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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:choreatic disease
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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 chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO associated with Rheumatic Fever;DNA:polymorphism (human) RGD PMID:17559688 RGD:5147792 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA-DRB1 MHC class II DLA DRB1 beta chain ISO associated with Rheumatic Fever;DNA:polymorphism (human) RGD PMID:17559688 RGD:5147792 NCBI chr12:2,151,409...2,164,564 JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr28:38,489,635...38,601,800
Ensembl chr28:38,491,047...38,602,022
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 chr11:64,281,466...64,298,319
Ensembl chr11:64,281,892...64,292,418
JBrowse link
G GLRX3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr28:38,724,895...38,755,323
Ensembl chr28:38,724,941...38,755,316
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 chr 2:59,805,675...59,980,782
Ensembl chr 2:59,806,689...59,980,398
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 8:14,883,317...14,908,664
Ensembl chr 8:14,886,638...14,908,610
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 8:15,709,214...16,036,956
Ensembl chr 8:15,774,974...16,077,325
JBrowse link
G NKX2-1 NK2 homeobox 1 susceptibility ISO ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
DNA:transition: ; 745C>T
OMIM
ClinVar
RGD
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 chr 8:15,149,318...15,151,884
Ensembl chr 8:15,149,308...15,151,661
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391
JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:32467598 NCBI chr21:25,542,030...25,635,661
Ensembl chr21:25,542,268...25,635,660
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP Dyskinesia, paroxysmal, PIGN-related OMIA PMID:15474685 PMID:27891564 PMID:28703446 PMID:33769611 PMID:36086931 More... NCBI chr 1:14,684,026...14,791,221
Ensembl chr 1:14,685,694...14,805,691
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 8:15,239,634...15,708,964
Ensembl chr 8:15,238,719...15,708,526
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO choreoacanthocytosis, OMIM:200150 RGD PMID:11381253 RGD:1599747 NCBI chr 1:81,191,125...81,426,337
Ensembl chr 1:81,192,349...81,426,322
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 chr34:14,199,507...14,204,736
Ensembl chr34:14,199,675...14,204,687
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 chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
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:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)
DNA:nonsense mutation:exon 2:p.S145X (c.609C>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 chr 8:2,997,112...3,011,524
Ensembl chr 8:2,997,202...3,011,056
JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,370,469...3,405,710
Ensembl chr 8:3,371,004...3,405,682
JBrowse link
G ADCY4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,288,708...4,304,092
Ensembl chr 8:4,288,714...4,304,589
JBrowse link
G AJUBA ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,272,408...3,302,179
Ensembl chr 8:3,272,405...3,301,708
JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:11,403,655...11,882,684
Ensembl chr 8:11,406,280...11,874,406
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 chr 8:3,785,085...3,793,081
Ensembl chr 8:3,629,585...3,792,725
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 chr 8:10,342,988...10,397,171
Ensembl chr 8:10,343,510...10,397,175
JBrowse link
G ARF6 ADP ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,445,407...26,449,430
Ensembl chr 8:26,445,647...26,525,530
JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:11,190,663...11,269,353
Ensembl chr 8:11,204,696...11,267,086
JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,161,418...18,178,325
Ensembl chr15:18,160,835...18,179,029
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 chr 8:13,604,694...13,694,508
Ensembl chr 8:13,605,182...13,693,847
JBrowse link
G BCL2L2 BCL2 like 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,569,335...3,573,922
Ensembl chr 8:3,569,399...3,586,070
JBrowse link
G BRMS1L BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:14,487,055...14,517,613
Ensembl chr 8:14,487,086...14,516,264
JBrowse link
G C8H14orf28 chromosome 8 C14orf28 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:22,366,822...22,378,411
Ensembl chr 8:22,369,790...22,375,025
JBrowse link
G C8H14orf93 chromosome 8 C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,305,532...3,316,072
Ensembl chr 8:3,305,751...3,316,079
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 chr 8:4,059,154...4,076,385
Ensembl chr 8:4,059,133...4,076,396
JBrowse link
G CBLN3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,399,188...4,402,478
Ensembl chr 8:4,400,462...4,401,754
JBrowse link
G CDH24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,359,452...3,369,590
Ensembl chr 8:3,359,875...3,367,942
JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,423,046...3,425,595
Ensembl chr 8:3,423,040...3,425,217
JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:13,578,152...13,582,408
Ensembl chr 8:13,580,360...13,582,442
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,430,601...18,492,564
Ensembl chr15:18,431,019...18,491,920
JBrowse link
G CHMP4A charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,195,766...4,200,101
Ensembl chr 8:4,195,975...4,200,086
JBrowse link
G CIDEB cell death inducing DFFA like effector b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,275,700...4,278,612 JBrowse link
G CLEC14A C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:16,609,425...16,612,772
Ensembl chr 8:16,611,240...16,612,709
JBrowse link
G CMA1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189
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 chr 8:3,625,246...3,627,964
Ensembl chr 8:3,625,309...3,661,444
JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,078,240...4,084,744
Ensembl chr 8:4,046,544...4,084,744
JBrowse link
G CTSG cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,483,327...4,485,933
Ensembl chr 8:4,470,577...4,512,628
JBrowse link
G DAD1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:2,963,719...2,984,978 JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,115,756...4,124,329
Ensembl chr 8:4,116,912...4,123,596
JBrowse link
G DHRS1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,263,707...4,269,453
Ensembl chr 8:4,263,700...4,270,271
JBrowse link
G DHRS2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,820,269...3,847,217
Ensembl chr 8:3,836,476...3,845,916
JBrowse link
G DHRS4 hydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,046,532...4,058,498
Ensembl chr 8:4,046,544...4,084,744
JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:10,694,999...10,706,155
Ensembl chr 8:10,696,505...10,706,060
JBrowse link
G EAPP E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:13,316,239...13,399,221
Ensembl chr 8:13,375,980...13,399,173
JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,017,182...18,020,521 JBrowse link
G EFS embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,600,597...3,612,563
Ensembl chr 8:3,600,589...3,613,947
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 chr 8:12,873,755...12,901,728
Ensembl chr 8:12,875,387...12,901,709
JBrowse link
G EMC9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,133,997...4,136,144
Ensembl chr 8:4,134,020...4,136,290
JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:13,844,565...13,862,619
Ensembl chr 8:13,844,685...13,860,889
JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
JBrowse link
G FBXO33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:17,495,795...17,528,389
Ensembl chr 8:17,462,937...17,528,249
JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,127,148...4,128,779
Ensembl chr 8:4,127,488...4,128,794
JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:22,550,241...22,560,501
Ensembl chr 8:22,550,413...22,560,465
JBrowse link
G FOXA1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807
JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:8,276,300...8,279,785 JBrowse link
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:22,004,599...22,033,057
Ensembl chr 8:22,004,789...22,007,425
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 chr 8:9,914,276...9,968,798
Ensembl chr 8:9,914,008...9,965,623
JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:17,305,884...17,328,698
Ensembl chr 8:17,305,907...17,328,582
JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,213,238...4,220,740
Ensembl chr 8:4,213,373...4,220,740
JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:10,718,470...10,720,029
Ensembl chr 8:10,719,010...10,720,029
JBrowse link
G GZMB granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,508,718...4,511,824
Ensembl chr 8:4,470,577...4,512,628
JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:10,561,723...10,673,506
Ensembl chr 8:10,562,425...10,658,597
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 chr 8:10,399,183...10,493,074
Ensembl chr 8:10,400,604...10,491,247
JBrowse link
G HOMEZ homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,545,434...3,558,923
Ensembl chr 8:3,545,472...3,558,440
JBrowse link
G IL25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043
JBrowse link
G INSM2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:14,217,694...14,220,661
Ensembl chr 8:14,217,785...14,219,458
JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,171,525...4,180,666
Ensembl chr 8:4,171,527...4,181,151
JBrowse link
G IRF9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,152,146...4,157,201 JBrowse link
G JPH4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,793,413...3,803,831
Ensembl chr 8:3,794,734...3,802,082
JBrowse link
G KHNYN KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,402,719...4,411,688
Ensembl chr 8:4,403,201...4,411,598
JBrowse link
G KLHDC1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,305,675...26,347,638
Ensembl chr 8:26,305,531...26,347,407
JBrowse link
G KLHDC2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,353,986...26,365,077
Ensembl chr 8:26,353,871...26,364,914
JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:22,387,057...22,420,491
Ensembl chr 8:22,391,451...22,405,141
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,721,501...26,760,411
Ensembl chr 8:26,723,309...26,760,984
JBrowse link
G LOC106559796 uncharacterized LOC106559796 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,024,375...18,025,871 JBrowse link
G LOC475395 ribonuclease pancreatic-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,034,337...18,065,925
Ensembl chr15:18,037,298...18,066,333
JBrowse link
G LOC475399 heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,239,810...18,299,065 JBrowse link
G LOC480264 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,200,466...4,201,945
Ensembl chr 8:4,200,472...4,201,950
JBrowse link
G LOC607014 uncharacterized protein C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr33:16,805,934...16,806,688 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 chr 8:19,365,786...19,602,551
Ensembl chr 8:19,367,570...19,602,185
JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,208,710...3,214,888
Ensembl chr 8:3,208,269...3,382,311
JBrowse link
G LRR1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,229,293...26,241,617
Ensembl chr 8:26,229,018...26,240,716
JBrowse link
G LTB4R leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,282,924...4,286,869
Ensembl chr 8:4,285,323...4,286,534
JBrowse link
G LTB4R2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,278,047...4,282,326
Ensembl chr 8:4,280,869...4,281,948
JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:14,883,317...14,908,664
Ensembl chr 8:14,886,638...14,908,610
JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:23,827,284...24,608,003
Ensembl chr 8:23,832,475...24,607,866
JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,094,731...18,099,161 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 chr15:18,528,755...18,546,303
Ensembl chr15:18,528,772...18,546,531
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 chr 8:26,244,894...26,247,960
Ensembl chr 8:26,245,407...26,246,747
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 chr 8:17,390,738...17,482,421 JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:15,709,214...16,036,956
Ensembl chr 8:15,774,974...16,077,325
JBrowse link
G MIR208A microRNA mir-208a ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,636,919...3,636,987
Ensembl chr 8:3,636,919...3,636,987
JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,665,163...3,665,236
Ensembl chr 8:3,665,163...3,665,236
JBrowse link
G MIS18BP1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:22,626,082...22,673,550
Ensembl chr 8:22,525,301...22,668,507
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,177,010...3,181,526
Ensembl chr 8:3,177,093...3,181,518
JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,106,651...18,115,026
Ensembl chr15:18,106,654...18,113,970
JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,202,621...4,213,090
Ensembl chr 8:4,202,621...4,213,049
JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,364,664...26,411,475
Ensembl chr 8:26,364,838...26,411,424
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 chr 8:4,337,098...4,346,409
Ensembl chr 8:4,336,450...4,346,100
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
JBrowse link
G NGDN neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,704,430...3,713,517
Ensembl chr 8:3,705,005...3,713,517
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 chr 8:15,149,318...15,151,884
Ensembl chr 8:15,149,308...15,151,661
JBrowse link
G NOP9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,270,192...4,275,722
Ensembl chr 8:4,270,243...4,275,677
JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:6,133,608...6,281,508
Ensembl chr 8:6,135,679...6,281,384
JBrowse link
G NPAS3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:11,959,895...12,799,448 JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,086,487...4,090,373
Ensembl chr 8:4,086,508...4,089,216
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 chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920
JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,368,702...4,389,565
Ensembl chr 8:4,368,560...4,387,842
JBrowse link
G OR4H12 olfactory receptor family 4 subfamily H member 12 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:17,321,371...17,322,875
Ensembl chr15:17,321,380...17,322,309
JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,108,669...3,132,337
Ensembl chr 8:3,108,757...3,132,334
JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,580,768...3,585,546
Ensembl chr 8:3,569,399...3,586,070
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,099,016...4,107,870
Ensembl chr 8:4,098,671...4,107,865
JBrowse link
G PNN pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:17,354,004...17,361,462
Ensembl chr 8:17,354,004...17,361,462
JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,264,220...26,295,089
Ensembl chr 8:26,251,160...26,295,317
JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,559,296...3,564,849
Ensembl chr 8:3,563,457...3,564,524
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 chr 8:13,863,017...13,885,245
Ensembl chr 8:13,863,380...13,885,130
JBrowse link
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:9,004,641...9,327,054
Ensembl chr 8:9,005,115...9,328,358
JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:13,885,734...14,007,224 JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:22,510,816...22,549,481
Ensembl chr 8:22,511,329...22,549,226
JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:14,010,899...14,038,141
Ensembl chr 8:14,010,939...14,038,134
JBrowse link
G PSMB11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,355,239...3,356,505 JBrowse link
G PSMB5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,344,157...3,349,921
Ensembl chr 8:3,344,233...3,349,926
JBrowse link
G PSME1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,131,197...4,134,001
Ensembl chr 8:4,131,345...4,134,006
JBrowse link
G PSME2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,137,247...4,141,380
Ensembl chr 8:4,137,247...4,140,706
JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,494,417...18,512,144
Ensembl chr15:18,495,891...18,512,030
JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,244,731...4,250,836
Ensembl chr 8:4,244,781...4,250,744
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 chr 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998
JBrowse link
G RBM23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,233,715...3,247,014
Ensembl chr 8:3,234,859...3,246,981
JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,165,637...4,171,488
Ensembl chr 8:4,165,879...4,171,486
JBrowse link
G REM2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,215,023...3,223,470
Ensembl chr 8:3,208,269...3,382,311
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325
JBrowse link
G RN7SL1 RNA, 7SL, cytoplasmic 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,223,712...26,224,010
Ensembl chr 8:26,223,712...26,224,011
JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,122,227...18,123,978
Ensembl chr15:18,122,946...18,123,719
JBrowse link
G RNASE4 ribonuclease, RNase A family, 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631
JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,509,481...3,552,600
Ensembl chr 8:3,509,638...3,544,740
JBrowse link
G RNF31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,141,501...4,151,999 JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735
JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:23,671,961...23,673,085
Ensembl chr 8:23,672,388...23,673,032
JBrowse link
G RPL36AL ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,243,619...26,244,780
Ensembl chr 8:26,243,617...26,245,386
JBrowse link
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,221,546...26,223,580 JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,558,181...18,571,941
Ensembl chr15:18,558,178...18,561,547
JBrowse link
G SCFD1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:9,970,724...10,077,123
Ensembl chr 8:9,970,790...10,077,122
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 chr 8:4,412,944...4,416,013
Ensembl chr 8:4,412,951...4,416,013
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 chr 8:17,205,960...17,292,067
Ensembl chr 8:17,234,394...17,292,638
JBrowse link
G SLC22A17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,594,572...3,600,380
Ensembl chr 8:3,594,572...3,600,286
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:15,239,634...15,708,964
Ensembl chr 8:15,238,719...15,708,526
JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,099,310...18,102,884
Ensembl chr15:18,100,785...18,102,896
JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985
JBrowse link
G SNX6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:13,460,676...13,520,282
Ensembl chr 8:13,460,947...13,520,423
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 chr 8:26,636,849...26,698,837
Ensembl chr 8:26,637,895...26,717,781
JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:13,800,275...13,837,799
Ensembl chr 8:13,677,760...13,837,722
JBrowse link
G SSTR1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:16,571,069...16,575,730 JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:10,232,436...10,344,238
Ensembl chr 8:10,233,819...10,344,033
JBrowse link
G STXBP6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,638,376...4,877,589
Ensembl chr 8:4,641,460...4,877,030
JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,387,624...18,429,553
Ensembl chr15:18,388,512...18,429,553
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
JBrowse link
G THTPA thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,781,931...3,785,093
Ensembl chr 8:3,782,163...3,785,394
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,180,496...4,186,249 JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,187,622...18,194,700
Ensembl chr15:18,187,616...18,193,427
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 chr 8:22,420,718...22,499,435
Ensembl chr 8:22,420,584...22,497,671
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 chr15:18,512,270...18,528,293
Ensembl chr15:18,512,327...18,528,516
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 chr15:18,118,516...18,126,661
Ensembl chr15:18,119,594...18,126,663
JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:17,335,060...17,350,163
Ensembl chr 8:17,336,154...17,350,000
JBrowse link
G TSSK4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:4,192,060...4,195,052
Ensembl chr 8:4,192,230...4,194,685
JBrowse link
G TTC6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:16,177,345...16,282,540
Ensembl chr 8:16,108,988...16,282,207
JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:26,611,333...26,636,700
Ensembl chr 8:26,625,677...26,636,316
JBrowse link
G ZFHX2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 8:3,750,043...3,782,679
Ensembl chr 8:3,750,230...3,763,829
JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:18,178,861...18,186,650
Ensembl chr15:18,180,901...18,192,773
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 6:49,473,399...49,478,504
Ensembl chr 6:49,475,536...49,476,669
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 1:80,992,992...81,178,362
Ensembl chr 1:80,992,863...81,177,674
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 chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
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 1:81,191,125...81,426,337
Ensembl chr 1:81,192,349...81,426,322
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 chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
JBrowse link
G ACHE acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
JBrowse link
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292
JBrowse link
G ATF5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 1:106,631,711...106,636,477
Ensembl chr 1:106,632,353...106,636,502
JBrowse link
G ATRX ATRX chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980
JBrowse link
G BAG1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041 RGD:10054048 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCHE butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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 chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:10413886 RGD:13432082 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CASP8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CASP9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:
RGD PMID:12095160 RGD:13432083 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
JBrowse link
G CAT catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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 chr 1:118,846,252...118,851,045 JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656
JBrowse link
G CHAT choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr28:1,480,364...1,528,858
Ensembl chr28:1,482,202...1,528,776
JBrowse link
G CIB1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
JBrowse link
G CNR2 cannabinoid receptor 2 ISO RGD PMID:19115380 RGD:2316196 NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126
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 chr18:37,758,148...37,765,698 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 chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
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 chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CTSH cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718
JBrowse link
G CYCS cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr14:38,579,446...38,581,983
Ensembl chr14:38,579,446...38,581,983
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308
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 chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126
JBrowse link
G DNAH6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr17:40,134,143...40,366,419
Ensembl chr17:40,134,493...40,366,442
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 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287
JBrowse link
G DRD2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414 RGD:7248682 NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
JBrowse link
G DRD5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr 3:69,621,187...69,623,522
Ensembl chr 3:69,621,734...69,623,893
JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
JBrowse link
G E2F1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656
JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345 RGD:10395348 NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933
JBrowse link
G ELK1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:41,256,205...41,270,656
Ensembl chr  X:41,257,482...41,270,776
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G FAAH fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr15:14,023,111...14,040,156
Ensembl chr15:14,023,299...14,040,212
JBrowse link
G FAS Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G FOXP1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:16405510 RGD:11560524 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G GIT1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr 9:43,676,707...43,686,566
Ensembl chr 9:43,677,899...43,693,177
JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G GLUL glutamate-ammonia ligase ISO RGD PMID:3159462 PMID:6237280 RGD:10046047 RGD:13524508 NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241
JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GPX6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr35:25,620,843...25,630,288
Ensembl chr35:25,620,111...25,631,062
JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408
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 chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
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 chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G GRM5 glutamate metabotropic receptor 5 treatment
disease_progression
ISO RGD PMID:15306259 PMID:23489026 PMID:24282028 PMID:25160573 RGD:13432158 RGD:13432558 RGD:13432561 RGD:13432562 NCBI chr21:10,980,186...11,496,539
Ensembl chr21:10,996,075...11,493,290
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160
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 chr 9:21,065,770...21,074,462
Ensembl chr 9:21,065,846...21,072,991
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 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
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 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G HDAC7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr27:6,941,287...6,968,370
Ensembl chr27:6,929,829...6,979,317
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
JBrowse link
G HPCA hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310
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 chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
JBrowse link
G HTT huntingtin onset
treatment
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 3:61,076,934...61,221,462
Ensembl chr 3:61,079,904...61,330,290
JBrowse link
G IFT57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr33:13,432,902...13,486,692
Ensembl chr33:13,410,544...13,486,612
JBrowse link
G IFT88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
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 chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL6R interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804
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 chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
JBrowse link
G KDM5C lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:44,921,271...44,953,338
Ensembl chr  X:44,921,816...44,952,616
JBrowse link
G L1CAM L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
JBrowse link
G LEP leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like ISO RGD PMID:26268247 RGD:13792684 NCBI chr  X:51,925,654...51,926,724 JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:37,765,810...37,883,955
Ensembl chr  X:37,765,813...37,883,955
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 treatment
onset
ISO protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human)
RGD PMID:18327563 PMID:19646509 RGD:10412311 RGD:10412314 NCBI chr 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503
JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
JBrowse link
G MIR132 microRNA mir-132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr 9:46,153,531...46,153,590
Ensembl chr 9:46,153,511...46,153,611
JBrowse link
G MIR22 microRNA mir-22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr 9:45,852,534...45,852,593
Ensembl chr 9:45,852,517...45,852,609
JBrowse link
G MIR222 microRNA mir-222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:39,524,519...39,524,608
Ensembl chr  X:39,524,519...39,524,608
JBrowse link
G MIR29C-1 microRNA mir-29c-1 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr 7:6,588,010...6,588,067 JBrowse link
G MIR448 microRNA mir-448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:87,558,063...87,558,172
Ensembl chr  X:87,558,063...87,558,172
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MSH2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II severity ISO RGD PMID:20660112 RGD:13506651 NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO RGD PMID:20480544 RGD:5687693 NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842
JBrowse link
G MTNR1A melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 RGD:9686058 NCBI chr16:44,258,239...44,286,761 JBrowse link
G NAPEPLD N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr18:16,945,096...16,990,752
Ensembl chr18:16,945,253...17,009,607
JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr 5:39,687,530...39,837,003
Ensembl chr 5:39,687,543...39,836,464
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703
JBrowse link
G NGFR nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
JBrowse link
G NOG noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr 9:31,453,604...31,456,060 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 chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443
JBrowse link
G NPY2R neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr15:52,790,136...52,797,785
Ensembl chr15:52,794,671...52,795,818
JBrowse link
G NRF1 nuclear respiratory factor 1 onset ISO DNA:SNPs: :rs6949152, rs7781972 (human)
mRNA:decreased expression:striatum
RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr14:7,085,018...7,218,802
Ensembl chr14:7,085,791...7,193,034
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
JBrowse link
G PCP4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr31:34,529,688...34,584,497
Ensembl chr31:34,529,683...34,584,501
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809
JBrowse link
G PLCB3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr18:52,793,848...52,809,065
Ensembl chr18:52,793,838...52,809,070
JBrowse link
G POLR2A RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr 5:32,403,814...32,429,717
Ensembl chr 5:32,403,829...32,429,681
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment
onset
severity
no_association
ISO mRNA:decreased expression:medium spiny neuron (mouse)
protein:increased expression:subthalamic nucleus (rat)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
protein:increased expression:brain (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
mRNA:decreased expression:caudate nucleus (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 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chr 9:22,838,198...22,847,924
Ensembl chr 9:22,838,576...22,848,142
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 chr14:20,251,791...20,563,315
Ensembl chr14:20,251,738...20,557,208
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 NCBI chr 6:17,778,664...17,794,110
Ensembl chr 6:17,779,439...17,794,035
JBrowse link
G RCAN1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418
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 chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr30:38,231,844...38,306,665
Ensembl chr30:38,232,680...38,382,635
JBrowse link
G SIRT1 sirtuin 1 ISO human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex
RGD PMID:9949199 PMID:18538940 PMID:22179316 RGD:10395240 RGD:9585998 RGD:9586004 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
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 chr28:1,476,873...1,478,538
Ensembl chr28:1,476,774...1,478,505
JBrowse link
G SLC1A2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194 RGD:13432195 NCBI chr18:32,565,258...32,717,052
Ensembl chr18:32,565,258...32,709,225
JBrowse link
G SLC29A1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr12:12,632,233...12,644,669
Ensembl chr12:12,634,194...12,644,667
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr24:31,217,190...31,222,852
Ensembl chr24:31,217,184...31,218,618
JBrowse link
G SYNE3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 8:64,277,233...64,365,852
Ensembl chr 8:64,281,549...64,366,293
JBrowse link
G TBP TATA-box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124
JBrowse link
G TFAM transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TRIP10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr20:53,543,861...53,554,421
Ensembl chr20:53,544,005...53,554,270
JBrowse link
G TUG1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr26:23,993,804...24,003,508 JBrowse link
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 chr19:2,254,881...2,289,902 JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
JBrowse link
G XPO5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr12:11,983,071...12,034,441
Ensembl chr12:11,983,646...12,034,688
JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO RGD PMID:12586550 RGD:13432192 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO OMIM:143100 MouseDO NCBI chr21:41,243,214...41,292,458
Ensembl chr21:41,243,294...41,291,995
JBrowse link
G ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 ISO OMIM:143100 MouseDO NCBI chr15:19,631,719...19,727,089
Ensembl chr15:19,499,445...19,724,341
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 chr24:17,668,377...17,682,217
Ensembl chr24:17,668,500...17,681,209
JBrowse link
G ADISSP adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,586,111...17,600,147
Ensembl chr24:17,586,782...17,599,696
JBrowse link
G ADRA1D adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,231,771...17,239,110
Ensembl chr24:17,213,643...17,214,761
Ensembl chr24:17,213,643...17,214,761
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 NCBI chr24:17,537,539...17,543,834
Ensembl chr24:17,537,544...17,543,901
JBrowse link
G ATRN attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,698,238...17,859,810
Ensembl chr24:17,702,282...17,859,737
JBrowse link
G AVP arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217
JBrowse link
G C24H20orf141 chromosome 24 C20orf141 homolog ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,444,215...18,446,862
Ensembl chr24:18,445,972...18,446,744
JBrowse link
G CDC25B cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759
JBrowse link
G CDS2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:16,407,869...16,469,855
Ensembl chr24:16,414,682...16,469,759
JBrowse link
G CENPB centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,569,440...17,572,311
Ensembl chr24:17,569,663...17,572,127
JBrowse link
G CHGB chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:15,917,215...15,930,222
Ensembl chr24:15,917,215...15,930,158
JBrowse link
G CPXM1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,453,874...18,460,350
Ensembl chr24:18,453,712...18,461,738
JBrowse link
G CRLS1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:15,814,111...15,837,485
Ensembl chr24:15,814,770...15,893,458
JBrowse link
G DDRGK1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,085,865...18,098,868
Ensembl chr24:18,084,725...18,097,157
JBrowse link
G DNAAF9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,908,665...18,050,002
Ensembl chr24:17,908,741...18,048,116
JBrowse link
G EBF4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,469,862...18,528,305
Ensembl chr24:18,470,952...18,528,622
JBrowse link
G FASTKD5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,124,249...18,136,415
Ensembl chr24:18,133,738...18,136,167
JBrowse link
G FERMT1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:15,748,632...15,785,025
Ensembl chr24:15,748,629...15,782,880
JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,685,888...17,690,747
Ensembl chr24:17,686,817...17,690,056
JBrowse link
G GNRH2P gonadotropin releasing hormone 2 pseudogene ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,217,294...18,222,755 JBrowse link
G GPCPD1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:16,153,622...16,203,155
Ensembl chr24:16,148,035...16,220,757
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 chr24:17,600,541...17,619,902
Ensembl chr24:17,600,889...17,619,978
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 chr24:18,556,437...18,561,399
Ensembl chr24:18,556,508...18,561,391
JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G LRRN4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:15,801,220...15,810,954
Ensembl chr24:15,803,125...15,810,930
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 chr24:18,111,188...18,122,246
Ensembl chr24:18,117,723...18,120,428
JBrowse link
G MAVS mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,510,209...17,529,286
Ensembl chr24:17,512,761...17,523,807
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 chr24:15,850,602...15,893,452
Ensembl chr24:15,814,770...15,893,458
JBrowse link
G MIR103-2 microRNA mir-103-2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,468,354...17,468,430
Ensembl chr24:17,468,355...17,468,434
JBrowse link
G MRPS26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,215,055...18,216,993
Ensembl chr24:18,215,055...18,217,333
JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,561,407...18,566,770
Ensembl chr24:18,561,408...18,566,719
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170
JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360
JBrowse link
G PCED1A PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,424,936...18,429,698
Ensembl chr24:18,424,901...18,429,652
JBrowse link
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
JBrowse link
G PRND prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:16,822,807...16,828,473
Ensembl chr24:16,825,655...16,826,191
JBrowse link
G PRNP prion protein 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 chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815
JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:16,351,912...16,364,139
Ensembl chr24:16,351,806...16,375,217
JBrowse link
G PTPRA protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,224,355...18,395,650
Ensembl chr24:18,224,801...18,296,350
JBrowse link
G RASSF2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:16,736,786...16,779,910
Ensembl chr24:16,736,962...16,781,569
JBrowse link
G RNF24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,378,996...17,459,249
Ensembl chr24:17,405,328...17,454,790
JBrowse link
G SHLD1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:15,957,863...16,037,336
Ensembl chr24:15,957,852...16,038,008
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 chr24:17,636,143...17,667,791
Ensembl chr24:17,636,026...17,666,854
JBrowse link
G SLC23A2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:16,573,616...16,709,296
Ensembl chr24:16,574,168...16,709,296
JBrowse link
G SLC4A11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,057,437...18,068,420
Ensembl chr24:18,057,517...18,068,425
JBrowse link
G SMOX spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,240,910...17,291,258
Ensembl chr24:17,252,537...17,300,451
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 chr24:18,673,975...18,683,315
Ensembl chr24:18,674,039...18,683,229
JBrowse link
G SPEF1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:17,572,457...17,580,006
Ensembl chr24:17,574,741...17,578,439
JBrowse link
G STK35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,913,746...18,958,240
Ensembl chr24:18,753,651...18,958,221
JBrowse link
G TGM3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,753,638...18,793,780
Ensembl chr24:18,753,651...18,958,221
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
JBrowse link
G TMC2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,576,966...18,642,204
Ensembl chr24:18,578,138...18,642,198
JBrowse link
G TMEM230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:16,486,514...16,496,180
Ensembl chr24:16,486,574...16,495,491
JBrowse link
G TMEM239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,444,215...18,445,838
Ensembl chr24:18,444,918...18,445,376
JBrowse link
G TRMT6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:15,836,359...15,905,147
Ensembl chr24:15,893,335...15,903,889
JBrowse link
G UBOX5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,124,237...18,166,506
Ensembl chr24:18,157,429...18,165,966
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 chr24:18,401,440...18,424,605
Ensembl chr24:18,399,572...18,424,510
JBrowse link
G ZNF343 zinc finger protein 343 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr24:18,659,505...18,665,685 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 chr 5:65,445,329...65,530,288
Ensembl chr 5:65,451,050...65,530,294
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:30,880,335...31,390,675 JBrowse link
G CYBB cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:32,533,365...32,568,149
Ensembl chr  X:32,533,320...32,568,217
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:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
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:32,603,881...32,611,213
Ensembl chr  X:32,603,945...32,611,542
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:32,349,007...32,452,130
Ensembl chr  X:32,349,269...32,443,254
JBrowse link
G LOC100856762 melanoma-associated antigen B16-like ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:30,061,692...30,064,909 JBrowse link
G LOC491820 family with sequence similarity 47, member E pseudogene ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:31,903,084...31,904,488 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:31,856,586...32,141,855
Ensembl chr  X:31,870,092...32,138,147
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:29,675,386...29,705,941
Ensembl chr  X:29,675,387...29,705,941
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:32,453,404...32,498,145
Ensembl chr  X:32,453,570...32,495,110
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 chr 9:12,251,085...12,266,608
Ensembl chr 9:12,251,186...12,266,605
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 chr 9:12,258,188...12,298,376
Ensembl chr 9:12,269,990...12,298,272
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 1:81,191,125...81,426,337
Ensembl chr 1:81,192,349...81,426,322
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:32,453,404...32,498,145
Ensembl chr  X:32,453,570...32,495,110
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 chr37:24,943,660...24,948,589
Ensembl chr37:24,937,081...24,948,529
JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841
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 chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887
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 chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824
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 chr37:26,024,136...26,048,060
Ensembl chr37:26,024,947...26,048,077
JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688
JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263
JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885
JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,048,236...26,052,871
Ensembl chr37:26,025,993...26,052,806
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627
JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284
JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 ClinVar PMID:28492532 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
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 chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
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 chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144
JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224
JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,548,578...25,552,092 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,010,531...26,017,798
Ensembl chr37:26,010,638...26,017,787
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421
JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,616,942...25,622,989 JBrowse link
G MIR26B microRNA mir-26b ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,054,488...25,054,543 JBrowse link
G MIR375 microRNA mir-375 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127
JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488
JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914
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 chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144
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 chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961
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... NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931
JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808
JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831
JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601
JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587
JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512
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 chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137
JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:26,053,469...26,059,579
Ensembl chr37:26,052,168...26,058,810
JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512
JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892
JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503
JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132
JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296
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 chr 4:27,687,223...27,780,007
Ensembl chr 4:27,687,287...27,806,722
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 chr27:39,928,347...39,936,753
Ensembl chr27:39,933,825...39,935,312
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 chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        Neurologic Manifestations 9992
          Dyskinesias 2169
            choreatic disease 458
              3-methylglutaconic aciduria type 3 2
              Benign Familial Chorea 1
              Brain-Lung-Thyroid Syndrome 169
              Childhood-Onset Chorea with Psychomotor Retardation 1
              Choreoathetosis, Familial Inverted 0
              Huntington's disease + 203
              Huntington's disease-like 2 1
              Remitting Chorea with Nystagmus and Cataracts 0
              chorea gravidarum 0
              mitochondrial DNA depletion syndrome 16B 2
              neuroacanthocytosis + 13
              paroxysmal nonkinesigenic dyskinesia 1 51
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
Path 2
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        central nervous system disease 12072
          brain disease 11337
            movement disease 2552
              Dyskinesias 2169
                choreatic disease 458
                  3-methylglutaconic aciduria type 3 2
                  Benign Familial Chorea 1
                  Brain-Lung-Thyroid Syndrome 169
                  Childhood-Onset Chorea with Psychomotor Retardation 1
                  Choreoathetosis, Familial Inverted 0
                  Huntington's disease + 203
                  Huntington's disease-like 2 1
                  Remitting Chorea with Nystagmus and Cataracts 0
                  chorea gravidarum 0
                  mitochondrial DNA depletion syndrome 16B 2
                  neuroacanthocytosis + 13
                  paroxysmal nonkinesigenic dyskinesia 1 51
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
paths to the root