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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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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_004955532:2,163,529...2,283,509
Ensembl chrNW_004955532:2,163,529...2,283,508
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chrNW_004955477:7,435,324...7,557,212
Ensembl chrNW_004955477:7,434,482...7,556,504
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_004955419:17,825,868...17,848,868
Ensembl chrNW_004955419:17,825,868...17,848,868
JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chrNW_004955477:7,715,257...7,748,913
Ensembl chrNW_004955477:7,715,257...7,752,818
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_004955433:14,004,813...14,170,631
Ensembl chrNW_004955433:14,004,813...14,172,707
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955458:5,264,274...5,310,962
Ensembl chrNW_004955458:5,287,111...5,310,962
JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004955409:24,821,884...24,848,125
Ensembl chrNW_004955409:24,821,884...24,848,125
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chrNW_004955477:7,103,035...7,375,073
Ensembl chrNW_004955477:7,102,977...7,376,530
JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004955409:23,605,072...23,934,045
Ensembl chrNW_004955409:23,637,019...23,880,323
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_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004955409:24,529,414...24,531,293
Ensembl chrNW_004955409:24,529,594...24,530,998
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004955409:24,401,599...24,443,687
Ensembl chrNW_004955409:24,424,343...24,444,040
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:32467598 NCBI chrNW_004955414:18,765,591...18,826,717
Ensembl chrNW_004955414:18,735,822...18,827,236
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_004955402:45,979,577...46,114,634
Ensembl chrNW_004955402:45,983,826...46,114,752
JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chrNW_004955409:23,949,794...24,421,944
Ensembl chrNW_004955409:23,952,595...24,421,307
JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO choreoacanthocytosis, OMIM:200150 RGD PMID:11381253 RGD:1599747 NCBI chrNW_004955512:2,037,803...2,267,197
Ensembl chrNW_004955512:2,039,115...2,267,099
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_004955420:9,974,466...9,978,789
Ensembl chrNW_004955420:9,953,045...9,978,789
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_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
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_004955574:60,652...82,343
Ensembl chrNW_004955574:60,652...82,343
JBrowse link
Benign Familial Chorea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)
DNA:splice-site mutation:intron:c.464-9C>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_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
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_004955409:37,650,220...37,662,950
Ensembl chrNW_004955409:37,650,109...37,663,459
JBrowse link
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,206,675...37,246,851
Ensembl chrNW_004955409:37,206,675...37,246,922
JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:35,966,529...35,982,839
Ensembl chrNW_004955409:35,966,332...35,982,218
JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,318,597...37,329,068
Ensembl chrNW_004955409:37,318,597...37,329,155
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:28,067,814...28,516,881
Ensembl chrNW_004955409:28,077,621...28,516,944
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_004955409:36,795,351...36,803,605
Ensembl chrNW_004955409:36,795,358...36,803,605
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_004955409:29,482,820...29,530,691
Ensembl chrNW_004955409:29,482,980...29,505,835
JBrowse link
G Arf6 ARF GTPase 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:12,814,814...12,818,142
Ensembl chrNW_004955409:12,817,496...12,818,023
JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:28,627,176...28,682,302
Ensembl chrNW_004955409:28,627,176...28,705,893
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_004955550:1,837,903...1,854,490
Ensembl chrNW_004955550:1,837,899...1,856,005
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_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180
JBrowse link
G Brms1l BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:25,286,312...25,319,557
Ensembl chrNW_004955409:25,285,974...25,319,557
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_004955409:36,324,141...36,341,648
Ensembl chrNW_004955409:36,324,474...36,340,931
JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:35,880,337...35,882,485
Ensembl chrNW_004955409:35,881,075...35,882,268
JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,249,377...37,257,420
Ensembl chrNW_004955409:37,249,531...37,256,603
JBrowse link
G Cebpe CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,186,282...37,187,914
Ensembl chrNW_004955409:37,186,039...37,187,921
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:26,247,050...26,250,082
Ensembl chrNW_004955409:26,246,369...26,250,082
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_004955550:2,115,649...2,175,687
Ensembl chrNW_004955550:2,115,649...2,175,181
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_004955409:35,993,853...35,996,935
Ensembl chrNW_004955409:35,993,853...35,996,935
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_004955409:22,819,530...22,823,306 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_004955409:36,957,584...36,960,534
Ensembl chrNW_004955409:36,957,584...36,960,534
JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:29,639,274...29,650,389
Ensembl chrNW_004955409:29,639,274...29,650,874
JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,315,353...36,322,646
Ensembl chrNW_004955409:36,315,353...36,322,646
JBrowse link
G CUNH14orf119 chromosome unknown C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,203,604...37,206,853
Ensembl chrNW_004955409:37,203,604...37,206,426
JBrowse link
G CUNH14orf93 chromosome unknown C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,290,615...37,315,297
Ensembl chrNW_004955409:37,290,550...37,314,598
JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,670,266...37,688,226
Ensembl chrNW_004955409:37,670,274...37,688,391
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_004955409:36,272,184...36,279,985
Ensembl chrNW_004955409:36,272,184...36,279,872
JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,002,576...36,040,595
Ensembl chrNW_004955409:36,002,576...36,009,513
JBrowse link
G Dnaaf2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:13,019,941...13,028,378
Ensembl chrNW_004955409:13,020,313...13,027,849
JBrowse link
G Dorip1 dopamine receptor interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:17,014,194...17,023,953
Ensembl chrNW_004955409:17,012,125...17,024,784
JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:29,151,779...29,160,734
Ensembl chrNW_004955409:29,151,779...29,160,734
JBrowse link
G Eapp E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:26,383,618...26,411,738
Ensembl chrNW_004955409:26,383,732...26,414,568
JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,973,522...36,981,079
Ensembl chrNW_004955409:36,973,522...36,981,079
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_004955409:26,939,933...26,967,156
Ensembl chrNW_004955409:26,939,933...26,967,156
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_004955409:36,257,904...36,262,120
Ensembl chrNW_004955409:36,257,904...36,262,120
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:16,751,658...16,809,352 JBrowse link
G Fbxo33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:21,929,863...21,952,812
Ensembl chrNW_004955409:21,930,071...21,951,068
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_004955409:36,267,121...36,268,462
Ensembl chrNW_004955409:36,267,121...36,268,462
JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:16,810,934...16,824,380
Ensembl chrNW_004955409:16,810,710...16,824,380
JBrowse link
G Foxa1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:31,672,960...31,674,970 JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:17,433,213...17,435,957 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_004955409:29,908,075...29,965,331
Ensembl chrNW_004955409:29,908,148...29,945,497
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_004955409:22,142,082...22,153,699
Ensembl chrNW_004955409:22,142,078...22,153,698
JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,166,129...36,173,247
Ensembl chrNW_004955409:36,166,129...36,173,245
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:29,124,200...29,130,823
Ensembl chrNW_004955409:29,124,200...29,130,823
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_004955409:37,342,144...37,351,434
Ensembl chrNW_004955409:37,343,712...37,353,562
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:29,208,050...29,312,752
Ensembl chrNW_004955409:29,208,050...29,312,752
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_004955409:29,373,572...29,470,623
Ensembl chrNW_004955409:29,373,572...29,470,623
JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:1,949,975...2,002,297
Ensembl chrNW_004955550:1,949,975...2,002,297
JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,022,482...37,040,420 JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,960,902...36,964,038
Ensembl chrNW_004955409:36,961,398...36,964,038
JBrowse link
G Insm2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:25,584,543...25,586,025
Ensembl chrNW_004955409:25,584,904...25,585,998
JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,214,704...36,223,714
Ensembl chrNW_004955409:36,214,704...36,223,714
JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,233,633...36,239,916
Ensembl chrNW_004955409:36,234,077...36,239,500
JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,785,003...36,795,196
Ensembl chrNW_004955409:36,785,003...36,795,196
JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:35,871,214...35,880,233
Ensembl chrNW_004955409:35,872,087...35,879,565
JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:12,914,446...12,970,266
Ensembl chrNW_004955409:12,912,303...12,970,474
JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:12,901,892...12,910,562
Ensembl chrNW_004955409:12,901,892...12,910,562
JBrowse link
G Klhl28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:16,968,099...16,999,697
Ensembl chrNW_004955409:16,984,039...16,999,697
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
JBrowse link
G LOC102009550 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:1,921,231...1,923,589
Ensembl chrNW_004955550:1,921,231...1,923,223
JBrowse link
G LOC102015352 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:2,295,101...2,296,367 JBrowse link
G LOC102015989 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:2,352,164...2,353,090
Ensembl chrNW_004955550:2,352,164...2,353,090
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_004955409:19,710,527...19,969,984
Ensembl chrNW_004955409:19,710,305...19,856,123
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,413,471...37,419,485
Ensembl chrNW_004955409:37,412,778...37,419,734
JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:13,039,029...13,048,038 JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:35,984,757...35,991,492
Ensembl chrNW_004955409:35,984,933...35,985,976
JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:35,989,425...35,991,492
Ensembl chrNW_004955409:35,989,425...35,991,492
JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:24,821,884...24,848,125
Ensembl chrNW_004955409:24,821,884...24,848,125
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_004955409:14,684,252...15,449,388
Ensembl chrNW_004955409:14,684,611...15,449,388
JBrowse link
G Mdp1 magnesium dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,183,114...36,185,184
Ensembl chrNW_004955409:36,183,119...36,185,178
JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:1,747,234...1,755,136
Ensembl chrNW_004955550:1,747,994...1,756,790
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_004955550:2,211,270...2,227,715
Ensembl chrNW_004955550:2,211,270...2,227,715
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_004955409:13,029,578...13,032,406
Ensembl chrNW_004955409:13,030,569...13,031,912
JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:23,605,072...23,934,045
Ensembl chrNW_004955409:23,637,019...23,880,323
JBrowse link
G Mis18bp1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:16,704,414...16,751,469
Ensembl chrNW_004955409:16,710,362...16,750,434
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,452,998...37,457,014
Ensembl chrNW_004955409:37,452,998...37,456,770
JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:1,771,514...1,778,693
Ensembl chrNW_004955550:1,767,911...1,780,635
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,173,533...36,182,444
Ensembl chrNW_004955409:36,173,533...36,182,444
JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:12,855,655...12,901,673
Ensembl chrNW_004955409:12,855,749...12,900,702
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_004955409:35,931,208...35,941,555
Ensembl chrNW_004955409:35,931,173...35,940,696
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,877,343...36,887,031
Ensembl chrNW_004955409:36,877,343...36,887,031
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_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:24,529,414...24,531,293
Ensembl chrNW_004955409:24,529,594...24,530,998
JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:35,996,918...36,002,460
Ensembl chrNW_004955409:35,992,160...36,002,459
JBrowse link
G Nova1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:33,681,947...33,820,356
Ensembl chrNW_004955409:33,680,587...33,815,818
JBrowse link
G Npas3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:27,134,610...27,975,282
Ensembl chrNW_004955409:27,137,667...27,975,282
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,279,996...36,313,824
Ensembl chrNW_004955409:36,310,932...36,313,893
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_004955409:28,873,609...29,073,196
Ensembl chrNW_004955409:28,872,189...29,073,206
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_004955409:35,890,158...35,910,859
Ensembl chrNW_004955409:35,889,773...35,910,771
JBrowse link
G Oxa1l OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,513,925...37,519,250
Ensembl chrNW_004955409:37,514,177...37,519,376
JBrowse link
G Pabpn1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,000,423...37,004,823
Ensembl chrNW_004955409:37,000,451...37,004,682
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:24,401,599...24,443,687
Ensembl chrNW_004955409:24,424,343...24,444,040
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,288,402...36,296,761
Ensembl chrNW_004955409:36,288,568...36,296,828
JBrowse link
G Pnn pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:22,102,016...22,110,505 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_004955409:12,983,488...13,014,669
Ensembl chrNW_004955409:12,983,586...13,014,578
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_004955409:37,016,851...37,025,125
Ensembl chrNW_004955409:37,022,140...37,023,312
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_004955409:25,920,973...25,943,985 JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:30,554,095...30,860,588
Ensembl chrNW_004955409:30,554,013...30,860,649
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,369,507...37,378,034
Ensembl chrNW_004955409:37,369,234...37,378,093
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:25,791,209...25,920,651
Ensembl chrNW_004955409:25,791,575...25,920,077
JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:16,824,638...16,845,778
Ensembl chrNW_004955409:16,824,638...16,845,778
JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:25,751,578...25,787,533
Ensembl chrNW_004955409:25,750,270...25,787,533
JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,260,080...37,260,866 JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,269,319...37,278,957
Ensembl chrNW_004955409:37,268,980...37,279,937
JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,262,114...36,264,996
Ensembl chrNW_004955409:36,262,114...36,264,994
JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,252,847...36,257,021 JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:2,180,326...2,195,523
Ensembl chrNW_004955550:2,180,326...2,195,523
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_004955409:25,336,503...25,582,881
Ensembl chrNW_004955409:25,337,699...25,583,657
JBrowse link
G Rbm23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,384,872...37,392,896 JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,223,783...36,231,749
Ensembl chrNW_004955409:36,223,844...36,230,948
JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,403,758...37,408,312
Ensembl chrNW_004955409:37,402,212...37,408,312
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_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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_004955550:1,786,550...1,800,191
Ensembl chrNW_004955550:1,786,550...1,800,191
JBrowse link
G Rnase6 ribonuclease A family member 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:1,687,068...1,688,160 JBrowse link
G Rnase7 ribonuclease A family member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:1,796,301...1,797,801 JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:37,041,751...37,095,179 JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,240,008...36,252,166
Ensembl chrNW_004955409:36,240,008...36,252,166
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498
JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:15,612,118...15,613,056
Ensembl chrNW_004955409:15,612,198...15,612,842
JBrowse link
G Rpl36al ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:13,032,499...13,033,876 JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:13,056,022...13,057,530
Ensembl chrNW_004955409:13,055,341...13,056,437
JBrowse link
G Sall2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:2,236,129...2,250,829
Ensembl chrNW_004955550:2,237,677...2,250,829
JBrowse link
G Scfd1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:29,805,909...29,903,208
Ensembl chrNW_004955409:29,805,909...29,903,208
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_004955409:35,867,944...35,870,847
Ensembl chrNW_004955409:35,867,944...35,870,847
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_004955409:22,192,549...22,243,090
Ensembl chrNW_004955409:22,189,181...22,247,467
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_004955409:23,949,794...24,421,944
Ensembl chrNW_004955409:23,952,595...24,421,307
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_004955550:1,762,905...1,765,254
Ensembl chrNW_004955550:1,762,907...1,765,254
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_004955409:37,467,151...37,513,533
Ensembl chrNW_004955409:37,468,583...37,513,533
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_004955409:37,119,189...37,171,300
Ensembl chrNW_004955409:37,119,378...37,173,310
JBrowse link
G Snx6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:26,323,940...26,353,675
Ensembl chrNW_004955409:26,319,951...26,352,994
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_004955409:12,542,353...12,622,165
Ensembl chrNW_004955409:12,542,401...12,620,971
JBrowse link
G Sptssa serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:26,460,208...26,460,854 JBrowse link
G Srp54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:25,977,226...26,016,351
Ensembl chrNW_004955409:25,977,226...26,016,351
JBrowse link
G Sstr1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:22,889,800...22,894,480
Ensembl chrNW_004955409:22,889,800...22,894,480
JBrowse link
G Strn3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:29,529,507...29,636,674 JBrowse link
G Stxbp6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:35,096,888...35,358,571
Ensembl chrNW_004955409:35,168,453...35,358,637
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_004955550:2,074,646...2,114,634
Ensembl chrNW_004955550:2,074,941...2,114,528
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,803,721...36,808,094
Ensembl chrNW_004955409:36,804,258...36,808,091
JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,208,797...36,214,830
Ensembl chrNW_004955409:36,208,797...36,214,830
JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:1,862,781...1,867,230
Ensembl chrNW_004955550:1,862,719...1,866,822
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_004955409:16,885,564...16,967,865
Ensembl chrNW_004955409:16,886,423...16,967,641
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_004955550:2,195,710...2,209,729
Ensembl chrNW_004955550:2,195,710...2,209,729
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_004955550:1,779,405...1,785,385
Ensembl chrNW_004955550:1,779,375...1,785,575
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_004955409:22,117,329...22,131,102
Ensembl chrNW_004955409:22,117,329...22,134,236
JBrowse link
G Tssk4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,190,182...36,191,801 JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:23,349,294...23,580,993
Ensembl chrNW_004955409:23,348,460...23,568,749
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:12,622,259...12,632,246
Ensembl chrNW_004955409:12,622,259...12,632,246
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955409:36,810,188...36,843,108
Ensembl chrNW_004955409:36,827,360...36,839,783
JBrowse link
G Znf219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004955550:1,854,330...1,861,836 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_004955435:5,268,746...5,271,237 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_004955512:1,703,750...1,918,321
Ensembl chrNW_004955512:1,707,503...1,917,513
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_004955422:17,768,469...17,778,976
Ensembl chrNW_004955422:17,768,469...17,779,003
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_004955512:2,037,803...2,267,197
Ensembl chrNW_004955512:2,039,115...2,267,099
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_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
JBrowse link
G Ache acetylcholinesterase (Cartwright blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
JBrowse link
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218
JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chrNW_004955559:1,008,208...1,013,023
Ensembl chrNW_004955559:1,008,208...1,013,023
JBrowse link
G Atrx ATRX chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chrNW_004955472:2,394,317...2,405,199 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041 RGD:10054048 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:10413886 RGD:13432082 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
JBrowse link
G Casp9 caspase 9 severity ISO protein:increased expression:striatum:
protein:increased expression:caudate nucleus:
RGD PMID:12095160 RGD:13432083 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
JBrowse link
G Cat catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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_004955468:3,046,544...3,049,217
Ensembl chrNW_004955468:3,047,931...3,049,080
JBrowse link
G Cebpb CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chrNW_004955445:8,060,432...8,061,289 JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chrNW_004955556:650,290...695,135
Ensembl chrNW_004955556:650,279...693,276
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_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO RGD PMID:19115380 RGD:2316196 NCBI chrNW_004955452:3,763,742...3,795,069
Ensembl chrNW_004955452:3,763,742...3,795,069
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_004955511:3,527,552...3,531,275
Ensembl chrNW_004955511:3,527,552...3,534,348
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_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149
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_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chrNW_004955533:39,237...54,881
Ensembl chrNW_004955533:39,284...54,837
JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chrNW_004955482:6,354,502...6,364,424
Ensembl chrNW_004955482:6,354,146...6,365,344
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex
RGD PMID:24728190 PMID:25568121 RGD:13432154 RGD:13432155 NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872
JBrowse link
G Dnah6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chrNW_004955424:2,575,333...2,788,742
Ensembl chrNW_004955424:2,575,496...2,787,739
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_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595
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_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573
JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178
JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chrNW_004955514:5,450,495...5,452,282 JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381
JBrowse link
G E2f1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chrNW_004955422:27,638,625...27,643,261
Ensembl chrNW_004955422:27,633,827...27,642,241
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345 RGD:10395348 NCBI chrNW_004955441:4,908,318...4,944,343 JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871
JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chrNW_004955464:11,873,368...11,885,366
Ensembl chrNW_004955464:11,873,368...11,885,369
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
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_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chrNW_004955481:3,671,728...3,681,279
Ensembl chrNW_004955481:3,670,111...3,685,051
JBrowse link
G Gja1 gap junction protein alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:3159462 PMID:6237280 RGD:10046047 RGD:13524508 NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chrNW_004955411:27,096,214...27,759,503
Ensembl chrNW_004955411:27,103,470...27,801,177
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_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B onset ISO DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)
RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145
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_004955414:4,424,245...4,919,399 JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015
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_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864
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_004955415:12,138,520...12,154,234
Ensembl chrNW_004955415:12,138,870...12,154,234
JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chrNW_004955500:6,692,656...6,707,453
Ensembl chrNW_004955500:6,693,668...6,709,864
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chrNW_004955440:5,084,198...5,137,577
Ensembl chrNW_004955440:5,084,081...5,139,348
JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chrNW_004955452:11,142,282...11,150,798
Ensembl chrNW_004955452:11,140,373...11,154,261
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment ISO protein:decreased expression:liver (mouse)
human gene in a mouse model
RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372 RGD:10402386 RGD:10402387 NCBI chrNW_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170
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_004955514:1,906,189...2,042,357
Ensembl chrNW_004955514:1,906,502...2,038,889
JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chrNW_004955427:8,814,298...8,871,671
Ensembl chrNW_004955427:8,814,298...8,871,720
JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chrNW_004955497:1,338,959...1,454,788
Ensembl chrNW_004955497:1,338,904...1,455,122
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_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762
JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chrNW_004955532:766,577...794,461
Ensembl chrNW_004955532:766,577...794,409
JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chrNW_004955475:243,666...278,064
Ensembl chrNW_004955475:243,666...278,627
JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
G Lep leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G LOC102023786 cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chrNW_004955410:27,086,405...27,089,255
Ensembl chrNW_004955410:27,086,405...27,089,255
JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
JBrowse link
G Map2 microtubule associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chrNW_004955457:5,678,826...5,816,114
Ensembl chrNW_004955457:5,678,436...5,875,024
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 onset
treatment
ISO DNa:SNO:promoter:rs5880308(human)
protein:increased expression:cortex,striatum,nucleus:
RGD PMID:18327563 PMID:19646509 RGD:10412311 RGD:10412314 NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808
JBrowse link
G Mbp myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
JBrowse link
G Mtnr1a melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 RGD:9686058 NCBI chrNW_004955403:22,636,212...22,658,566
Ensembl chrNW_004955403:22,636,212...22,658,566
JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chrNW_004955410:8,217,684...8,233,302
Ensembl chrNW_004955410:8,220,400...8,247,486
JBrowse link
G Ncor1 nuclear receptor corepressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chrNW_004955467:1,408,292...1,568,539
Ensembl chrNW_004955467:1,409,281...1,546,842
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305
JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
JBrowse link
G Npy neuropeptide Y no_association
onset
ISO mRNA:decreased expression:hypothalamus
DNA:SNP: :rs16147 (human)
DNA:SNP: :rs3037354 (human)
RGD PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606 RGD:10433112 RGD:10433553 NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chrNW_004955471:11,796,278...11,804,114
Ensembl chrNW_004955471:11,796,278...11,804,114
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_004955479:10,325,214...10,471,421
Ensembl chrNW_004955479:10,324,443...10,472,875
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269
JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chrNW_004955407:39,853,029...39,908,151
Ensembl chrNW_004955407:39,853,034...39,908,151
JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chrNW_004955407:39,090,718...39,165,363
Ensembl chrNW_004955407:39,087,952...39,165,370
JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chrNW_004955422:20,810,871...20,827,267
Ensembl chrNW_004955422:20,810,544...20,827,267
JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chrNW_004955467:9,423,540...9,447,530
Ensembl chrNW_004955467:9,421,256...9,447,530
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset
no_association
treatment
severity
ISO DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
DNA:snps, haplotypes:multiple (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
mRNA:decreased expression:caudate nucleus (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
mRNA:decreased expression:medium spiny neuron (mouse)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:subthalamic nucleus (rat)
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_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chrNW_004955451:14,378,186...14,394,910
Ensembl chrNW_004955451:14,389,533...14,394,169
JBrowse link
G Ppp1r9a protein phosphatase 1 regulatory subunit 9A ISO mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus
RGD PMID:20089533 RGD:10043799 NCBI chrNW_004955432:11,607,269...11,891,568
Ensembl chrNW_004955432:11,608,382...11,886,044
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chrNW_004955496:6,934,542...7,059,745
Ensembl chrNW_004955496:6,908,224...7,059,816
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_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 NCBI chrNW_004955493:7,225,472...7,243,078
Ensembl chrNW_004955493:7,224,983...7,242,852
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chrNW_004955407:33,873,427...33,951,762
Ensembl chrNW_004955407:33,873,383...33,951,498
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_004955588:290,497...338,438
Ensembl chrNW_004955588:290,168...338,426
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450
JBrowse link
G Sirt1 sirtuin 1 ISO human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex
RGD PMID:9949199 PMID:18538940 PMID:22179316 RGD:10395240 RGD:9585998 RGD:9586004 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
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_004955556:696,779...698,869
Ensembl chrNW_004955556:696,974...698,566
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194 RGD:13432195 NCBI chrNW_004955422:10,929,987...11,082,220
Ensembl chrNW_004955422:10,930,296...11,073,032
JBrowse link
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chrNW_004955437:9,850,279...9,862,412
Ensembl chrNW_004955437:9,855,434...9,861,929
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chrNW_004955445:13,663,474...13,669,102
Ensembl chrNW_004955445:13,661,209...13,669,102
JBrowse link
G Syne3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chrNW_004955438:17,093,612...17,178,177
Ensembl chrNW_004955438:17,094,586...17,177,216
JBrowse link
G Tbp TATA-box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077
JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chrNW_004955495:2,770,449...2,780,650
Ensembl chrNW_004955495:2,770,713...2,780,568
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_004955428:3,253,363...3,282,518
Ensembl chrNW_004955428:3,274,810...3,283,237
JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO OMIM:143100 MouseDO NCBI chrNW_004955476:105,347...152,415
Ensembl chrNW_004955476:105,347...154,615
JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISO OMIM:143100 MouseDO NCBI chrNW_004955405:15,915,756...15,997,777
Ensembl chrNW_004955405:15,915,756...15,997,777
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_004955415:14,523,517...14,535,701
Ensembl chrNW_004955415:14,524,354...14,533,700
JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,596,522...14,610,181
Ensembl chrNW_004955415:14,596,522...14,610,181
JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,000,257...15,022,712
Ensembl chrNW_004955415:15,000,257...15,022,712
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_004955415:14,665,450...14,669,456
Ensembl chrNW_004955415:14,664,849...14,672,478
JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,341,635...14,505,955
Ensembl chrNW_004955415:14,340,403...14,506,024
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181
JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,637,295...14,647,181
Ensembl chrNW_004955415:14,629,132...14,650,116
JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,762,672...15,806,454
Ensembl chrNW_004955415:15,792,239...15,806,454
JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,626,154...14,628,749
Ensembl chrNW_004955415:14,626,949...14,628,748
JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,311,769...16,324,962
Ensembl chrNW_004955415:16,311,621...16,325,019
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_004955415:13,756,752...13,763,764
Ensembl chrNW_004955415:13,756,889...13,763,120
JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,389,379...16,410,486
Ensembl chrNW_004955415:16,389,389...16,411,238
JBrowse link
G CUNH20orf141 chromosome unknown C20orf141 homolog ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,770,300...13,771,257 JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,085,404...14,098,220
Ensembl chrNW_004955415:14,085,404...14,098,856
JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,148,462...14,276,908
Ensembl chrNW_004955415:14,151,551...14,276,627
JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,673,700...13,734,344
Ensembl chrNW_004955415:13,673,700...13,734,344
JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,052,009...14,063,208
Ensembl chrNW_004955415:14,052,406...14,054,850
JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369
JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,513,183...14,514,140 JBrowse link
G Gnrh2p gonadotropin releasing hormone 2 pseudogene ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,970,416...13,974,147 JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,062,068...16,118,029
Ensembl chrNW_004955415:16,060,931...16,118,059
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_004955415:14,576,956...14,596,135
Ensembl chrNW_004955415:14,576,354...14,596,135
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_004955415:13,642,804...13,649,023
Ensembl chrNW_004955415:13,643,168...13,649,463
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,413,666...16,423,605
Ensembl chrNW_004955415:16,411,369...16,423,814
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_004955415:14,065,338...14,075,718
Ensembl chrNW_004955415:14,065,338...14,072,617
JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,691,918...14,704,782
Ensembl chrNW_004955415:14,695,438...14,703,672
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_004955415:16,345,472...16,379,922
Ensembl chrNW_004955415:16,346,253...16,379,021
JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,974,393...13,976,839
Ensembl chrNW_004955415:13,974,393...13,976,839
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,637,505...13,642,809
Ensembl chrNW_004955415:13,637,595...13,643,938
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,722,951...14,752,493
Ensembl chrNW_004955415:14,723,087...14,751,423
JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,786,243...13,792,914
Ensembl chrNW_004955415:13,782,986...13,792,914
JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673
JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515
JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,469,500...15,474,817
Ensembl chrNW_004955415:15,469,500...15,474,817
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_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,867,017...15,878,471
Ensembl chrNW_004955415:15,866,554...15,878,582
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_004955415:13,819,934...13,967,068
Ensembl chrNW_004955415:13,819,717...13,967,068
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_004955415:15,500,726...15,542,939
Ensembl chrNW_004955415:15,500,726...15,541,135
JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,755,539...14,816,046
Ensembl chrNW_004955415:14,755,539...14,816,188
JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:16,180,074...16,282,937
Ensembl chrNW_004955415:16,180,051...16,280,864
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_004955415:14,539,284...14,560,614
Ensembl chrNW_004955415:14,536,266...14,560,632
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_004955415:15,565,344...15,677,935
Ensembl chrNW_004955415:15,565,249...15,642,153
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_004955415:14,123,021...14,133,437
Ensembl chrNW_004955415:14,120,301...14,131,989
JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,937,438...14,971,874
Ensembl chrNW_004955415:14,937,131...14,989,972
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_004955415:13,522,638...13,530,725
Ensembl chrNW_004955415:13,520,530...13,531,466
JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,620,593...14,626,049
Ensembl chrNW_004955415:14,620,593...14,626,049
JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,212,152...13,249,097
Ensembl chrNW_004955415:13,212,152...13,249,102
JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,391,857...13,435,342
Ensembl chrNW_004955415:13,391,831...13,436,007
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422
JBrowse link
G Tmc2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,545,266...13,626,125
Ensembl chrNW_004955415:13,565,935...13,625,843
JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:15,733,134...15,743,078
Ensembl chrNW_004955415:15,733,134...15,742,909
JBrowse link
G Tmem239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:13,771,688...13,772,415
Ensembl chrNW_004955415:13,771,688...13,772,415
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_004955415:16,333,766...16,390,112
Ensembl chrNW_004955415:16,330,482...16,344,973
JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chrNW_004955415:14,025,908...14,063,204
Ensembl chrNW_004955415:14,023,082...14,040,307
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_004955415:13,791,611...13,813,500
Ensembl chrNW_004955415:13,791,611...13,813,500
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_004955541:1,969,197...2,020,868
Ensembl chrNW_004955541:1,969,194...2,017,588
JBrowse link
McLeod syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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_004955587:828,730...838,614
Ensembl chrNW_004955587:827,278...838,869
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_004955587:556,105...658,735
Ensembl chrNW_004955587:556,105...658,735
JBrowse link
G LOC102012042 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_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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_004955499:8,159,691...8,173,930 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_004955587:289,906...388,534
Ensembl chrNW_004955587:287,845...388,557
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_004955571:1,192,213...1,222,057
Ensembl chrNW_004955571:1,191,700...1,222,309
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_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959
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_004955478:7,416,609...7,429,817 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_004955478:7,376,240...7,396,647
Ensembl chrNW_004955478:7,376,712...7,396,647
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_004955512:2,037,803...2,267,197
Ensembl chrNW_004955512:2,039,115...2,267,099
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_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959
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_004955453:15,104,229...15,109,487
Ensembl chrNW_004955453:15,104,229...15,112,468
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_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172
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_004955453:14,196,728...14,204,344
Ensembl chrNW_004955453:14,196,927...14,203,826
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_004955453:15,117,978...15,145,895
Ensembl chrNW_004955453:15,116,093...15,146,041
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_004955453:13,937,745...13,961,664
Ensembl chrNW_004955453:13,935,826...13,961,664
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,203,798...14,214,760
Ensembl chrNW_004955453:14,206,065...14,213,729
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:15,008,225...15,015,030
Ensembl chrNW_004955453:15,008,368...15,015,520
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_004955453:14,471,625...14,474,082
Ensembl chrNW_004955453:14,472,757...14,473,896
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,394,853...14,431,774
Ensembl chrNW_004955453:14,397,700...14,433,204
JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:13,932,822...13,937,587
Ensembl chrNW_004955453:13,932,822...13,939,350
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,819,007...14,845,879
Ensembl chrNW_004955453:14,816,910...14,845,912
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,263,619...14,270,701
Ensembl chrNW_004955453:14,264,707...14,270,732
JBrowse link
G Cryba2 crystallin beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,438,658...14,444,469
Ensembl chrNW_004955453:14,441,007...14,444,497
JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,971,276...14,976,667
Ensembl chrNW_004955453:14,968,484...14,976,667
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_004955453:15,181,027...15,196,224
Ensembl chrNW_004955453:15,194,205...15,195,272
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
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_004955453:14,147,286...14,154,396
Ensembl chrNW_004955453:14,148,070...14,154,670
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,072,924...14,082,222
Ensembl chrNW_004955453:14,072,924...14,082,222
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,449,352...14,453,145
Ensembl chrNW_004955453:14,449,352...14,452,663
JBrowse link
G Glb1l galactosidase beta 1 like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,185,582...14,196,779
Ensembl chrNW_004955453:14,185,692...14,196,779
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:13,967,118...13,974,351
Ensembl chrNW_004955453:13,965,174...13,974,789
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_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747
JBrowse link
G LOC102004889 sterol 26-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
JBrowse link
G LOC102007967 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383
JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:13,905,992...13,932,652
Ensembl chrNW_004955453:13,906,013...13,925,681
JBrowse link
G Plcd4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,775,119...14,812,872
Ensembl chrNW_004955453:14,787,677...14,806,485
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_004955453:15,030,436...15,104,084
Ensembl chrNW_004955453:15,030,436...15,104,084
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_004955453:14,584,405...14,594,112
Ensembl chrNW_004955453:14,584,412...14,595,369
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_004955493:7,144,389...7,148,613 JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,126,416...14,145,347
Ensembl chrNW_004955453:14,126,416...14,145,347
JBrowse link
G Resp18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,106,430...14,111,920 JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,258,523...14,263,573
Ensembl chrNW_004955453:14,258,523...14,263,573
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,753,575...14,761,617
Ensembl chrNW_004955453:14,753,575...14,761,617
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
JBrowse link
G Slc23a3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,271,343...14,278,233
Ensembl chrNW_004955453:14,271,343...14,278,233
JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:13,979,080...14,033,718
Ensembl chrNW_004955453:13,976,674...14,033,252
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,182,167...14,185,569
Ensembl chrNW_004955453:14,182,066...14,185,584
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,727,779...14,753,534
Ensembl chrNW_004955453:14,728,583...14,753,534
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_004955453:15,083,179...15,100,197
Ensembl chrNW_004955453:15,092,522...15,099,021
JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:13,925,939...13,932,557
Ensembl chrNW_004955453:13,924,608...13,932,557
JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,679,945...14,720,025 JBrowse link
G Tuba4a tubulin alpha 4a ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,177,043...14,180,814
Ensembl chrNW_004955453:14,175,866...14,182,023
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,846,044...14,931,336
Ensembl chrNW_004955453:14,846,044...14,931,336
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,935,450...14,961,011
Ensembl chrNW_004955453:14,935,456...14,961,011
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,547,427...14,560,001
Ensembl chrNW_004955453:14,545,700...14,560,976
JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,222,423...14,225,681
Ensembl chrNW_004955453:14,221,002...14,225,681
JBrowse link
G Znf142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chrNW_004955453:14,766,665...14,786,403 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_004955437:14,510,488...14,628,768
Ensembl chrNW_004955437:14,510,488...14,628,768
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_004955413:2,703,030...2,711,612
Ensembl chrNW_004955413:2,703,030...2,711,612
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_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      nervous system disease 12349
        Neurologic Manifestations 9211
          Dyskinesias 2042
            choreatic disease 423
              3-methylglutaconic aciduria type 3 3
              Benign Familial Chorea 1
              Brain-Lung-Thyroid Syndrome 153
              Childhood-Onset Chorea with Psychomotor Retardation 1
              Choreoathetosis, Familial Inverted 0
              Huntington's disease + 188
              Huntington's disease-like 2 1
              Remitting Chorea with Nystagmus and Cataracts 0
              chorea gravidarum 0
              mitochondrial DNA depletion syndrome 16B 2
              neuroacanthocytosis + 11
              paroxysmal nonkinesigenic dyskinesia 1 50
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      nervous system disease 12349
        central nervous system disease 11072
          brain disease 10390
            movement disease 2391
              Dyskinesias 2042
                choreatic disease 423
                  3-methylglutaconic aciduria type 3 3
                  Benign Familial Chorea 1
                  Brain-Lung-Thyroid Syndrome 153
                  Childhood-Onset Chorea with Psychomotor Retardation 1
                  Choreoathetosis, Familial Inverted 0
                  Huntington's disease + 188
                  Huntington's disease-like 2 1
                  Remitting Chorea with Nystagmus and Cataracts 0
                  chorea gravidarum 0
                  mitochondrial DNA depletion syndrome 16B 2
                  neuroacanthocytosis + 11
                  paroxysmal nonkinesigenic dyskinesia 1 50
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
paths to the root