RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: choreatic disease
Accession: DOID:12859
browse the term
Definition: A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. (DO)
Synonyms: exact_synonym: BCH; BHC; Benign Hereditary Chorea; Chorea; Chorea Disorder; Chorea Syndrome; Chorea Syndromes; Choreas; Choreatic Disorder; Choreatic Disorders; Choreatic Syndrome; Choreatic Syndromes; Choreic Movement; Choreic Movements; Choreiform Movement; Choreiform Movements; Chronic Progressive Chorea; Chronic Progressive Choreas; Hereditary Chorea; Hereditary Choreas; Hereditary Progressive Chorea Without Dementia; Paroxysmal Dyskinesia; Paroxysmal Dyskinesias; Rheumatic Chorea; Rheumatic Choreas; Senile Chorea; Senile Choreas; St. Vitus Dance; St. Vitus's Dance; St. Vitus's Dances; St. Vituss Dance; Sydenham chorea; Sydenham choreas; Sydenham's chorea; Sydenhams chorea; benign hereditary choreas; chorea disorders
primary_id: MESH:D002819
alt_id: MIM:118700 ; OMIA:002084
xref: EFO:0004152 ; ORDO:1429
For additional species annotation, visit the
Alliance of Genome Resources .
GViewer not supported for the selected species.
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Cacna2d2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660671
NCBI chrNW_004624730:4,211,189...4,346,119
Ensembl chrNW_004624730:4,212,901...4,345,849
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Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868
NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711
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Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chrNW_004624737:17,069,676...17,201,481
Ensembl chrNW_004624737:17,078,683...17,201,536
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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 chrNW_004624758:2,365,246...2,392,699
Ensembl chrNW_004624758:2,365,096...2,387,735
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Glrx3
glutaredoxin 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chrNW_004624737:16,906,135...16,938,089
Ensembl chrNW_004624737:16,905,964...16,938,048
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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 chrNW_004624757:178,616...346,443
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Kif5a
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624802:10,375,132...10,409,575
Ensembl chrNW_004624802:10,375,774...10,409,566
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
associated with Rheumatic Fever;DNA:polymorphism (human)
RGD
PMID:17559688
RGD:5147792
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004624838:508,660...527,306
Ensembl chrNW_004624838:508,732...528,161
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889
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Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004624955:24,761...201,529
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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 chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517
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Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004624838:227,941...234,431
Ensembl chrNW_004624838:228,153...229,728
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Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004624838:129,725...147,572
Ensembl chrNW_004624838:133,476...149,636
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chrNW_004624902:2,354,109...2,502,478
Ensembl chrNW_004624902:2,354,856...2,502,527
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Pde2a
phosphodiesterase 2A
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868 PMID:32467598
NCBI chrNW_004624817:4,269,422...4,367,576
Ensembl chrNW_004624817:4,269,347...4,369,486
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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 chrNW_004624792:7,713,042...7,916,177
Ensembl chrNW_004624792:7,712,113...7,916,160
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Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004624838:68,999...129,463
Ensembl chrNW_004624838:75,767...128,843
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Vps13a
vacuolar protein sorting 13 homolog A
ISO
choreoacanthocytosis, OMIM:200150
RGD
PMID:11381253
RGD:1599747
NCBI chrNW_004624811:4,639,926...4,902,749
Ensembl chrNW_004624811:4,640,090...4,901,510
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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 chrNW_004624730:58,746,824...58,755,544
Ensembl chrNW_004624730:58,730,413...58,755,688
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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 chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596
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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 chrNW_004624832:7,580,402...7,619,122
Ensembl chrNW_004624832:7,580,823...7,605,443
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Nkx2-1
NK2 homeobox 1
ISO
DNA:splice-site mutation:intron:c.464-9C>A (human) DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)
RGD
PMID:11971878 PMID:18788921 PMID:22825795
RGD:11073166 RGD:12914772 RGD:12914773
NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517
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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 chrNW_004624825:9,088,907...9,101,474
Ensembl chrNW_004624825:9,088,957...9,102,419
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Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,444,435...9,483,867
Ensembl chrNW_004624820:9,444,467...9,483,975
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Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,170,258...8,186,214
Ensembl chrNW_004624820:8,169,816...8,189,168
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Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,551,664...9,562,773
Ensembl chrNW_004624820:9,552,287...9,563,472
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Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:3,992,769...4,393,055
Ensembl chrNW_004624838:3,999,663...4,393,055
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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 chrNW_004624820:9,011,251...9,019,487
Ensembl chrNW_004624820:9,011,345...9,019,487
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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 chrNW_004624820:1,214,991...1,265,051
Ensembl chrNW_004624820:1,214,662...1,265,243
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Arf6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,880,065...18,883,456
Ensembl chrNW_004624731:18,882,690...18,883,217
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Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:302,000...381,043
Ensembl chrNW_004624820:305,475...381,058
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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 chrNW_004624825:7,067,010...7,084,928
Ensembl chrNW_004624825:7,067,138...7,084,663
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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 chrNW_004624838:1,907,825...2,007,089
Ensembl chrNW_004624838:1,908,527...2,007,052
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Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:984,051...1,020,498
Ensembl chrNW_004624838:985,822...1,020,477
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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 chrNW_004624820:8,460,032...8,477,298
Ensembl chrNW_004624820:8,459,756...8,477,287
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Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,084,910...8,090,580
Ensembl chrNW_004624820:8,085,705...8,087,053
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Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,484,779...9,494,891
Ensembl chrNW_004624820:9,485,919...9,494,990
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Cebpe
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,423,725...9,425,338
Ensembl chrNW_004624820:9,423,725...9,425,338
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Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,032,658...2,036,893
Ensembl chrNW_004624838:2,031,895...2,037,728
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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 chrNW_004624825:7,411,629...7,475,111
Ensembl chrNW_004624825:7,411,629...7,474,526
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Chmp4a
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,281,081...8,284,969
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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 chrNW_004624820:8,196,608...8,199,346
Ensembl chrNW_004624820:8,196,653...8,199,367
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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 chrNW_004624813:7,635,356...7,637,300
Ensembl chrNW_004624813:7,635,808...7,637,169
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Cma1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851
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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 chrNW_004624820:9,185,467...9,188,333
Ensembl chrNW_004624820:9,185,305...9,188,477
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Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,367,582...1,381,630
Ensembl chrNW_004624820:1,366,384...1,381,099
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Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,451,588...8,458,871
Ensembl chrNW_004624820:8,448,469...8,458,884
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CUNH14orf119
chromosome unknown C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,441,533...9,445,056
Ensembl chrNW_004624820:9,441,541...9,444,255
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CUNH14orf93
chromosome unknown C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,524,566...9,548,650
Ensembl chrNW_004624820:9,524,499...9,548,765
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Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:9,062,984...9,081,939
Ensembl chrNW_004624825:9,045,163...9,082,634
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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 chrNW_004624820:8,407,597...8,415,301
Ensembl chrNW_004624820:8,407,596...8,415,295
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Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,204,627...8,213,512
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Dnaaf2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,069,162...19,077,501
Ensembl chrNW_004624731:19,069,203...19,077,505
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Dorip1
dopamine receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,595,490...23,605,374
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Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:859,554...870,951
Ensembl chrNW_004624820:859,511...868,653
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Eapp
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,159,869...2,180,879
Ensembl chrNW_004624838:2,160,036...2,180,597
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Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:4,474,966...4,475,352
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Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,200,383...9,206,387
Ensembl chrNW_004624820:9,200,287...9,207,263
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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 chrNW_004624838:2,819,719...2,848,094
Ensembl chrNW_004624838:2,819,631...2,847,827
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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 chrNW_004624820:8,393,997...8,397,353
Ensembl chrNW_004624820:8,394,408...8,397,353
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,342,313...23,391,877
Ensembl chrNW_004624731:23,340,460...23,392,040
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Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,791,774...8,812,870
Ensembl chrNW_004624813:8,791,774...8,812,916
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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 chrNW_004624820:8,402,347...8,407,399
Ensembl chrNW_004624820:8,402,347...8,403,663
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Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,395,680...23,409,336
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Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624955:234,289...239,541
Ensembl chrNW_004624955:231,506...239,508
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Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:3,542,767...3,547,180
Ensembl chrNW_004624820:3,543,687...3,545,147
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Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:24,149,780...24,152,409
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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 chrNW_004624820:1,717,602...1,775,175
Ensembl chrNW_004624820:1,715,455...1,774,525
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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 chrNW_004624813:8,577,291...8,593,625
Ensembl chrNW_004624813:8,577,158...8,593,625
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Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,312,253...8,319,585
Ensembl chrNW_004624820:8,312,386...8,319,799
G
Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:839,284...840,276
Ensembl chrNW_004624820:839,284...840,276
G
Haus4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,569,134...9,578,195
Ensembl chrNW_004624820:9,570,971...9,578,464
G
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:891,562...1,022,586
Ensembl chrNW_004624820:907,396...1,021,455
G
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,097,323...1,196,556
Ensembl chrNW_004624820:1,097,463...1,196,499
G
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,198,387...7,276,936
Ensembl chrNW_004624825:7,205,292...7,276,889
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Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,263,032...9,274,721
G
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,188,709...9,192,180
Ensembl chrNW_004624820:9,188,612...9,191,990
G
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,269,909...1,272,849
Ensembl chrNW_004624838:1,271,100...1,272,764
G
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,352,513...8,361,282
Ensembl chrNW_004624820:8,352,493...8,361,282
G
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,369,830...8,376,593
Ensembl chrNW_004624820:8,370,289...8,376,950
G
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,000,864...9,010,700
Ensembl chrNW_004624820:9,000,833...9,009,517
G
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,074,069...8,084,817
Ensembl chrNW_004624820:8,075,413...8,084,232
G
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,977,647...19,027,799
Ensembl chrNW_004624731:18,977,656...19,024,212
G
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,935,841...18,973,879
Ensembl chrNW_004624731:18,962,888...18,974,096
G
Klhl28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,543,088...23,586,648
Ensembl chrNW_004624731:23,557,154...23,586,673
G
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,554,472...18,592,944
Ensembl chrNW_004624731:18,554,457...18,597,796
G
LOC101697223
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,156,562...7,157,628
Ensembl chrNW_004624825:7,156,693...7,157,628
G
LOC101702050
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,587,875...7,588,816
Ensembl chrNW_004624825:7,587,875...7,588,816
G
LOC101702732
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,646,103...7,647,044
G
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:10,930,009...11,196,036
Ensembl chrNW_004624813:11,049,888...11,196,095
G
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,645,954...9,652,296
Ensembl chrNW_004624820:9,645,954...9,652,289
G
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,091,909...19,101,691
Ensembl chrNW_004624731:19,090,334...19,101,254
G
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,187,496...8,196,381
Ensembl chrNW_004624820:8,187,496...8,189,562
G
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,192,441...8,196,472
Ensembl chrNW_004624820:8,192,441...8,196,375
G
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:508,660...527,306
Ensembl chrNW_004624838:508,732...528,161
G
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:20,951,651...21,760,267
Ensembl chrNW_004624731:20,951,954...21,754,936
G
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:6,986,277...6,993,324
Ensembl chrNW_004624825:6,986,318...6,995,369
G
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,513,481...7,527,716
Ensembl chrNW_004624825:7,513,481...7,527,695
G
Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,080,986...19,082,887
Ensembl chrNW_004624731:19,081,110...19,082,453
G
Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,650,615...8,776,264
G
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624955:24,761...201,529
G
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,288,240...23,339,568
Ensembl chrNW_004624731:23,290,631...23,339,687
G
Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,667,371...9,677,488
Ensembl chrNW_004624820:9,667,262...9,677,774
G
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,679,172...9,683,445
Ensembl chrNW_004624820:9,679,541...9,683,106
G
Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,008,475...7,017,422
Ensembl chrNW_004624825:7,008,475...7,017,676
G
Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,319,763...8,329,748
Ensembl chrNW_004624820:8,319,832...8,329,748
G
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,917,097...18,963,490
Ensembl chrNW_004624731:18,917,191...18,961,764
G
Nfatc4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,136,231...8,145,395
Ensembl chrNW_004624820:8,136,156...8,146,312
G
Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
G
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,092,270...9,102,189
Ensembl chrNW_004624820:9,092,139...9,102,192
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 chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517
G
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:227,941...234,431
Ensembl chrNW_004624838:228,153...229,728
G
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,199,350...8,204,619
Ensembl chrNW_004624820:8,199,110...8,204,612
G
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:5,821,232...5,973,709
Ensembl chrNW_004624820:5,821,477...5,971,637
G
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:3,003,455...3,904,964
Ensembl chrNW_004624838:3,006,512...3,904,799
G
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,436,469...8,449,354
Ensembl chrNW_004624820:8,444,687...8,449,354
G
Nubpl
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:562,180...767,434
Ensembl chrNW_004624820:567,217...791,817
G
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,093,119...8,114,465
Ensembl chrNW_004624820:8,094,908...8,118,679
G
Oxa1l
OXA1L mitochondrial inner membrane insertase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,757,615...9,763,686
Ensembl chrNW_004624820:9,757,840...9,763,640
G
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:129,725...147,572
Ensembl chrNW_004624838:133,476...149,636
G
Pck2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,426,456...8,436,484
Ensembl chrNW_004624820:8,426,606...8,436,284
G
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,620,089...8,627,964
Ensembl chrNW_004624813:8,620,174...8,626,886
G
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,027,668...19,063,268
Ensembl chrNW_004624731:19,027,721...19,063,113
G
Ppp1r3e
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,246,477...9,255,803
Ensembl chrNW_004624820:9,248,989...9,252,604
G
Ppp2r3c
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,627,632...1,655,079
Ensembl chrNW_004624838:1,627,873...1,657,475
G
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:2,408,562...2,726,199
Ensembl chrNW_004624820:2,408,360...2,726,606
G
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703
G
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,409,610...23,450,286
Ensembl chrNW_004624731:23,409,610...23,450,772
G
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,449,362...1,474,597
Ensembl chrNW_004624838:1,449,266...1,486,382
G
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,498,320...9,499,222
Ensembl chrNW_004624820:9,498,320...9,499,222
G
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,506,119...9,513,034
Ensembl chrNW_004624820:9,505,725...9,513,034
G
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,397,344...8,400,273
Ensembl chrNW_004624820:8,397,344...8,400,285
G
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,389,348...8,393,498
Ensembl chrNW_004624820:8,389,286...8,393,498
G
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,477,729...7,493,669
Ensembl chrNW_004624825:7,478,151...7,493,649
G
Rabggta
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,230,560...8,236,843
Ensembl chrNW_004624820:8,230,893...8,236,843
G
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151
G
Rbm23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,610,274...9,624,523
G
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,361,345...8,369,356
Ensembl chrNW_004624820:8,361,400...8,368,347
G
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,635,971...9,640,321
Ensembl chrNW_004624820:9,635,552...9,640,482
G
Ripk3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,165,546...8,169,172
G
Rnase13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,024,168...7,026,096
Ensembl chrNW_004624825:7,025,342...7,025,803
G
Rnase6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:4,468,213...4,469,557
Ensembl chrNW_004624825:4,468,213...4,469,566
G
Rnase7
ribonuclease A family member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,034,523...7,036,967
Ensembl chrNW_004624825:7,036,229...7,036,702
G
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,268,727...9,322,963
G
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,376,530...8,388,596
Ensembl chrNW_004624820:8,375,871...8,388,569
G
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,289,385...7,366,388
Ensembl chrNW_004624825:7,296,662...7,366,196
G
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:21,941,646...21,944,165
Ensembl chrNW_004624731:21,941,818...21,942,462
G
Rpl36al
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,082,925...19,084,464
Ensembl chrNW_004624731:19,027,587...19,085,171
G
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,107,593...19,109,651
G
Sall2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,536,350...7,551,168
Ensembl chrNW_004624825:7,535,781...7,551,255
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Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,614,884...1,714,020
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Sdr39u1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,072,477...8,075,664
Ensembl chrNW_004624820:8,072,577...8,075,673
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Sec23a
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,502,473...8,558,078
Ensembl chrNW_004624813:8,499,721...8,558,110
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Slc22a17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,210,015...9,216,620
Ensembl chrNW_004624820:9,209,864...9,220,087
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Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:68,999...129,463
Ensembl chrNW_004624838:75,767...128,843
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Slc39a2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:6,996,864...7,011,917
Ensembl chrNW_004624825:6,999,039...7,002,141
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Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,692,057...9,757,251
Ensembl chrNW_004624820:9,708,482...9,757,251
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Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,365,167...9,418,346
Ensembl chrNW_004624820:9,365,093...9,419,045
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Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,105,558...2,146,064
Ensembl chrNW_004624838:2,105,619...2,145,268
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Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,601,652...18,694,593
Ensembl chrNW_004624731:18,601,651...18,695,603
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Sptssa
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,207,003...2,231,838
Ensembl chrNW_004624838:2,206,917...2,231,518
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Srp54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,697,863...1,747,115
Ensembl chrNW_004624838:1,697,863...1,747,136
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Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:7,538,104...7,543,836
Ensembl chrNW_004624813:7,539,304...7,540,479
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Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,264,267...1,364,634
Ensembl chrNW_004624820:1,264,200...1,366,342
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Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:7,450,825...7,724,175
Ensembl chrNW_004624820:7,450,857...7,724,304
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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 chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,239,087...8,252,716
Ensembl chrNW_004624820:8,239,904...8,252,541
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Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,010,936...9,022,935
Ensembl chrNW_004624820:9,020,179...9,022,057
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,262,171...8,265,275
Ensembl chrNW_004624820:8,262,595...8,311,872
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Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,345,959...8,352,280
Ensembl chrNW_004624820:8,343,776...8,352,095
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Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,093,627...7,098,746
Ensembl chrNW_004624825:7,095,542...7,097,636
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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 chrNW_004624731:23,465,516...23,542,960
Ensembl chrNW_004624731:23,461,859...23,542,950
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Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,493,911...7,511,852
Ensembl chrNW_004624825:7,493,953...7,511,846
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Tppp2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,021,146...7,023,129
Ensembl chrNW_004624825:7,021,639...7,023,027
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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 chrNW_004624813:8,598,451...8,615,687
Ensembl chrNW_004624813:8,600,536...8,615,746
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Tssk4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,285,440...8,345,918
Ensembl chrNW_004624820:8,286,307...8,289,604
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Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624955:240,060...486,195
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Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,694,765...18,704,199
Ensembl chrNW_004624731:18,694,647...18,704,199
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Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,025,569...9,057,084
Ensembl chrNW_004624820:9,041,153...9,053,975
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Znf219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,084,757...7,098,942
Ensembl chrNW_004624825:7,084,757...7,090,725
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Gpr88
G protein-coupled receptor 88
ISO
ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation | ClinVar Annotator: match by term: GPR88-related condition
OMIM ClinVar
PMID:25741868 PMID:27123486 PMID:28492532
NCBI chrNW_004624857:3,435,286...3,440,746
Ensembl chrNW_004624857:3,435,952...3,440,055
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Chorea-acanthocytosis
ClinVar
PMID:15918062
NCBI chrNW_004624811:4,904,428...5,108,713
Ensembl chrNW_004624811:4,909,324...5,108,322
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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 chrNW_004624767:18,809,626...18,820,360
Ensembl chrNW_004624767:18,809,689...18,820,390
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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 chrNW_004624811:4,639,926...4,902,749
Ensembl chrNW_004624811:4,640,090...4,901,510
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Abat
4-aminobutyrate aminotransferase
treatment
ISO
RGD
PMID:152600 PMID:6237280
RGD:10046047 RGD:10047058
NCBI chrNW_004624824:6,112,644...6,202,936
Ensembl chrNW_004624824:6,141,213...6,202,936
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Ache
acetylcholinesterase (Cartwright blood group)
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chrNW_004624740:16,275,108...16,280,639
Ensembl chrNW_004624740:16,275,117...16,281,793
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:19124532
RGD:5686822
NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012
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Agtr1
angiotensin II receptor type 1
ISO
protein:decreased expression:putamen:
RGD
PMID:8666063
RGD:10047397
NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
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Aifm1
apoptosis inducing factor mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chrNW_004624797:9,346,620...9,384,531
Ensembl chrNW_004624797:9,345,726...9,384,645
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21297956
RGD:5147768
NCBI chrNW_004624784:12,237,329...12,240,013
Ensembl chrNW_004624784:12,233,593...12,239,763
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Atf2
activating transcription factor 2
ISO
RGD
PMID:15878807
RGD:10047400
NCBI chrNW_004624787:12,241,838...12,338,089
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Atf5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chrNW_004624832:4,400,586...4,405,203
Ensembl chrNW_004624832:4,396,604...4,405,185
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Bag1
BAG cochaperone 1
treatment
ISO
RGD
PMID:18400759
RGD:13506921
NCBI chrNW_004624736:38,015,150...38,025,079
Ensembl chrNW_004624736:38,015,044...38,025,079
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Bax
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:11299004 PMID:18938217
RGD:10054041 RGD:10054048
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
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Bche
butyrylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chrNW_004624730:43,793,550...43,849,169
Ensembl chrNW_004624730:43,793,040...43,843,519
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Bcl2
BCL2 apoptosis regulator
ISO
RGD
PMID:11299004
RGD:10054041
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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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 chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490
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Casp8
caspase 8
ISO
protein:altered localization:cerebellum:
RGD
PMID:10197541
RGD:734695
NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087
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Casp9
caspase 9
severity
ISO
protein:increased expression:caudate nucleus: protein:increased expression:striatum:
RGD
PMID:12095160
RGD:13432083
NCBI chrNW_004624764:1,769,270...1,789,399
Ensembl chrNW_004624764:1,773,455...1,789,423
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Cat
catalase
ISO
protein:decreased expression:brain
RGD
PMID:19445928
RGD:5130752
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
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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 chrNW_004624794:9,809,007...9,813,418
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Cebpb
CCAAT enhancer binding protein beta
ISO
protein:increased expression:brain (mouse)
RGD
PMID:14749423
RGD:10401227
NCBI chrNW_004624790:5,367,808...5,369,686
Ensembl chrNW_004624790:5,368,349...5,369,377
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Chat
choline O-acetyltransferase
ISO
mRNA:decreased expression:cerebral cortex
RGD
PMID:16987871
RGD:5686805
NCBI chrNW_004624928:357,812...401,668
Ensembl chrNW_004624928:360,704...399,714
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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 chrNW_004624768:17,209,639...17,212,996
Ensembl chrNW_004624768:17,209,639...17,213,114
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chrNW_004624799:6,100,709...6,126,530
Ensembl chrNW_004624799:6,101,728...6,126,520
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Cnr2
cannabinoid receptor 2
ISO
RGD
PMID:19115380
RGD:2316196
NCBI chrNW_004624764:8,388,375...8,422,961
Ensembl chrNW_004624764:8,389,444...8,390,538
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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 chrNW_004624864:1,785,215...1,788,608
Ensembl chrNW_004624864:1,782,139...1,792,879
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Creb1
cAMP responsive element binding protein 1
ISO
protein:decreased phosphorylation:neuron:
RGD
PMID:11967539 PMID:16420411
RGD:10059577 RGD:734817
NCBI chrNW_004624765:8,374,160...8,436,969
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Crebbp
CREB binding protein
disease_progression treatment
ISO
protein:altered localization:nucleus
RGD
PMID:11264541 PMID:19291221 PMID:20448484
RGD:10059583 RGD:13432093 RGD:13432094
NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
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Ctsh
cathepsin H
ISO
protein:increased expression:caudate nucleus
RGD
PMID:7561949
RGD:5686393
NCBI chrNW_004624941:82,209...98,156
Ensembl chrNW_004624941:82,209...98,182
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Diablo
diablo IAP-binding mitochondrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chrNW_004624747:22,441,533...22,457,056
Ensembl chrNW_004624747:22,441,541...22,457,075
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Dlg4
discs large MAGUK scaffold protein 4
ISO
protein:decreased expression:prefrontal cortex protein:decreased expression:cerebral cortex, synapse
RGD
PMID:24728190 PMID:25568121
RGD:13432154 RGD:13432155
NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100
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Dnah6
dynein axonemal heavy chain 6
treatment
ISO
RGD
PMID:24282028
RGD:13432158
NCBI chrNW_004624749:18,267,959...18,516,919
Ensembl chrNW_004624749:18,268,110...18,506,625
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Drd1
dopamine receptor D1
ISO
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:12111832 PMID:16905556 PMID:18815258
RGD:2302117 RGD:5686414 RGD:7248682
NCBI chrNW_004624733:14,517,540...14,522,173
Ensembl chrNW_004624733:14,518,146...14,520,905
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Drd2
dopamine receptor D2
ISO
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:12111832 PMID:16905556
RGD:5686414 RGD:7248682
NCBI chrNW_004624784:8,828,589...8,906,617
Ensembl chrNW_004624784:8,827,006...8,865,529
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Drd3
dopamine receptor D3
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chrNW_004624731:34,318,733...34,369,111
Ensembl chrNW_004624731:34,319,130...34,363,184
G
Drd5
dopamine receptor D5
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chrNW_004624755:21,358,586...21,361,410
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E2f1
E2F transcription factor 1
ISO
protein:increased expression:brain
RGD
PMID:18768156
RGD:2316262
NCBI chrNW_004624842:5,602,432...5,612,951
Ensembl chrNW_004624842:5,602,432...5,612,951
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Egfr
epidermal growth factor receptor
ISO
RGD
PMID:12890790
RGD:10047165
NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271
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Egr1
early growth response 1
ISO
RGD
PMID:12191502
RGD:10395281
NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205
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Eif2ak2
eukaryotic translation initiation factor 2 alpha kinase 2
ISO
RGD
PMID:11468270 PMID:15567511
RGD:10395345 RGD:10395348
NCBI chrNW_004624738:18,716,623...18,764,243
Ensembl chrNW_004624738:18,717,092...18,758,457
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Elk1
ETS transcription factor ELK1
ISO
RGD
PMID:20126313
RGD:7488914
NCBI chrNW_004624978:194,985...208,105
Ensembl chrNW_004624978:194,992...208,103
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:21297956
RGD:5147768
NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958
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Faah
fatty acid amide hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chrNW_004624906:2,288,251...2,313,172
Ensembl chrNW_004624906:2,287,985...2,313,172
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Fas
Fas cell surface death receptor
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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Faslg
Fas ligand
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
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Foxp1
forkhead box P1
ISO
mRNA:decreased expression:caudate nucleus (human) mRNA:decreased expression:striatum (mouse)
RGD
PMID:16405510
RGD:11560524
NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26268247
RGD:13792684
NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735
G
Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16943855
NCBI chrNW_004624759:17,263,570...17,290,046
Ensembl chrNW_004624759:17,263,969...17,287,723
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Git1
GIT ArfGAP 1
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15383276
RGD:1549448
NCBI chrNW_004624786:2,071,376...2,086,929
Ensembl chrNW_004624786:2,071,382...2,086,910
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Gja1
gap junction protein alpha 1
ISO
RGD
PMID:10873295
RGD:7207854
NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313
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Glul
glutamate-ammonia ligase
ISO
RGD
PMID:3159462 PMID:6237280
RGD:10046047 RGD:13524508
NCBI chrNW_004624771:2,608,779...2,618,130
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626
G
Grik2
glutamate ionotropic receptor kainate type subunit 2
onset
ISO
DNA:repeat: (human)
RGD
PMID:10522893
RGD:1358638
NCBI chrNW_004624810:2,731,573...3,407,186
Ensembl chrNW_004624810:2,733,118...3,401,909
G
Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
onset
ISO
DNA:SNPs: :rs1969060 (human) DNA:SNPs: :rs8057394, rs2650427 (human)
RGD
PMID:15742215 PMID:17409241 PMID:17569088
RGD:13432195 RGD:13432554 RGD:13432556
NCBI chrNW_004624824:7,128,169...7,513,360
Ensembl chrNW_004624824:7,137,909...7,507,910
G
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 chrNW_004624752:24,008,520...24,480,834
Ensembl chrNW_004624752:24,135,487...24,459,288
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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 chrNW_004624845:1,064,866...1,631,722
Ensembl chrNW_004624845:1,079,564...1,627,880
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Gsr
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:11490092
RGD:10401927
NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535
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Haao
3-hydroxyanthranilate 3,4-dioxygenase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chrNW_004624738:24,409,531...24,421,384
Ensembl chrNW_004624738:24,407,551...24,421,561
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Hdac1
histone deacetylase 1
ISO
mRNA:increased expression:cerebral cortex protein:increased expression:striatum:
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025
G
Hdac3
histone deacetylase 3
ISO
mRNA:increased expression:cerebral cortex protein:increased expression:striatum:
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chrNW_004624774:845,970...864,080
Ensembl chrNW_004624774:845,358...863,809
G
Hdac7
histone deacetylase 7
ISO
protein:decreased expression:brain:
RGD
PMID:21118817
RGD:9681718
NCBI chrNW_004624816:4,441,543...4,476,520
Ensembl chrNW_004624816:4,441,849...4,475,437
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:17702587
RGD:5508462
NCBI chrNW_004624951:681,559...711,476
Ensembl chrNW_004624951:682,178...711,474
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Hnmt
histamine N-methyltransferase
ISO
RGD
PMID:21106039
RGD:5509774
NCBI chrNW_004624732:37,621,014...37,689,873
Ensembl chrNW_004624732:37,620,925...37,691,708
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Hpca
hippocalcin
ISO
mRNA:decreased expression:brain (human)
RGD
PMID:19686238
RGD:9693681
NCBI chrNW_004624764:15,990,910...15,999,617
Ensembl chrNW_004624764:15,990,729...15,999,615
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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 chrNW_004624735:12,536,818...12,562,643
Ensembl chrNW_004624735:12,537,128...12,562,644
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression
RGD
PMID:22171050
RGD:5688778
NCBI chrNW_004624880:2,070,410...2,075,069
Ensembl chrNW_004624880:2,070,523...2,079,421
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Htra2
HtrA serine peptidase 2
ISO
protein:increased expression:striatal neuron (mouse)
RGD
PMID:18662332
RGD:5688723
NCBI chrNW_004624749:28,980,375...28,983,719
Ensembl chrNW_004624749:28,980,362...28,983,869
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Htt
huntingtin
onset treatment
ISO
ClinVar Annotator: match by term: HTT-related condition | ClinVar Annotator: match by term: Huntington disease DNA:repeats:cds:CAG (human)
OMIM ClinVar RGD
PMID:8242074 PMID:17940007 PMID:25741868 PMID:26740508 PMID:28492532
RGD:10403026 RGD:10403029
NCBI chrNW_004624755:24,602,955...24,729,584
Ensembl chrNW_004624755:24,603,490...24,729,333
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Ift57
intraflagellar transport 57
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chrNW_004624731:41,321,574...41,390,133
Ensembl chrNW_004624731:41,322,033...41,388,570
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Ift88
intraflagellar transport 88
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
G
Igf1
insulin like growth factor 1
treatment
ISO
human protein in a rat model
RGD
PMID:15371744 PMID:23384443 PMID:25140802
RGD:10045865 RGD:10045870 RGD:12904970
NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
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Igf1r
insulin like growth factor 1 receptor
ISO
RGD
PMID:25140802
RGD:10045870
NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809
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Il6
interleukin 6
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
Il6r
interleukin 6 receptor
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886
G
Ip6k2
inositol hexakisphosphate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652713
NCBI chrNW_004624730:2,697,098...2,734,198
Ensembl chrNW_004624730:2,697,098...2,734,636
G
Itpr1
inositol 1,4,5-trisphosphate receptor type 1
ISO
protein:decreased expression:neostriatum (rat) protein:decreased activity:cerebellum, striatum (mouse)
RGD
PMID:9761455 PMID:19193873 PMID:21145001
RGD:6480685 RGD:6480875 RGD:6483009
NCBI chrNW_004624773:14,856,803...15,193,173
Ensembl chrNW_004624773:14,856,804...15,193,168
G
Kdm5c
lysine demethylase 5C
ISO
mRNA:increased expression:caudate nucleus (human)
RGD
PMID:23872847
RGD:9587806
NCBI chrNW_004624909:421,033...455,201
Ensembl chrNW_004624909:420,077...455,309
G
L1cam
L1 cell adhesion molecule
ISO
RGD
PMID:17093074
RGD:6483035
NCBI chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009
G
Lep
leptin
ISO
protein:decreased expression:serum
RGD
PMID:19573560
RGD:5128676
NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727
G
LOC101718508
cytochrome c, somatic
severity
ISO
protein:altered localization:cytosol
RGD
PMID:12095160
RGD:13432083
NCBI chrNW_004624739:5,411,192...5,413,995
Ensembl chrNW_004624739:5,411,273...5,413,995
G
Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chrNW_004624762:11,743,833...11,820,529
Ensembl chrNW_004624762:11,743,712...11,822,377
G
Maob
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chrNW_004624762:11,584,925...11,720,273
Ensembl chrNW_004624762:11,584,825...11,720,506
G
Map2
microtubule associated protein 2
ISO
RGD
PMID:20092829
RGD:6483090
NCBI chrNW_004624765:6,476,544...6,758,959
Ensembl chrNW_004624765:6,476,346...6,546,116
G
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 chrNW_004624886:970,415...1,189,595
Ensembl chrNW_004624886:969,623...1,190,709
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Mbp
myelin basic protein
ISO
protein:decreased expression:brain:
RGD
PMID:21906685
RGD:7349325
NCBI chrNW_004624806:3,465,881...3,587,428
Ensembl chrNW_004624806:3,489,681...3,588,335
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:striatum
RGD
PMID:21175737
RGD:13204827
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
G
Msh2
mutS homolog 2
onset
ISO
RGD
PMID:12554681
RGD:10412317
NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
G
Mtnr1a
melatonin receptor 1A
treatment
ISO
mRNA:decreased expression:brain
RGD
PMID:21994366
RGD:9686058
NCBI chrNW_004624769:17,320,100...17,355,164
Ensembl chrNW_004624769:17,320,107...17,355,099
G
Napepld
N-acyl phosphatidylethanolamine phospholipase D
ISO
RGD
PMID:23659592
RGD:10412654
NCBI chrNW_004624739:26,117,665...26,152,322
G
Ncor1
nuclear receptor corepressor 1
ISO
protein:decreased expression:temporal cortex, neuron, nucleus (human)
RGD
PMID:10441327
RGD:5688338
NCBI chrNW_004624877:4,203,125...4,379,891
Ensembl chrNW_004624877:4,233,282...4,377,211
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
mRNA:increased expression:striatum
RGD
PMID:24008671
RGD:10412688
NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251
G
Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:11211235
RGD:10045663
NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723
G
Ngfr
nerve growth factor receptor
ISO
mRNA:increased expression:caudate nucleus
RGD
PMID:18093249
RGD:10058981
NCBI chrNW_004624795:5,623,686...5,639,545
Ensembl chrNW_004624795:5,623,700...5,639,655
G
Nog
noggin
treatment
ISO
RGD
PMID:17885687
RGD:10415531
NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051
G
Npy
neuropeptide Y
onset no_association
ISO
mRNA:decreased expression:hypothalamus DNA:SNP: :rs3037354 (human) DNA:SNP: :rs16147 (human)
RGD
PMID:1710657 PMID:23697793 PMID:24121255
RGD:10431606 RGD:10433112 RGD:10433553
NCBI chrNW_004624739:6,277,704...6,285,454
Ensembl chrNW_004624739:6,277,612...6,285,397
G
Npy2r
neuropeptide Y receptor Y2
onset
ISO
DNA:SNP: :rs2234759 (human)
RGD
PMID:24121255
RGD:10431606
NCBI chrNW_004624848:3,049,009...3,054,548
Ensembl chrNW_004624848:3,048,413...3,054,495
G
Nrf1
nuclear respiratory factor 1
onset
ISO
DNA:SNPs: :rs6949152, rs7781972 (human) mRNA:decreased expression:striatum
RGD
PMID:20529956 PMID:21595933
RGD:6770890 RGD:6771173
NCBI chrNW_004624783:6,488,653...6,654,304
Ensembl chrNW_004624783:6,488,380...6,602,250
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19857538
NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196
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Optn
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:22318854
RGD:6480499
NCBI chrNW_004624805:5,683,095...5,717,558
Ensembl chrNW_004624805:5,683,021...5,721,336
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Parp1
poly(ADP-ribose) polymerase 1
ISO
protein:increased expression:neuron,astrocyte:
RGD
PMID:15668790
RGD:10413886
NCBI chrNW_004624807:446,662...478,571
Ensembl chrNW_004624807:446,647...479,069
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Pcp4
Purkinje cell protein 4
ISO
protein:decreased expression:substantium
RGD
PMID:9697113
RGD:9850159
NCBI chrNW_004624745:29,630,990...29,682,965
Ensembl chrNW_004624745:29,630,747...29,682,995
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Pde9a
phosphodiesterase 9A
treatment
ISO
RGD
PMID:25315303
RGD:243048432
NCBI chrNW_004624745:27,834,814...27,919,264
Ensembl chrNW_004624745:27,839,682...27,919,299
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Plcb3
phospholipase C beta 3
ISO
RGD
PMID:22917585
RGD:13432582
NCBI chrNW_004624767:22,038,058...22,055,715
Ensembl chrNW_004624767:22,039,870...22,055,579
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Polr2a
RNA polymerase II subunit A
ISO
RGD
PMID:20089533
RGD:10043799
NCBI chrNW_004624786:10,098,133...10,122,783
Ensembl chrNW_004624786:10,097,294...10,122,893
G
Ppard
peroxisome proliferator activated receptor delta
ISO
OMIM:143100
MouseDO
NCBI chrNW_004624754:22,021,465...22,084,320
G
Ppargc1a
PPARG coactivator 1 alpha
treatment onset severity no_association
ISO
mRNA:decreased expression:caudate nucleus (human) mRNA:decreased expression:medium spiny neuron (mouse) protein:increased expression:subthalamic nucleus (rat) DNA:snp:promoter:g.-1437T>C (rs2970870) (human) DNA:snps, haplotypes:multiple (human) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) DNA:missense mutation:cds:pT612M (rs3736265) (human) DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) protein:increased expression:brain (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 chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297
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Ppp1r1b
protein phosphatase 1 regulatory inhibitor subunit 1B
ISO
RGD
PMID:18502785
RGD:13515080
NCBI chrNW_004624795:3,432,179...3,439,490
Ensembl chrNW_004624795:3,431,689...3,439,545
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Ppp1r9a
protein phosphatase 1 regulatory subunit 9A
ISO
mRNA:decreased expression:caudate nucleus mRNA:decreased expression:striatum(mouse)
RGD
PMID:20089533
RGD:10043799
NCBI chrNW_004624813:1,587,567...1,951,620
Ensembl chrNW_004624813:1,588,261...1,945,788
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Ppp3ca
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:19733666
RGD:6483320
NCBI chrNW_004624830:6,318,352...6,584,232
Ensembl chrNW_004624830:6,317,968...6,581,892
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
protein:increased phosphorylation, altered localization:nucleus protein:altered localization:nucleus
RGD
PMID:21768291
RGD:6484534
NCBI chrNW_004624759:14,143,439...14,174,971
Ensembl chrNW_004624759:14,142,956...14,171,718
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:19464273
RGD:10412729
NCBI chrNW_004624855:430,148...1,992,121
Ensembl chrNW_004624855:430,260...1,989,747
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:14684867
RGD:6483364
NCBI chrNW_004624754:23,811,008...23,815,432
Ensembl chrNW_004624754:23,807,272...23,815,417
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21362433
RGD:5508227
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Rcan1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270310
NCBI chrNW_004624745:22,683,600...22,764,735
Ensembl chrNW_004624745:22,683,016...22,764,720
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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 chrNW_004624772:18,855,405...18,894,285
Ensembl chrNW_004624772:18,855,332...18,894,226
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Sin3a
SIN3 transcription regulator family member A
ISO
protein:altered localization:cytoplasm
RGD
PMID:10441327
RGD:5688338
NCBI chrNW_004624894:300,027...388,397
Ensembl chrNW_004624894:301,082...362,683
G
Sirt1
sirtuin 1
ISO
protein:decreased expression:frontal cortex human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
RGD
PMID:9949199 PMID:18538940 PMID:22179316
RGD:10395240 RGD:9585998 RGD:9586004
NCBI chrNW_004624754:2,304,476...2,332,705
Ensembl chrNW_004624754:2,304,634...2,330,946
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Slc18a3
solute carrier family 18 member A3
ISO
mRNA, protein:decreased expression:striatum mRNA, protein:decreased expression:brain, spinal cord
RGD
PMID:16987871
RGD:5686805
NCBI chrNW_004624928:403,114...405,560
Ensembl chrNW_004624928:403,503...405,095
G
Slc1a2
solute carrier family 1 member 2
ISO
RGD
PMID:9100675 PMID:17409241
RGD:13432194 RGD:13432195
NCBI chrNW_004624767:11,768,942...11,919,315
Ensembl chrNW_004624767:11,768,951...11,911,017
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Slc29a1
solute carrier family 29 member 1 (Augustine blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27567601
NCBI chrNW_004624754:15,623,960...15,636,377
Ensembl chrNW_004624754:15,624,429...15,632,996
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Sod2
superoxide dismutase 2
susceptibility
ISO
RGD
PMID:11161607
RGD:13464352
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
G
Srsf6
serine and arginine rich splicing factor 6
ISO
protein:increased expression:striatum (human)
RGD
PMID:25038828
RGD:11039484
NCBI chrNW_004624790:10,812,013...10,817,414
Ensembl chrNW_004624790:10,812,013...10,817,833
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Syne3
spectrin repeat containing nuclear envelope family member 3
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chrNW_004624734:7,894,894...7,970,430
Ensembl chrNW_004624734:7,897,223...7,936,725
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Tbp
TATA-box binding protein
severity
ISO
protein:increased expression:middle frontal gyrus (human)
RGD
PMID:12531510
RGD:5684339
NCBI chrNW_004624850:6,359,382...6,375,391
Ensembl chrNW_004624850:6,359,418...6,375,391
G
Tfam
transcription factor A, mitochondrial
ISO
mRNA:decreased expression:striatum
RGD
PMID:20529956 PMID:21595933
RGD:6770890 RGD:6771173
NCBI chrNW_004624791:5,183,276...5,198,986
Ensembl chrNW_004624791:5,179,195...5,198,611
G
Timp2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:12614934
RGD:1580169
NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982
G
Trip10
thyroid hormone receptor interactor 10
ISO
protein:increased expression:striatum
RGD
PMID:12604778
RGD:11535137
NCBI chrNW_004624828:3,814,101...3,824,279
Ensembl chrNW_004624828:3,814,153...3,824,278
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Ucp1
uncoupling protein 1
treatment
ISO
mRNA, protein:decreased expression:brown adipose tissue (mouse)
RGD
PMID:17055784 PMID:20561979
RGD:10045649 RGD:10045650
NCBI chrNW_004625006:155,179...162,544
Ensembl chrNW_004625006:155,100...162,551
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Ucp2
uncoupling protein 2
ISO
mRNA:decreased expression:peripheral blood (human)
RGD
PMID:23029535
RGD:10045655
NCBI chrNW_004624817:3,067,358...3,075,045
Ensembl chrNW_004624817:3,067,320...3,075,043
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Xpo5
exportin 5
ISO
mRNA:increased expression:striatum (mouse)
RGD
PMID:21035445
RGD:11041745
NCBI chrNW_004624754:16,083,356...16,124,682
Ensembl chrNW_004624754:16,083,407...16,123,407
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Zdhhc13
zinc finger DHHC-type palmitoyltransferase 13
ISO
OMIM:143100
MouseDO
NCBI chrNW_004624766:10,556,715...10,608,070
Ensembl chrNW_004624766:10,556,645...10,608,083
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Zdhhc17
zinc finger DHHC-type palmitoyltransferase 17
ISO
OMIM:143100
MouseDO
NCBI chrNW_004624750:21,224,049...21,309,089
Ensembl chrNW_004624750:21,225,768...21,308,927
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Adam33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,764,508...4,778,174
Ensembl chrNW_004624741:4,766,306...4,775,501
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Adissp
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,838,261...4,852,217
Ensembl chrNW_004624741:4,838,261...4,852,233
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Adra1d
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:5,276,484...5,297,594
Ensembl chrNW_004624741:5,274,187...5,296,986
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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 chrNW_004624741:4,903,219...4,930,021
Ensembl chrNW_004624741:4,903,492...4,910,923
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Atrn
attractin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,559,149...4,745,840
Ensembl chrNW_004624741:4,559,121...4,745,996
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Avp
arginine vasopressin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,208,305...4,210,097
Ensembl chrNW_004624741:4,208,329...4,210,071
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484
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Cdc25b
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,871,275...4,892,730
Ensembl chrNW_004624741:4,882,516...4,892,925
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Cds2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,159,561...6,231,967
Ensembl chrNW_004624741:6,159,573...6,227,419
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Cenpb
centromere protein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,868,453...4,870,933
Ensembl chrNW_004624741:4,869,248...4,870,897
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Chgb
chromogranin B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,754,161...6,766,317
Ensembl chrNW_004624741:6,754,407...6,766,079
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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 chrNW_004624741:3,930,417...3,936,649
Ensembl chrNW_004624741:3,930,547...3,936,572
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Crls1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,828,274...6,852,461
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CUNH20orf141
chromosome unknown C20orf141 homolog
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,939,578...3,940,219
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Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,292,256...4,305,424
Ensembl chrNW_004624741:4,292,256...4,305,504
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Dnaaf9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,349,822...4,484,526
Ensembl chrNW_004624741:4,352,971...4,484,435
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Ebf4
EBF family member 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,834,175...3,892,347
Ensembl chrNW_004624741:3,834,151...3,892,353
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Fastkd5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,254,391...4,268,297
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Fermt1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,881,477...6,914,910
Ensembl chrNW_004624741:6,880,877...6,915,051
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Gfra4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,752,376...4,757,642
Ensembl chrNW_004624741:4,753,792...4,757,642
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Gnrh2p
gonadotropin releasing hormone 2 pseudogene
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,162,786...4,164,067
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Gpcpd1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,472,558...6,529,698
Ensembl chrNW_004624741:6,472,558...6,528,865
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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 chrNW_004624741:4,818,611...4,837,862
Ensembl chrNW_004624741:4,818,589...4,837,862
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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 chrNW_004624741:3,808,436...3,814,239
Ensembl chrNW_004624741:3,808,784...3,814,510
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Itpa
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,312,363...4,341,996
Ensembl chrNW_004624741:4,312,360...4,325,825
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Lrrn4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,855,911...6,865,972
Ensembl chrNW_004624741:6,857,658...6,864,825
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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 chrNW_004624741:4,271,584...4,282,082
Ensembl chrNW_004624741:4,268,869...4,281,653
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Mavs
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,936,556...4,951,081
Ensembl chrNW_004624741:4,939,040...4,954,058
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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 chrNW_004624741:6,787,555...6,826,033
Ensembl chrNW_004624741:6,787,578...6,827,188
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Mrps26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,164,156...4,166,303
Ensembl chrNW_004624741:4,164,440...4,165,963
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Nop56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,803,000...3,808,439
Ensembl chrNW_004624741:3,803,169...3,808,342
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,200,594...4,201,416
Ensembl chrNW_004624741:4,200,478...4,201,580
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,966,136...5,025,465
Ensembl chrNW_004624741:4,966,260...5,007,207
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Pced1a
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,939,625...3,960,760
Ensembl chrNW_004624741:3,954,382...3,960,322
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Pcna
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898
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Pdyn
prodynorphin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,239,101...3,253,507
Ensembl chrNW_004624741:3,237,942...3,253,503
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Prnd
prion like protein doppel
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:5,814,894...5,820,087
Ensembl chrNW_004624741:5,814,931...5,820,072
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Prnp
prion protein (Kanno blood group)
susceptibility
ISO
ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
ClinVar OMIM
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2458274 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7954833 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8880705 PMID:8909447 PMID:8939199 PMID:9266722 PMID:9270595 PMID:9279329 PMID:9384372 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10050890 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10612329 PMID:10631141 PMID:10665501 PMID:10790216 PMID:10889050 PMID:10953203 PMID:10970892 PMID:10987652 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11568919 PMID:11709001 PMID:11749972 PMID:11756421 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12690204 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15304595 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15558291 PMID:15739100 PMID:15753435 PMID:15776279 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16187142 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16314483 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16914329 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:17666888 PMID:17851697 PMID:18425766 PMID:18455951 PMID:18478114 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:20932979 PMID:21107135 PMID:21269331 PMID:21298055 PMID:21416485 PMID:21552571 PMID:21616973 PMID:21791975 PMID:21839748 PMID:21904617 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22488860 PMID:22561193 PMID:22584955 PMID:22717776 PMID:22788868 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23261545 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:23871665 PMID:24583440 PMID:24838726 PMID:24958194 PMID:25022973 PMID:25064618 PMID:25279981 PMID:25450391 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26000326 PMID:26268049 PMID:26323476 PMID:26488179 PMID:26578040 PMID:26713717 PMID:26740554 PMID:26757195 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27649893 PMID:27716661 PMID:27803826 PMID:28314738 PMID:28492532 PMID:29092967 PMID:29382530 PMID:29458424 PMID:29704165 PMID:29887139 PMID:29887141 PMID:31447551 PMID:32317127 PMID:32775516 PMID:32986314 PMID:32998248 PMID:33731477 PMID:34663460 PMID:35812092 More...
NCBI chrNW_004624741:5,785,139...5,802,162
Ensembl chrNW_004624741:5,785,158...5,802,162
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,270,098...6,281,147
Ensembl chrNW_004624741:6,270,002...6,281,182
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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 chrNW_004624741:3,997,853...4,155,130
Ensembl chrNW_004624741:4,075,101...4,155,130
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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 chrNW_004624741:5,851,260...5,894,972
Ensembl chrNW_004624741:5,857,607...5,894,969
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Rnf24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:5,015,475...5,073,652
Ensembl chrNW_004624741:5,012,368...5,048,688
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Shld1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,630,746...6,766,314
Ensembl chrNW_004624741:6,638,889...6,721,118
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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 chrNW_004624741:4,781,347...4,802,893
Ensembl chrNW_004624741:4,783,327...4,798,378
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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 chrNW_004624741:5,917,620...6,050,922
Ensembl chrNW_004624741:5,917,019...6,000,720
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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 chrNW_004624741:4,328,745...4,339,919
Ensembl chrNW_004624741:4,328,675...4,339,851
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Smox
spermine oxidase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:5,215,924...5,250,970
Ensembl chrNW_004624741:5,215,393...5,251,552
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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 chrNW_004624741:3,694,488...3,703,169
Ensembl chrNW_004624741:3,691,676...3,703,255
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Spef1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,861,992...4,868,261
Ensembl chrNW_004624741:4,862,872...4,866,783
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Stk35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,360,814...3,434,002
Ensembl chrNW_004624741:3,360,648...3,404,734
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Tgm3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,543,887...3,585,600
Ensembl chrNW_004624741:3,543,982...3,585,109
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Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,654,288...3,672,382
Ensembl chrNW_004624741:3,646,131...3,672,382
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Tmc2
transmembrane channel like 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,723,601...3,788,403
Ensembl chrNW_004624741:3,733,672...3,786,971
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Tmem230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:6,133,251...6,142,366
Ensembl chrNW_004624741:6,135,252...6,142,469
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Tmem239
transmembrane protein 239
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:3,939,686...3,941,414
Ensembl chrNW_004624741:3,940,745...3,941,551
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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 chrNW_004624741:6,774,767...6,787,461
Ensembl chrNW_004624741:6,775,944...6,788,161
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Ubox5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004624741:4,228,564...4,268,213
Ensembl chrNW_004624741:4,229,031...4,268,798
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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 chrNW_004624741:3,959,561...3,991,191
Ensembl chrNW_004624741:3,959,363...3,991,191
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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 chrNW_004624746:3,193,695...3,243,916
Ensembl chrNW_004624746:3,193,687...3,242,444
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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 chrNW_004624762:19,075,485...19,603,914
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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 chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938
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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 chrNW_004624762:17,734,738...17,747,418
Ensembl chrNW_004624762:17,734,769...17,747,527
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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 chrNW_004624762:17,916,148...18,033,799
Ensembl chrNW_004624762:17,925,158...18,033,734
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LOC101709509
cytochrome b-245 heavy chain
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chrNW_004624762:17,759,625...17,793,434
Ensembl chrNW_004624762:17,757,404...17,793,467
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Mageb16
MAGE family member B16
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chrNW_004624762:19,674,668...19,720,676
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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 chrNW_004624762:18,273,401...18,379,796
Ensembl chrNW_004624762:18,273,434...18,378,802
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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 chrNW_004624762:21,100,254...21,129,793
Ensembl chrNW_004624762:21,100,133...21,129,895
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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 chrNW_004624762:17,856,746...17,915,975
Ensembl chrNW_004624762:17,856,731...17,914,938
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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 chrNW_004624870:85,695...142,842
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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 chrNW_004624870:136,060...204,486
Ensembl chrNW_004624870:177,239...204,552
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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 chrNW_004624811:4,639,926...4,902,749
Ensembl chrNW_004624811:4,640,090...4,901,510
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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 chrNW_004624762:17,856,746...17,915,975
Ensembl chrNW_004624762:17,856,731...17,914,938
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Aamp
angio associated migratory cell protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,761,343...6,766,573
Ensembl chrNW_004624823:6,761,254...6,768,545
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Abcb6
ATP binding cassette subfamily B member 6 (LAN blood group)
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,797,897...5,805,055
Ensembl chrNW_004624823:5,797,943...5,808,448
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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 chrNW_004624823:5,780,287...5,787,543
Ensembl chrNW_004624823:5,780,484...5,787,007
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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 chrNW_004624823:6,774,855...6,804,219
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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 chrNW_004624823:5,523,166...5,544,982
Ensembl chrNW_004624823:5,523,185...5,544,956
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,787,525...5,797,536
Ensembl chrNW_004624823:5,787,601...5,797,534
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,640,438...6,646,705
Ensembl chrNW_004624823:6,640,326...6,646,680
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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 chrNW_004624823:6,053,469...6,054,748
Ensembl chrNW_004624823:6,053,550...6,054,659
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Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,977,592...6,015,786
Ensembl chrNW_004624823:5,977,554...6,015,868
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Chpf
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,518,382...5,522,997
Ensembl chrNW_004624823:5,518,410...5,525,312
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,449,165...6,484,593
Ensembl chrNW_004624823:6,450,656...6,484,578
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Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,845,147...5,851,831
Ensembl chrNW_004624823:5,845,135...5,851,740
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Cryba2
crystallin beta A2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,023,307...6,027,792
Ensembl chrNW_004624823:6,023,350...6,027,806
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,603,095...6,608,490
Ensembl chrNW_004624823:6,601,919...6,608,552
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,857,649...6,861,219
Ensembl chrNW_004624823:6,859,356...6,860,426
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Des
desmin
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283
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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 chrNW_004624823:5,730,553...5,737,668
Ensembl chrNW_004624823:5,730,386...5,738,459
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,658,301...5,667,010
Ensembl chrNW_004624823:5,658,379...5,667,010
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,032,188...6,036,211
Ensembl chrNW_004624823:6,032,352...6,036,211
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Glb1l
galactosidase beta 1 like
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,770,049...5,780,343
Ensembl chrNW_004624823:5,770,308...5,780,203
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Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,552,044...5,559,037
Ensembl chrNW_004624823:5,550,014...5,559,812
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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 chrNW_004624823:6,766,816...6,769,490
Ensembl chrNW_004624823:6,766,816...6,769,473
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,959,329...5,965,584
Ensembl chrNW_004624823:5,959,448...5,964,769
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LOC101700018
sterol 26-hydroxylase, mitochondrial
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,199,807...6,258,273
Ensembl chrNW_004624823:6,200,047...6,258,001
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LOC101703804
mitochondrial chaperone BCS1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,392,959...6,397,419
Ensembl chrNW_004624823:6,392,959...6,396,854
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Nhej1
non-homologous end joining factor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,859,157...5,944,573
Ensembl chrNW_004624823:5,864,003...5,946,583
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202
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Plcd4
phospholipase C delta 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,418,359...6,446,848
Ensembl chrNW_004624823:6,418,922...6,442,418
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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 chrNW_004624823:6,675,702...6,761,133
Ensembl chrNW_004624823:6,674,917...6,761,025
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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 chrNW_004624823:6,184,970...6,196,535
Ensembl chrNW_004624823:6,184,801...6,192,654
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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 chrNW_004624782:13,390,347...13,393,775
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Ptprn
protein tyrosine phosphatase receptor type N
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,710,669...5,734,739
Ensembl chrNW_004624823:5,710,622...5,729,093
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Resp18
regulated endocrine specific protein 18
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,688,508...5,693,522
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,839,760...5,845,053
Ensembl chrNW_004624823:5,839,760...5,844,967
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,383,727...6,392,332
Ensembl chrNW_004624823:6,383,813...6,392,332
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Slc23a3
solute carrier family 23 member 3
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,852,164...5,858,938
Ensembl chrNW_004624823:5,852,454...5,858,373
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,563,687...5,618,786
Ensembl chrNW_004624823:5,564,550...5,618,786
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,765,284...5,770,778
Ensembl chrNW_004624823:5,763,171...5,770,587
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,359,868...6,383,777
Ensembl chrNW_004624823:6,360,242...6,383,035
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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 chrNW_004624823:6,736,216...6,757,285
Ensembl chrNW_004624823:6,735,497...6,756,093
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Tmem198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,511,326...5,518,032
Ensembl chrNW_004624823:5,511,475...5,517,681
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,314,177...6,352,236
Ensembl chrNW_004624823:6,310,738...6,352,333
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,484,732...6,567,285
Ensembl chrNW_004624823:6,484,772...6,562,990
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,567,107...6,593,258
Ensembl chrNW_004624823:6,566,687...6,588,599
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,126,238...6,140,764
Ensembl chrNW_004624823:6,128,256...6,140,235
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,145,836...6,150,133
Ensembl chrNW_004624823:6,145,545...6,150,181
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:5,805,147...5,808,500
Ensembl chrNW_004624823:5,805,147...5,808,485
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Znf142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004624823:6,397,211...6,417,671
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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 chrNW_004624754:11,033,649...11,155,271
Ensembl chrNW_004624754:11,036,716...11,155,256
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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 chrNW_004624860:1,915,108...1,923,071
Ensembl chrNW_004624860:1,915,344...1,923,062
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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 chrNW_004624754:10,152,635...10,885,239
Ensembl chrNW_004624754:10,153,809...10,885,079
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all