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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 chr22:11,751,026...11,891,407
Ensembl chr22:11,749,727...11,890,924
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607
JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr 9:122,443,492...122,572,089 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 chr12:30,385,877...30,416,302
Ensembl chr12:30,385,878...30,416,088
JBrowse link
G GLRX3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr 9:122,737,101...122,780,001
Ensembl chr 9:122,737,379...122,781,391
JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:28492532 PMID:28668776 PMID:29389947 PMID:29935962 More... NCBI chr 5:42,105,295...42,272,573
Ensembl chr 5:42,105,334...42,273,059
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:53,458,795...53,493,801 JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr24:13,100,914...13,123,017
Ensembl chr24:13,102,520...13,122,977
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr 9:122,089,768...122,376,320 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 ISO associated with Rheumatic Fever;DNA:polymorphisms (human) RGD PMID:17559688 RGD:5147792 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr24:13,999,908...14,399,038
Ensembl chr24:13,999,938...14,359,882
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 chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056
JBrowse link
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr24:13,379,287...13,382,596
Ensembl chr24:13,379,687...13,381,185
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr24:13,454,839...13,470,564
Ensembl chr24:13,455,589...13,473,505
JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:88,613,546...88,730,740
Ensembl chr  X:88,616,743...88,730,519
JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:32467598 NCBI chr 1:63,812,877...63,912,602
Ensembl chr 1:63,812,840...63,880,492
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO Dyskinesia, paroxysmal, PIGN-related OMIA PMID:15474685 PMID:27891564 PMID:28703446 PMID:33769611 PMID:36086931 More... NCBI chr18:17,589,582...17,725,823
Ensembl chr18:17,589,631...17,725,823
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr24:13,472,050...13,974,991
Ensembl chr24:13,473,395...13,680,176
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO choreoacanthocytosis, OMIM:200150 RGD PMID:11381253 RGD:1599747 NCBI chr12:88,140,842...88,380,966
Ensembl chr12:88,167,258...88,379,614
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 chr15:8,408,615...8,426,838
Ensembl chr15:8,408,400...8,429,990
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 chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
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 chr 6:38,974,455...39,032,780
Ensembl chr 6:39,001,467...39,032,347
JBrowse link
Benign Familial Chorea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-1 NK2 homeobox 1 ISO DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)
DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)
DNA:splice-site mutation:intron:c.464-9C>A (human)
RGD PMID:11971878 PMID:18788921 PMID:22825795 RGD:11073166 RGD:12914772 RGD:12914773 NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056
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 chr29:22,967,290...22,981,017
Ensembl chr29:22,967,374...22,979,622
JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,427,866...23,464,717
Ensembl chr29:23,427,573...23,464,394
JBrowse link
G ADCY4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,301,445...1,318,171
Ensembl chr24:1,301,506...1,316,868
JBrowse link
G AJUBA ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,341,841...23,352,630
Ensembl chr29:23,341,249...23,352,685
JBrowse link
G ANG angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,215,985...21,226,927 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 chr29:23,930,703...23,939,239
Ensembl chr29:23,929,216...23,938,553
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 chr13:13,825,831...13,826,957 JBrowse link
G ARF6 ARF GTPase 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,948,794...26,952,803
Ensembl chr24:26,949,388...26,950,074
JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:8,914,485...8,986,498
Ensembl chr24:8,928,252...8,988,302
JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,543,572...21,563,229
Ensembl chr29:21,546,064...21,562,558
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 chr24:11,580,379...11,708,320
Ensembl chr24:11,581,164...11,706,292
JBrowse link
G BRMS1L BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:12,630,194...12,678,120
Ensembl chr24:12,630,693...12,678,162
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 chr24:1,034,790...1,053,169
Ensembl chr24:1,035,947...1,052,844
JBrowse link
G CBLN3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,409,147...1,412,140
Ensembl chr24:1,410,406...1,411,667
JBrowse link
G CDH24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,416,449...23,427,764
Ensembl chr29:23,417,354...23,426,738
JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,485,966...23,488,615
Ensembl chr29:23,486,148...23,487,755
JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:11,541,226...11,545,690
Ensembl chr24:11,543,638...11,544,335
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,856,434...21,924,761
Ensembl chr29:21,856,263...21,924,787
JBrowse link
G CHMP4A charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,192,581...1,196,989
Ensembl chr24:1,192,842...1,197,742
JBrowse link
G CIDEB cell death inducing DFFA like effector b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 Ensembl chr24:1,287,932...1,291,573 JBrowse link
G CLEC14A C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:15,047,320...15,051,145
Ensembl chr24:15,048,214...15,049,689
JBrowse link
G CMA1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,471,767...1,475,062
Ensembl chr24:1,471,725...1,474,692
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 chr29:23,748,110...23,751,036
Ensembl chr29:23,748,548...23,750,651
JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,053,980...1,061,544
Ensembl chr24:1,054,488...1,061,578
JBrowse link
G CTSG cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,518,004...1,521,980
Ensembl chr24:1,518,119...1,520,709
JBrowse link
G CUNH14orf119 chromosome unknown C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,464,618...23,467,719 JBrowse link
G CUNH14orf93 chromosome unknown C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,356,885...23,381,273
Ensembl chr29:23,355,798...23,369,839
JBrowse link
G DAD1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:22,935,231...22,958,331
Ensembl chr29:22,935,005...22,958,414
JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,100,974...1,110,283
Ensembl chr24:1,101,653...1,111,965
JBrowse link
G DHRS1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,273,717...1,282,761
Ensembl chr24:1,273,659...1,282,812
JBrowse link
G DHRS2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:24,015,535...24,022,897
Ensembl chr29:24,016,071...24,022,500
JBrowse link
G DHRS4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:24,170,090...24,185,509
Ensembl chr29:24,169,818...24,185,634
JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,665,286...26,674,345
Ensembl chr24:26,665,106...26,674,063
JBrowse link
G DORIP1 dopamine receptor interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:22,015,251...22,026,008
Ensembl chr24:22,015,206...22,026,001
JBrowse link
G EAPP E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:11,343,214...11,370,069
Ensembl chr24:11,343,140...11,370,112
JBrowse link
G EDDM3A epididymal protein 3A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,252,538...21,253,661
Ensembl chr29:21,252,790...21,253,233
JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,272,508...21,275,840
Ensembl chr29:21,274,749...21,275,192
JBrowse link
G EFS embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,727,820...23,737,585
Ensembl chr29:23,726,245...23,736,157
JBrowse link
G EMC9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,124,905...1,127,574
Ensembl chr24:1,124,950...1,127,542
JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:22,255,750...22,327,191
Ensembl chr24:22,256,236...22,329,609
JBrowse link
G FBXO33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:16,174,116...16,206,955
Ensembl chr24:16,175,882...16,207,155
JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,116,201...1,118,814
Ensembl chr24:1,117,451...1,119,275
JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:22,236,032...22,254,905 JBrowse link
G FOXA1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094
JBrowse link
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:21,611,678...21,614,404 JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:15,886,441...15,909,137 JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,215,137...1,222,219
Ensembl chr24:1,215,357...1,225,716
JBrowse link
G GZMB granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,574,452...1,577,861
Ensembl chr24:1,574,453...1,577,798
JBrowse link
G GZMH granzyme H ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,545,819...1,549,376
Ensembl chr24:1,545,748...1,549,477
JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,308,144...23,322,864 JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,677,871...21,737,607
Ensembl chr29:21,678,559...21,731,430
JBrowse link
G HOMEZ homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,647,513...23,666,201
Ensembl chr29:23,644,545...23,658,977
JBrowse link
G IL25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,742,377...23,747,902
Ensembl chr29:23,744,449...23,747,176
JBrowse link
G INSM2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:12,340,659...12,343,663
Ensembl chr24:12,340,864...12,342,570
JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,165,892...1,174,660
Ensembl chr24:1,162,219...1,174,487
JBrowse link
G IRF9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,146,116...1,151,622
Ensembl chr24:1,146,618...1,151,546
JBrowse link
G JPH4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,939,262...23,949,646
Ensembl chr29:23,940,858...23,948,322
JBrowse link
G KHNYN KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,412,264...1,420,960
Ensembl chr24:1,413,306...1,419,852
JBrowse link
G KLHDC1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,742,309...26,805,928 JBrowse link
G KLHDC2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,816,634...26,834,057
Ensembl chr24:26,816,842...26,833,870
JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:22,041,491...22,078,788
Ensembl chr24:22,041,385...22,063,957
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:27,314,306...27,383,379
Ensembl chr24:27,314,283...27,383,342
JBrowse link
G LOC103228700 dehydrogenase/reductase SDR family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,020,086...1,032,242 JBrowse link
G LOC103229896 putative uncharacterized protein encoded by LINC01599 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:27,145,235...27,156,062 JBrowse link
G LOC103231361 ribonuclease pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,312,858...21,314,712
Ensembl chr29:21,313,095...21,313,553
JBrowse link
G LOC103231380 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,625,166...21,626,876 JBrowse link
G LOC103231392 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:22,026,778...22,043,817
Ensembl chr29:22,027,035...22,027,976
JBrowse link
G LOC103231435 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:22,087,016...22,089,274
Ensembl chr29:22,087,726...22,088,667
JBrowse link
G LOC103231469 polyadenylate-binding protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,692,252...23,697,882
Ensembl chr29:23,679,736...23,686,349
Ensembl chr29:23,679,736...23,686,349
JBrowse link
G LOC103231478 myosin-6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,753,251...23,780,822
Ensembl chr29:23,753,309...23,778,107
JBrowse link
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771
JBrowse link
G LOC119620302 olfactory receptor 10G2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868
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 chr24:18,421,057...18,712,096
Ensembl chr24:18,568,568...18,712,609
JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,236,863...23,243,192
Ensembl chr29:23,236,539...23,242,638
JBrowse link
G LRR1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,643,136...26,654,471
Ensembl chr24:26,643,486...26,657,364
JBrowse link
G LTB4R leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,294,453...1,301,113
Ensembl chr24:1,298,729...1,299,790
JBrowse link
G LTB4R2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,292,283...1,298,723
Ensembl chr24:1,293,587...1,294,756
JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:13,100,914...13,123,017
Ensembl chr24:13,102,520...13,122,977
JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:23,853,710...24,705,276
Ensembl chr24:23,856,533...24,318,531
JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,463,422...21,470,502
Ensembl chr29:21,463,612...21,470,699
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 chr29:21,967,309...21,981,251
Ensembl chr29:21,963,982...21,981,579
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 chr24:26,660,554...26,663,264
Ensembl chr24:26,661,049...26,662,392
JBrowse link
G MIA2 MIA SH3 domain ER export factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:15,997,817...16,127,881 JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:13,999,908...14,399,038
Ensembl chr24:13,999,938...14,359,882
JBrowse link
G MIS18BP1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:22,329,965...22,385,321
Ensembl chr24:22,344,596...22,378,898
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679
JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,194,380...23,198,960 JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,490,219...21,499,194
Ensembl chr29:21,488,808...21,496,757
JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,199,974...1,215,079 JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,834,457...26,906,668
Ensembl chr24:26,835,305...26,906,564
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 chr24:1,352,173...1,362,150
Ensembl chr24:1,352,291...1,362,680
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854
JBrowse link
G NGDN neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,840,583...23,848,726
Ensembl chr29:23,840,639...23,849,653
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 chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056
JBrowse link
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:13,379,287...13,382,596
Ensembl chr24:13,379,687...13,381,185
JBrowse link
G NOP9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,282,877...1,288,265
Ensembl chr24:1,282,873...1,288,148
JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:3,363,652...3,513,901
Ensembl chr24:3,360,831...3,514,435
JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,064,266...1,100,995
Ensembl chr24:1,064,664...1,066,278
JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,380,864...1,401,710
Ensembl chr24:1,381,483...1,401,750
JBrowse link
G OXA1L OXA1L mitochondrial inner membrane insertase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,131,273...23,137,470
Ensembl chr29:23,131,453...23,137,245
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:13,454,839...13,470,564
Ensembl chr24:13,455,589...13,473,505
JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,077,206...1,087,306
Ensembl chr24:1,077,447...1,087,607
JBrowse link
G PNN pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:15,949,015...15,956,969
Ensembl chr24:15,948,722...15,955,618
JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,682,627...26,736,266
Ensembl chr24:26,682,723...26,736,171
JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,671,906...23,675,340
Ensembl chr29:23,673,995...23,675,136
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 chr24:11,901,522...11,935,764
Ensembl chr24:11,900,604...11,935,560
JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:11,936,410...12,081,721
Ensembl chr24:11,936,410...12,083,519
JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:22,204,010...22,235,740
Ensembl chr24:22,216,451...22,239,051
JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:12,099,804...12,127,477
Ensembl chr24:12,099,937...12,127,309
JBrowse link
G PSMB11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,410,583...23,413,099
Ensembl chr29:23,411,557...23,412,459
JBrowse link
G PSMB5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,394,820...23,403,953
Ensembl chr29:23,390,401...23,403,658
JBrowse link
G PSME1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,122,086...1,124,907
Ensembl chr24:1,122,631...1,125,416
JBrowse link
G PSME2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,129,389...1,133,289
Ensembl chr24:1,129,419...1,132,596
JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,927,529...21,946,206
Ensembl chr29:21,927,107...21,946,012
JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,248,637...1,254,937
Ensembl chr24:1,248,393...1,266,254
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 chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622
JBrowse link
G RBM23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,267,941...23,287,097
Ensembl chr29:23,267,944...23,287,166
JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,157,135...1,165,927 JBrowse link
G REM2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,249,170...23,254,732
Ensembl chr29:23,250,334...23,253,988
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462
JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,505,792...21,520,610
Ensembl chr29:21,507,546...21,508,016
JBrowse link
G RNASE2 ribonuclease A family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,411,633...21,412,723
Ensembl chr29:21,412,062...21,412,544
JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,216,021...21,233,306
Ensembl chr29:21,216,477...21,232,699
JBrowse link
G RNASE6 ribonuclease A family member 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,285,708...21,287,452
Ensembl chr29:21,286,685...21,287,134
JBrowse link
G RNASE7 ribonuclease A family member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,515,069...21,517,963 JBrowse link
G RNASE8 ribonuclease A family member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,530,614...21,532,638
Ensembl chr29:21,531,675...21,532,139
JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,609,267...23,646,333
Ensembl chr29:23,611,965...23,644,935
JBrowse link
G RNF31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,133,589...1,146,020
Ensembl chr24:1,133,723...1,142,943
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,769,366...21,822,346
Ensembl chr29:21,762,809...21,822,249
JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:23,667,440...23,669,041
Ensembl chr24:23,668,304...23,668,948
JBrowse link
G RPL36AL ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,658,516...26,660,461 JBrowse link
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:26,621,394...26,631,509
Ensembl chr24:26,628,561...26,632,048
JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,992,227...22,008,651
Ensembl chr29:21,992,229...21,997,594
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 chr24:1,422,339...1,425,490 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 chr24:15,801,945...15,874,938
Ensembl chr24:15,801,509...15,874,994
JBrowse link
G SLC22A17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,717,829...23,724,439 JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:13,472,050...13,974,991
Ensembl chr24:13,473,395...13,680,176
JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,472,627...21,475,549
Ensembl chr29:21,473,123...21,475,252
JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,135,583...23,183,472
Ensembl chr29:23,139,267...23,180,966
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,493,987...23,556,834
Ensembl chr29:23,493,715...23,556,857
JBrowse link
G SNX6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:11,389,436...11,433,126
Ensembl chr24:11,388,329...11,433,545
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 chr24:27,183,571...27,302,201
Ensembl chr24:27,182,991...27,302,141
JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:11,264,578...11,298,816
Ensembl chr24:11,266,343...11,298,668
JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:11,802,671...11,846,534
Ensembl chr24:11,812,672...11,846,675
JBrowse link
G SSTR1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:15,000,190...15,006,757
Ensembl chr24:15,003,116...15,004,291
JBrowse link
G STXBP6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,761,659...2,012,533
Ensembl chr24:1,758,660...2,012,322
JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,822,520...21,855,552
Ensembl chr29:21,822,393...21,855,923
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,231,827...1,248,018
Ensembl chr24:1,232,004...1,245,462
JBrowse link
G THTPA thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,883,363...23,930,710
Ensembl chr29:23,926,813...23,929,981
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,222,617...1,225,981
Ensembl chr24:1,222,999...1,225,716
JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,174,808...1,181,558
Ensembl chr24:1,174,551...1,180,864
JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,573,831...21,577,932
Ensembl chr29:21,574,780...21,576,691
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 chr24:22,078,938...22,195,923
Ensembl chr24:22,078,158...22,195,917
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 chr29:21,946,311...21,966,197
Ensembl chr29:21,945,901...21,965,740
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 chr29:21,503,616...21,505,890
Ensembl chr29:21,504,299...21,505,799
JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:15,921,318...15,943,926
Ensembl chr24:15,922,995...15,943,842
JBrowse link
G TSSK4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:1,181,695...1,191,387
Ensembl chr24:1,189,063...1,191,287
JBrowse link
G TTC6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:14,418,650...14,626,637
Ensembl chr24:14,431,804...14,626,210
JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr24:27,173,859...27,182,941
Ensembl chr24:27,173,840...27,182,924
JBrowse link
G ZFHX2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:23,891,343...23,926,507
Ensembl chr29:23,892,443...23,905,767
JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr29:21,563,758...21,578,127
Ensembl chr29:21,564,213...21,567,247
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 chr20:32,799,493...32,803,502
Ensembl chr20:32,801,372...32,802,526
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 chr12:88,386,597...88,606,787
Ensembl chr12:88,385,377...88,605,845
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 chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719
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 chr12:88,140,842...88,380,966
Ensembl chr12:88,167,258...88,379,614
JBrowse link
Huntington's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase treatment ISO RGD PMID:152600 PMID:6237280 RGD:10046047 RGD:10047058 NCBI chr 5:8,274,310...8,380,973
Ensembl chr 5:8,315,952...8,379,549
JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr15:41,957,826...42,002,776 JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:105,383,408...105,419,146
Ensembl chr  X:105,382,693...105,419,095
JBrowse link
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr10:60,644,623...60,734,465
Ensembl chr10:60,644,635...60,734,475
JBrowse link
G ATF5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 6:43,085,634...43,090,234
Ensembl chr 6:43,084,665...43,091,751
JBrowse link
G ATRX ATRX chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:66,449,830...66,737,220
Ensembl chr  X:66,448,449...66,737,164
JBrowse link
G BAG1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr12:47,006,177...47,016,177 JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041 RGD:10054048 NCBI chr 6:42,186,028...42,193,105 JBrowse link
G BCHE butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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 chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:10413886 RGD:13432082 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899
JBrowse link
G CASP8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
JBrowse link
G CASP9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:
RGD PMID:12095160 RGD:13432083 NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930
JBrowse link
G CAT catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:17213233 PMID:21651979 RGD:10401191 RGD:6484269 NCBI chr 6:28,342,506...28,345,759
Ensembl chr 6:28,343,907...28,344,977
JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 2:13,780,538...13,782,639
Ensembl chr 2:13,781,160...13,782,194
JBrowse link
G CHAT choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr 9:42,159,367...42,216,137
Ensembl chr 9:42,162,601...42,214,705
JBrowse link
G CIB1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr29:8,777,202...8,781,027
Ensembl chr29:8,777,436...8,781,030
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688
JBrowse link
G CNR2 cannabinoid receptor 2 ISO RGD PMID:19115380 RGD:2316196 NCBI chr20:108,777,793...108,815,738
Ensembl chr20:108,813,579...108,814,661
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 chr 1:14,724,562...14,730,698
Ensembl chr 1:14,728,383...14,730,150
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 chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832
JBrowse link
G CREBBP CREB binding protein treatment
disease_progression
ISO protein:altered localization:nucleus RGD PMID:11264541 PMID:19291221 PMID:20448484 RGD:10059583 RGD:13432093 RGD:13432094 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943
JBrowse link
G CTSH cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr26:4,451,731...4,473,220
Ensembl chr26:4,451,774...4,472,855
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr11:117,555,328...117,580,419
Ensembl chr11:117,552,145...117,579,553
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 chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867
JBrowse link
G DNAH6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr14:22,357,139...22,712,614
Ensembl chr14:22,357,102...22,659,471
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 chr23:77,587,340...77,591,434 JBrowse link
G DRD2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414 RGD:7248682 NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736
JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690
JBrowse link
G DRD5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr27:40,267,681...40,270,061
Ensembl chr27:40,268,235...40,269,671
JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532
JBrowse link
G E2F1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 2:37,968,541...37,980,461
Ensembl chr 2:37,968,556...37,980,326
JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345 RGD:10395348 NCBI chr14:70,246,081...70,290,851
Ensembl chr14:70,247,168...70,296,463
JBrowse link
G ELK1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914
G EP300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979
JBrowse link
G FASLG Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
JBrowse link
G FOXP1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:16405510 RGD:11560524 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr11:6,569,029...6,572,877 JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257
JBrowse link
G GIT1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr16:23,313,629...23,329,665
Ensembl chr16:23,315,439...23,329,469
JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339
JBrowse link
G GLUL glutamate-ammonia ligase ISO RGD PMID:3159462 PMID:6237280 RGD:10046047 RGD:13524508 NCBI chr25:46,988,853...46,998,112
Ensembl chr25:46,989,205...47,000,555
JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GPX6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr17:44,046,748...44,058,881 JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr13:71,855,960...72,545,376
Ensembl chr13:71,855,794...72,325,857
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs8057394, rs2650427 (human)
DNA:SNPs: :rs1969060 (human)
RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chr 5:9,233,028...9,707,322
Ensembl chr 5:9,286,775...9,462,828
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 chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202
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 chr 1:79,636,636...80,206,471 JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chr 8:28,778,713...28,851,907 JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chr14:64,460,553...64,485,731
Ensembl chr14:64,460,703...64,485,378
JBrowse link
G HAP1 huntingtin associated protein 1 no_association
onset
ISO DNA:SNP:multiple
DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)
RGD PMID:18192679 PMID:20512606 PMID:22402331 PMID:22698993 PMID:24324398 More... RGD:10401859 RGD:13432575 RGD:13432576 RGD:13432577 RGD:13432578 RGD:13432579 NCBI chr16:64,515,013...64,524,270 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 chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex
RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chr23:44,246,296...44,263,127 JBrowse link
G HDAC7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr11:44,002,616...44,040,766
Ensembl chr11:44,003,736...44,039,902
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 4:69,664,784...69,690,343
Ensembl chr 4:69,665,417...69,688,686
JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr10:22,188,151...22,238,665
Ensembl chr10:22,188,110...22,238,671
JBrowse link
G HPCA hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr20:99,974,952...99,983,194
Ensembl chr20:99,975,742...99,980,728
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 chr 8:138,503,836...138,529,562
Ensembl chr 8:138,503,831...138,529,165
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr14:32,745,436...32,749,176
Ensembl chr14:32,743,708...32,748,577
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 chr27:45,493,467...45,657,690
Ensembl chr27:45,497,352...45,657,621
JBrowse link
G IFT57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr22:72,560,168...72,629,066
Ensembl chr22:72,560,221...72,632,158
JBrowse link
G IFT88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583
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 chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G IL6R interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr22:10,097,730...10,121,325
Ensembl chr22:10,097,746...10,121,840
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)
RGD PMID:9761455 PMID:19193873 PMID:21145001 RGD:6480685 RGD:6480875 RGD:6483009 NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842
JBrowse link
G KDM5C lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:49,306,472...49,356,151
Ensembl chr  X:49,321,173...49,356,100
JBrowse link
G L1CAM L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570
JBrowse link
G LEP leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220
JBrowse link
G LOC103226354 cytochrome c severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr21:33,251,825...33,253,298 JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:40,834,158...40,920,404
Ensembl chr  X:40,834,159...40,920,444
JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:40,936,789...41,054,547
Ensembl chr  X:40,936,711...41,054,641
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr10:95,319,649...95,431,106
Ensembl chr10:95,349,157...95,431,320
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 treatment
onset
ISO protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human)
RGD PMID:18327563 PMID:19646509 RGD:10412311 RGD:10412314 NCBI chr13:36,614,489...36,858,524
Ensembl chr13:36,615,633...36,858,601
JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:2,844,154...2,996,640
Ensembl chr18:2,868,795...2,997,046
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G MSH2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
JBrowse link
G MTNR1A melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 RGD:9686058 NCBI chr 7:132,423,619...132,445,881
Ensembl chr 7:132,424,052...132,444,860
JBrowse link
G NAPEPLD N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr21:72,174,451...72,224,932
Ensembl chr21:72,178,041...72,224,559
JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr16:15,442,315...15,629,411
Ensembl chr16:15,462,640...15,628,512
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 7:50,589,494...50,711,472
Ensembl chr 7:50,589,856...50,711,498
JBrowse link
G NGFR nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189
JBrowse link
G NOG noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174
JBrowse link
G NPY neuropeptide Y no_association
onset
ISO DNA:SNP: :rs16147 (human)
DNA:SNP: :rs3037354 (human)
mRNA:decreased expression:hypothalamus
RGD PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606 RGD:10433112 RGD:10433553 NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127
JBrowse link
G NPY2R neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 7:101,696,081...101,773,782
Ensembl chr 7:101,770,551...101,771,696
JBrowse link
G NRF1 nuclear respiratory factor 1 onset ISO mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human)
RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr21:98,227,088...98,377,095
Ensembl chr21:98,268,395...98,377,096
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr22:45,757,414...45,763,690 JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 9:13,142,036...13,176,996
Ensembl chr 9:13,150,426...13,177,021
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr25:3,350,798...3,405,040 JBrowse link
G PCP4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr 2:83,791,520...83,855,289
Ensembl chr 2:83,791,458...83,855,336
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chr 2:86,541,151...86,656,390
Ensembl chr 2:86,541,326...86,658,157
JBrowse link
G PLCB3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 1:9,964,850...9,982,573
Ensembl chr 1:9,966,618...9,982,317
JBrowse link
G POLR2A RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr16:6,860,487...6,889,054
Ensembl chr16:6,860,677...6,888,618
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO OMIM:143100 MouseDO NCBI chr17:36,695,546...36,779,554
Ensembl chr17:36,695,494...36,779,577
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment
onset
severity
no_association
ISO mRNA:decreased expression:medium spiny neuron (mouse)
mRNA:decreased expression:caudate nucleus (human)
DNA:snps, haplotypes:multiple (human)
protein:increased expression:brain (human)
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:subthalamic nucleus (rat)
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 chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582
JBrowse link
G PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chr16:66,530,640...66,541,025
Ensembl chr16:66,530,488...66,541,242
JBrowse link
G PPP1R9A protein phosphatase 1 regulatory subunit 9A ISO mRNA:decreased expression:caudate nucleus
mRNA:decreased expression:striatum(mouse)
RGD PMID:20089533 RGD:10043799 NCBI chr21:53,744,202...54,129,709
Ensembl chr21:53,747,857...54,127,005
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 7:49,149,044...49,478,796
Ensembl chr 7:49,148,933...49,321,013
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO protein:altered localization:nucleus
protein:increased phosphorylation, altered localization:nucleus
RGD PMID:21768291 RGD:6484534 NCBI chr 4:39,516,307...39,553,627 JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr13:88,856,056...90,329,379 JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 NCBI chr 5:26,953,980...26,970,120
Ensembl chr 5:26,950,391...26,970,079
JBrowse link
G RCAN1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr 2:78,561,212...78,658,023
Ensembl chr 2:78,562,795...78,571,498
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159
G SIN3A SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr26:7,971,208...8,060,888
Ensembl chr26:7,975,484...8,058,278
JBrowse link
G SIRT1 sirtuin 1 ISO protein:decreased expression:frontal cortex
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
RGD PMID:9949199 PMID:18538940 PMID:22179316 RGD:10395240 RGD:9585998 RGD:9586004 NCBI chr 9:63,463,059...63,497,893
Ensembl chr 9:63,462,389...63,497,867
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 chr 9:42,216,187...42,219,665
Ensembl chr 9:42,216,568...42,218,166
JBrowse link
G SLC1A2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194 RGD:13432195 NCBI chr 1:29,845,512...30,012,261
Ensembl chr 1:29,847,043...29,989,975
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr17:27,934,537...27,949,120
Ensembl chr17:27,931,945...27,949,006
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 2:20,340,163...20,345,873
Ensembl chr 2:20,342,681...20,346,122
JBrowse link
G SYNE3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr24:73,269,177...73,369,676
Ensembl chr24:73,269,163...73,354,553
JBrowse link
G TBP TATA-box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr13:97,661,905...97,678,640
Ensembl chr13:97,660,864...97,681,497
JBrowse link
G TFAM transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471
JBrowse link
G TRIP10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 6:6,308,678...6,321,141
Ensembl chr 6:6,308,666...6,320,255
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 chr 7:87,492,444...87,502,894
Ensembl chr 7:87,492,195...87,502,665
JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450
JBrowse link
G XPO5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr17:28,585,317...28,637,045
Ensembl chr17:28,585,536...28,635,519
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO OMIM:143100 MouseDO NCBI chr 1:45,819,877...45,873,302
Ensembl chr 1:45,820,339...45,854,299
JBrowse link
G ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 ISO OMIM:143100 MouseDO NCBI chr11:72,341,708...72,431,178
Ensembl chr11:72,342,335...72,431,675
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 chr 2:34,352,514...34,366,694
Ensembl chr 2:34,353,505...34,366,559
JBrowse link
G ADISSP adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,434,077...34,449,254
Ensembl chr 2:34,430,912...34,440,681
JBrowse link
G ADRA1D adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,859,651...34,888,684
Ensembl chr 2:34,860,483...34,887,779
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 chr 2:34,494,318...34,514,074
Ensembl chr 2:34,508,315...34,514,299
JBrowse link
G ATRN attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,157,240...34,335,902
Ensembl chr 2:34,157,293...34,335,923
JBrowse link
G AVP arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,761,066...33,764,608
Ensembl chr 2:33,761,140...33,763,172
JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901
JBrowse link
G CDC25B cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,482,709...34,493,737
Ensembl chr 2:34,483,771...34,494,071
JBrowse link
G CDS2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,867,065...32,936,456
Ensembl chr 2:32,874,699...32,935,813
JBrowse link
G CENPB centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,469,577...34,472,261
Ensembl chr 2:34,470,410...34,472,221
JBrowse link
G CHGB chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,210,079...32,224,123
Ensembl chr 2:32,209,433...32,224,204
JBrowse link
G CPXM1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,747,355...53,753,899
Ensembl chr 2:53,747,441...53,754,750
JBrowse link
G CRLS1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,094,610...32,127,186
Ensembl chr 2:32,091,519...32,127,170
JBrowse link
G DDRGK1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,846,591...33,879,770
Ensembl chr 2:33,860,439...33,880,101
JBrowse link
G DNAAF9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,920,749...34,084,805
Ensembl chr 2:33,920,689...34,084,953
JBrowse link
G EBF4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,786,397...53,850,935
Ensembl chr 2:53,794,161...53,838,668
JBrowse link
G FASTKD5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,818,942...33,832,154 JBrowse link
G FERMT1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,006,824...32,060,838
Ensembl chr 2:32,009,615...32,062,211
JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532
G GPCPD1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,522,953...32,585,204
Ensembl chr 2:32,523,236...32,584,184
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 chr 2:34,413,697...34,433,678
Ensembl chr 2:34,419,683...34,432,711
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 chr 2:53,875,991...53,882,069
Ensembl chr 2:53,875,390...53,881,716
JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,873,231...33,893,329
Ensembl chr 2:33,873,339...33,893,556
JBrowse link
G LRRN4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,078,993...32,092,725
Ensembl chr 2:32,083,313...32,091,660
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 chr 2:33,835,361...33,845,948
Ensembl chr 2:33,835,012...33,839,895
JBrowse link
G MAVS mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,534,433...34,555,406
Ensembl chr 2:34,541,229...34,552,823
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 chr 2:32,137,983...32,181,187
Ensembl chr 2:32,138,173...32,181,179
JBrowse link
G MRPS26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,725,930...33,728,206
Ensembl chr 2:33,726,001...33,727,824
JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,882,070...53,887,867
Ensembl chr 2:53,882,169...53,887,565
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,749,520...33,750,981
Ensembl chr 2:33,750,108...33,750,968
JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,577,859...34,612,258
Ensembl chr 2:34,578,207...34,611,987
JBrowse link
G PCED1A PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,522,166...33,528,001
Ensembl chr 2:33,521,667...33,527,476
JBrowse link
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,936,600...32,953,635
Ensembl chr 2:32,948,196...32,953,991
JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,535,516...54,551,085
Ensembl chr 2:54,535,240...54,551,104
JBrowse link
G PRND prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,344,375...33,349,089
Ensembl chr 2:33,344,808...33,345,338
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 chr 2:33,368,020...33,384,556
Ensembl chr 2:33,369,629...33,370,366
JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,791,214...32,801,637
Ensembl chr 2:32,793,305...32,801,054
JBrowse link
G PTPRA protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,559,634...33,724,446
Ensembl chr 2:33,559,697...33,722,137
JBrowse link
G RASSF2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,240,302...33,285,647
Ensembl chr 2:33,240,257...33,281,269
JBrowse link
G RNF24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,620,105...34,703,812
Ensembl chr 2:34,622,771...34,658,257
JBrowse link
G SHLD1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,265,882...32,381,411
Ensembl chr 2:32,265,788...32,381,395
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 chr 2:34,371,605...34,417,105
Ensembl chr 2:34,371,519...34,392,034
JBrowse link
G SLC23A2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,092,619...33,209,258
Ensembl chr 2:33,128,061...33,212,255
JBrowse link
G SLC4A11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,897,262...33,911,498
Ensembl chr 2:33,897,630...33,908,039
JBrowse link
G SMOX spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,064,240...54,073,341
Ensembl chr 2:54,063,999...54,073,367
JBrowse link
G SPEF1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,462,933...34,467,575
Ensembl chr 2:34,462,896...34,466,923
JBrowse link
G STK35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,382,703...54,431,658 JBrowse link
G TGM3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,189,888...54,236,714
Ensembl chr 2:54,189,902...54,221,973
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,100,262...54,152,019
Ensembl chr 2:54,101,063...54,139,923
JBrowse link
G TMC2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,903,305...54,002,599
Ensembl chr 2:53,903,842...53,979,535
JBrowse link
G TMEM230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,955,522...32,968,578
Ensembl chr 2:32,955,538...32,969,152
JBrowse link
G TMEM239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,503,509...33,507,085
Ensembl chr 2:33,506,482...33,506,940
JBrowse link
G TRMT6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,181,276...32,195,024
Ensembl chr 2:32,181,279...32,195,019
JBrowse link
G UBOX5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,782,848...33,832,302 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 chr 2:33,527,526...33,554,742
Ensembl chr 2:33,527,554...33,557,145
JBrowse link
G ZNF343 zinc finger protein 343 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,030,471...54,053,240 JBrowse link
Huntington's disease-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 5:72,972,373...73,095,710
Ensembl chr 5:72,972,361...73,094,231
JBrowse link
McLeod syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:34,482,869...34,908,680 JBrowse link
G CYBB 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
G DMD dystrophin ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:29,543,003...32,218,011 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
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
G LOC103231784 protein FAM47B ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:33,493,273...33,495,745
Ensembl chr  X:33,493,480...33,495,594
JBrowse link
G LOC103247710 protein FAM47B ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
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
G TMEM47 transmembrane protein 47 ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome ClinVar PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 NCBI chr  X:33,172,996...33,203,711
Ensembl chr  X:33,172,990...33,203,678
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...
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 chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567
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 chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654
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 chr12:88,140,842...88,380,966
Ensembl chr12:88,167,258...88,379,614
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
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 chr10:104,145,818...104,151,782
Ensembl chr10:104,146,222...104,151,752
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 chr10:105,113,729...105,122,948
Ensembl chr10:105,112,797...105,122,358
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 chr10:105,133,136...105,140,439
Ensembl chr10:105,133,216...105,140,141
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 chr10:104,098,275...104,144,043
Ensembl chr10:104,098,402...104,135,791
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 chr10:105,406,889...105,433,792 JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,123,039...105,133,057
Ensembl chr10:105,124,412...105,131,409
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,247,501...104,260,281
Ensembl chr10:104,247,899...104,260,240
JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,858,260...104,860,795
Ensembl chr10:104,858,461...104,859,564
JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,902,365...104,946,934
Ensembl chr10:104,902,401...104,944,401
JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,433,966...105,438,861
Ensembl chr10:105,432,912...105,438,896
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,473,215...104,502,321
Ensembl chr10:104,473,216...104,503,007
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,080,181...105,086,374
Ensembl chr10:105,080,856...105,085,225
JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,889,529...104,893,661
Ensembl chr10:104,889,592...104,892,485
JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,291,494...104,298,982
Ensembl chr10:104,293,073...104,299,258
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 chr10:104,052,709...104,056,388
Ensembl chr10:104,053,544...104,054,620
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,682,437...104,723,781
Ensembl chr10:104,682,673...104,726,687
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,312,348...105,320,869 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 chr10:105,185,987...105,193,749
Ensembl chr10:105,186,608...105,194,574
JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,266,527...105,294,553
Ensembl chr10:105,265,757...105,282,384
JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,879,790...104,886,722
Ensembl chr10:104,880,347...104,883,916
JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,140,296...105,149,911
Ensembl chr10:105,140,775...105,148,106
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,393,869...105,401,997
Ensembl chr10:105,393,891...105,402,008
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,141,177...104,145,557
Ensembl chr10:104,144,421...104,145,413
JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,960,296...104,966,596
Ensembl chr10:104,960,120...104,966,585
JBrowse link
G LOC103217855 C-X-C chemokine receptor type 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 ClinVar PMID:28492532 NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893
JBrowse link
G LOC103217904 tubulin alpha-4A chain ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,154,928...105,159,340
Ensembl chr10:105,153,933...105,158,655
JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,981,313...105,071,828
Ensembl chr10:104,982,380...105,068,999
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,445,800...105,467,187
Ensembl chr10:105,442,071...105,466,875
JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,512,156...104,540,555
Ensembl chr10:104,512,678...104,542,531
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 chr10:104,152,005...104,227,624
Ensembl chr10:104,152,081...104,229,219
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 chr10:104,717,144...104,732,005
Ensembl chr10:104,718,680...104,730,005
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More... NCBI chr 5:26,838,280...26,841,918
Ensembl chr 5:26,839,454...26,841,916
JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,196,508...105,216,665
Ensembl chr10:105,196,505...105,216,525
JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,230,482...105,235,907
Ensembl chr10:105,230,560...105,235,766
JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,086,367...105,091,980
Ensembl chr10:105,086,610...105,090,896
JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,568,405...104,575,900
Ensembl chr10:104,568,361...104,575,819
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,276,553...104,288,466 JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,072,114...105,078,809 JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,330,171...105,388,657
Ensembl chr10:105,330,171...105,387,810
JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,149,953...105,153,553
Ensembl chr10:105,150,421...105,153,693
JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,575,944...104,606,923
Ensembl chr10:104,576,666...104,607,946
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 chr10:104,155,823...104,174,135
Ensembl chr10:104,155,185...104,163,793
JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,439,006...105,445,667
Ensembl chr10:105,439,176...105,444,927
JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,612,946...104,656,926
Ensembl chr10:104,613,026...104,656,622
JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,348,220...104,473,046
Ensembl chr10:104,352,863...104,473,066
JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,311,048...104,350,846
Ensembl chr10:104,320,074...104,347,289
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,759,794...104,775,642
Ensembl chr10:104,760,045...104,774,487
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:105,110,419...105,113,614
Ensembl chr10:105,110,542...105,115,481
JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr10:104,541,268...104,563,625
Ensembl chr10:104,541,698...104,560,696
JBrowse link
paroxysmal nonkinesigenic dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLG5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:53,513,871...53,648,510
Ensembl chr 9:53,513,979...53,648,839
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 chr11:4,956,824...4,963,732
Ensembl chr11:4,956,856...4,958,343
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar
OMIM
PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 More... NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      nervous system disease 13230
        Neurologic Manifestations 9820
          Dyskinesias 2140
            choreatic disease 438
              3-methylglutaconic aciduria type 3 3
              Benign Familial Chorea 1
              Brain-Lung-Thyroid Syndrome 162
              Childhood-Onset Chorea with Psychomotor Retardation 1
              Choreoathetosis, Familial Inverted 0
              Huntington's disease + 190
              Huntington's disease-like 2 1
              Remitting Chorea with Nystagmus and Cataracts 0
              chorea gravidarum 0
              mitochondrial DNA depletion syndrome 16B 2
              neuroacanthocytosis + 13
              paroxysmal nonkinesigenic dyskinesia 1 51
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
Path 2
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      nervous system disease 13230
        central nervous system disease 11819
          brain disease 11089
            movement disease 2514
              Dyskinesias 2140
                choreatic disease 438
                  3-methylglutaconic aciduria type 3 3
                  Benign Familial Chorea 1
                  Brain-Lung-Thyroid Syndrome 162
                  Childhood-Onset Chorea with Psychomotor Retardation 1
                  Choreoathetosis, Familial Inverted 0
                  Huntington's disease + 190
                  Huntington's disease-like 2 1
                  Remitting Chorea with Nystagmus and Cataracts 0
                  chorea gravidarum 0
                  mitochondrial DNA depletion syndrome 16B 2
                  neuroacanthocytosis + 13
                  paroxysmal nonkinesigenic dyskinesia 1 51
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
paths to the root