341
Ensembl chr20:5,820,854...5,834,178
JBrowse link
G LZTS3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,248,955...3,259,932
Ensembl chr20:3,011,611...3,022,573
JBrowse link
G MAVS mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,885,044...3,903,554
Ensembl chr20:3,659,559...3,701,089
JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,945,034...5,993,725
Ensembl chr20:5,729,174...5,775,133
JBrowse link
G MRPS26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,132,569...3,134,896 JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,760,689...2,766,596
Ensembl chr20:2,523,619...2,529,509
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,157,246...3,159,013 JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748
JBrowse link
G PCED1A PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,926,265...2,932,094
Ensembl chr20:2,689,947...2,695,331
JBrowse link
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
JBrowse link
G PRND prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:4,749,111...4,755,647
Ensembl chr20:4,548,403...4,548,933
JBrowse link
G PRNP prion protein (Kanno blood group) susceptibility ISO ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES ClinVar
OMIM
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr20:4,713,616...4,728,847
Ensembl chr20:4,523,155...4,523,916
JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,311,043...5,319,148
Ensembl chr20:5,102,997...5,106,655
JBrowse link
G PTPRA protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,962,701...3,125,282
Ensembl chr20:2,801,905...2,888,195
JBrowse link
G RASSF2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:4,804,802...4,845,633
Ensembl chr20:4,603,414...4,641,529
JBrowse link
G RNF24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,962,944...4,054,318
Ensembl chr20:3,764,059...3,807,533
JBrowse link
G SHLD1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,753,262...5,858,728
Ensembl chr20:5,537,488...5,642,107
JBrowse link
G SIGLEC1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,769,118...3,795,678
Ensembl chr20:3,526,791...3,552,309
JBrowse link
G SLC23A2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:4,874,185...5,024,750
Ensembl chr20:4,670,294...4,790,800
JBrowse link
G SLC4A11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,311,640...3,324,966
Ensembl chr20:3,074,804...3,086,157
JBrowse link
G SMOX spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:4,167,417...4,206,956
Ensembl chr20:3,965,616...4,004,468
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,571,393...2,580,642
Ensembl chr20:2,335,499...2,344,763
JBrowse link
G SPEF1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,858,548...3,863,150
Ensembl chr20:3,615,358...3,619,390
JBrowse link
G STK35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,214,815...2,292,341
Ensembl chr20:1,981,730...1,997,556
JBrowse link
G TGM3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,328,145...2,455,842
Ensembl chr20:2,175,160...2,219,561
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,509,000...2,543,650
Ensembl chr20:2,259,725...2,306,743
JBrowse link
G TMC2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,667,175...2,750,058
Ensembl chr20:2,409,961...2,513,365
JBrowse link
G TMEM230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,119,775...5,133,079
Ensembl chr20:4,882,980...4,925,869
JBrowse link
G TMEM239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,910,478...2,911,850
Ensembl chr20:2,674,024...2,674,700
JBrowse link
G TRMT6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:5,932,217...5,944,930
Ensembl chr20:5,715,015...5,727,726
JBrowse link
G UBOX5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:3,196,189...3,246,238
Ensembl chr20:2,958,062...3,008,905
JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,931,553...2,956,604
Ensembl chr20:2,695,335...2,720,030
JBrowse link
G ZNF343 zinc finger protein 343 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr20:2,591,608...2,644,128
Ensembl chr20:2,357,049...2,367,530
JBrowse link
Huntington's disease-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235
JBrowse link
McLeod syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:28,567,102...29,031,601
Ensembl chr  X:36,200,790...36,662,304
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733
JBrowse link
G DYNLT3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:30,289,242...30,298,033
Ensembl chr  X:37,996,729...38,006,855
JBrowse link
G FAM47A family with sequence similarity 47 member A ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:26,764,406...26,767,087 JBrowse link
G FAM47C family with sequence similarity 47 member C ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:29,991,037...29,995,205 JBrowse link
G LANCL3 LanC like family member 3 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:30,021,481...30,134,830
Ensembl chr  X:37,731,552...37,838,564
JBrowse link
G LOC100982531 cytochrome b-245 heavy chain ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:30,230,394...30,267,379
Ensembl chr  X:37,939,704...37,973,183
JBrowse link
G MAGEB16 MAGE family member B16 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:28,444,872...28,450,693
Ensembl chr  X:36,081,171...36,083,807
JBrowse link
G PRRG1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:29,806,505...29,914,627
Ensembl chr  X:37,433,328...37,541,340
JBrowse link
G TMEM47 transmembrane protein 47 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:27,277,397...27,307,540
Ensembl chr  X:34,810,272...34,836,876
JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome OMIM
ClinVar
PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 More... NCBI chr  X:30,136,046...30,182,541
Ensembl chr  X:37,846,539...37,892,348
JBrowse link
mitochondrial DNA depletion syndrome 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
JBrowse link
neuroacanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Acanthocytosis with neurologic disorder ClinVar PMID:12404112 PMID:21145924 PMID:22777538 PMID:25741868 PMID:26467025 More... NCBI chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8619554 PMID:11761473 NCBI chr  X:30,136,046...30,182,541
Ensembl chr  X:37,846,539...37,892,348
JBrowse link
paroxysmal nonkinesigenic dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAMP angio associated migratory cell protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,523,495...105,529,550
Ensembl chr2B:224,121,531...224,127,369
JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626
JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,487,377...106,494,258
Ensembl chr2B:225,078,322...225,085,205
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643
JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,770,714...106,796,044
Ensembl chr2B:225,361,477...225,386,081
JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,477,007...106,487,249
Ensembl chr2B:225,067,590...225,078,065
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,615,244...105,627,114
Ensembl chr2B:224,213,335...224,223,583
JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,217,926...106,220,444 JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,260,872...106,299,594
Ensembl chr2B:224,854,262...224,892,490
JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,796,215...106,801,081
Ensembl chr2B:225,386,262...225,390,886
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,429,610...106,435,887
Ensembl chr2B:225,022,210...225,028,410
JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,248,236...106,252,081
Ensembl chr2B:224,841,620...224,844,836
JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,658,394...105,664,571
Ensembl chr2B:224,254,460...224,262,000
JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,631,392...106,645,100
Ensembl chr2B:225,221,703...225,247,699
JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,238,933...106,243,499 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,494,214...106,503,001
Ensembl chr2B:225,085,163...225,093,610
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,756,115...106,764,280
Ensembl chr2B:225,346,029...225,354,116
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119
JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
JBrowse link
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
JBrowse link
G MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More...
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567
JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,864,706...105,895,114
Ensembl chr2B:224,461,261...224,490,345
JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 OMIM
ClinVar
PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 More... NCBI chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046
JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,085,299...106,139,298
Ensembl chr2B:224,679,831...224,687,705
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More... Ensembl chr16:30,183,352...30,187,862 JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700
JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916
JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,435,938...106,441,428
Ensembl chr2B:225,028,498...225,034,024
JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,921,875...105,930,034
Ensembl chr2B:224,517,286...224,525,253
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,418,754...106,427,931
Ensembl chr2B:225,011,825...225,020,503
JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910
JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,502,953...106,506,470
Ensembl chr2B:225,093,645...225,098,504
JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583
JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:16199547 PMID:28492532 NCBI chr2B:105,533,578...105,551,969
Ensembl chr2B:224,131,478...224,143,170
JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,801,303...106,807,872
Ensembl chr2B:225,391,343...225,397,937
JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,968,840...106,016,034
Ensembl chr2B:224,563,691...224,610,431
JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,507,842...106,512,155
Ensembl chr2B:225,093,643...225,102,188
JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,708,070...105,826,435
Ensembl chr2B:224,304,520...224,422,228
JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:106,464,364...106,467,217
Ensembl chr2B:225,055,969...225,058,647
JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839
JBrowse link
paroxysmal nonkinesigenic dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLG5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:28492532 NCBI chr10:74,311,249...74,447,312
Ensembl chr10:76,972,573...77,110,115
JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:25741868 PMID:34305802 NCBI chr12:5,027,333...5,037,136
Ensembl chr12:4,950,938...4,952,425
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar
OMIM
PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 More... NCBI chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13586
        Neurologic Manifestations 10058
          Dyskinesias 2179
            choreatic disease 457
              3-methylglutaconic aciduria type 3 3
              Benign Familial Chorea 1
              Brain-Lung-Thyroid Syndrome 174
              Childhood-Onset Chorea with Psychomotor Retardation 1
              Choreoathetosis, Familial Inverted 0
              Huntington's disease + 195
              Huntington's disease-like 2 1
              Remitting Chorea with Nystagmus and Cataracts 0
              chorea gravidarum 0
              mitochondrial DNA depletion syndrome 16B 2
              neuroacanthocytosis + 14
              paroxysmal nonkinesigenic dyskinesia 1 52
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13586
        central nervous system disease 12151
          brain disease 11416
            movement disease 2556
              Dyskinesias 2179
                choreatic disease 457
                  3-methylglutaconic aciduria type 3 3
                  Benign Familial Chorea 1
                  Brain-Lung-Thyroid Syndrome 174
                  Childhood-Onset Chorea with Psychomotor Retardation 1
                  Choreoathetosis, Familial Inverted 0
                  Huntington's disease + 195
                  Huntington's disease-like 2 1
                  Remitting Chorea with Nystagmus and Cataracts 0
                  chorea gravidarum 0
                  mitochondrial DNA depletion syndrome 16B 2
                  neuroacanthocytosis + 14
                  paroxysmal nonkinesigenic dyskinesia 1 52
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
paths to the root