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 .
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CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660671
NCBI chr 3:50,288,926...50,430,152
Ensembl chr 3:51,526,075...51,640,406
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DNMT1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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EBF3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr10:126,432,326...126,561,328
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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 chr 9:80,283,385...80,320,293
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GLRX3
glutaredoxin 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr10:126,730,314...126,775,918
Ensembl chr10:130,973,022...131,019,742
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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 chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
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KIF5A
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
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LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
associated with Rheumatic Fever;DNA:polymorphism (human)
RGD
PMID:17559688
RGD:5147792
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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MBIP
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
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MIPOL1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352
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NKX2-1
NK2 homeobox 1
susceptibility
ISO
DNA:transition: ; 745C>T ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
RGD ClinVar OMIM
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
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NKX2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339
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PAX9
paired box 9
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697
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PCDH19
protocadherin 19
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr X:89,504,404...89,622,354
Ensembl chr X:99,643,595...99,759,631
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PDE2A
phosphodiesterase 2A
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868 PMID:32467598
NCBI chr11:67,653,335...67,753,450
Ensembl chr11:70,875,552...70,975,322
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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 chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183
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SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633
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VPS13A
vacuolar protein sorting 13 homolog A
ISO
choreoacanthocytosis, OMIM:200150
RGD
PMID:11381253
RGD:1599747
NCBI chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
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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 chr 3:178,019,161...178,025,272
Ensembl chr 3:186,191,128...186,195,666
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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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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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 chr19:42,477,467...42,546,814
Ensembl chr19:51,073,322...51,130,555
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NKX2-1
NK2 homeobox 1
ISO
DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human) DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>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
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ABHD4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,434,357...3,448,471
Ensembl chr14:21,535,753...21,549,856
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ACIN1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,878,426...3,915,802
Ensembl chr14:21,975,370...22,012,092
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ADCY4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,094,899...5,111,603
Ensembl chr14:23,218,178...23,234,861
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AJUBA
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700
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AKAP6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166
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ANG
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
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AP1G2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,378,017...4,386,319
Ensembl chr14:22,471,343...22,479,801
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AP4S1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239
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ARF6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,482,191...30,486,741
Ensembl chr14:48,789,329...48,789,856
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ARHGAP5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,844,042...12,934,411
Ensembl chr14:31,036,511...31,125,349
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ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466
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BAZ1A
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473
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BRMS1L
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,579,323...16,628,005
Ensembl chr14:34,759,935...34,807,803
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C15H14orf119
chromosome 15 C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,915,675...3,918,781
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C15H14orf93
chromosome 15 C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,807,076...3,830,892
Ensembl chr14:21,905,028...21,928,242
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CARMIL3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,830,041...4,847,897
Ensembl chr14:22,954,274...22,971,981
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CBLN3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,200,297...5,206,018
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CDH24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,866,958...3,877,393
Ensembl chr14:21,964,897...21,972,528
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CEBPE
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219
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CFL2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473
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CHD8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361
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CHMP4A
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,985,642...4,989,985
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CLEC14A
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,014,672...19,018,551
Ensembl chr14:37,374,493...37,375,965
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CMA1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548
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CMTM5
CKLF like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,195,460...4,198,422
Ensembl chr14:22,290,354...22,292,592
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COCH
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943
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CPNE6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,848,845...4,856,085
Ensembl chr14:22,973,157...22,980,341
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CTSG
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,342,517...5,345,218
Ensembl chr14:23,466,265...23,468,960
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DAD1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,401,048...3,425,359
Ensembl chr14:21,502,618...21,526,793
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DCAF11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,890,956...4,900,296
Ensembl chr14:23,015,680...23,024,650
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DHRS1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,066,996...5,076,229
Ensembl chr14:23,190,323...23,199,587
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DHRS4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
Ensembl chr14:22,831,756...22,846,695
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DNAAF2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800
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DORIP1
dopamine receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,514,741...25,524,710
Ensembl chr14:43,843,018...43,852,917
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DTD2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,222,744...12,234,227
Ensembl chr14:30,419,810...30,431,296
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EAPP
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,273,149...15,297,241
Ensembl chr14:33,462,959...33,485,186
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EDDM3A
epididymal protein 3A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,608,955...1,610,069
Ensembl chr14:19,666,172...19,666,615
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EDDM3B
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,630,027...1,632,566
Ensembl chr14:19,688,641...19,689,084
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EFS
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,174,676...4,185,215
Ensembl chr14:22,270,952...22,278,732
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EGLN3
egl-9 family hypoxia inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241
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EMC9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,915,214...4,917,889
Ensembl chr14:23,039,400...23,042,054
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FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958
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FBXO33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,170,332...20,205,181
Ensembl chr14:38,526,437...38,558,626
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FITM1
fat storage inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,906,504...4,909,119
Ensembl chr14:23,031,818...23,033,459
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FKBP3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,732,308...25,750,885
Ensembl chr14:44,060,160...44,078,742
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FOXA1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:18,347,284...18,352,705
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FOXG1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
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FSCB
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,124,746...25,127,510
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G2E3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,338,212...11,398,545
Ensembl chr14:29,484,584...29,539,430
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GEMIN2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,884,100...19,906,823
Ensembl chr14:38,240,379...38,261,925
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GMPR2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,008,664...5,015,461
Ensembl chr14:23,132,227...23,139,044
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GPR33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789
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GZMB
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,399,888...5,403,200
Ensembl chr14:23,523,619...23,526,931
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GZMH
granzyme H
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,375,775...5,379,021
Ensembl chr14:23,499,513...23,502,674
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HAUS4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,766,343...3,777,591
Ensembl chr14:21,865,257...21,875,756
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HEATR5A
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,070,011...12,230,065
Ensembl chr14:30,267,861...30,395,893
G
HECTD1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,871,973...11,979,548
Ensembl chr14:30,070,567...30,176,915
G
HNRNPC
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,022,280...2,083,215
G
HOMEZ
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,093,357...4,106,323
Ensembl chr14:22,188,881...22,200,496
G
IL25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498
G
INSM2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,287,866...16,290,884
G
IPO4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,956,456...4,965,305
Ensembl chr14:23,079,910...23,088,610
G
IRF9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824
G
JPH4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,386,487...4,397,552
Ensembl chr14:22,479,813...22,490,924
G
KHNYN
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,205,650...5,216,436
Ensembl chr14:23,329,932...23,340,966
G
KLHDC1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,272,009...30,334,693
Ensembl chr14:48,580,779...48,642,724
G
KLHDC2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105
G
KLHL28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,540,348...25,578,933
Ensembl chr14:43,869,220...43,905,989
G
L2HGDH
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993
G
LOC100976049
dehydrogenase/reductase SDR family member 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,457,316...4,466,551
Ensembl chr14:22,551,645...22,558,926
G
LOC100978529
myosin-7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
G
LOC100979193
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,076,270...5,085,596
Ensembl chr14:23,199,608...23,208,877
G
LOC100980742
putative uncharacterized protein encoded by LINC01599
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,671,031...30,680,109
G
LOC100980776
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,474,364...2,475,305
Ensembl chr14:20,591,011...20,591,952
G
LOC100981889
non-secretory ribonuclease
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,759,482...1,760,873
Ensembl chr14:19,841,364...19,841,849
G
LOC100987236
signal recognition particle subunit SRP54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151
G
LOC100988821
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,969,308...1,970,494
Ensembl chr14:20,051,042...20,052,130
G
LOC100992784
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,386,394...2,387,532
Ensembl chr14:20,462,044...20,462,985
G
LOC100993494
olfactory receptor 10G2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,418,780...2,419,723
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 chr14:22,185,289...22,480,641
Ensembl chr14:40,676,278...40,814,212
G
LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936
G
LRR1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,176,924...30,192,847
Ensembl chr14:48,486,914...48,502,794
G
LTB4R
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,088,907...5,094,571
Ensembl chr14:23,215,469...23,216,527
G
MBIP
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746
G
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:27,434,904...28,274,969
Ensembl chr14:45,752,214...46,583,991
G
MDP1
magnesium dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,987,859...4,992,300
Ensembl chr14:23,112,062...23,116,606
G
METTL17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,804,655...1,811,771
Ensembl chr14:19,886,675...19,893,901
G
METTL3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906
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 chr14:30,199,011...30,201,566
G
MIA2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,006,513...20,123,814
Ensembl chr14:38,361,828...38,513,998
G
MIPOL1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352
G
MIS18BP1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,819,302...25,869,819
Ensembl chr14:44,147,183...44,189,888
G
MMP14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
G
MRPL52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,647,387...3,651,940
Ensembl chr14:21,746,646...21,751,108
G
MYH6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
G
NDRG2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,831,764...1,840,819
Ensembl chr14:19,913,674...19,967,470
G
NEDD8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,993,011...5,008,620
Ensembl chr14:23,117,271...23,132,249
G
NEMF
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258
G
NFATC4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249
G
NFKBIA
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,155,331...16,158,588
G
NGDN
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,288,325...4,296,671
Ensembl chr14:22,382,334...22,390,718
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...
G
NKX2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339
G
NOVA1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:7,193,308...7,345,535
Ensembl chr14:25,314,077...25,466,861
G
NPAS3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:13,701,786...14,568,738
Ensembl chr14:31,893,101...32,758,096
G
NRL
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187
G
NUBPL
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,338,341...12,628,346
G
NYNRIN
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905
G
OXA1L
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101
G
PABPN1
poly(A) binding protein nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,126,179...4,144,810
Ensembl chr14:22,220,986...22,239,403
G
PAX9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697
G
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,872,276...4,882,118
Ensembl chr14:22,996,813...23,006,775
G
PNN
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,945,185...19,952,922
Ensembl chr14:38,300,782...38,308,512
G
POLE2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,222,957...30,268,455
Ensembl chr14:48,531,945...48,576,700
G
PPP1R3E
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,118,827...4,122,294
Ensembl chr14:22,215,635...22,216,794
G
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842
G
PRKD1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030
G
PRMT5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018
G
PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657
G
PRPF39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,700,636...25,732,012
Ensembl chr14:44,027,452...44,059,865
G
PSMA6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347
G
PSMB11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,861,823...3,863,949
Ensembl chr14:21,959,146...21,960,048
G
PSMB5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,845,951...3,855,335
Ensembl chr14:21,943,432...21,952,169
G
PSME1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405
G
PSME2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296
G
RAB2B
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,276,798...2,294,730
Ensembl chr14:20,353,701...20,371,629
G
RABGGTA
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,041,694...5,047,775
Ensembl chr14:23,163,034...23,171,311
G
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430
G
RBM23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,710,492...3,736,415
Ensembl chr14:21,817,434...21,835,668
G
REC8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948
G
REM2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,700,397...3,704,897
Ensembl chr14:21,800,155...21,804,692
G
RIPK3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
G
RNASE1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,663,595...1,665,121
Ensembl chr14:19,720,127...19,720,597
G
RNASE13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,847,810...1,849,797
G
RNASE4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201
G
RNASE6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,642,819...1,644,582
Ensembl chr14:19,700,536...19,700,988
G
RNASE7
ribonuclease A family member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,857,213...1,858,781
Ensembl chr14:19,939,884...19,940,354
G
RNASE8
ribonuclease A family member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,872,595...1,873,331
Ensembl chr14:19,954,680...19,955,147
G
RNF212B
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,056,671...4,093,210
Ensembl chr14:22,153,247...22,188,319
G
RNF31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923
G
RPGRIP1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
G
RPL10L
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:27,254,150...27,255,381
Ensembl chr14:45,565,079...45,565,723
G
RPL36AL
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,196,924...30,198,944
Ensembl chr14:48,506,945...48,507,265
G
RPS29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,155,559...30,164,677
G
SALL2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,338,806...2,354,970
Ensembl chr14:20,416,071...20,431,000
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SCFD1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,401,378...11,508,418
Ensembl chr14:29,602,241...29,709,133
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SDR39U1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,216,102...5,219,234
Ensembl chr14:23,339,388...23,342,423
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SEC23A
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,802,612...19,873,076
Ensembl chr14:38,159,381...38,229,550
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SLC22A17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,165,419...4,172,002
Ensembl chr14:22,260,079...22,266,667
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SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633
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SLC39A2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,813,992...1,818,226
Ensembl chr14:19,896,112...19,898,728
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SLC7A7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057
G
SLC7A8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112
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SNX6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,319,526...15,388,326
Ensembl chr14:33,511,019...33,576,705
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SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764
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SPTSSA
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,190,833...15,219,882
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SSTR1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:18,968,969...18,973,560
Ensembl chr14:37,329,309...37,330,484
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STRN3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,668,426...11,798,776
Ensembl chr14:29,869,414...29,997,838
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STXBP6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,578,254...5,819,152
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SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074
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TGM1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
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THTPA
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,374,439...4,378,028
Ensembl chr14:22,467,506...22,471,356
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TINF2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
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TM9SF1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,965,352...4,972,476
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TMEM253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,913,655...1,917,874
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TOGARAM1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042
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TOX4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,294,892...2,316,901
Ensembl chr14:20,371,820...20,393,696
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TPPP2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,839,314...1,847,789
Ensembl chr14:19,927,478...19,928,973
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TRAPPC6B
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,917,745...19,940,589
Ensembl chr14:38,273,526...38,296,231
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TSSK4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,980,178...4,984,291
Ensembl chr14:23,104,197...23,108,037
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TTC6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:18,363,956...18,601,589
Ensembl chr14:36,740,892...36,962,078
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VCPKMT
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,695,992...30,707,327
Ensembl chr14:49,002,181...49,013,187
G
ZFHX2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,339,326...4,370,756
Ensembl chr14:22,433,148...22,463,925
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ZNF219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,904,632...1,919,304
Ensembl chr14:19,986,653...20,000,300
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GPR88
G protein-coupled receptor 88
ISO
ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation | ClinVar Annotator: match by term: GPR88-related condition
OMIM ClinVar
PMID:25741868 PMID:27123486 PMID:28492532
NCBI chr 1:103,194,721...103,200,712
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GNA14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Chorea-acanthocytosis
ClinVar
PMID:15918062
NCBI chr 9:47,196,338...47,423,388
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 chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327
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 chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
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ABAT
4-aminobutyrate aminotransferase
treatment
ISO
RGD
PMID:152600 PMID:6237280
RGD:10046047 RGD:10047058
NCBI chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420
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ACHE
acetylcholinesterase (Yt blood group)
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:19124532
RGD:5686822
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
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AGTR1
angiotensin II receptor type 1
ISO
protein:decreased expression:putamen:
RGD
PMID:8666063
RGD:10047397
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AIFM1
apoptosis inducing factor mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chr X:119,256,425...119,292,612
Ensembl chr X:129,550,287...129,586,271
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APOA4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21297956
RGD:5147768
NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
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ATF2
activating transcription factor 2
ISO
RGD
PMID:15878807
RGD:10047400
NCBI chr2B:62,348,245...62,444,428
Ensembl chr2B:179,799,365...179,895,007
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ATF5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chr19:46,941,480...46,946,697
Ensembl chr19:55,859,476...55,861,708
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ATRX
ATRX chromatin remodeler
ISO
RGD
PMID:22240898
RGD:11040584
NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486
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BAG1
BAG cochaperone 1
treatment
ISO
RGD
PMID:18400759
RGD:13506921
NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:11299004 PMID:18938217
RGD:10054041 RGD:10054048
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BCHE
butyrylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
G
BCL2
BCL2 apoptosis regulator
ISO
RGD
PMID:11299004
RGD:10054041
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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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 chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
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CASP3
caspase 3
treatment
ISO
RGD
PMID:10888929 PMID:15668790
RGD:10413886 RGD:13432082
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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CASP8
caspase 8
ISO
protein:altered localization:cerebellum:
RGD
PMID:10197541
RGD:734695
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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CASP9
caspase 9
severity
ISO
protein:increased expression:caudate nucleus: protein:increased expression:striatum:
RGD
PMID:12095160
RGD:13432083
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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CAT
catalase
ISO
protein:decreased expression:brain
RGD
PMID:19445928
RGD:5130752
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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CEBPA
CCAAT enhancer binding protein alpha
treatment
ISO
protein:altered localization:liver (mouse)
RGD
PMID:17213233 PMID:21651979
RGD:10401191 RGD:6484269
NCBI chr19:30,223,567...30,226,204
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CEBPB
CCAAT enhancer binding protein beta
ISO
protein:increased expression:brain (mouse)
RGD
PMID:14749423
RGD:10401227
NCBI chr20:46,533,163...46,535,282
G
CHAT
choline O-acetyltransferase
ISO
mRNA:decreased expression:cerebral cortex
RGD
PMID:16987871
RGD:5686805
NCBI chr10:44,574,925...44,629,618
G
CIB1
calcium and integrin binding 1
ISO
mRNA:increased expression:head of caudate nucleus (mouse)
RGD
PMID:24324398
RGD:10401859
NCBI chr15:68,919,377...68,923,213
G
CNR1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chr 6:86,017,141...86,044,889
G
CNR2
cannabinoid receptor 2
ISO
RGD
PMID:19115380
RGD:2316196
NCBI chr 1:23,066,153...23,108,065
Ensembl chr 1:24,050,008...24,051,090
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CNTF
ciliary neurotrophic factor
treatment
ISO
human gene in a cynomolgus monkey model
RGD
PMID:9121555 PMID:12040055
RGD:628474 RGD:734795
NCBI chr11:53,876,081...53,882,870
Ensembl chr11:57,336,792...57,341,121
G
CREB1
cAMP responsive element binding protein 1
ISO
protein:decreased phosphorylation:neuron:
RGD
PMID:11967539 PMID:16420411
RGD:10059577 RGD:734817
NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
G
CREBBP
CREB binding protein
disease_progression treatment
ISO
protein:altered localization:nucleus
RGD
PMID:11264541 PMID:19291221 PMID:20448484
RGD:10059583 RGD:13432093 RGD:13432094
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
G
CTSH
cathepsin H
ISO
protein:increased expression:caudate nucleus
RGD
PMID:7561949
RGD:5686393
NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
G
DIABLO
diablo IAP-binding mitochondrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chr12:119,808,718...119,829,378
Ensembl chr12:123,176,405...123,196,359
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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 chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985
G
DNAH6
dynein axonemal heavy chain 6
treatment
ISO
RGD
PMID:24282028
RGD:13432158
NCBI chr2A:84,569,813...84,873,380
Ensembl chr2A:86,129,741...86,431,912
G
DRD1
dopamine receptor D1
ISO
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:12111832 PMID:16905556 PMID:18815258
RGD:2302117 RGD:5686414 RGD:7248682
NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257
G
DRD2
dopamine receptor D2
ISO
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:12111832 PMID:16905556
RGD:5686414 RGD:7248682
NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
G
DRD3
dopamine receptor D3
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chr 3:111,265,834...111,317,176
Ensembl chr 3:118,187,636...118,237,403
G
DRD5
dopamine receptor D5
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chr 4:4,189,536...4,193,144
Ensembl chr 4:9,509,094...9,510,527
G
DUSP1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:23392662
RGD:7771544
NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
G
E2F1
E2F transcription factor 1
ISO
protein:increased expression:brain
RGD
PMID:18768156
RGD:2316262
NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604
G
EGFR
epidermal growth factor receptor
ISO
RGD
PMID:12890790
RGD:10047165
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
G
EGR1
early growth response 1
ISO
RGD
PMID:12191502
RGD:10395281
NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
G
EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
ISO
RGD
PMID:11468270 PMID:15567511
RGD:10395345 RGD:10395348
NCBI chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686
G
ELK1
ETS transcription factor ELK1
ISO
RGD
PMID:20126313
RGD:7488914
NCBI chr X:40,071,433...40,086,518
Ensembl chr X:47,967,492...47,982,579
G
EP300
E1A binding protein p300
ISO
RGD
PMID:12586550
RGD:13432192
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
G
F2
coagulation factor II, thrombin
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:21297956
RGD:5147768
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
G
FAAH
fatty acid amide hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chr 1:45,697,173...45,716,629
Ensembl chr 1:47,053,436...47,072,283
G
FAS
Fas cell surface death receptor
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
G
FASLG
Fas ligand
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
G
FOXP1
forkhead box P1
ISO
mRNA:decreased expression:caudate nucleus (human) mRNA:decreased expression:striatum (mouse)
RGD
PMID:16405510
RGD:11560524
NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26268247
RGD:13792684
NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
G
GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16943855
NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
G
GIT1
GIT ArfGAP 1
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15383276
RGD:1549448
NCBI chr17:27,185,025...27,201,146
Ensembl chr17:27,706,776...27,717,857
G
GJA1
gap junction protein alpha 1
ISO
RGD
PMID:10873295
RGD:7207854
NCBI chr 6:119,213,513...119,227,617
G
GLUL
glutamate-ammonia ligase
ISO
RGD
PMID:3159462 PMID:6237280
RGD:10046047 RGD:13524508
NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
G
GPX1
glutathione peroxidase 1
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
G
GPX6
glutathione peroxidase 6
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr 6:28,317,217...28,330,024
Ensembl chr 6:28,988,742...29,000,265
G
GRIK2
glutamate ionotropic receptor kainate type subunit 2
onset
ISO
DNA:repeat: (human)
RGD
PMID:10522893
RGD:1358638
NCBI chr 6:98,720,430...99,903,582
Ensembl chr 6:103,334,707...103,783,092
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 chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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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 chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
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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 chr11:83,514,978...84,077,650
Ensembl chr11:87,107,788...87,868,953
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GSR
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:11490092
RGD:10401927
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
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HAAO
3-hydroxyanthranilate 3,4-dioxygenase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chr2A:42,857,216...42,882,738
Ensembl chr2A:43,704,468...43,729,887
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HAP1
huntingtin associated protein 1
no_association onset
ISO
DNA:SNP: :rs4523977 (human) DNA:SNP:multiple DNA:SNP: :p.T441M (human)
RGD
PMID:18192679 PMID:20512606 PMID:22402331 PMID:22698993 PMID:24324398 PMID:26000918 More...
RGD:10401859 RGD:13432575 RGD:13432576 RGD:13432577 RGD:13432578 RGD:13432579
NCBI chr17:15,578,658...15,596,313
Ensembl chr17:15,797,949...15,810,299
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HDAC1
histone deacetylase 1
ISO
mRNA:increased expression:cerebral cortex protein:increased expression:striatum:
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
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HDAC3
histone deacetylase 3
ISO
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
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HDAC7
histone deacetylase 7
ISO
protein:decreased expression:brain:
RGD
PMID:21118817
RGD:9681718
NCBI chr12:40,913,301...40,950,542
Ensembl chr12:41,789,367...41,825,123
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:17702587
RGD:5508462
NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
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HNMT
histamine N-methyltransferase
ISO
RGD
PMID:21106039
RGD:5509774
NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315
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HPCA
hippocalcin
ISO
mRNA:decreased expression:brain (human)
RGD
PMID:19686238
RGD:9693681
NCBI chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524
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HSF1
heat shock transcription factor 1
treatment
ISO
human gene in a mouse model protein:decreased expression:liver (mouse)
RGD
PMID:16051598 PMID:19443488 PMID:24381308
RGD:10402372 RGD:10402386 RGD:10402387
NCBI chr 8:141,055,310...141,078,360
Ensembl chr 8:144,062,137...144,067,866
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression
RGD
PMID:22171050
RGD:5688778
NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
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HTRA2
HtrA serine peptidase 2
ISO
protein:increased expression:striatal neuron (mouse)
RGD
PMID:18662332
RGD:5688723
NCBI chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152
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HTT
huntingtin
treatment onset
ISO
ClinVar Annotator: match by term: HTT-related condition | ClinVar Annotator: match by term: Huntington disease DNA:repeats:cds:CAG (human)
OMIM ClinVar RGD
PMID:8242074 PMID:17940007 PMID:25741868 PMID:26740508 PMID:28492532
RGD:10403026 RGD:10403029
NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730
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IFT57
intraflagellar transport 57
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chr 3:105,287,086...105,348,872
Ensembl chr 3:112,222,128...112,282,069
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IFT88
intraflagellar transport 88
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204
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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 chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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IGF1R
insulin like growth factor 1 receptor
ISO
RGD
PMID:25140802
RGD:10045870
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
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IL6
interleukin 6
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chr 7:23,415,922...23,420,767
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IL6R
interleukin 6 receptor
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
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IP6K2
inositol hexakisphosphate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652713
NCBI chr 3:48,608,902...48,638,185
Ensembl chr 3:49,690,486...49,719,798
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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 chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
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KDM5C
lysine demethylase 5C
ISO
mRNA:increased expression:caudate nucleus (human)
RGD
PMID:23872847
RGD:9587806
NCBI chr X:45,377,609...45,440,025
Ensembl chr X:53,515,886...53,548,785
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L1CAM
L1 cell adhesion molecule
ISO
RGD
PMID:17093074
RGD:6483035
NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228
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LEP
leptin
ISO
protein:decreased expression:serum
RGD
PMID:19573560
RGD:5128676
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
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LOC100986481
cytochrome c
severity
ISO
protein:altered localization:cytosol
RGD
PMID:12095160
RGD:13432083
NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549
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MAOA
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chr X:36,106,680...36,197,907
Ensembl chr X:43,931,044...44,022,199
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MAOB
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chr X:36,217,710...36,333,516
Ensembl chr X:44,042,000...44,157,941
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MAP2
microtubule associated protein 2
ISO
RGD
PMID:20092829
RGD:6483090
NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
onset treatment
ISO
protein:increased expression:cortex,striatum,nucleus: DNa:SNO:promoter:rs5880308(human)
RGD
PMID:18327563 PMID:19646509
RGD:10412311 RGD:10412314
NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727
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MBP
myelin basic protein
ISO
protein:decreased expression:brain:
RGD
PMID:21906685
RGD:7349325
NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:striatum
RGD
PMID:21175737
RGD:13204827
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MSH2
mutS homolog 2
onset
ISO
RGD
PMID:12554681
RGD:10412317
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MTNR1A
melatonin receptor 1A
treatment
ISO
mRNA:decreased expression:brain
RGD
PMID:21994366
RGD:9686058
NCBI chr 4:178,693,869...178,720,351
Ensembl chr 4:190,897,192...190,921,677
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NAPEPLD
N-acyl phosphatidylethanolamine phospholipase D
ISO
RGD
PMID:23659592
RGD:10412654
NCBI chr 7:95,074,084...95,123,936
Ensembl chr 7:107,923,960...107,973,269
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NCOR1
nuclear receptor corepressor 1
ISO
protein:decreased expression:temporal cortex, neuron, nucleus (human)
RGD
PMID:10441327
RGD:5688338
NCBI chr17:34,934,452...35,121,195
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
mRNA:increased expression:striatum
RGD
PMID:24008671
RGD:10412688
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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NFKB1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:11211235
RGD:10045663
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
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NGFR
nerve growth factor receptor
ISO
mRNA:increased expression:caudate nucleus
RGD
PMID:18093249
RGD:10058981
NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
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NOG
noggin
treatment
ISO
RGD
PMID:17885687
RGD:10415531
NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
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NPY
neuropeptide Y
onset no_association
ISO
DNA:SNP: :rs3037354 (human) DNA:SNP: :rs16147 (human) mRNA:decreased expression:hypothalamus
RGD
PMID:1710657 PMID:23697793 PMID:24121255
RGD:10431606 RGD:10433112 RGD:10433553
NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
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NPY2R
neuropeptide Y receptor Y2
onset
ISO
DNA:SNP: :rs2234759 (human)
RGD
PMID:24121255
RGD:10431606
NCBI chr 4:147,542,551...147,586,397
Ensembl chr 4:159,401,080...159,402,231
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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 chr 7:121,574,061...121,719,604
Ensembl chr 7:134,113,482...134,240,158
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19857538
NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
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OPTN
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:22318854
RGD:6480499
NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
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PARP1
poly(ADP-ribose) polymerase 1
ISO
protein:increased expression:neuron,astrocyte:
RGD
PMID:15668790
RGD:10413886
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
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PCP4
Purkinje cell protein 4
ISO
protein:decreased expression:substantium
RGD
PMID:9697113
RGD:9850159
NCBI chr21:26,069,039...26,284,247
Ensembl chr21:39,587,400...39,618,734
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PDE9A
phosphodiesterase 9A
treatment
ISO
RGD
PMID:25315303
RGD:243048432
NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
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PLCB3
phospholipase C beta 3
ISO
RGD
PMID:22917585
RGD:13432582
NCBI chr11:59,608,651...59,626,289
Ensembl chr11:62,953,587...62,971,393
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POLR2A
RNA polymerase II subunit A
ISO
RGD
PMID:20089533
RGD:10043799
NCBI chr17:7,516,940...7,546,989
Ensembl chr17:7,502,807...7,532,521
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PPARGC1A
PPARG coactivator 1 alpha
treatment severity onset no_association
ISO
protein:increased expression:subthalamic nucleus (rat) protein:increased expression:brain (human) DNA:missense mutation:cds:pT612M (rs3736265) (human) mRNA:decreased expression:caudate nucleus (human) mRNA:decreased expression:medium spiny neuron (mouse) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) DNA:snps, haplotypes:multiple (human) DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
RGD
PMID:17018277 PMID:19133136 PMID:20736066 PMID:21211002 PMID:21493629 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 chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
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PPP1R1B
protein phosphatase 1 regulatory inhibitor subunit 1B
ISO
RGD
PMID:18502785
RGD:13515080
NCBI chr17:17,652,216...17,662,085
Ensembl chr17:17,868,965...17,878,120
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PPP1R9A
protein phosphatase 1 regulatory subunit 9A
ISO
mRNA:decreased expression:caudate nucleus mRNA:decreased expression:striatum(mouse)
RGD
PMID:20089533
RGD:10043799
NCBI chr 7:86,863,919...87,251,634
Ensembl chr 7:100,455,357...100,833,220
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:19733666
RGD:6483320
NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
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PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
protein:increased phosphorylation, altered localization:nucleus protein:altered localization:nucleus
RGD
PMID:21768291
RGD:6484534
NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:19464273
RGD:10412729
NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770
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PSMB9
proteasome 20S subunit beta 9
ISO
RGD
PMID:14684867
RGD:6483364
NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21362433
RGD:5508227
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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QPRT
quinolinate phosphoribosyltransferase
ISO
RGD
PMID:2527078
RGD:13524507
Ensembl chr16:30,049,806...30,070,469
G
RCAN1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270310
NCBI chr21:20,889,123...20,987,964
Ensembl chr21:34,258,355...34,267,025
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SETDB1
SET domain bifurcated histone lysine methyltransferase 1
ISO
protein:increased expression:neocortex, caudate nucleus (human)
RGD
PMID:17142323
RGD:9590159
NCBI chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442
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SIN3A
SIN3 transcription regulator family member A
ISO
protein:altered localization:cytoplasm
RGD
PMID:10441327
RGD:5688338
NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
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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 chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
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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 chr10:44,630,006...44,632,419
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SLC1A2
solute carrier family 1 member 2
ISO
RGD
PMID:9100675 PMID:17409241
RGD:13432194 RGD:13432195
NCBI chr11:35,223,811...35,392,799
Ensembl chr11:35,107,920...35,265,878
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SLC29A1
solute carrier family 29 member 1 (Augustine blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27567601
NCBI chr 6:43,815,006...43,830,290
Ensembl chr 6:45,099,243...45,113,689
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SOD2
superoxide dismutase 2
susceptibility
ISO
RGD
PMID:11161607
RGD:13464352
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SRSF6
serine and arginine rich splicing factor 6
ISO
protein:increased expression:striatum (human)
RGD
PMID:25038828
RGD:11039484
NCBI chr20:39,795,659...39,801,864
Ensembl chr20:40,888,560...40,891,853
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SYNE3
spectrin repeat containing nuclear envelope family member 3
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chr14:76,042,983...76,144,273
Ensembl chr14:95,369,440...95,427,737
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TBP
TATA-box binding protein
severity
ISO
protein:increased expression:middle frontal gyrus (human)
RGD
PMID:12531510
RGD:5684339
NCBI chr 6:168,714,214...168,732,744
Ensembl chr 6:173,800,240...173,826,909
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TFAM
transcription factor A, mitochondrial
ISO
mRNA:decreased expression:striatum
RGD
PMID:20529956 PMID:21595933
RGD:6770890 RGD:6771173
NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972
G
TIMP2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:12614934
RGD:1580169
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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TRIP10
thyroid hormone receptor interactor 10
ISO
protein:increased expression:striatum
RGD
PMID:12604778
RGD:11535137
NCBI chr19:5,772,225...5,784,078
Ensembl chr19:6,693,646...6,705,399
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TUG1
taurine up-regulated 1
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
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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 4:132,921,033...132,930,714
Ensembl chr 4:144,230,858...144,240,178
G
UCP2
uncoupling protein 2
ISO
mRNA:decreased expression:peripheral blood (human)
RGD
PMID:23029535
RGD:10045655
NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
G
XPO5
exportin 5
ISO
mRNA:increased expression:striatum (mouse)
RGD
PMID:21035445
RGD:11041745
NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029
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ZDHHC13
zinc finger DHHC-type palmitoyltransferase 13
ISO
OMIM:143100
MouseDO
NCBI chr11:19,143,181...19,202,424
Ensembl chr11:19,056,902...19,115,261
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ZDHHC17
zinc finger DHHC-type palmitoyltransferase 17
ISO
OMIM:143100
MouseDO
NCBI chr12:74,281,716...74,371,885
Ensembl chr12:77,132,723...77,222,509
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ADAM33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,750,158...3,764,262
Ensembl chr20:3,508,620...3,521,628
G
ADISSP
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,836,066...3,850,936
Ensembl chr20:3,593,404...3,608,267
G
ADRA1D
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:4,242,788...4,271,295
Ensembl chr20:4,040,888...4,068,018
G
AP5S1
adaptor related protein complex 5 subunit sigma 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
Ensembl chr20:3,659,526...3,664,347
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ATRN
attractin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,556,445...3,733,322
Ensembl chr20:3,315,278...3,486,628
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AVP
arginine vasopressin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,169,094...3,172,900
G
BMP2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610
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C21H20orf141
chromosome 21 C20orf141 homolog
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,909,087...2,909,970
Ensembl chr20:2,672,649...2,673,510
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CDC25B
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
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CDS2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,146,754...5,218,051
Ensembl chr20:4,939,578...5,002,977
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CENPB
centromere protein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,864,902...3,867,790
Ensembl chr20:3,622,529...3,624,329
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CHGB
chromogranin B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,905,854...5,919,758
Ensembl chr20:5,688,837...5,859,738
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CPXM1
carboxypeptidase X, M14 family member 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,888,062...2,894,614
Ensembl chr20:2,651,390...2,661,001
G
CRLS1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:6,003,915...6,037,853
Ensembl chr20:5,786,880...5,820,285
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DDRGK1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,276,292...3,290,433
Ensembl chr20:3,038,779...3,052,789
G
DNAAF9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,334,937...3,495,391
Ensembl chr20:3,095,697...3,254,388
G
EBF4
EBF family member 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,800,909...2,868,157
G
FASTKD5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,232,902...3,246,237
G
FERMT1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:6,063,480...6,120,206
Ensembl chr20:5,856,287...5,902,251
G
GFRA4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,740,538...3,745,601
G
GNRH2P
gonadotropin releasing hormone 2 pseudogene
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,130,267...3,132,396
G
GPCPD1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,547,190...5,613,849
Ensembl chr20:5,336,003...5,397,448
G
HSPA12B
heat shock protein family A (Hsp70) member 12B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,815,293...3,835,683
Ensembl chr20:3,572,535...3,593,021
G
IDH3B
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,766,598...2,772,571
Ensembl chr20:2,529,510...2,535,570
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ITPA
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
G
LRRN4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:6,037,097...6,052,341
Ensembl chr20:5,820,854...5,834,178
G
LZTS3
leucine zipper tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,248,955...3,259,932
Ensembl chr20:3,011,611...3,022,573
G
MAVS
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,885,044...3,903,554
Ensembl chr20:3,659,559...3,701,089
G
MCM8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,945,034...5,993,725
Ensembl chr20:5,729,174...5,775,133
G
MRPS26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,132,569...3,134,896
G
NOP56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,760,689...2,766,596
Ensembl chr20:2,523,619...2,529,509
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OXT
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,157,246...3,159,013
G
PANK2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748
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PCED1A
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,926,265...2,932,094
Ensembl chr20:2,689,947...2,695,331
G
PCNA
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
G
PDYN
prodynorphin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
G
PRND
prion like protein doppel
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:4,749,111...4,755,647
Ensembl chr20:4,548,403...4,548,933
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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 chr20:4,713,616...4,728,847
Ensembl chr20:4,523,155...4,523,916
G
PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,311,043...5,319,148
Ensembl chr20:5,102,997...5,106,655
G
PTPRA
protein tyrosine phosphatase receptor type A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,962,701...3,125,282
Ensembl chr20:2,801,905...2,888,195
G
RASSF2
Ras association domain family member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:4,804,802...4,845,633
Ensembl chr20:4,603,414...4,641,529
G
RNF24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,962,944...4,054,318
Ensembl chr20:3,764,059...3,807,533
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SHLD1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,753,262...5,858,728
Ensembl chr20:5,537,488...5,642,107
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SIGLEC1
sialic acid binding Ig like lectin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,769,118...3,795,678
Ensembl chr20:3,526,791...3,552,309
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SLC23A2
solute carrier family 23 member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:4,874,185...5,024,750
Ensembl chr20:4,670,294...4,790,800
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SLC4A11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,311,640...3,324,966
Ensembl chr20:3,074,804...3,086,157
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SMOX
spermine oxidase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:4,167,417...4,206,956
Ensembl chr20:3,965,616...4,004,468
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SNRPB
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,571,393...2,580,642
Ensembl chr20:2,335,499...2,344,763
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SPEF1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,858,548...3,863,150
Ensembl chr20:3,615,358...3,619,390
G
STK35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,214,815...2,292,341
Ensembl chr20:1,981,730...1,997,556
G
TGM3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,328,145...2,455,842
Ensembl chr20:2,175,160...2,219,561
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TGM6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,509,000...2,543,650
Ensembl chr20:2,259,725...2,306,743
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TMC2
transmembrane channel like 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,667,175...2,750,058
Ensembl chr20:2,409,961...2,513,365
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TMEM230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,119,775...5,133,079
Ensembl chr20:4,882,980...4,925,869
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TMEM239
transmembrane protein 239
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,910,478...2,911,850
Ensembl chr20:2,674,024...2,674,700
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TRMT6
tRNA methyltransferase 6 non-catalytic subunit
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:5,932,217...5,944,930
Ensembl chr20:5,715,015...5,727,726
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UBOX5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:3,196,189...3,246,238
Ensembl chr20:2,958,062...3,008,905
G
VPS16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,931,553...2,956,604
Ensembl chr20:2,695,335...2,720,030
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ZNF343
zinc finger protein 343
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr20:2,591,608...2,644,128
Ensembl chr20:2,357,049...2,367,530
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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 chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235
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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:28,567,102...29,031,601
Ensembl chr X:36,200,790...36,662,304
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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:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733
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DYNLT3
dynein light chain Tctex-type 3
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:30,289,242...30,298,033
Ensembl chr X:37,996,729...38,006,855
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FAM47A
family with sequence similarity 47 member A
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:26,764,406...26,767,087
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FAM47C
family with sequence similarity 47 member C
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:29,991,037...29,995,205
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LANCL3
LanC like family member 3
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:30,021,481...30,134,830
Ensembl chr X:37,731,552...37,838,564
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LOC100982531
cytochrome b-245 heavy chain
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:30,230,394...30,267,379
Ensembl chr X:37,939,704...37,973,183
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MAGEB16
MAGE family member B16
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:28,444,872...28,450,693
Ensembl chr X:36,081,171...36,083,807
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PRRG1
proline rich and Gla domain 1
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:29,806,505...29,914,627
Ensembl chr X:37,433,328...37,541,340
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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:27,277,397...27,307,540
Ensembl chr X:34,810,272...34,836,876
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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...
NCBI chr X:30,136,046...30,182,541
Ensembl chr X:37,846,539...37,892,348
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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 chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
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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 chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
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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 chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
G
XK
X-linked Kx blood group antigen, Kell and VPS13A binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8619554 PMID:11761473
NCBI chr X:30,136,046...30,182,541
Ensembl chr X:37,846,539...37,892,348
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AAMP
angio associated migratory cell protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,523,495...105,529,550
Ensembl chr2B:224,121,531...224,127,369
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ABCB6
ATP binding cassette subfamily B member 6 (LAN blood group)
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626
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ANKZF1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,487,377...106,494,258
Ensembl chr2B:225,078,322...225,085,205
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ARPC2
actin related protein 2/3 complex subunit 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643
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ASIC4
acid sensing ion channel subunit family member 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,770,714...106,796,044
Ensembl chr2B:225,361,477...225,386,081
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ATG9A
autophagy related 9A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,477,007...106,487,249
Ensembl chr2B:225,067,590...225,078,065
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CATIP
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,615,244...105,627,114
Ensembl chr2B:224,213,335...224,223,583
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CDK5R2
cyclin dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,217,926...106,220,444
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CFAP65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,260,872...106,299,594
Ensembl chr2B:224,854,262...224,892,490
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CHPF
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,796,215...106,801,081
Ensembl chr2B:225,386,262...225,390,886
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CNOT9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133
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CNPPD1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,429,610...106,435,887
Ensembl chr2B:225,022,210...225,028,410
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CRYBA2
crystallin beta A2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,248,236...106,252,081
Ensembl chr2B:224,841,620...224,844,836
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CTDSP1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,658,394...105,664,571
Ensembl chr2B:224,254,460...224,262,000
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CXCR1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890
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CXCR2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
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CYP27A1
cytochrome P450 family 27 subfamily A member 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
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DES
desmin
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
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DNAJB2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
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DNPEP
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,631,392...106,645,100
Ensembl chr2B:225,221,703...225,247,699
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FEV
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,238,933...106,243,499
G
GLB1L
galactosidase beta 1 like
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,494,214...106,503,001
Ensembl chr2B:225,085,163...225,093,610
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GMPPA
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,756,115...106,764,280
Ensembl chr2B:225,346,029...225,354,116
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GPBAR1
G protein-coupled bile acid receptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119
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IHH
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
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LOC100988698
mitochondrial chaperone BCS1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
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MVP-DT
MVP divergent transcript
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...
G
NHEJ1
non-homologous end joining factor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788
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OBSL1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567
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PLCD4
phospholipase C delta 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,864,706...105,895,114
Ensembl chr2B:224,461,261...224,490,345
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 chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046
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PRKAG3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,085,299...106,139,298
Ensembl chr2B:224,679,831...224,687,705
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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...
Ensembl chr16:30,183,352...30,187,862
G
PTPRN
protein tyrosine phosphatase receptor type N
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700
G
RESP18
regulated endocrine specific protein 18
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916
G
RETREG2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,435,938...106,441,428
Ensembl chr2B:225,028,498...225,034,024
G
RNF25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,921,875...105,930,034
Ensembl chr2B:224,517,286...224,525,253
G
SLC11A1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
G
SLC23A3
solute carrier family 23 member 3
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,418,754...106,427,931
Ensembl chr2B:225,011,825...225,020,503
G
SPEG
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910
G
STK16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,502,953...106,506,470
Ensembl chr2B:225,093,645...225,098,504
G
STK36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583
G
TMBIM1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:16199547 PMID:28492532
NCBI chr2B:105,533,578...105,551,969
Ensembl chr2B:224,131,478...224,143,170
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TMEM198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,801,303...106,807,872
Ensembl chr2B:225,391,343...225,397,937
G
TTLL4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,968,840...106,016,034
Ensembl chr2B:224,563,691...224,610,431
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TUBA4A
tubulin alpha 4a
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,507,842...106,512,155
Ensembl chr2B:225,093,643...225,102,188
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USP37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,708,070...105,826,435
Ensembl chr2B:224,304,520...224,422,228
G
VIL1
villin 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550
G
WNT10A
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
G
WNT6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171
G
ZFAND2B
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:106,464,364...106,467,217
Ensembl chr2B:225,055,969...225,058,647
G
ZNF142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839
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 chr10:74,311,249...74,447,312
Ensembl chr10:76,972,573...77,110,115
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 chr12:5,027,333...5,037,136
Ensembl chr12:4,950,938...4,952,425
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 chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644
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