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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.


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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 chrNW_004624730:4,211,189...4,346,119
Ensembl chrNW_004624730:4,212,901...4,345,849
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chrNW_004624737:17,069,676...17,201,481
Ensembl chrNW_004624737:17,078,683...17,201,536
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 chrNW_004624758:2,365,246...2,392,699
Ensembl chrNW_004624758:2,365,096...2,387,735
JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chrNW_004624737:16,906,135...16,938,089
Ensembl chrNW_004624737:16,905,964...16,938,048
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 chrNW_004624757:178,616...346,443 JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624802:10,375,132...10,409,575
Ensembl chrNW_004624802:10,375,774...10,409,566
JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain ISO associated with Rheumatic Fever;DNA:polymorphism (human) RGD PMID:17559688 RGD:5147792 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004624838:508,660...527,306
Ensembl chrNW_004624838:508,732...528,161
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889
JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004624955:24,761...201,529 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 NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517
JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004624838:227,941...234,431
Ensembl chrNW_004624838:228,153...229,728
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004624838:129,725...147,572
Ensembl chrNW_004624838:133,476...149,636
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004624902:2,354,109...2,502,478
Ensembl chrNW_004624902:2,354,856...2,502,527
JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:32467598 NCBI chrNW_004624817:4,269,422...4,367,576
Ensembl chrNW_004624817:4,269,347...4,369,486
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis class N ISO Dyskinesia, paroxysmal, PIGN-related OMIA PMID:15474685 PMID:27891564 PMID:28703446 PMID:33769611 PMID:36086931 More... NCBI chrNW_004624792:7,713,042...7,916,177
Ensembl chrNW_004624792:7,712,113...7,916,160
JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004624838:68,999...129,463
Ensembl chrNW_004624838:75,767...128,843
JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO choreoacanthocytosis, OMIM:200150 RGD PMID:11381253 RGD:1599747 NCBI chrNW_004624811:4,639,926...4,902,749
Ensembl chrNW_004624811:4,640,090...4,901,510
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 chrNW_004624730:58,746,824...58,755,544
Ensembl chrNW_004624730:58,730,413...58,755,688
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 chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM
ClinVar
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chrNW_004624832:7,580,402...7,619,122
Ensembl chrNW_004624832:7,580,823...7,605,443
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:splice-site mutation:intron:c.464-9C>A (human)
DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)
DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)
RGD PMID:11971878 PMID:18788921 PMID:22825795 RGD:11073166 RGD:12914772 RGD:12914773 NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517
JBrowse link
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 chrNW_004624825:9,088,907...9,101,474
Ensembl chrNW_004624825:9,088,957...9,102,419
JBrowse link
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,444,435...9,483,867
Ensembl chrNW_004624820:9,444,467...9,483,975
JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,170,258...8,186,214
Ensembl chrNW_004624820:8,169,816...8,189,168
JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,551,664...9,562,773
Ensembl chrNW_004624820:9,552,287...9,563,472
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:3,992,769...4,393,055
Ensembl chrNW_004624838:3,999,663...4,393,055
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 chrNW_004624820:9,011,251...9,019,487
Ensembl chrNW_004624820:9,011,345...9,019,487
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 chrNW_004624820:1,214,991...1,265,051
Ensembl chrNW_004624820:1,214,662...1,265,243
JBrowse link
G Arf6 ARF GTPase 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,880,065...18,883,456
Ensembl chrNW_004624731:18,882,690...18,883,217
JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:302,000...381,043
Ensembl chrNW_004624820:305,475...381,058
JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,067,010...7,084,928
Ensembl chrNW_004624825:7,067,138...7,084,663
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 chrNW_004624838:1,907,825...2,007,089
Ensembl chrNW_004624838:1,908,527...2,007,052
JBrowse link
G Brms1l BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:984,051...1,020,498
Ensembl chrNW_004624838:985,822...1,020,477
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 chrNW_004624820:8,460,032...8,477,298
Ensembl chrNW_004624820:8,459,756...8,477,287
JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,084,910...8,090,580
Ensembl chrNW_004624820:8,085,705...8,087,053
JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,484,779...9,494,891
Ensembl chrNW_004624820:9,485,919...9,494,990
JBrowse link
G Cebpe CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,423,725...9,425,338
Ensembl chrNW_004624820:9,423,725...9,425,338
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,032,658...2,036,893
Ensembl chrNW_004624838:2,031,895...2,037,728
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,411,629...7,475,111
Ensembl chrNW_004624825:7,411,629...7,474,526
JBrowse link
G Chmp4a charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,281,081...8,284,969 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 chrNW_004624820:8,196,608...8,199,346
Ensembl chrNW_004624820:8,196,653...8,199,367
JBrowse link
G Clec14a C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:7,635,356...7,637,300
Ensembl chrNW_004624813:7,635,808...7,637,169
JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851
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 chrNW_004624820:9,185,467...9,188,333
Ensembl chrNW_004624820:9,185,305...9,188,477
JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,367,582...1,381,630
Ensembl chrNW_004624820:1,366,384...1,381,099
JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,451,588...8,458,871
Ensembl chrNW_004624820:8,448,469...8,458,884
JBrowse link
G CUNH14orf119 chromosome unknown C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,441,533...9,445,056
Ensembl chrNW_004624820:9,441,541...9,444,255
JBrowse link
G CUNH14orf93 chromosome unknown C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,524,566...9,548,650
Ensembl chrNW_004624820:9,524,499...9,548,765
JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:9,062,984...9,081,939
Ensembl chrNW_004624825:9,045,163...9,082,634
JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,407,597...8,415,301
Ensembl chrNW_004624820:8,407,596...8,415,295
JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,204,627...8,213,512 JBrowse link
G Dnaaf2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,069,162...19,077,501
Ensembl chrNW_004624731:19,069,203...19,077,505
JBrowse link
G Dorip1 dopamine receptor interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,595,490...23,605,374 JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:859,554...870,951
Ensembl chrNW_004624820:859,511...868,653
JBrowse link
G Eapp E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,159,869...2,180,879
Ensembl chrNW_004624838:2,160,036...2,180,597
JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:4,474,966...4,475,352 JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,200,383...9,206,387
Ensembl chrNW_004624820:9,200,287...9,207,263
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 chrNW_004624838:2,819,719...2,848,094
Ensembl chrNW_004624838:2,819,631...2,847,827
JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,393,997...8,397,353
Ensembl chrNW_004624820:8,394,408...8,397,353
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,342,313...23,391,877
Ensembl chrNW_004624731:23,340,460...23,392,040
JBrowse link
G Fbxo33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,791,774...8,812,870
Ensembl chrNW_004624813:8,791,774...8,812,916
JBrowse link
G Fitm1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,402,347...8,407,399
Ensembl chrNW_004624820:8,402,347...8,403,663
JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,395,680...23,409,336 JBrowse link
G Foxa1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624955:234,289...239,541
Ensembl chrNW_004624955:231,506...239,508
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:3,542,767...3,547,180
Ensembl chrNW_004624820:3,543,687...3,545,147
JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:24,149,780...24,152,409 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 chrNW_004624820:1,717,602...1,775,175
Ensembl chrNW_004624820:1,715,455...1,774,525
JBrowse link
G Gemin2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,577,291...8,593,625
Ensembl chrNW_004624813:8,577,158...8,593,625
JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,312,253...8,319,585
Ensembl chrNW_004624820:8,312,386...8,319,799
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:839,284...840,276
Ensembl chrNW_004624820:839,284...840,276
JBrowse link
G Haus4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,569,134...9,578,195
Ensembl chrNW_004624820:9,570,971...9,578,464
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:891,562...1,022,586
Ensembl chrNW_004624820:907,396...1,021,455
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 chrNW_004624820:1,097,323...1,196,556
Ensembl chrNW_004624820:1,097,463...1,196,499
JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,198,387...7,276,936
Ensembl chrNW_004624825:7,205,292...7,276,889
JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,263,032...9,274,721 JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,188,709...9,192,180
Ensembl chrNW_004624820:9,188,612...9,191,990
JBrowse link
G Insm2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,269,909...1,272,849
Ensembl chrNW_004624838:1,271,100...1,272,764
JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,352,513...8,361,282
Ensembl chrNW_004624820:8,352,493...8,361,282
JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,369,830...8,376,593
Ensembl chrNW_004624820:8,370,289...8,376,950
JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,000,864...9,010,700
Ensembl chrNW_004624820:9,000,833...9,009,517
JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,074,069...8,084,817
Ensembl chrNW_004624820:8,075,413...8,084,232
JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,977,647...19,027,799
Ensembl chrNW_004624731:18,977,656...19,024,212
JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,935,841...18,973,879
Ensembl chrNW_004624731:18,962,888...18,974,096
JBrowse link
G Klhl28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,543,088...23,586,648
Ensembl chrNW_004624731:23,557,154...23,586,673
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,554,472...18,592,944
Ensembl chrNW_004624731:18,554,457...18,597,796
JBrowse link
G LOC101697223 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,156,562...7,157,628
Ensembl chrNW_004624825:7,156,693...7,157,628
JBrowse link
G LOC101702050 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,587,875...7,588,816
Ensembl chrNW_004624825:7,587,875...7,588,816
JBrowse link
G LOC101702732 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,646,103...7,647,044 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 chrNW_004624813:10,930,009...11,196,036
Ensembl chrNW_004624813:11,049,888...11,196,095
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,645,954...9,652,296
Ensembl chrNW_004624820:9,645,954...9,652,289
JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,091,909...19,101,691
Ensembl chrNW_004624731:19,090,334...19,101,254
JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,187,496...8,196,381
Ensembl chrNW_004624820:8,187,496...8,189,562
JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,192,441...8,196,472
Ensembl chrNW_004624820:8,192,441...8,196,375
JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:508,660...527,306
Ensembl chrNW_004624838:508,732...528,161
JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:20,951,651...21,760,267
Ensembl chrNW_004624731:20,951,954...21,754,936
JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:6,986,277...6,993,324
Ensembl chrNW_004624825:6,986,318...6,995,369
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 chrNW_004624825:7,513,481...7,527,716
Ensembl chrNW_004624825:7,513,481...7,527,695
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 chrNW_004624731:19,080,986...19,082,887
Ensembl chrNW_004624731:19,081,110...19,082,453
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 chrNW_004624813:8,650,615...8,776,264 JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624955:24,761...201,529 JBrowse link
G Mis18bp1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,288,240...23,339,568
Ensembl chrNW_004624731:23,290,631...23,339,687
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,667,371...9,677,488
Ensembl chrNW_004624820:9,667,262...9,677,774
JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,679,172...9,683,445
Ensembl chrNW_004624820:9,679,541...9,683,106
JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,008,475...7,017,422
Ensembl chrNW_004624825:7,008,475...7,017,676
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,319,763...8,329,748
Ensembl chrNW_004624820:8,319,832...8,329,748
JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,917,097...18,963,490
Ensembl chrNW_004624731:18,917,191...18,961,764
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 chrNW_004624820:8,136,231...8,145,395
Ensembl chrNW_004624820:8,136,156...8,146,312
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,092,270...9,102,189
Ensembl chrNW_004624820:9,092,139...9,102,192
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... NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517
JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:227,941...234,431
Ensembl chrNW_004624838:228,153...229,728
JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,199,350...8,204,619
Ensembl chrNW_004624820:8,199,110...8,204,612
JBrowse link
G Nova1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:5,821,232...5,973,709
Ensembl chrNW_004624820:5,821,477...5,971,637
JBrowse link
G Npas3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:3,003,455...3,904,964
Ensembl chrNW_004624838:3,006,512...3,904,799
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,436,469...8,449,354
Ensembl chrNW_004624820:8,444,687...8,449,354
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 chrNW_004624820:562,180...767,434
Ensembl chrNW_004624820:567,217...791,817
JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,093,119...8,114,465
Ensembl chrNW_004624820:8,094,908...8,118,679
JBrowse link
G Oxa1l OXA1L mitochondrial inner membrane insertase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,757,615...9,763,686
Ensembl chrNW_004624820:9,757,840...9,763,640
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:129,725...147,572
Ensembl chrNW_004624838:133,476...149,636
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,426,456...8,436,484
Ensembl chrNW_004624820:8,426,606...8,436,284
JBrowse link
G Pnn pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,620,089...8,627,964
Ensembl chrNW_004624813:8,620,174...8,626,886
JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,027,668...19,063,268
Ensembl chrNW_004624731:19,027,721...19,063,113
JBrowse link
G Ppp1r3e protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,246,477...9,255,803
Ensembl chrNW_004624820:9,248,989...9,252,604
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 chrNW_004624838:1,627,632...1,655,079
Ensembl chrNW_004624838:1,627,873...1,657,475
JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:2,408,562...2,726,199
Ensembl chrNW_004624820:2,408,360...2,726,606
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703
JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:23,409,610...23,450,286
Ensembl chrNW_004624731:23,409,610...23,450,772
JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,449,362...1,474,597
Ensembl chrNW_004624838:1,449,266...1,486,382
JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,498,320...9,499,222
Ensembl chrNW_004624820:9,498,320...9,499,222
JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,506,119...9,513,034
Ensembl chrNW_004624820:9,505,725...9,513,034
JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,397,344...8,400,273
Ensembl chrNW_004624820:8,397,344...8,400,285
JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,389,348...8,393,498
Ensembl chrNW_004624820:8,389,286...8,393,498
JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,477,729...7,493,669
Ensembl chrNW_004624825:7,478,151...7,493,649
JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,230,560...8,236,843
Ensembl chrNW_004624820:8,230,893...8,236,843
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 chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151
JBrowse link
G Rbm23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,610,274...9,624,523 JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,361,345...8,369,356
Ensembl chrNW_004624820:8,361,400...8,368,347
JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,635,971...9,640,321
Ensembl chrNW_004624820:9,635,552...9,640,482
JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,165,546...8,169,172 JBrowse link
G Rnase13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,024,168...7,026,096
Ensembl chrNW_004624825:7,025,342...7,025,803
JBrowse link
G Rnase6 ribonuclease A family member 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:4,468,213...4,469,557
Ensembl chrNW_004624825:4,468,213...4,469,566
JBrowse link
G Rnase7 ribonuclease A family member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,034,523...7,036,967
Ensembl chrNW_004624825:7,036,229...7,036,702
JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,268,727...9,322,963 JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,376,530...8,388,596
Ensembl chrNW_004624820:8,375,871...8,388,569
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,289,385...7,366,388
Ensembl chrNW_004624825:7,296,662...7,366,196
JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:21,941,646...21,944,165
Ensembl chrNW_004624731:21,941,818...21,942,462
JBrowse link
G Rpl36al ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,082,925...19,084,464
Ensembl chrNW_004624731:19,027,587...19,085,171
JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:19,107,593...19,109,651 JBrowse link
G Sall2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,536,350...7,551,168
Ensembl chrNW_004624825:7,535,781...7,551,255
JBrowse link
G Scfd1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,614,884...1,714,020 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 chrNW_004624820:8,072,477...8,075,664
Ensembl chrNW_004624820:8,072,577...8,075,673
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 chrNW_004624813:8,502,473...8,558,078
Ensembl chrNW_004624813:8,499,721...8,558,110
JBrowse link
G Slc22a17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,210,015...9,216,620
Ensembl chrNW_004624820:9,209,864...9,220,087
JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:68,999...129,463
Ensembl chrNW_004624838:75,767...128,843
JBrowse link
G Slc39a2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:6,996,864...7,011,917
Ensembl chrNW_004624825:6,999,039...7,002,141
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,692,057...9,757,251
Ensembl chrNW_004624820:9,708,482...9,757,251
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,365,167...9,418,346
Ensembl chrNW_004624820:9,365,093...9,419,045
JBrowse link
G Snx6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,105,558...2,146,064
Ensembl chrNW_004624838:2,105,619...2,145,268
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 chrNW_004624731:18,601,652...18,694,593
Ensembl chrNW_004624731:18,601,651...18,695,603
JBrowse link
G Sptssa serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:2,207,003...2,231,838
Ensembl chrNW_004624838:2,206,917...2,231,518
JBrowse link
G Srp54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624838:1,697,863...1,747,115
Ensembl chrNW_004624838:1,697,863...1,747,136
JBrowse link
G Sstr1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:7,538,104...7,543,836
Ensembl chrNW_004624813:7,539,304...7,540,479
JBrowse link
G Strn3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:1,264,267...1,364,634
Ensembl chrNW_004624820:1,264,200...1,366,342
JBrowse link
G Stxbp6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:7,450,825...7,724,175
Ensembl chrNW_004624820:7,450,857...7,724,304
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,239,087...8,252,716
Ensembl chrNW_004624820:8,239,904...8,252,541
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,010,936...9,022,935
Ensembl chrNW_004624820:9,020,179...9,022,057
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,262,171...8,265,275
Ensembl chrNW_004624820:8,262,595...8,311,872
JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,345,959...8,352,280
Ensembl chrNW_004624820:8,343,776...8,352,095
JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,093,627...7,098,746
Ensembl chrNW_004624825:7,095,542...7,097,636
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 chrNW_004624731:23,465,516...23,542,960
Ensembl chrNW_004624731:23,461,859...23,542,950
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 chrNW_004624825:7,493,911...7,511,852
Ensembl chrNW_004624825:7,493,953...7,511,846
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 chrNW_004624825:7,021,146...7,023,129
Ensembl chrNW_004624825:7,021,639...7,023,027
JBrowse link
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624813:8,598,451...8,615,687
Ensembl chrNW_004624813:8,600,536...8,615,746
JBrowse link
G Tssk4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:8,285,440...8,345,918
Ensembl chrNW_004624820:8,286,307...8,289,604
JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624955:240,060...486,195 JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:18,694,765...18,704,199
Ensembl chrNW_004624731:18,694,647...18,704,199
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624820:9,025,569...9,057,084
Ensembl chrNW_004624820:9,041,153...9,053,975
JBrowse link
G Znf219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004624825:7,084,757...7,098,942
Ensembl chrNW_004624825:7,084,757...7,090,725
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 chrNW_004624857:3,435,286...3,440,746
Ensembl chrNW_004624857:3,435,952...3,440,055
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 chrNW_004624811:4,904,428...5,108,713
Ensembl chrNW_004624811:4,909,324...5,108,322
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 chrNW_004624767:18,809,626...18,820,360
Ensembl chrNW_004624767:18,809,689...18,820,390
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 chrNW_004624811:4,639,926...4,902,749
Ensembl chrNW_004624811:4,640,090...4,901,510
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 chrNW_004624824:6,112,644...6,202,936
Ensembl chrNW_004624824:6,141,213...6,202,936
JBrowse link
G Ache acetylcholinesterase (Cartwright blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chrNW_004624740:16,275,108...16,280,639
Ensembl chrNW_004624740:16,275,117...16,281,793
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012
JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
JBrowse link
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chrNW_004624797:9,346,620...9,384,531
Ensembl chrNW_004624797:9,345,726...9,384,645
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chrNW_004624784:12,237,329...12,240,013
Ensembl chrNW_004624784:12,233,593...12,239,763
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chrNW_004624787:12,241,838...12,338,089 JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chrNW_004624832:4,400,586...4,405,203
Ensembl chrNW_004624832:4,396,604...4,405,185
JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chrNW_004624736:38,015,150...38,025,079
Ensembl chrNW_004624736:38,015,044...38,025,079
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041 RGD:10054048 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chrNW_004624730:43,793,550...43,849,169
Ensembl chrNW_004624730:43,793,040...43,843,519
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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 chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490
JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087
JBrowse link
G Casp9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:
RGD PMID:12095160 RGD:13432083 NCBI chrNW_004624764:1,769,270...1,789,399
Ensembl chrNW_004624764:1,773,455...1,789,423
JBrowse link
G Cat catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
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 chrNW_004624794:9,809,007...9,813,418 JBrowse link
G Cebpb CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chrNW_004624790:5,367,808...5,369,686
Ensembl chrNW_004624790:5,368,349...5,369,377
JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chrNW_004624928:357,812...401,668
Ensembl chrNW_004624928:360,704...399,714
JBrowse link
G Cib1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chrNW_004624768:17,209,639...17,212,996
Ensembl chrNW_004624768:17,209,639...17,213,114
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chrNW_004624799:6,100,709...6,126,530
Ensembl chrNW_004624799:6,101,728...6,126,520
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO RGD PMID:19115380 RGD:2316196 NCBI chrNW_004624764:8,388,375...8,422,961
Ensembl chrNW_004624764:8,389,444...8,390,538
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 chrNW_004624864:1,785,215...1,788,608
Ensembl chrNW_004624864:1,782,139...1,792,879
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 chrNW_004624765:8,374,160...8,436,969 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 chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chrNW_004624941:82,209...98,156
Ensembl chrNW_004624941:82,209...98,182
JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chrNW_004624747:22,441,533...22,457,056
Ensembl chrNW_004624747:22,441,541...22,457,075
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:prefrontal cortex
protein:decreased expression:cerebral cortex, synapse
RGD PMID:24728190 PMID:25568121 RGD:13432154 RGD:13432155 NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100
JBrowse link
G Dnah6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chrNW_004624749:18,267,959...18,516,919
Ensembl chrNW_004624749:18,268,110...18,506,625
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 chrNW_004624733:14,517,540...14,522,173
Ensembl chrNW_004624733:14,518,146...14,520,905
JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414 RGD:7248682 NCBI chrNW_004624784:8,828,589...8,906,617
Ensembl chrNW_004624784:8,827,006...8,865,529
JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chrNW_004624731:34,318,733...34,369,111
Ensembl chrNW_004624731:34,319,130...34,363,184
JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chrNW_004624755:21,358,586...21,361,410 JBrowse link
G E2f1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chrNW_004624842:5,602,432...5,612,951
Ensembl chrNW_004624842:5,602,432...5,612,951
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345 RGD:10395348 NCBI chrNW_004624738:18,716,623...18,764,243
Ensembl chrNW_004624738:18,717,092...18,758,457
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chrNW_004624978:194,985...208,105
Ensembl chrNW_004624978:194,992...208,103
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958
JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chrNW_004624906:2,288,251...2,313,172
Ensembl chrNW_004624906:2,287,985...2,313,172
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:caudate nucleus (human)
mRNA:decreased expression:striatum (mouse)
RGD PMID:16405510 RGD:11560524 NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chrNW_004624759:17,263,570...17,290,046
Ensembl chrNW_004624759:17,263,969...17,287,723
JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chrNW_004624786:2,071,376...2,086,929
Ensembl chrNW_004624786:2,071,382...2,086,910
JBrowse link
G Gja1 gap junction protein alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313
JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:3159462 PMID:6237280 RGD:10046047 RGD:13524508 NCBI chrNW_004624771:2,608,779...2,618,130 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chrNW_004624810:2,731,573...3,407,186
Ensembl chrNW_004624810:2,733,118...3,401,909
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human)
RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chrNW_004624824:7,128,169...7,513,360
Ensembl chrNW_004624824:7,137,909...7,507,910
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B onset ISO DNA:SNP: :2664C>T (rs1806201) (human)
DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chrNW_004624752:24,008,520...24,480,834
Ensembl chrNW_004624752:24,135,487...24,459,288
JBrowse link
G Grm5 glutamate metabotropic receptor 5 disease_progression
treatment
ISO RGD PMID:15306259 PMID:23489026 PMID:24282028 PMID:25160573 RGD:13432158 RGD:13432558 RGD:13432561 RGD:13432562 NCBI chrNW_004624845:1,064,866...1,631,722
Ensembl chrNW_004624845:1,079,564...1,627,880
JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chrNW_004624738:24,409,531...24,421,384
Ensembl chrNW_004624738:24,407,551...24,421,561
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 chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025
JBrowse link
G Hdac3 histone deacetylase 3 ISO mRNA:increased expression:cerebral cortex
protein:increased expression:striatum:
RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chrNW_004624774:845,970...864,080
Ensembl chrNW_004624774:845,358...863,809
JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chrNW_004624816:4,441,543...4,476,520
Ensembl chrNW_004624816:4,441,849...4,475,437
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chrNW_004624951:681,559...711,476
Ensembl chrNW_004624951:682,178...711,474
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chrNW_004624732:37,621,014...37,689,873
Ensembl chrNW_004624732:37,620,925...37,691,708
JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chrNW_004624764:15,990,910...15,999,617
Ensembl chrNW_004624764:15,990,729...15,999,615
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 chrNW_004624735:12,536,818...12,562,643
Ensembl chrNW_004624735:12,537,128...12,562,644
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chrNW_004624880:2,070,410...2,075,069
Ensembl chrNW_004624880:2,070,523...2,079,421
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chrNW_004624749:28,980,375...28,983,719
Ensembl chrNW_004624749:28,980,362...28,983,869
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 chrNW_004624755:24,602,955...24,729,584
Ensembl chrNW_004624755:24,603,490...24,729,333
JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chrNW_004624731:41,321,574...41,390,133
Ensembl chrNW_004624731:41,322,033...41,388,570
JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
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 chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886
JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chrNW_004624730:2,697,098...2,734,198
Ensembl chrNW_004624730:2,697,098...2,734,636
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor type 1 ISO protein:decreased expression:neostriatum (rat)
protein:decreased activity:cerebellum, striatum (mouse)
RGD PMID:9761455 PMID:19193873 PMID:21145001 RGD:6480685 RGD:6480875 RGD:6483009 NCBI chrNW_004624773:14,856,803...15,193,173
Ensembl chrNW_004624773:14,856,804...15,193,168
JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chrNW_004624909:421,033...455,201
Ensembl chrNW_004624909:420,077...455,309
JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009
JBrowse link
G Lep leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727
JBrowse link
G LOC101718508 cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chrNW_004624739:5,411,192...5,413,995
Ensembl chrNW_004624739:5,411,273...5,413,995
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chrNW_004624762:11,743,833...11,820,529
Ensembl chrNW_004624762:11,743,712...11,822,377
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chrNW_004624762:11,584,925...11,720,273
Ensembl chrNW_004624762:11,584,825...11,720,506
JBrowse link
G Map2 microtubule associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chrNW_004624765:6,476,544...6,758,959
Ensembl chrNW_004624765:6,476,346...6,546,116
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 treatment
onset
ISO DNa:SNO:promoter:rs5880308(human)
protein:increased expression:cortex,striatum,nucleus:
RGD PMID:18327563 PMID:19646509 RGD:10412311 RGD:10412314 NCBI chrNW_004624886:970,415...1,189,595
Ensembl chrNW_004624886:969,623...1,190,709
JBrowse link
G Mbp myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chrNW_004624806:3,465,881...3,587,428
Ensembl chrNW_004624806:3,489,681...3,588,335
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
JBrowse link
G Mtnr1a melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 RGD:9686058 NCBI chrNW_004624769:17,320,100...17,355,164
Ensembl chrNW_004624769:17,320,107...17,355,099
JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chrNW_004624739:26,117,665...26,152,322 JBrowse link
G Ncor1 nuclear receptor corepressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chrNW_004624877:4,203,125...4,379,891
Ensembl chrNW_004624877:4,233,282...4,377,211
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723
JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chrNW_004624795:5,623,686...5,639,545
Ensembl chrNW_004624795:5,623,700...5,639,655
JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051
JBrowse link
G Npy neuropeptide Y onset
no_association
ISO mRNA:decreased expression:hypothalamus
DNA:SNP: :rs3037354 (human)
DNA:SNP: :rs16147 (human)
RGD PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606 RGD:10433112 RGD:10433553 NCBI chrNW_004624739:6,277,704...6,285,454
Ensembl chrNW_004624739:6,277,612...6,285,397
JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chrNW_004624848:3,049,009...3,054,548
Ensembl chrNW_004624848:3,048,413...3,054,495
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 chrNW_004624783:6,488,653...6,654,304
Ensembl chrNW_004624783:6,488,380...6,602,250
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chrNW_004624805:5,683,095...5,717,558
Ensembl chrNW_004624805:5,683,021...5,721,336
JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chrNW_004624807:446,662...478,571
Ensembl chrNW_004624807:446,647...479,069
JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chrNW_004624745:29,630,990...29,682,965
Ensembl chrNW_004624745:29,630,747...29,682,995
JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chrNW_004624745:27,834,814...27,919,264
Ensembl chrNW_004624745:27,839,682...27,919,299
JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chrNW_004624767:22,038,058...22,055,715
Ensembl chrNW_004624767:22,039,870...22,055,579
JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chrNW_004624786:10,098,133...10,122,783
Ensembl chrNW_004624786:10,097,294...10,122,893
JBrowse link
G Ppard peroxisome proliferator activated receptor delta ISO OMIM:143100 MouseDO NCBI chrNW_004624754:22,021,465...22,084,320 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment
onset
severity
no_association
ISO mRNA:decreased expression:caudate nucleus (human)
mRNA:decreased expression:medium spiny neuron (mouse)
protein:increased expression:subthalamic nucleus (rat)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
DNA:snps, haplotypes:multiple (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
protein:increased expression:brain (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 chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297
JBrowse link
G Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chrNW_004624795:3,432,179...3,439,490
Ensembl chrNW_004624795:3,431,689...3,439,545
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 chrNW_004624813:1,587,567...1,951,620
Ensembl chrNW_004624813:1,588,261...1,945,788
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chrNW_004624830:6,318,352...6,584,232
Ensembl chrNW_004624830:6,317,968...6,581,892
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 chrNW_004624759:14,143,439...14,174,971
Ensembl chrNW_004624759:14,142,956...14,171,718
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chrNW_004624855:430,148...1,992,121
Ensembl chrNW_004624855:430,260...1,989,747
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chrNW_004624754:23,811,008...23,815,432
Ensembl chrNW_004624754:23,807,272...23,815,417
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chrNW_004624745:22,683,600...22,764,735
Ensembl chrNW_004624745:22,683,016...22,764,720
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 chrNW_004624772:18,855,405...18,894,285
Ensembl chrNW_004624772:18,855,332...18,894,226
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chrNW_004624894:300,027...388,397
Ensembl chrNW_004624894:301,082...362,683
JBrowse link
G Sirt1 sirtuin 1 ISO protein:decreased expression:frontal cortex
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
RGD PMID:9949199 PMID:18538940 PMID:22179316 RGD:10395240 RGD:9585998 RGD:9586004 NCBI chrNW_004624754:2,304,476...2,332,705
Ensembl chrNW_004624754:2,304,634...2,330,946
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 chrNW_004624928:403,114...405,560
Ensembl chrNW_004624928:403,503...405,095
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194 RGD:13432195 NCBI chrNW_004624767:11,768,942...11,919,315
Ensembl chrNW_004624767:11,768,951...11,911,017
JBrowse link
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chrNW_004624754:15,623,960...15,636,377
Ensembl chrNW_004624754:15,624,429...15,632,996
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chrNW_004624790:10,812,013...10,817,414
Ensembl chrNW_004624790:10,812,013...10,817,833
JBrowse link
G Syne3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chrNW_004624734:7,894,894...7,970,430
Ensembl chrNW_004624734:7,897,223...7,936,725
JBrowse link
G Tbp TATA-box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chrNW_004624850:6,359,382...6,375,391
Ensembl chrNW_004624850:6,359,418...6,375,391
JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chrNW_004624791:5,183,276...5,198,986
Ensembl chrNW_004624791:5,179,195...5,198,611
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982
JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chrNW_004624828:3,814,101...3,824,279
Ensembl chrNW_004624828:3,814,153...3,824,278
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 chrNW_004625006:155,179...162,544
Ensembl chrNW_004625006:155,100...162,551
JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chrNW_004624817:3,067,358...3,075,045
Ensembl chrNW_004624817:3,067,320...3,075,043
JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chrNW_004624754:16,083,356...16,124,682
Ensembl chrNW_004624754:16,083,407...16,123,407
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO OMIM:143100 MouseDO NCBI chrNW_004624766:10,556,715...10,608,070
Ensembl chrNW_004624766:10,556,645...10,608,083
JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISO OMIM:143100 MouseDO NCBI chrNW_004624750:21,224,049...21,309,089
Ensembl chrNW_004624750:21,225,768...21,308,927
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 chrNW_004624741:4,764,508...4,778,174
Ensembl chrNW_004624741:4,766,306...4,775,501
JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,838,261...4,852,217
Ensembl chrNW_004624741:4,838,261...4,852,233
JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:5,276,484...5,297,594
Ensembl chrNW_004624741:5,274,187...5,296,986
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 chrNW_004624741:4,903,219...4,930,021
Ensembl chrNW_004624741:4,903,492...4,910,923
JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,559,149...4,745,840
Ensembl chrNW_004624741:4,559,121...4,745,996
JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,208,305...4,210,097
Ensembl chrNW_004624741:4,208,329...4,210,071
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484
JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,871,275...4,892,730
Ensembl chrNW_004624741:4,882,516...4,892,925
JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,159,561...6,231,967
Ensembl chrNW_004624741:6,159,573...6,227,419
JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,868,453...4,870,933
Ensembl chrNW_004624741:4,869,248...4,870,897
JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,754,161...6,766,317
Ensembl chrNW_004624741:6,754,407...6,766,079
JBrowse link
G Cpxm1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,930,417...3,936,649
Ensembl chrNW_004624741:3,930,547...3,936,572
JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,828,274...6,852,461 JBrowse link
G CUNH20orf141 chromosome unknown C20orf141 homolog ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,939,578...3,940,219 JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,292,256...4,305,424
Ensembl chrNW_004624741:4,292,256...4,305,504
JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,349,822...4,484,526
Ensembl chrNW_004624741:4,352,971...4,484,435
JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,834,175...3,892,347
Ensembl chrNW_004624741:3,834,151...3,892,353
JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,254,391...4,268,297 JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,881,477...6,914,910
Ensembl chrNW_004624741:6,880,877...6,915,051
JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,752,376...4,757,642
Ensembl chrNW_004624741:4,753,792...4,757,642
JBrowse link
G Gnrh2p gonadotropin releasing hormone 2 pseudogene ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,162,786...4,164,067 JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,472,558...6,529,698
Ensembl chrNW_004624741:6,472,558...6,528,865
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 chrNW_004624741:4,818,611...4,837,862
Ensembl chrNW_004624741:4,818,589...4,837,862
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 chrNW_004624741:3,808,436...3,814,239
Ensembl chrNW_004624741:3,808,784...3,814,510
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,312,363...4,341,996
Ensembl chrNW_004624741:4,312,360...4,325,825
JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,855,911...6,865,972
Ensembl chrNW_004624741:6,857,658...6,864,825
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 chrNW_004624741:4,271,584...4,282,082
Ensembl chrNW_004624741:4,268,869...4,281,653
JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,936,556...4,951,081
Ensembl chrNW_004624741:4,939,040...4,954,058
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 chrNW_004624741:6,787,555...6,826,033
Ensembl chrNW_004624741:6,787,578...6,827,188
JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,164,156...4,166,303
Ensembl chrNW_004624741:4,164,440...4,165,963
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,803,000...3,808,439
Ensembl chrNW_004624741:3,803,169...3,808,342
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,200,594...4,201,416
Ensembl chrNW_004624741:4,200,478...4,201,580
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,966,136...5,025,465
Ensembl chrNW_004624741:4,966,260...5,007,207
JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,939,625...3,960,760
Ensembl chrNW_004624741:3,954,382...3,960,322
JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898
JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,239,101...3,253,507
Ensembl chrNW_004624741:3,237,942...3,253,503
JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:5,814,894...5,820,087
Ensembl chrNW_004624741:5,814,931...5,820,072
JBrowse link
G Prnp prion protein (Kanno blood group) susceptibility ISO ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES ClinVar
OMIM
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chrNW_004624741:5,785,139...5,802,162
Ensembl chrNW_004624741:5,785,158...5,802,162
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,270,098...6,281,147
Ensembl chrNW_004624741:6,270,002...6,281,182
JBrowse link
G Ptpra protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,997,853...4,155,130
Ensembl chrNW_004624741:4,075,101...4,155,130
JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:5,851,260...5,894,972
Ensembl chrNW_004624741:5,857,607...5,894,969
JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:5,015,475...5,073,652
Ensembl chrNW_004624741:5,012,368...5,048,688
JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,630,746...6,766,314
Ensembl chrNW_004624741:6,638,889...6,721,118
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 chrNW_004624741:4,781,347...4,802,893
Ensembl chrNW_004624741:4,783,327...4,798,378
JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:5,917,620...6,050,922
Ensembl chrNW_004624741:5,917,019...6,000,720
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,328,745...4,339,919
Ensembl chrNW_004624741:4,328,675...4,339,851
JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:5,215,924...5,250,970
Ensembl chrNW_004624741:5,215,393...5,251,552
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 chrNW_004624741:3,694,488...3,703,169
Ensembl chrNW_004624741:3,691,676...3,703,255
JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,861,992...4,868,261
Ensembl chrNW_004624741:4,862,872...4,866,783
JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,360,814...3,434,002
Ensembl chrNW_004624741:3,360,648...3,404,734
JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,543,887...3,585,600
Ensembl chrNW_004624741:3,543,982...3,585,109
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,654,288...3,672,382
Ensembl chrNW_004624741:3,646,131...3,672,382
JBrowse link
G Tmc2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,723,601...3,788,403
Ensembl chrNW_004624741:3,733,672...3,786,971
JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,133,251...6,142,366
Ensembl chrNW_004624741:6,135,252...6,142,469
JBrowse link
G Tmem239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:3,939,686...3,941,414
Ensembl chrNW_004624741:3,940,745...3,941,551
JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:6,774,767...6,787,461
Ensembl chrNW_004624741:6,775,944...6,788,161
JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004624741:4,228,564...4,268,213
Ensembl chrNW_004624741:4,229,031...4,268,798
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 chrNW_004624741:3,959,561...3,991,191
Ensembl chrNW_004624741:3,959,363...3,991,191
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 chrNW_004624746:3,193,695...3,243,916
Ensembl chrNW_004624746:3,193,687...3,242,444
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 chrNW_004624762:19,075,485...19,603,914 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 chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938
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 chrNW_004624762:17,734,738...17,747,418
Ensembl chrNW_004624762:17,734,769...17,747,527
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 chrNW_004624762:17,916,148...18,033,799
Ensembl chrNW_004624762:17,925,158...18,033,734
JBrowse link
G LOC101709509 cytochrome b-245 heavy chain ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chrNW_004624762:17,759,625...17,793,434
Ensembl chrNW_004624762:17,757,404...17,793,467
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chrNW_004624762:19,674,668...19,720,676 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 chrNW_004624762:18,273,401...18,379,796
Ensembl chrNW_004624762:18,273,434...18,378,802
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 chrNW_004624762:21,100,254...21,129,793
Ensembl chrNW_004624762:21,100,133...21,129,895
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 chrNW_004624762:17,856,746...17,915,975
Ensembl chrNW_004624762:17,856,731...17,914,938
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 chrNW_004624870:85,695...142,842 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 chrNW_004624870:136,060...204,486
Ensembl chrNW_004624870:177,239...204,552
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 chrNW_004624811:4,639,926...4,902,749
Ensembl chrNW_004624811:4,640,090...4,901,510
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 chrNW_004624762:17,856,746...17,915,975
Ensembl chrNW_004624762:17,856,731...17,914,938
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 chrNW_004624823:6,761,343...6,766,573
Ensembl chrNW_004624823:6,761,254...6,768,545
JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,797,897...5,805,055
Ensembl chrNW_004624823:5,797,943...5,808,448
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 chrNW_004624823:5,780,287...5,787,543
Ensembl chrNW_004624823:5,780,484...5,787,007
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 chrNW_004624823:6,774,855...6,804,219 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 chrNW_004624823:5,523,166...5,544,982
Ensembl chrNW_004624823:5,523,185...5,544,956
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,787,525...5,797,536
Ensembl chrNW_004624823:5,787,601...5,797,534
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,640,438...6,646,705
Ensembl chrNW_004624823:6,640,326...6,646,680
JBrowse link
G Cdk5r2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,053,469...6,054,748
Ensembl chrNW_004624823:6,053,550...6,054,659
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,977,592...6,015,786
Ensembl chrNW_004624823:5,977,554...6,015,868
JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,518,382...5,522,997
Ensembl chrNW_004624823:5,518,410...5,525,312
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,449,165...6,484,593
Ensembl chrNW_004624823:6,450,656...6,484,578
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,845,147...5,851,831
Ensembl chrNW_004624823:5,845,135...5,851,740
JBrowse link
G Cryba2 crystallin beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,023,307...6,027,792
Ensembl chrNW_004624823:6,023,350...6,027,806
JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,603,095...6,608,490
Ensembl chrNW_004624823:6,601,919...6,608,552
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 ClinVar PMID:28492532 NCBI chrNW_004624823:6,857,649...6,861,219
Ensembl chrNW_004624823:6,859,356...6,860,426
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283
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 chrNW_004624823:5,730,553...5,737,668
Ensembl chrNW_004624823:5,730,386...5,738,459
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,658,301...5,667,010
Ensembl chrNW_004624823:5,658,379...5,667,010
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,032,188...6,036,211
Ensembl chrNW_004624823:6,032,352...6,036,211
JBrowse link
G Glb1l galactosidase beta 1 like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,770,049...5,780,343
Ensembl chrNW_004624823:5,770,308...5,780,203
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,552,044...5,559,037
Ensembl chrNW_004624823:5,550,014...5,559,812
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,766,816...6,769,490
Ensembl chrNW_004624823:6,766,816...6,769,473
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,959,329...5,965,584
Ensembl chrNW_004624823:5,959,448...5,964,769
JBrowse link
G LOC101700018 sterol 26-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,199,807...6,258,273
Ensembl chrNW_004624823:6,200,047...6,258,001
JBrowse link
G LOC101703804 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,392,959...6,397,419
Ensembl chrNW_004624823:6,392,959...6,396,854
JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,859,157...5,944,573
Ensembl chrNW_004624823:5,864,003...5,946,583
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202
JBrowse link
G Plcd4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,418,359...6,446,848
Ensembl chrNW_004624823:6,418,922...6,442,418
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 chrNW_004624823:6,675,702...6,761,133
Ensembl chrNW_004624823:6,674,917...6,761,025
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 chrNW_004624823:6,184,970...6,196,535
Ensembl chrNW_004624823:6,184,801...6,192,654
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 chrNW_004624782:13,390,347...13,393,775 JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,710,669...5,734,739
Ensembl chrNW_004624823:5,710,622...5,729,093
JBrowse link
G Resp18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,688,508...5,693,522 JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,839,760...5,845,053
Ensembl chrNW_004624823:5,839,760...5,844,967
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,383,727...6,392,332
Ensembl chrNW_004624823:6,383,813...6,392,332
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
JBrowse link
G Slc23a3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,852,164...5,858,938
Ensembl chrNW_004624823:5,852,454...5,858,373
JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,563,687...5,618,786
Ensembl chrNW_004624823:5,564,550...5,618,786
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,765,284...5,770,778
Ensembl chrNW_004624823:5,763,171...5,770,587
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,359,868...6,383,777
Ensembl chrNW_004624823:6,360,242...6,383,035
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 chrNW_004624823:6,736,216...6,757,285
Ensembl chrNW_004624823:6,735,497...6,756,093
JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,511,326...5,518,032
Ensembl chrNW_004624823:5,511,475...5,517,681
JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,314,177...6,352,236
Ensembl chrNW_004624823:6,310,738...6,352,333
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,484,732...6,567,285
Ensembl chrNW_004624823:6,484,772...6,562,990
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,567,107...6,593,258
Ensembl chrNW_004624823:6,566,687...6,588,599
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,126,238...6,140,764
Ensembl chrNW_004624823:6,128,256...6,140,235
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,145,836...6,150,133
Ensembl chrNW_004624823:6,145,545...6,150,181
JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:5,805,147...5,808,500
Ensembl chrNW_004624823:5,805,147...5,808,485
JBrowse link
G Znf142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004624823:6,397,211...6,417,671 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 chrNW_004624754:11,033,649...11,155,271
Ensembl chrNW_004624754:11,036,716...11,155,256
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 chrNW_004624860:1,915,108...1,923,071
Ensembl chrNW_004624860:1,915,344...1,923,062
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 chrNW_004624754:10,152,635...10,885,239
Ensembl chrNW_004624754:10,153,809...10,885,079
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        Neurologic Manifestations 9170
          Dyskinesias 2035
            choreatic disease 428
              3-methylglutaconic aciduria type 3 3
              Benign Familial Chorea 1
              Brain-Lung-Thyroid Syndrome 158
              Childhood-Onset Chorea with Psychomotor Retardation 1
              Choreoathetosis, Familial Inverted 0
              Huntington's disease + 187
              Huntington's disease-like 2 1
              Remitting Chorea with Nystagmus and Cataracts 0
              chorea gravidarum 0
              mitochondrial DNA depletion syndrome 16B 2
              neuroacanthocytosis + 12
              paroxysmal nonkinesigenic dyskinesia 1 49
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        central nervous system disease 10995
          brain disease 10311
            movement disease 2382
              Dyskinesias 2035
                choreatic disease 428
                  3-methylglutaconic aciduria type 3 3
                  Benign Familial Chorea 1
                  Brain-Lung-Thyroid Syndrome 158
                  Childhood-Onset Chorea with Psychomotor Retardation 1
                  Choreoathetosis, Familial Inverted 0
                  Huntington's disease + 187
                  Huntington's disease-like 2 1
                  Remitting Chorea with Nystagmus and Cataracts 0
                  chorea gravidarum 0
                  mitochondrial DNA depletion syndrome 16B 2
                  neuroacanthocytosis + 12
                  paroxysmal nonkinesigenic dyskinesia 1 49
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
paths to the root