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 chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774
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DNMT1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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EBF3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr14:138,819,846...138,935,504
Ensembl chr14:138,819,848...138,935,462
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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 1:250,187,568...250,220,716
Ensembl chr 1:250,194,230...250,220,716
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GLRX3
glutaredoxin 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr14:139,072,554...139,108,063
Ensembl chr14:139,072,575...139,111,249
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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 chr 6:29,416,574...29,592,874
Ensembl chr 6:29,417,603...29,592,706
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KIF5A
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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MBIP
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr 7:63,659,223...63,684,545
Ensembl chr 7:63,659,232...63,687,552
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540
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MIPOL1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr 7:62,517,130...62,796,046
Ensembl chr 7:62,515,039...62,796,000
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NKX2-1
NK2 homeobox 1
susceptibility
ISO
ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA DNA:transition: ; 745C>T
OMIM ClinVar RGD
PMID:9536098 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:16220345 PMID:17576681 PMID:19176457 PMID:23379327 PMID:23430038 PMID:24129101 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25741868 PMID:26723978 PMID:28492532 PMID:28503612 PMID:29882472 PMID:30352709 More...
RGD:1600157
NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575
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NKX2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr 7:63,418,149...63,425,651
Ensembl chr 7:63,423,403...63,426,514
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PAX9
paired box 9
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
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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:82,031,365...82,153,159
Ensembl chr X:82,036,199...82,151,652
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PDE2A
phosphodiesterase 2A
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868 PMID:32467598
NCBI chr 9:7,136,637...7,227,966
Ensembl chr 9:7,136,644...7,227,964
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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 chr 1:159,317,734...159,417,335
Ensembl chr 1:159,317,734...159,417,327
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SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
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VPS13A
vacuolar protein sorting 13 homolog A
ISO
choreoacanthocytosis, OMIM:200150
RGD
PMID:11381253
RGD:1599747
NCBI chr 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200
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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 chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270
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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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
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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 chr 6:51,917,956...51,967,624
Ensembl chr 6:51,917,379...51,964,488
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NKX2-1
NK2 homeobox 1
ISO
DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) DNA:splice-site mutation:intron:c.464-9C>A (human) DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)
RGD
PMID:11971878 PMID:18788921 PMID:22825795
RGD:11073166 RGD:12914772 RGD:12914773
NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575
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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 chr 7:76,396,548...76,431,836
Ensembl chr 7:76,396,484...76,431,809
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ACIN1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,951,203...75,989,234
Ensembl chr 7:75,951,203...75,989,231
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ADCY4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,955,410...74,972,440
Ensembl chr 7:74,956,220...74,972,196
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AJUBA
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,063,009...76,072,884
Ensembl chr 7:76,063,058...76,076,585
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AKAP6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:66,913,541...67,462,147
Ensembl chr 7:66,915,881...67,375,177
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ANG
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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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 chr 7:75,533,131...75,549,490
Ensembl chr 7:75,533,202...75,549,488
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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 chr 7:68,420,286...68,475,643
Ensembl chr 7:68,393,285...68,471,722
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ARF6
ADP ribosylation factor 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,697,582...179,717,299
Ensembl chr 1:179,713,299...179,717,841
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ARHGAP5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197
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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 chr 7:78,043,995...78,067,546
Ensembl chr 7:78,042,057...78,064,913
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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 chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889
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BCL2L2
BCL2 like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,765,603...75,770,743
Ensembl chr 7:75,763,078...75,769,763
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BRMS1L
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,083,286...64,123,852
Ensembl chr 7:64,083,289...64,123,857
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C1H14orf28
chromosome 1 C14orf28 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,145,918...175,156,597
Ensembl chr 1:175,145,913...175,156,606
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C7H14orf119
chromosome 7 C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,947,765...75,951,047
Ensembl chr 7:75,947,769...75,950,956
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C7H14orf93
chromosome 7 C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,033,750...76,061,877
Ensembl chr 7:76,045,686...76,058,891
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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 chr 7:75,222,528...75,241,243
Ensembl chr 7:75,222,521...75,241,277
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CBLN3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,865,931...74,868,443
Ensembl chr 7:74,864,114...74,868,445
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CDH24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,990,185...76,001,133
Ensembl chr 7:75,990,220...76,001,130
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CEBPE
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,926,652...75,929,949
Ensembl chr 7:75,927,662...75,929,769
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CFL2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512
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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 chr 7:77,719,476...77,780,148
Ensembl chr 7:77,719,582...77,780,146
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CHMP4A
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,089,092...75,093,796
Ensembl chr 7:75,089,423...75,097,761
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CIDEB
cell death inducing DFFA like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,982,941...74,985,776
Ensembl chr 7:74,982,855...74,985,775
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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 chr 7:61,825,688...61,827,960
Ensembl chr 7:61,826,015...61,832,808
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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 chr 7:75,707,132...75,709,809
Ensembl chr 7:75,701,741...75,710,003
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COCH
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
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CPNE6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,213,643...75,219,031
Ensembl chr 7:75,213,644...75,219,031
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DAD1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,432,040...76,457,403
Ensembl chr 7:76,432,051...76,457,192
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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 chr 7:75,169,701...75,181,137
Ensembl chr 7:75,168,992...75,180,953
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DHRS1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,992,120...75,002,154
Ensembl chr 7:74,992,115...75,002,148
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DHRS4
dehydrogenase/reductase (SDR family) member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,242,121...75,255,594
Ensembl chr 7:75,242,124...75,255,598
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DNAAF2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,482,189...179,491,136
Ensembl chr 1:179,482,208...179,491,142
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DTD2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,105,268...68,118,220
Ensembl chr 7:68,106,224...68,116,986
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EAPP
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,240,209...65,263,201
Ensembl chr 7:65,240,220...65,263,272
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EDDM3B
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,233,991...78,236,747
Ensembl chr 7:78,233,991...78,236,747
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EFS
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,720,033...75,731,615
Ensembl chr 7:75,722,183...75,731,610
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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 chr 7:65,805,513...65,833,536
Ensembl chr 7:65,805,522...65,833,529
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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 chr 7:75,159,150...75,161,917
Ensembl chr 7:75,159,236...75,161,829
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FAM177A1
family with sequence similarity 177 member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473
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FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685
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FBXO33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:169,877,189...169,915,856
Ensembl chr 1:169,877,197...169,915,798
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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 chr 7:75,166,986...75,168,240
Ensembl chr 7:75,166,912...75,168,245
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FKBP3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,317,558...175,332,705
Ensembl chr 1:175,317,559...175,332,987
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FOXA1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220
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FOXG1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:70,656,603...70,660,236
Ensembl chr 7:70,658,685...70,660,145
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FSCB
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:174,732,612...174,734,834
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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 chr 7:68,854,410...68,917,070
Ensembl chr 7:68,852,777...68,916,992
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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 chr 1:169,676,152...169,701,475
Ensembl chr 1:169,676,156...169,701,481
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GMPR2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,060,680...75,070,079
Ensembl chr 7:75,060,676...75,070,084
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GPR33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895
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GZMB
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,705,499...74,708,781
Ensembl chr 7:74,705,409...74,708,790
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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 chr 7:76,085,613...76,097,954
Ensembl chr 7:76,085,608...76,097,953
G
HEATR5A
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,143,597...68,259,087
Ensembl chr 7:68,211,624...68,259,794
G
HECTD1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,318,167...68,422,403
Ensembl chr 7:68,318,417...68,422,394
G
HNRNPC
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,921,098...77,978,550
Ensembl chr 7:77,921,145...77,973,078
G
HOMEZ
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,789,184...75,798,027
Ensembl chr 7:75,789,185...75,798,026
G
IL25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,710,453...75,717,688
Ensembl chr 7:75,709,995...75,714,355
G
INSM2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,372,361...64,378,366
Ensembl chr 7:64,374,823...64,376,495
G
IPO4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,103,971...75,110,027
Ensembl chr 7:75,100,273...75,110,446
G
IPO4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,109,844...75,118,739
Ensembl chr 7:75,110,082...75,118,733
G
IRF9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,133,800...75,139,641
Ensembl chr 7:75,126,622...75,139,640
G
JPH4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,522,349...75,532,983
Ensembl chr 7:75,522,630...75,532,982
G
KHNYN
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,854,209...74,872,491
Ensembl chr 7:74,854,379...74,874,882
G
KLHDC1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,540,222...179,605,556
Ensembl chr 1:179,540,547...179,605,628
G
KLHDC2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,609,026...179,623,168
Ensembl chr 1:179,604,921...179,633,156
G
KLHL28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,164,028...175,199,177
Ensembl chr 1:175,164,040...175,178,727
G
L2HGDH
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:180,020,863...180,069,146
G
LOC100154047
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,761,602...74,772,950
G
LOC100510915
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,528,181...77,529,122
Ensembl chr 7:77,528,181...77,529,122
G
LOC100512910
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,592,790...77,594,408
Ensembl chr 7:77,592,790...77,593,731
G
LOC100517834
olfactory receptor 10G2-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,547,096...77,548,227
G
LOC100626020
ribonuclease 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,092,656...78,096,093
G
LOC100736765
myosin-6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644
G
LOC102163838
non-secretory ribonuclease-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,179,285...78,180,221
G
LOC110261607
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,992,961...77,998,062
Ensembl chr 7:77,996,783...77,997,718
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 chr 1:171,906,130...172,177,726
Ensembl chr 1:171,906,198...172,177,720
G
LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,149,304...76,159,397
Ensembl chr 7:76,149,307...76,158,891
G
LRR1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,461,399...179,475,337
Ensembl chr 1:179,462,247...179,475,334
G
LTB4R
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,972,723...74,978,266
Ensembl chr 7:74,974,308...74,975,357
G
LTB4R2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,978,871...74,983,811
Ensembl chr 7:74,978,876...74,983,768
G
MBIP
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:63,659,223...63,684,545
Ensembl chr 7:63,659,232...63,687,552
G
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:176,770,045...177,595,012
Ensembl chr 1:176,770,071...177,593,876
G
MDP1
magnesium dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,087,443...75,088,944
Ensembl chr 7:75,087,468...75,089,227
G
METTL17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,138,237...78,145,322
Ensembl chr 7:78,138,233...78,145,331
G
METTL3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,661,945...77,679,459
Ensembl chr 7:77,662,058...77,695,934
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 chr 1:179,478,464...179,479,804
Ensembl chr 1:179,477,992...179,479,801
G
MIA2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:169,777,581...169,868,308
G
MIPOL1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:62,517,130...62,796,046
Ensembl chr 7:62,515,039...62,796,000
G
MIR208B
microRNA mir-208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,667,786...75,667,865
Ensembl chr 7:75,667,786...75,667,865
G
MIS18BP1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,401,386...175,449,399
Ensembl chr 1:175,401,390...175,448,276
G
MMP14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
G
MRPL52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,187,447...76,191,647
Ensembl chr 7:76,187,446...76,191,901
G
MYH7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225
G
NDRG2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,111,736...78,121,216
Ensembl chr 7:78,112,536...78,121,215
G
NEDD8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,069,947...75,085,905
Ensembl chr 7:75,070,161...75,085,899
G
NEMF
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,622,728...179,671,225
Ensembl chr 1:179,622,755...179,670,996
G
NFATC4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,918,982...74,929,688
Ensembl chr 7:74,918,984...74,929,600
G
NFKBIA
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
G
NGDN
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,621,334...75,629,447
G
NKX2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 More...
NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575
G
NKX2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:63,418,149...63,425,651
Ensembl chr 7:63,423,403...63,426,514
G
NOP9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,985,748...74,992,108
Ensembl chr 7:74,985,753...74,992,946
G
NOVA1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:72,805,138...72,961,257
Ensembl chr 7:72,805,230...72,961,258
G
NPAS3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,924,986...66,800,820
Ensembl chr 7:65,928,075...66,800,991
G
NRL
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,199,048...75,211,655
Ensembl chr 7:75,206,719...75,210,529
G
NUBPL
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552
G
NYNRIN
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,877,910...74,898,596
Ensembl chr 7:74,879,260...74,898,568
G
OXA1L
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,234,710...76,266,700
Ensembl chr 7:76,230,889...76,266,429
G
PABPN1
poly(A) binding protein nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,752,571...75,756,522
Ensembl chr 7:75,751,760...75,756,700
G
PAX9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
G
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,187,195...75,197,613
Ensembl chr 7:75,187,197...75,197,733
G
PNN
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:169,725,649...169,734,003
Ensembl chr 1:169,725,649...169,734,003
G
POLE2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,495,278...179,529,891
Ensembl chr 1:179,495,214...179,529,896
G
PPP1R3E
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,770,813...75,782,717
Ensembl chr 7:75,776,720...75,780,649
G
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921
G
PRKD1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863
G
PRMT5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989
G
PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
G
PRPF39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,285,219...175,317,245
Ensembl chr 1:175,285,270...175,317,298
G
PSMA6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491
G
PSMB11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,005,609...76,006,728
Ensembl chr 7:76,005,612...76,006,703
G
PSMB5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,014,576...76,021,922
G
PSME1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,161,830...75,164,531
Ensembl chr 7:75,160,766...75,164,810
G
PSME2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,154,570...75,157,871
Ensembl chr 7:75,153,965...75,157,870
G
RAB2B
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,698,907...77,717,211
Ensembl chr 7:77,689,551...77,716,772
G
RABGGTA
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,021,716...75,028,229
Ensembl chr 7:75,021,755...75,028,875
G
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694
G
RBM23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,120,725...76,132,148
Ensembl chr 7:76,124,944...76,136,596
G
REC8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,118,743...75,127,759
Ensembl chr 7:75,118,744...75,125,537
G
REM2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,141,015...76,149,162
Ensembl chr 7:76,143,726...76,150,147
G
RIPK3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
G
RNASE1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,199,007...78,214,832
Ensembl chr 7:78,213,005...78,214,821
G
RNASE13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,096,249...78,107,768
G
RNASE4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,244,284...78,244,931
Ensembl chr 7:78,243,691...78,244,930
G
RNASE6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,220,131...78,221,665
Ensembl chr 7:78,220,131...78,221,665
G
RNF212B
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,798,895...75,831,455
Ensembl chr 7:75,796,882...75,829,620
G
RPGRIP1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,813,964...77,903,973
Ensembl chr 7:77,813,775...77,903,928
G
RPL10L
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:176,603,177...176,604,116
Ensembl chr 1:176,603,248...176,603,892
G
RPL36AL
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,476,638...179,477,820
Ensembl chr 1:179,476,640...179,479,147
G
RPS29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,454,923...179,456,847
Ensembl chr 1:179,454,928...179,461,631
G
SALL2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,552,357...77,653,380
Ensembl chr 7:77,638,848...77,653,376
G
SCFD1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,694,579...68,851,055
Ensembl chr 7:68,712,773...68,851,008
G
SDR39U1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,851,049...74,855,740
Ensembl chr 7:74,851,202...74,858,921
G
SEC23A
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:61,113,760...61,184,218
Ensembl chr 7:61,113,802...61,193,258
G
SLC22A17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,734,724...75,741,115
Ensembl chr 7:75,734,871...75,741,112
G
SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
G
SLC39A2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,127,628...78,132,900
Ensembl chr 7:78,129,237...78,131,819
G
SLC7A7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,198,256...76,235,402
G
SLC7A8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931
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SNX6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,156,476...65,205,249
Ensembl chr 7:65,156,478...65,205,239
G
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220
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SPTSSA
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,302,887...65,325,877
Ensembl chr 7:65,302,858...65,326,728
G
SRP54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195
G
SSTR1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:61,890,560...61,900,567
Ensembl chr 7:61,890,563...61,894,978
G
STRN3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,470,761...68,577,272
Ensembl chr 7:68,470,877...68,577,273
G
STXBP6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,294,859...74,551,370
Ensembl chr 7:74,294,948...74,552,433
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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 chr 7:77,780,968...77,814,519
Ensembl chr 7:77,781,316...77,814,505
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TGM1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300
G
THTPA
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,548,430...75,553,721
Ensembl chr 7:75,545,973...75,552,904
G
TINF2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979
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TMEM253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,991,665...78,033,146
Ensembl chr 7:78,030,446...78,032,537
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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 chr 1:175,198,172...175,274,309
Ensembl chr 1:175,198,385...175,275,159
G
TOX4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,679,405...77,698,952
Ensembl chr 7:77,678,475...77,698,917
G
TPPP2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,106,126...78,108,570
Ensembl chr 7:78,105,215...78,110,405
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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 chr 1:169,710,948...169,722,782
Ensembl chr 1:169,709,558...169,722,735
G
TSSK4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,094,921...75,104,189
Ensembl chr 7:75,094,926...75,106,331
G
TTC6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:62,228,528...62,444,503
Ensembl chr 7:62,228,058...62,454,627
G
VCPKMT
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,899,642...179,907,439
Ensembl chr 1:179,899,646...179,906,967
G
ZFHX2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,554,876...75,586,782
Ensembl chr 7:75,552,618...75,586,132
G
ZNF219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,028,560...78,043,491
Ensembl chr 7:78,035,228...78,043,464
G
GPR88
G protein-coupled receptor 88
ISO
ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation | ClinVar Annotator: match by term: GPR88-related condition
OMIM ClinVar
PMID:25741868 PMID:27123486 PMID:28492532
NCBI chr 4:117,616,596...117,623,752
Ensembl chr 4:117,618,733...117,619,884
G
GNA14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Chorea-acanthocytosis
ClinVar
PMID:15918062
NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120
G
TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ISO
ClinVar Annotator: match by term: Chorea-acanthocytosis
ClinVar
PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 PMID:25525159 PMID:25741868 PMID:28492532 More...
NCBI chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498
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 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200
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ABAT
4-aminobutyrate aminotransferase
treatment
ISO
RGD
PMID:152600 PMID:6237280
RGD:10046047 RGD:10047058
NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474
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ACHE
acetylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:19124532
RGD:5686822
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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AGTR1
angiotensin II receptor type 1
ISO
protein:decreased expression:putamen:
RGD
PMID:8666063
RGD:10047397
NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
G
AIFM1
apoptosis inducing factor mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
G
APOA4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21297956
RGD:5147768
NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
G
ATF2
activating transcription factor 2
ISO
RGD
PMID:15878807
RGD:10047400
NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,985,126...81,081,014
G
ATF5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chr 6:54,945,067...54,950,142
Ensembl chr 6:54,945,119...54,950,137
G
ATRX
ATRX chromatin remodeler
ISO
RGD
PMID:22240898
RGD:11040584
NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
G
BAG1
BAG cochaperone 1
treatment
ISO
RGD
PMID:18400759
RGD:13506921
NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,337...33,242,230
G
BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:11299004 PMID:18938217
RGD:10054041 RGD:10054048
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147
G
BCHE
butyrylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr13:104,946,732...105,007,568
G
BCL2
BCL2 apoptosis regulator
ISO
RGD
PMID:11299004
RGD:10054041
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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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 chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
G
CASP3
caspase 3
treatment
ISO
RGD
PMID:10888929 PMID:15668790
RGD:10413886 RGD:13432082
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
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CASP8
caspase 8
ISO
protein:altered localization:cerebellum:
RGD
PMID:10197541
RGD:734695
NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
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CASP9
caspase 9
severity
ISO
protein:increased expression:striatum: protein:increased expression:caudate nucleus:
RGD
PMID:12095160
RGD:13432083
NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
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CAT
catalase
ISO
protein:decreased expression:brain
RGD
PMID:19445928
RGD:5130752
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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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 chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836
G
CEBPB
CCAAT enhancer binding protein beta
ISO
protein:increased expression:brain (mouse)
RGD
PMID:14749423
RGD:10401227
NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
G
CFP
complement factor properdin
ISO
RGD
PMID:20126313
RGD:7488914
NCBI chr X:42,157,980...42,174,964
Ensembl chr X:42,157,988...42,174,951
G
CHAT
choline O-acetyltransferase
ISO
mRNA:decreased expression:cerebral cortex
RGD
PMID:16987871
RGD:5686805
NCBI chr14:90,117,464...90,167,611
Ensembl chr14:90,117,464...90,167,611
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CIB1
calcium and integrin binding 1
ISO
mRNA:increased expression:head of caudate nucleus (mouse)
RGD
PMID:24324398
RGD:10401859
NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,836...55,798,590
G
CNR1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602
G
CNR2
cannabinoid receptor 2
ISO
RGD
PMID:19115380
RGD:2316196
NCBI chr 6:81,659,162...81,692,550
Ensembl chr 6:81,659,169...81,692,550
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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 chr 2:12,492,777...12,495,401
Ensembl chr 2:12,493,169...12,496,159
G
CREB1
cAMP responsive element binding protein 1
ISO
protein:decreased phosphorylation:neuron:
RGD
PMID:11967539 PMID:16420411
RGD:10059577 RGD:734817
NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728
G
CREBBP
CREB binding protein
treatment disease_progression
ISO
protein:altered localization:nucleus
RGD
PMID:11264541 PMID:19291221 PMID:20448484
RGD:10059583 RGD:13432093 RGD:13432094
NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
G
CTSH
cathepsin H
ISO
protein:increased expression:caudate nucleus
RGD
PMID:7561949
RGD:5686393
NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072
G
CYCS
cytochrome c, somatic
severity
ISO
protein:altered localization:cytosol
RGD
PMID:12095160
RGD:13432083
NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866
G
DIABLO
diablo IAP-binding mitochondrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070
G
DLG4
discs large MAGUK scaffold protein 4
ISO
protein:decreased expression:cerebral cortex, synapse protein:decreased expression:prefrontal cortex
RGD
PMID:24728190 PMID:25568121
RGD:13432154 RGD:13432155
NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143
G
DNAH6
dynein axonemal heavy chain 6
treatment
ISO
RGD
PMID:24282028
RGD:13432158
NCBI chr 3:59,859,858...60,114,274
Ensembl chr 3:59,859,863...60,114,365
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 chr16:49,189,555...49,193,722
Ensembl chr16:49,189,602...49,191,976
G
DRD2
dopamine receptor D2
ISO
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:12111832 PMID:16905556
RGD:5686414 RGD:7248682
NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
G
DRD3
dopamine receptor D3
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chr13:145,769,294...145,817,997
Ensembl chr13:145,771,774...145,819,168
G
DRD5
dopamine receptor D5
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chr 8:6,180,221...6,182,575
Ensembl chr 8:6,180,221...6,181,636
G
DUSP1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:23392662
RGD:7771544
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
G
E2F1
E2F transcription factor 1
ISO
protein:increased expression:brain
RGD
PMID:18768156
RGD:2316262
NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883
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EGFR
epidermal growth factor receptor
ISO
RGD
PMID:12890790
RGD:10047165
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
G
EGR1
early growth response 1
ISO
RGD
PMID:12191502
RGD:10395281
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
G
EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
ISO
RGD
PMID:11468270 PMID:15567511
RGD:10395345 RGD:10395348
NCBI chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,221...103,096,738
G
EP300
E1A binding protein p300
ISO
RGD
PMID:12586550
RGD:13432192
NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
G
F2
coagulation factor II, thrombin
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:21297956
RGD:5147768
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
G
FAAH
fatty acid amide hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chr 6:165,060,279...165,079,340
Ensembl chr 6:165,060,285...165,079,767
G
FAS
Fas cell surface death receptor
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
G
FASLG
Fas ligand
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
G
FOXP1
forkhead box P1
ISO
mRNA:decreased expression:striatum (mouse) mRNA:decreased expression:caudate nucleus (human)
RGD
PMID:16405510
RGD:11560524
NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26268247
RGD:13792684
NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
G
GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16943855
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
G
GIT1
GIT ArfGAP 1
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15383276
RGD:1549448
NCBI chr12:45,768,172...45,783,652
Ensembl chr12:45,768,176...45,783,658
G
GJA1
gap junction protein alpha 1
ISO
RGD
PMID:10873295
RGD:7207854
NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
G
GLUL
glutamate-ammonia ligase
ISO
RGD
PMID:3159462 PMID:6237280
RGD:10046047 RGD:13524508
NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,748,380...123,762,545
G
GPX1
glutathione peroxidase 1
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
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GPX6
glutathione peroxidase 6
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr 7:22,256,013...22,267,992
Ensembl chr 7:22,256,038...22,267,992
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GRIK2
glutamate ionotropic receptor kainate type subunit 2
onset
ISO
DNA:repeat: (human)
RGD
PMID:10522893
RGD:1358638
NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,538...68,679,256
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
onset
ISO
DNA:SNPs: :rs8057394, rs2650427 (human) DNA:SNPs: :rs1969060 (human)
RGD
PMID:15742215 PMID:17409241 PMID:17569088
RGD:13432195 RGD:13432554 RGD:13432556
NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
onset
ISO
DNA:SNP: :2664C>T (rs1806201) (human) DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
RGD
PMID:15742215 PMID:17409241 PMID:17569088
RGD:13432195 RGD:13432554 RGD:13432556
NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558
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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 chr 9:21,914,422...22,438,200
Ensembl chr 9:21,917,735...22,436,063
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GSR
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:11490092
RGD:10401927
NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984
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HAAO
3-hydroxyanthranilate 3,4-dioxygenase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021
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HAP1
huntingtin associated protein 1
no_association onset
ISO
DNA:SNP: :rs4523977 (human) DNA:SNP: :p.T441M (human) DNA:SNP:multiple
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 chr12:20,938,463...20,950,053
Ensembl chr12:20,939,554...20,950,051
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411
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HDAC3
histone deacetylase 3
ISO
mRNA:increased expression:cerebral cortex protein:increased expression:striatum:
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399
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HDAC7
histone deacetylase 7
ISO
protein:decreased expression:brain:
RGD
PMID:21118817
RGD:9681718
NCBI chr 5:78,150,554...78,186,051
Ensembl chr 5:78,150,561...78,186,072
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:17702587
RGD:5508462
NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957
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HNMT
histamine N-methyltransferase
ISO
RGD
PMID:21106039
RGD:5509774
NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199
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HPCA
hippocalcin
ISO
mRNA:decreased expression:brain (human)
RGD
PMID:19686238
RGD:9693681
NCBI chr 6:89,187,544...89,197,049
Ensembl chr 6:89,188,133...89,197,045
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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 4:463,531...486,483
Ensembl chr 4:463,393...486,473
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression
RGD
PMID:22171050
RGD:5688778
NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
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HTRA2
HtrA serine peptidase 2
ISO
protein:increased expression:striatal neuron (mouse)
RGD
PMID:18662332
RGD:5688723
NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886
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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 8:1,809,768...1,934,002
Ensembl chr 8:1,809,785...1,934,024
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IFT57
intraflagellar transport 57
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chr13:151,298,552...151,356,715
Ensembl chr13:151,298,554...151,357,155
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IFT88
intraflagellar transport 88
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613
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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 chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IGF1R
insulin like growth factor 1 receptor
ISO
RGD
PMID:25140802
RGD:10045870
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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IL6
interleukin 6
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL6R
interleukin 6 receptor
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
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IP6K2
inositol hexakisphosphate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652713
NCBI chr13:31,379,516...31,406,989
Ensembl chr13:31,379,521...31,406,911
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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 chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
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KDM5C
lysine demethylase 5C
ISO
mRNA:increased expression:caudate nucleus (human)
RGD
PMID:23872847
RGD:9587806
NCBI chr X:45,968,812...46,003,215
Ensembl chr X:45,968,814...46,003,215
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L1CAM
L1 cell adhesion molecule
ISO
RGD
PMID:17093074
RGD:6483035
NCBI chr X:124,595,649...124,618,292
Ensembl chr X:124,595,651...124,618,269
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LEP
leptin
ISO
protein:decreased expression:serum
RGD
PMID:19573560
RGD:5128676
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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MAOA
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chr X:38,930,452...39,006,220
G
MAOB
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chr X:39,025,973...39,144,389
Ensembl chr X:39,025,970...39,144,345
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MAP2
microtubule associated protein 2
ISO
RGD
PMID:20092829
RGD:6483090
NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
treatment onset
ISO
DNa:SNO:promoter:rs5880308(human) protein:increased expression:cortex,striatum,nucleus:
RGD
PMID:18327563 PMID:19646509
RGD:10412311 RGD:10412314
NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493
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MBP
myelin basic protein
ISO
protein:decreased expression:brain:
RGD
PMID:21906685
RGD:7349325
NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
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MIR132
microRNA mir-132
ISO
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr12:48,162,625...48,162,702
Ensembl chr12:48,162,614...48,162,714
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MIR222
microRNA mir-222
ISO
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr X:40,571,808...40,571,887
Ensembl chr X:40,571,808...40,571,887
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MIR29C
microRNA mir-29c
ISO
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr 9:135,019,638...135,019,725
Ensembl chr 9:135,019,638...135,019,725
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:striatum
RGD
PMID:21175737
RGD:13204827
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MSH2
mutS homolog 2
onset
ISO
RGD
PMID:12554681
RGD:10412317
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
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MT-CO2
mitochondrially encoded cytochrome c oxidase II
severity
ISO
RGD
PMID:20660112
RGD:13506651
NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890
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MT-ND3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
RGD
PMID:20480544
RGD:5687693
NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998
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MTNR1A
melatonin receptor 1A
treatment
ISO
mRNA:decreased expression:brain
RGD
PMID:21994366
RGD:9686058
NCBI chr17:8,597,047...8,618,746
Ensembl chr17:8,596,911...8,617,657
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NAPEPLD
N-acyl phosphatidylethanolamine phospholipase D
ISO
RGD
PMID:23659592
RGD:10412654
NCBI chr 9:103,210,655...103,309,018
Ensembl chr 9:103,210,748...103,262,910
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NCOR1
nuclear receptor corepressor 1
ISO
protein:decreased expression:temporal cortex, neuron, nucleus (human)
RGD
PMID:10441327
RGD:5688338
NCBI chr12:59,256,868...59,392,564
Ensembl chr12:59,273,100...59,392,562
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
mRNA:increased expression:striatum
RGD
PMID:24008671
RGD:10412688
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NFKB1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:11211235
RGD:10045663
NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691
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NGFR
nerve growth factor receptor
ISO
mRNA:increased expression:caudate nucleus
RGD
PMID:18093249
RGD:10058981
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
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NOG
noggin
treatment
ISO
RGD
PMID:17885687
RGD:10415531
NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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NPY
neuropeptide Y
no_association onset
ISO
DNA:SNP: :rs16147 (human) mRNA:decreased expression:hypothalamus DNA:SNP: :rs3037354 (human)
RGD
PMID:1710657 PMID:23697793 PMID:24121255
RGD:10431606 RGD:10433112 RGD:10433553
NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
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NPY2R
neuropeptide Y receptor Y2
onset
ISO
DNA:SNP: :rs2234759 (human)
RGD
PMID:24121255
RGD:10431606
NCBI chr 8:74,039,959...74,048,398
Ensembl chr 8:74,039,616...74,047,817
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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 chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19857538
NCBI chr13:66,038,669...66,045,478
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OPTN
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:22318854
RGD:6480499
NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
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PARP1
poly(ADP-ribose) polymerase 1
ISO
protein:increased expression:neuron,astrocyte:
RGD
PMID:15668790
RGD:10413886
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
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PCP4
Purkinje cell protein 4
ISO
protein:decreased expression:substantium
RGD
PMID:9697113
RGD:9850159
NCBI chr13:203,412,479...203,479,216
Ensembl chr13:203,412,479...203,479,209
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PDE9A
phosphodiesterase 9A
treatment
ISO
RGD
PMID:25315303
RGD:243048432
NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976
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PLCB3
phospholipase C beta 3
ISO
RGD
PMID:22917585
RGD:13432582
NCBI chr 2:7,844,931...7,860,183
Ensembl chr 2:7,843,340...7,860,193
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POLR2A
RNA polymerase II subunit A
ISO
RGD
PMID:20089533
RGD:10043799
NCBI chr12:52,779,833...52,806,210
Ensembl chr12:52,779,828...52,807,598
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PPARD
peroxisome proliferator activated receptor delta
ISO
OMIM:143100
MouseDO
NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,585...31,295,211
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PPARGC1A
PPARG coactivator 1 alpha
onset severity no_association treatment
ISO
DNA:snp:promoter:g.-1437T>C (rs2970870) (human) DNA:missense mutation:cds:pT612M (rs3736265) (human) protein:increased expression:brain (human) protein:increased expression:subthalamic nucleus (rat) mRNA:decreased expression:medium spiny neuron (mouse) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) mRNA:decreased expression:caudate nucleus (human) DNA:snps, haplotypes:multiple (human) DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (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 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PPP1R1B
protein phosphatase 1 regulatory inhibitor subunit 1B
ISO
RGD
PMID:18502785
RGD:13515080
NCBI chr12:22,681,244...22,690,978
Ensembl chr12:22,680,980...22,690,952
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PPP1R9A
protein phosphatase 1 regulatory subunit 9A
ISO
mRNA:decreased expression:striatum(mouse) mRNA:decreased expression:caudate nucleus
RGD
PMID:20089533
RGD:10043799
NCBI chr 9:74,635,285...74,944,050
Ensembl chr 9:74,635,403...74,940,362
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:19733666
RGD:6483320
NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105
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PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
protein:altered localization:nucleus protein:increased phosphorylation, altered localization:nucleus
RGD
PMID:21768291
RGD:6484534
NCBI chr16:25,745,902...25,783,524
Ensembl chr16:25,745,324...25,783,707
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:19464273
RGD:10412729
NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
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PSMB9
proteasome 20S subunit beta 9
ISO
RGD
PMID:14684867
RGD:6483364
NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,072,323...25,078,322
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21362433
RGD:5508227
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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QPRT
quinolinate phosphoribosyltransferase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chr 3:17,987,223...18,001,712
Ensembl chr 3:17,987,242...18,001,711
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RCAN1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270310
NCBI chr13:198,106,256...198,205,727
Ensembl chr13:198,102,098...198,205,629
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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 4:98,259,801...98,293,238
Ensembl chr 4:98,260,375...98,293,097
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SIN3A
SIN3 transcription regulator family member A
ISO
protein:altered localization:cytoplasm
RGD
PMID:10441327
RGD:5688338
NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971
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SIRT1
sirtuin 1
ISO
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) protein:decreased expression:frontal cortex
RGD
PMID:9949199 PMID:18538940 PMID:22179316
RGD:10395240 RGD:9585998 RGD:9586004
NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
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SLC18A3
solute carrier family 18 member A3
ISO
mRNA, protein:decreased expression:brain, spinal cord mRNA, protein:decreased expression:striatum
RGD
PMID:16987871
RGD:5686805
NCBI chr14:90,113,534...90,115,813
Ensembl chr14:90,113,844...90,115,430
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SLC1A2
solute carrier family 1 member 2
ISO
RGD
PMID:9100675 PMID:17409241
RGD:13432194 RGD:13432195
NCBI chr 2:25,603,892...25,771,840
Ensembl chr 2:25,604,950...25,848,276
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SLC29A1
solute carrier family 29 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27567601
NCBI chr 7:39,217,974...39,234,683
Ensembl chr 7:39,218,051...39,234,685
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SOD2
superoxide dismutase 2
susceptibility
ISO
RGD
PMID:11161607
RGD:13464352
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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SRSF6
serine and arginine rich splicing factor 6
ISO
protein:increased expression:striatum (human)
RGD
PMID:25038828
RGD:11039484
NCBI chr17:46,119,612...46,122,540
Ensembl chr17:46,119,409...46,125,126
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SYNE3
spectrin repeat containing nuclear envelope family member 3
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chr 7:116,666,238...116,770,305
Ensembl chr 7:116,665,435...116,770,302
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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 1:5,669...23,675
G
TFAM
transcription factor A, mitochondrial
ISO
mRNA:decreased expression:striatum
RGD
PMID:20529956 PMID:21595933
RGD:6770890 RGD:6771173
NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
G
TIMP2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:12614934
RGD:1580169
NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834
G
TRIP10
thyroid hormone receptor interactor 10
ISO
protein:increased expression:striatum
RGD
PMID:12604778
RGD:11535137
NCBI chr 2:72,406,500...72,416,146
Ensembl chr 2:72,406,505...72,416,138
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TUG1
taurine up-regulated 1
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chr14:47,799,778...47,809,893
G
UCP1
uncoupling protein 1
treatment
ISO
mRNA, protein:decreased expression:brown adipose tissue (mouse)
RGD
PMID:17055784 PMID:20561979
RGD:10045649 RGD:10045650
NCBI chr 8:86,522,028...86,526,162
G
UCP2
uncoupling protein 2
ISO
mRNA:decreased expression:peripheral blood (human)
RGD
PMID:23029535
RGD:10045655
NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547
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XPO5
exportin 5
ISO
mRNA:increased expression:striatum (mouse)
RGD
PMID:21035445
RGD:11041745
NCBI chr 7:38,530,704...38,569,558
Ensembl chr 7:38,531,919...38,569,582
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ZDHHC13
zinc finger DHHC-type palmitoyltransferase 13
ISO
OMIM:143100
MouseDO
NCBI chr 2:40,251,511...40,310,455
Ensembl chr 2:40,251,246...40,310,455
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ZDHHC17
zinc finger DHHC-type palmitoyltransferase 17
ISO
OMIM:143100
MouseDO
NCBI chr 5:104,300,869...104,394,255
Ensembl chr 5:104,300,876...104,394,260
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ADAM33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,023,102...32,038,464
Ensembl chr17:32,023,091...32,037,880
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ADISSP
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,943,018...31,956,754
Ensembl chr17:31,950,169...31,956,750
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ADRA1D
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,517,021...31,537,361
Ensembl chr17:31,517,021...31,538,362
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AP5S1
adaptor related protein complex 5 subunit sigma 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,896,117...31,906,833
Ensembl chr17:31,894,391...31,902,166
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ATRN
attractin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,054,240...32,239,576
Ensembl chr17:32,054,249...32,239,519
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AVP
vasopressin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,234...32,583,185
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BMP2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195
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C17H20orf141
chromosome 17 C20orf141 homolog
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,839,309...32,840,114
Ensembl chr17:32,838,771...32,840,154
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CDC25B
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,910,824...31,929,418
Ensembl chr17:31,910,825...31,929,242
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CDS2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,151,810...14,220,841
Ensembl chr17:14,151,597...14,220,839
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CENPB
centromere protein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,929,846...31,932,539
Ensembl chr17:31,929,892...31,931,712
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CHGB
chromogranin B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,747,282...14,761,995
Ensembl chr17:14,746,997...14,761,995
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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 chr17:32,845,154...32,852,065
Ensembl chr17:32,845,232...32,852,062
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CRLS1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,860,319...14,892,436
Ensembl chr17:14,860,320...14,892,434
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DDRGK1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,479,981...32,491,401
Ensembl chr17:32,479,977...32,491,396
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DNAAF9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,284,747...32,437,843
Ensembl chr17:32,284,752...32,437,839
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EBF4
EBF family member 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,874,807...32,944,623
Ensembl chr17:32,876,089...32,944,678
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FASTKD5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,520,625...32,532,786
Ensembl chr17:32,520,654...32,533,813
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FERMT1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:15,080,585...15,137,947
Ensembl chr17:15,080,587...15,137,753
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GFRA4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,040,183...32,044,396
Ensembl chr17:32,040,863...32,047,762
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GNRH2
gonadotropin releasing hormone 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,631,428...32,635,257
Ensembl chr17:32,631,668...32,632,943
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GPCPD1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,420,656...14,476,223
Ensembl chr17:14,420,658...14,476,212
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HSPA12B
heat shock protein family A (Hsp70) member 12B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,954,481...31,980,267
Ensembl chr17:31,953,137...31,977,754
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IDH3B
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,955,061...32,960,110
Ensembl chr17:32,955,101...32,960,104
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ITPA
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
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LRRN4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,895,954...14,908,112
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LZTS3
leucine zipper tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,507,512...32,518,524
Ensembl chr17:32,508,706...32,518,522
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MAVS
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,850,646...31,869,273
Ensembl chr17:31,850,900...31,869,188
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MCM8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,790,398...14,837,420
Ensembl chr17:14,790,396...14,837,416
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MIR103-2
microRNA mir-103-2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,808,837...31,808,916
Ensembl chr17:31,808,836...31,808,920
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MRPS26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,629,281...32,631,434
Ensembl chr17:32,629,284...32,631,430
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NOP56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,960,099...32,965,396
Ensembl chr17:32,960,102...32,965,370
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OXT
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,605,586...32,606,449
Ensembl chr17:32,605,586...32,606,546
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PANK2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,797,604...31,844,301
Ensembl chr17:31,798,785...31,828,496
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PCED1A
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,825,984...32,831,045
Ensembl chr17:32,825,998...32,831,041
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PCNA
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744
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PDYN
prodynorphin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,532
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PRND
prion like protein doppel
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:13,729,715...13,735,485
Ensembl chr17:13,729,731...13,735,483
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PRNP
prion protein
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 chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124
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PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
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PTPRA
protein tyrosine phosphatase receptor type A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,638,494...32,797,110
Ensembl chr17:32,637,932...32,797,104
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RASSF2
Ras association domain family member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:13,773,289...13,822,729
Ensembl chr17:13,773,292...13,822,206
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RNF24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,705,355...31,799,490
Ensembl chr17:31,705,434...31,794,885
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SHLD1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,610,723...14,706,082
Ensembl chr17:14,610,817...14,707,872
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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 chr17:31,994,505...32,021,239
Ensembl chr17:31,994,632...32,021,239
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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 chr17:13,848,726...14,012,054
Ensembl chr17:13,848,728...14,011,700
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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 chr17:32,445,360...32,458,246
Ensembl chr17:32,446,831...32,458,245
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SMOX
spermine oxidase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,552,927...31,592,007
Ensembl chr17:31,548,636...31,591,975
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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 chr17:33,072,104...33,094,847
Ensembl chr17:33,080,407...33,094,602
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SPEF1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:31,934,856...31,938,463
Ensembl chr17:31,934,856...31,938,463
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STK35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:33,332,725...33,413,328
Ensembl chr17:33,367,349...33,412,281
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TGM3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:33,191,901...33,236,065
Ensembl chr17:33,191,914...33,235,952
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TGM6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:33,106,974...33,142,548
Ensembl chr17:33,107,568...33,156,324
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TMC2
transmembrane channel like 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,977,890...33,047,982
Ensembl chr17:32,977,723...33,048,181
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TMEM230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:14,125,728...14,136,443
Ensembl chr17:14,125,730...14,136,387
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TMEM239
transmembrane protein 239
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,838,160...32,839,089
Ensembl chr17:32,838,160...32,838,618
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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 chr17:14,777,683...14,790,318
Ensembl chr17:14,777,683...14,965,130
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UBOX5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,520,612...32,561,534
Ensembl chr17:32,546,712...32,561,533
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VPS16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr17:32,803,596...32,825,974
Ensembl chr17:32,803,412...32,825,933
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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 chr 6:1,677,132...1,767,010
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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:31,879,143...32,331,543
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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:27,028,223...29,650,728
Ensembl chr X:27,028,231...28,383,840
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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:33,711,993...33,724,596
Ensembl chr X:33,711,492...33,724,683
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GP91-PHOX
NADPH oxidase heavy chain subunit
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:33,654,656...33,678,346
Ensembl chr X:33,643,648...33,680,580
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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:33,426,731...33,543,506
Ensembl chr X:33,427,444...33,541,304
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LOC100522411
melanoma-associated antigen B16-like
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:31,592,308...31,597,919
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LOC100624836
protein FAM47E-like
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:33,004,811...33,006,091
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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:33,064,499...33,232,556
Ensembl chr X:33,091,149...33,232,556
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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:30,584,044...30,615,233
Ensembl chr X:30,584,046...30,615,232
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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:33,544,287...33,602,576
Ensembl chr X:33,544,731...33,602,574
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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 chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811
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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 chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570
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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 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200
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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:33,544,287...33,602,576
Ensembl chr X:33,544,731...33,602,574
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AAMP
angio associated migratory cell protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,339,765...120,345,451
Ensembl chr15:120,339,768...120,345,311
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ABCB6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331
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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 chr15:121,265,693...121,273,813
Ensembl chr15:121,265,740...121,273,814
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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 chr15:120,297,122...120,328,795
Ensembl chr15:120,297,025...120,328,542
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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 chr15:121,520,003...121,547,520
Ensembl chr15:121,522,550...121,547,497
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ATG9A
autophagy related 9A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,254,355...121,265,564
Ensembl chr15:121,254,355...121,265,569
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BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793
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CATIP
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,419,473...120,425,441
Ensembl chr15:120,419,473...120,425,439
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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 chr15:120,985,069...120,990,864
Ensembl chr15:120,985,257...120,986,354
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CFAP65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,026,365...121,067,224
Ensembl chr15:121,026,245...121,062,738
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CHPF
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,547,666...121,553,590
Ensembl chr15:121,544,230...121,553,288
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CNOT9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,590,354...120,622,203
Ensembl chr15:120,590,641...120,623,898
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CNPPD1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,207,139...121,212,888
Ensembl chr15:121,207,142...121,212,766
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CRYBA2
crystallin beta A2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,013,611...121,016,869
Ensembl chr15:121,013,626...121,020,454
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CTDSP1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,450,649...120,456,874
Ensembl chr15:120,450,760...120,456,871
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CXCR2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1
ClinVar
PMID:28492532
NCBI chr15:120,219,657...120,230,203
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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 chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192
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DES
desmin
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
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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 chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991
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DNPEP
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,391,746...121,404,138
Ensembl chr15:121,391,746...121,412,864
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FEV
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,005,279...121,008,748
Ensembl chr15:121,004,665...121,009,014
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GLB1L
galactosidase beta 1 like
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,271,844...121,285,091
Ensembl chr15:121,271,848...121,285,091
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GMPPA
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,507,560...121,515,299
Ensembl chr15:121,507,564...121,515,300
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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 chr15:120,336,196...120,339,506
Ensembl chr15:120,336,488...120,339,505
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IHH
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121
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NHEJ1
non-homologous end joining factor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,194,042
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OBSL1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,560,009...121,581,314
Ensembl chr15:121,560,008...121,581,188
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PLCD4
phospholipase C delta 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,660,549...120,695,731
Ensembl chr15:120,626,938...120,688,112
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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 chr15:120,345,541...120,411,648
Ensembl chr15:120,387,113...120,410,476
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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 chr15:120,859,486...120,866,308
Ensembl chr15:120,855,201...120,866,332
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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...
NCBI chr 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480
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PTPRN
protein tyrosine phosphatase receptor type N
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,329,284...121,349,228
Ensembl chr15:121,329,287...121,349,168
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RESP18
regulated endocrine specific protein 18
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,364,165...121,371,430
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RETREG2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,212,370...121,218,796
Ensembl chr15:121,212,881...121,218,812
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RNF25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,712,242...120,719,773
Ensembl chr15:120,712,246...120,719,773
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SLC11A1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SLC23A3
solute carrier family 23 member 3
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,105,800...121,203,990
Ensembl chr15:121,193,947...121,203,990
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SPEG
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,443,976...121,501,453
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STK16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,285,065...121,288,475
Ensembl chr15:121,284,920...121,288,473
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STK36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,719,635...120,747,832
Ensembl chr15:120,719,646...120,754,065
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TMBIM1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:16199547 PMID:28492532
NCBI chr15:120,348,740...120,365,055
Ensembl chr15:120,348,735...120,365,007
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TMEM198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,553,686...121,559,860
Ensembl chr15:121,553,694...121,559,869
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TTLL4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,748,537...120,791,825
Ensembl chr15:120,773,185...120,793,194
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TUBA4A
tubulin alpha 4a
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,290,149...121,294,048
Ensembl chr15:121,288,957...121,294,853
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USP37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,492,552...120,590,230
Ensembl chr15:120,493,739...120,590,216
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VIL1
villin 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,463,470...120,494,772
Ensembl chr15:120,463,566...120,492,580
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WNT10A
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430
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WNT6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,901,471...120,917,359
Ensembl chr15:120,901,376...120,917,486
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ZFAND2B
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:121,243,116...121,246,075
Ensembl chr15:121,243,116...121,246,068
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ZNF142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr15:120,688,836...120,707,743
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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 chr14:80,249,693...80,377,496
Ensembl chr14:80,249,697...80,377,064
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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 chr 5:65,556,837...65,565,880
Ensembl chr 5:65,561,962...65,565,116
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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 chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295
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