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
Accession: DOID:12859
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 .
GViewer not supported for the selected species.
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
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
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
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
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
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 PMID:30642806 PMID:31130284 PMID:31737037 PMID:31780880 PMID:32581362 More...
NCBI chr 5:42,105,295...42,272,573
Ensembl chr 5:42,105,334...42,273,059
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
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
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
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
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
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 PMID:16220345 PMID:17576681 PMID:19176457 PMID:23379327 PMID:23430038 PMID:24129101 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25741868 PMID:26723978 PMID:28492532 PMID:28503612 PMID:29882472 PMID:30352709 More...
RGD:1600157
NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056
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
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
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
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
G
PIGN
phosphatidylinositol glycan anchor biosynthesis class N
ISO
Dyskinesia, paroxysmal, PIGN-related
OMIA
PMID:15474685 PMID:27891564 PMID:28703446 PMID:33769611 PMID:36086931 PMID:38003185 PMID:39119350 More...
NCBI chr18:17,589,582...17,725,823
Ensembl chr18:17,589,631...17,725,823
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
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
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
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 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17306754 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30165240 PMID:31500643 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34242285 PMID:37091313 More...
NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
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 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 PMID:31119193 PMID:31928268 PMID:32855858 PMID:32883240 More...
NCBI chr 6:38,974,455...39,032,780
Ensembl chr 6:39,001,467...39,032,347
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
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
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
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
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
G
ANG
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,215,985...21,226,927
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 More...
NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:25525159 PMID:25741868 PMID:28492532 More...
NCBI chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719
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 PMID:15824261 PMID:15918062 PMID:16199547 PMID:17516458 PMID:17576681 PMID:17998451 PMID:21145924 PMID:21598378 PMID:22038564 PMID:22777538 PMID:24033266 PMID:24974674 PMID:25733999 PMID:25741868 PMID:26467025 PMID:26870756 PMID:27400454 PMID:28492532 PMID:31192303 PMID:32131761 More...
NCBI chr12:88,140,842...88,380,966
Ensembl chr12:88,167,258...88,379,614
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
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
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
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
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
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
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
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
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
G
BAG1
BAG cochaperone 1
treatment
ISO
RGD
PMID:18400759
RGD:13506921
NCBI chr12:47,006,177...47,016,177
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26268247
RGD:13792684
NCBI chr11:6,569,029...6,572,877
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
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
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
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
G
GPX1
glutathione peroxidase 1
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr22:10,754,976...10,756,617
G
GPX6
glutathione peroxidase 6
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr17:44,046,748...44,058,881
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
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
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
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
G
GSR
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:11490092
RGD:10401927
NCBI chr 8:28,778,713...28,851,907
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
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 PMID:26000918 More...
RGD:10401859 RGD:13432575 RGD:13432576 RGD:13432577 RGD:13432578 RGD:13432579
NCBI chr16:64,515,013...64,524,270
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
LOC103226354
cytochrome c
severity
ISO
protein:altered localization:cytosol
RGD
PMID:12095160
RGD:13432083
NCBI chr21:33,251,825...33,253,298
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19857538
NCBI chr22:45,757,414...45,763,690
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
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
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
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
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
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
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
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 PMID:21595933 PMID:21651979 PMID:21757867 PMID:22589246 PMID:22813864 PMID:24383721 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
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
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
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
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
G
PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:19464273
RGD:10412729
NCBI chr13:88,856,056...90,329,379
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2458274 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7954833 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8880705 PMID:8909447 PMID:8939199 PMID:9266722 PMID:9270595 PMID:9279329 PMID:9384372 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10050890 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10612329 PMID:10631141 PMID:10665501 PMID:10790216 PMID:10889050 PMID:10953203 PMID:10970892 PMID:10987652 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11568919 PMID:11709001 PMID:11749972 PMID:11756421 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12690204 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15304595 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15558291 PMID:15739100 PMID:15753435 PMID:15776279 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16187142 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16314483 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16914329 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:17666888 PMID:17851697 PMID:18425766 PMID:18455951 PMID:18478114 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:20932979 PMID:21107135 PMID:21269331 PMID:21298055 PMID:21416485 PMID:21552571 PMID:21616973 PMID:21791975 PMID:21839748 PMID:21904617 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22488860 PMID:22561193 PMID:22584955 PMID:22717776 PMID:22788868 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23261545 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:23871665 PMID:24583440 PMID:24838726 PMID:24958194 PMID:25022973 PMID:25064618 PMID:25279981 PMID:25450391 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26000326 PMID:26268049 PMID:26323476 PMID:26488179 PMID:26578040 PMID:26713717 PMID:26740554 PMID:26757195 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27649893 PMID:27716661 PMID:27803826 PMID:28314738 PMID:28492532 PMID:29092967 PMID:29382530 PMID:29458424 PMID:29704165 PMID:29887139 PMID:29887141 PMID:31447551 PMID:32317127 PMID:32775516 PMID:32986314 PMID:32998248 PMID:33731477 PMID:34663460 PMID:35812092 More...
NCBI chr 2:33,368,020...33,384,556
Ensembl chr 2:33,369,629...33,370,366
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:11761473 PMID:11961232 PMID:13860532 PMID:17133513 PMID:17302777 PMID:25741868 PMID:25934153 PMID:28492532 PMID:28555782 PMID:30128557 PMID:30800707 More...
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
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
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 PMID:28492532 More...
NCBI chr12:88,140,842...88,380,966
Ensembl chr12:88,167,258...88,379,614
G
XK
X-linked Kx blood group antigen, Kell and VPS13A binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8619554 PMID:11761473
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
DES
desmin
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr10:105,312,348...105,320,869
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:15824259 PMID:16199547 PMID:16216955 PMID:17576681 PMID:19124534 PMID:20301400 PMID:21487022 PMID:22967746 PMID:24033266 PMID:25107857 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28893297 More...
NCBI chr10:104,152,005...104,227,624
Ensembl chr10:104,152,081...104,229,219
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
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 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24928127 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26467025 PMID:26561923 PMID:26598493 PMID:28492532 PMID:29334453 PMID:33661484 PMID:34782754 More...
NCBI chr 5:26,838,280...26,841,918
Ensembl chr 5:26,839,454...26,841,916
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:18414213 PMID:19266219 PMID:20430843 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26195193 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29330545 PMID:29356177 PMID:29545233 PMID:29738522 PMID:29778030 PMID:29933521 PMID:31069529 PMID:31152168 More...
NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all