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_004955532:2,163,529...2,283,509
Ensembl chrNW_004955532:2,163,529...2,283,508
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Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868
NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
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Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chrNW_004955477:7,435,324...7,557,212
Ensembl chrNW_004955477:7,434,482...7,556,504
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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_004955419:17,825,868...17,848,868
Ensembl chrNW_004955419:17,825,868...17,848,868
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Glrx3
glutaredoxin 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chrNW_004955477:7,715,257...7,748,913
Ensembl chrNW_004955477:7,715,257...7,752,818
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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_004955433:14,004,813...14,170,631
Ensembl chrNW_004955433:14,004,813...14,172,707
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Kif5a
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955458:5,264,274...5,310,962
Ensembl chrNW_004955458:5,287,111...5,310,962
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Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004955409:24,821,884...24,848,125
Ensembl chrNW_004955409:24,821,884...24,848,125
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chrNW_004955477:7,103,035...7,375,073
Ensembl chrNW_004955477:7,102,977...7,376,530
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Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004955409:23,605,072...23,934,045
Ensembl chrNW_004955409:23,637,019...23,880,323
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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_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
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Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004955409:24,529,414...24,531,293
Ensembl chrNW_004955409:24,529,594...24,530,998
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Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chrNW_004955409:24,401,599...24,443,687
Ensembl chrNW_004955409:24,424,343...24,444,040
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
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Pde2a
phosphodiesterase 2A
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868 PMID:32467598
NCBI chrNW_004955414:18,765,591...18,826,717
Ensembl chrNW_004955414:18,735,822...18,827,236
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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_004955402:45,979,577...46,114,634
Ensembl chrNW_004955402:45,983,826...46,114,752
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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_004955409:23,949,794...24,421,944
Ensembl chrNW_004955409:23,952,595...24,421,307
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Vps13a
vacuolar protein sorting 13 homolog A
ISO
choreoacanthocytosis, OMIM:200150
RGD
PMID:11381253
RGD:1599747
NCBI chrNW_004955512:2,037,803...2,267,197
Ensembl chrNW_004955512:2,039,115...2,267,099
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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_004955420:9,974,466...9,978,789
Ensembl chrNW_004955420:9,953,045...9,978,789
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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_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
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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_004955574:60,652...82,343
Ensembl chrNW_004955574:60,652...82,343
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Nkx2-1
NK2 homeobox 1
ISO
DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) DNA:splice-site mutation:intron:c.464-9C>A (human) DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)
RGD
PMID:11971878 PMID:18788921 PMID:22825795
RGD:11073166 RGD:12914772 RGD:12914773
NCBI chrNW_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
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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_004955409:37,650,220...37,662,950
Ensembl chrNW_004955409:37,650,109...37,663,459
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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_004955409:37,206,675...37,246,851
Ensembl chrNW_004955409:37,206,675...37,246,922
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Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,966,529...35,982,839
Ensembl chrNW_004955409:35,966,332...35,982,218
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Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,318,597...37,329,068
Ensembl chrNW_004955409:37,318,597...37,329,155
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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_004955409:28,067,814...28,516,881
Ensembl chrNW_004955409:28,077,621...28,516,944
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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_004955409:36,795,351...36,803,605
Ensembl chrNW_004955409:36,795,358...36,803,605
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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_004955409:29,482,820...29,530,691
Ensembl chrNW_004955409:29,482,980...29,505,835
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Arf6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,814,814...12,818,142
Ensembl chrNW_004955409:12,817,496...12,818,023
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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_004955409:28,627,176...28,682,302
Ensembl chrNW_004955409:28,627,176...28,705,893
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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_004955550:1,837,903...1,854,490
Ensembl chrNW_004955550:1,837,899...1,856,005
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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_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180
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Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,286,312...25,319,557
Ensembl chrNW_004955409:25,285,974...25,319,557
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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_004955409:36,324,141...36,341,648
Ensembl chrNW_004955409:36,324,474...36,340,931
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Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,880,337...35,882,485
Ensembl chrNW_004955409:35,881,075...35,882,268
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Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,249,377...37,257,420
Ensembl chrNW_004955409:37,249,531...37,256,603
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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_004955409:37,186,282...37,187,914
Ensembl chrNW_004955409:37,186,039...37,187,921
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Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,247,050...26,250,082
Ensembl chrNW_004955409:26,246,369...26,250,082
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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_004955550:2,115,649...2,175,687
Ensembl chrNW_004955550:2,115,649...2,175,181
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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_004955409:35,993,853...35,996,935
Ensembl chrNW_004955409:35,993,853...35,996,935
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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_004955409:22,819,530...22,823,306
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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_004955409:36,957,584...36,960,534
Ensembl chrNW_004955409:36,957,584...36,960,534
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Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,639,274...29,650,389
Ensembl chrNW_004955409:29,639,274...29,650,874
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Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,315,353...36,322,646
Ensembl chrNW_004955409:36,315,353...36,322,646
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CUNH14orf119
chromosome unknown C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,203,604...37,206,853
Ensembl chrNW_004955409:37,203,604...37,206,426
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CUNH14orf93
chromosome unknown C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,290,615...37,315,297
Ensembl chrNW_004955409:37,290,550...37,314,598
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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_004955409:37,670,266...37,688,226
Ensembl chrNW_004955409:37,670,274...37,688,391
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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_004955409:36,272,184...36,279,985
Ensembl chrNW_004955409:36,272,184...36,279,872
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Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,002,576...36,040,595
Ensembl chrNW_004955409:36,002,576...36,009,513
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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_004955409:13,019,941...13,028,378
Ensembl chrNW_004955409:13,020,313...13,027,849
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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_004955409:17,014,194...17,023,953
Ensembl chrNW_004955409:17,012,125...17,024,784
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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_004955409:29,151,779...29,160,734
Ensembl chrNW_004955409:29,151,779...29,160,734
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Eapp
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,383,618...26,411,738
Ensembl chrNW_004955409:26,383,732...26,414,568
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Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,973,522...36,981,079
Ensembl chrNW_004955409:36,973,522...36,981,079
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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_004955409:26,939,933...26,967,156
Ensembl chrNW_004955409:26,939,933...26,967,156
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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_004955409:36,257,904...36,262,120
Ensembl chrNW_004955409:36,257,904...36,262,120
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,751,658...16,809,352
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Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:21,929,863...21,952,812
Ensembl chrNW_004955409:21,930,071...21,951,068
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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_004955409:36,267,121...36,268,462
Ensembl chrNW_004955409:36,267,121...36,268,462
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Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,810,934...16,824,380
Ensembl chrNW_004955409:16,810,710...16,824,380
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Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
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Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:31,672,960...31,674,970
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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_004955409:17,433,213...17,435,957
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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_004955409:29,908,075...29,965,331
Ensembl chrNW_004955409:29,908,148...29,945,497
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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_004955409:22,142,082...22,153,699
Ensembl chrNW_004955409:22,142,078...22,153,698
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Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,166,129...36,173,247
Ensembl chrNW_004955409:36,166,129...36,173,245
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Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,124,200...29,130,823
Ensembl chrNW_004955409:29,124,200...29,130,823
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Haus4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,342,144...37,351,434
Ensembl chrNW_004955409:37,343,712...37,353,562
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Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,208,050...29,312,752
Ensembl chrNW_004955409:29,208,050...29,312,752
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Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,373,572...29,470,623
Ensembl chrNW_004955409:29,373,572...29,470,623
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Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,949,975...2,002,297
Ensembl chrNW_004955550:1,949,975...2,002,297
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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_004955409:37,022,482...37,040,420
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Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,960,902...36,964,038
Ensembl chrNW_004955409:36,961,398...36,964,038
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Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,584,543...25,586,025
Ensembl chrNW_004955409:25,584,904...25,585,998
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Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,214,704...36,223,714
Ensembl chrNW_004955409:36,214,704...36,223,714
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Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,233,633...36,239,916
Ensembl chrNW_004955409:36,234,077...36,239,500
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Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,785,003...36,795,196
Ensembl chrNW_004955409:36,785,003...36,795,196
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Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,871,214...35,880,233
Ensembl chrNW_004955409:35,872,087...35,879,565
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Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,914,446...12,970,266
Ensembl chrNW_004955409:12,912,303...12,970,474
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Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,901,892...12,910,562
Ensembl chrNW_004955409:12,901,892...12,910,562
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Klhl28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,968,099...16,999,697
Ensembl chrNW_004955409:16,984,039...16,999,697
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L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
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LOC102009550
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,921,231...1,923,589
Ensembl chrNW_004955550:1,921,231...1,923,223
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LOC102015352
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,295,101...2,296,367
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LOC102015989
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,352,164...2,353,090
Ensembl chrNW_004955550:2,352,164...2,353,090
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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_004955409:19,710,527...19,969,984
Ensembl chrNW_004955409:19,710,305...19,856,123
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Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,413,471...37,419,485
Ensembl chrNW_004955409:37,412,778...37,419,734
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Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:13,039,029...13,048,038
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Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,984,757...35,991,492
Ensembl chrNW_004955409:35,984,933...35,985,976
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Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,989,425...35,991,492
Ensembl chrNW_004955409:35,989,425...35,991,492
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Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:24,821,884...24,848,125
Ensembl chrNW_004955409:24,821,884...24,848,125
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Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:14,684,252...15,449,388
Ensembl chrNW_004955409:14,684,611...15,449,388
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Mdp1
magnesium dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,183,114...36,185,184
Ensembl chrNW_004955409:36,183,119...36,185,178
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Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,747,234...1,755,136
Ensembl chrNW_004955550:1,747,994...1,756,790
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,211,270...2,227,715
Ensembl chrNW_004955550:2,211,270...2,227,715
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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_004955409:13,029,578...13,032,406
Ensembl chrNW_004955409:13,030,569...13,031,912
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Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:23,605,072...23,934,045
Ensembl chrNW_004955409:23,637,019...23,880,323
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Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,704,414...16,751,469
Ensembl chrNW_004955409:16,710,362...16,750,434
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Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
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Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,452,998...37,457,014
Ensembl chrNW_004955409:37,452,998...37,456,770
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Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,771,514...1,778,693
Ensembl chrNW_004955550:1,767,911...1,780,635
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Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,173,533...36,182,444
Ensembl chrNW_004955409:36,173,533...36,182,444
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Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,855,655...12,901,673
Ensembl chrNW_004955409:12,855,749...12,900,702
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Nfatc4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,931,208...35,941,555
Ensembl chrNW_004955409:35,931,173...35,940,696
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Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
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Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,877,343...36,887,031
Ensembl chrNW_004955409:36,877,343...36,887,031
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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_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
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Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:24,529,414...24,531,293
Ensembl chrNW_004955409:24,529,594...24,530,998
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Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,996,918...36,002,460
Ensembl chrNW_004955409:35,992,160...36,002,459
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Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:33,681,947...33,820,356
Ensembl chrNW_004955409:33,680,587...33,815,818
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Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:27,134,610...27,975,282
Ensembl chrNW_004955409:27,137,667...27,975,282
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Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,279,996...36,313,824
Ensembl chrNW_004955409:36,310,932...36,313,893
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Nubpl
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:28,873,609...29,073,196
Ensembl chrNW_004955409:28,872,189...29,073,206
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Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,890,158...35,910,859
Ensembl chrNW_004955409:35,889,773...35,910,771
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Oxa1l
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,513,925...37,519,250
Ensembl chrNW_004955409:37,514,177...37,519,376
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Pabpn1
poly(A) binding protein nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,000,423...37,004,823
Ensembl chrNW_004955409:37,000,451...37,004,682
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Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:24,401,599...24,443,687
Ensembl chrNW_004955409:24,424,343...24,444,040
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Pck2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,288,402...36,296,761
Ensembl chrNW_004955409:36,288,568...36,296,828
G
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,102,016...22,110,505
G
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,983,488...13,014,669
Ensembl chrNW_004955409:12,983,586...13,014,578
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Ppp1r3e
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,016,851...37,025,125
Ensembl chrNW_004955409:37,022,140...37,023,312
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Ppp2r3c
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,920,973...25,943,985
G
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:30,554,095...30,860,588
Ensembl chrNW_004955409:30,554,013...30,860,649
G
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,369,507...37,378,034
Ensembl chrNW_004955409:37,369,234...37,378,093
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,791,209...25,920,651
Ensembl chrNW_004955409:25,791,575...25,920,077
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Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,824,638...16,845,778
Ensembl chrNW_004955409:16,824,638...16,845,778
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Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,751,578...25,787,533
Ensembl chrNW_004955409:25,750,270...25,787,533
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Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,260,080...37,260,866
G
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,269,319...37,278,957
Ensembl chrNW_004955409:37,268,980...37,279,937
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Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,262,114...36,264,996
Ensembl chrNW_004955409:36,262,114...36,264,994
G
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,252,847...36,257,021
G
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,180,326...2,195,523
Ensembl chrNW_004955550:2,180,326...2,195,523
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Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,336,503...25,582,881
Ensembl chrNW_004955409:25,337,699...25,583,657
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Rbm23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,384,872...37,392,896
G
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,223,783...36,231,749
Ensembl chrNW_004955409:36,223,844...36,230,948
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Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,403,758...37,408,312
Ensembl chrNW_004955409:37,402,212...37,408,312
G
Ripk3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
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Rnase13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,786,550...1,800,191
Ensembl chrNW_004955550:1,786,550...1,800,191
G
Rnase6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,687,068...1,688,160
G
Rnase7
ribonuclease A family member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,796,301...1,797,801
G
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,041,751...37,095,179
G
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,240,008...36,252,166
Ensembl chrNW_004955409:36,240,008...36,252,166
G
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498
G
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:15,612,118...15,613,056
Ensembl chrNW_004955409:15,612,198...15,612,842
G
Rpl36al
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:13,032,499...13,033,876
G
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:13,056,022...13,057,530
Ensembl chrNW_004955409:13,055,341...13,056,437
G
Sall2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,236,129...2,250,829
Ensembl chrNW_004955550:2,237,677...2,250,829
G
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,805,909...29,903,208
Ensembl chrNW_004955409:29,805,909...29,903,208
G
Sdr39u1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,867,944...35,870,847
Ensembl chrNW_004955409:35,867,944...35,870,847
G
Sec23a
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,192,549...22,243,090
Ensembl chrNW_004955409:22,189,181...22,247,467
G
Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:23,949,794...24,421,944
Ensembl chrNW_004955409:23,952,595...24,421,307
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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_004955550:1,762,905...1,765,254
Ensembl chrNW_004955550:1,762,907...1,765,254
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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_004955409:37,467,151...37,513,533
Ensembl chrNW_004955409:37,468,583...37,513,533
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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_004955409:37,119,189...37,171,300
Ensembl chrNW_004955409:37,119,378...37,173,310
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Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,323,940...26,353,675
Ensembl chrNW_004955409:26,319,951...26,352,994
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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_004955409:12,542,353...12,622,165
Ensembl chrNW_004955409:12,542,401...12,620,971
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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_004955409:26,460,208...26,460,854
G
Srp54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,977,226...26,016,351
Ensembl chrNW_004955409:25,977,226...26,016,351
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Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,889,800...22,894,480
Ensembl chrNW_004955409:22,889,800...22,894,480
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Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,529,507...29,636,674
G
Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,096,888...35,358,571
Ensembl chrNW_004955409:35,168,453...35,358,637
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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_004955550:2,074,646...2,114,634
Ensembl chrNW_004955550:2,074,941...2,114,528
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Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,803,721...36,808,094
Ensembl chrNW_004955409:36,804,258...36,808,091
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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_004955409:36,208,797...36,214,830
Ensembl chrNW_004955409:36,208,797...36,214,830
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Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,862,781...1,867,230
Ensembl chrNW_004955550:1,862,719...1,866,822
G
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,885,564...16,967,865
Ensembl chrNW_004955409:16,886,423...16,967,641
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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_004955550:2,195,710...2,209,729
Ensembl chrNW_004955550:2,195,710...2,209,729
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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_004955550:1,779,405...1,785,385
Ensembl chrNW_004955550:1,779,375...1,785,575
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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_004955409:22,117,329...22,131,102
Ensembl chrNW_004955409:22,117,329...22,134,236
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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_004955409:36,190,182...36,191,801
G
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:23,349,294...23,580,993
Ensembl chrNW_004955409:23,348,460...23,568,749
G
Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,622,259...12,632,246
Ensembl chrNW_004955409:12,622,259...12,632,246
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Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,810,188...36,843,108
Ensembl chrNW_004955409:36,827,360...36,839,783
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Znf219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,854,330...1,861,836
G
Gpr88
G protein-coupled receptor 88
ISO
ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation | ClinVar Annotator: match by term: GPR88-related condition
OMIM ClinVar
PMID:25741868 PMID:27123486 PMID:28492532
NCBI chrNW_004955435:5,268,746...5,271,237
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Chorea-acanthocytosis
ClinVar
PMID:15918062
NCBI chrNW_004955512:1,703,750...1,918,321
Ensembl chrNW_004955512:1,707,503...1,917,513
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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_004955422:17,768,469...17,778,976
Ensembl chrNW_004955422:17,768,469...17,779,003
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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_004955512:2,037,803...2,267,197
Ensembl chrNW_004955512:2,039,115...2,267,099
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Abat
4-aminobutyrate aminotransferase
treatment
ISO
RGD
PMID:152600 PMID:6237280
RGD:10046047 RGD:10047058
NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103
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Ache
acetylcholinesterase (Cartwright blood group)
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:19124532
RGD:5686822
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Agtr1
angiotensin II receptor type 1
ISO
protein:decreased expression:putamen:
RGD
PMID:8666063
RGD:10047397
NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
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Aifm1
apoptosis inducing factor mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21297956
RGD:5147768
NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701
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Atf2
activating transcription factor 2
ISO
RGD
PMID:15878807
RGD:10047400
NCBI chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218
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Atf5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chrNW_004955559:1,008,208...1,013,023
Ensembl chrNW_004955559:1,008,208...1,013,023
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Atrx
ATRX chromatin remodeler
ISO
RGD
PMID:22240898
RGD:11040584
NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
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Bag1
BAG cochaperone 1
treatment
ISO
RGD
PMID:18400759
RGD:13506921
NCBI chrNW_004955472:2,394,317...2,405,199
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Bax
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:11299004 PMID:18938217
RGD:10054041 RGD:10054048
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
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Bche
butyrylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
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Bcl2
BCL2 apoptosis regulator
ISO
RGD
PMID:11299004
RGD:10054041
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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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_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
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Casp3
caspase 3
treatment
ISO
RGD
PMID:10888929 PMID:15668790
RGD:10413886 RGD:13432082
NCBI chrNW_004955403:24,315,712...24,326,271
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Casp8
caspase 8
ISO
protein:altered localization:cerebellum:
RGD
PMID:10197541
RGD:734695
NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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Casp9
caspase 9
severity
ISO
protein:increased expression:striatum: protein:increased expression:caudate nucleus:
RGD
PMID:12095160
RGD:13432083
NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
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Cat
catalase
ISO
protein:decreased expression:brain
RGD
PMID:19445928
RGD:5130752
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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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_004955468:3,046,544...3,049,217
Ensembl chrNW_004955468:3,047,931...3,049,080
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Cebpb
CCAAT enhancer binding protein beta
ISO
protein:increased expression:brain (mouse)
RGD
PMID:14749423
RGD:10401227
NCBI chrNW_004955445:8,060,432...8,061,289
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Chat
choline O-acetyltransferase
ISO
mRNA:decreased expression:cerebral cortex
RGD
PMID:16987871
RGD:5686805
NCBI chrNW_004955556:650,290...695,135
Ensembl chrNW_004955556:650,279...693,276
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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_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320
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Cnr2
cannabinoid receptor 2
ISO
RGD
PMID:19115380
RGD:2316196
NCBI chrNW_004955452:3,763,742...3,795,069
Ensembl chrNW_004955452:3,763,742...3,795,069
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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_004955511:3,527,552...3,531,275
Ensembl chrNW_004955511:3,527,552...3,534,348
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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_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149
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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_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
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Ctsh
cathepsin H
ISO
protein:increased expression:caudate nucleus
RGD
PMID:7561949
RGD:5686393
NCBI chrNW_004955533:39,237...54,881
Ensembl chrNW_004955533:39,284...54,837
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Diablo
diablo IAP-binding mitochondrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chrNW_004955482:6,354,502...6,364,424
Ensembl chrNW_004955482:6,354,146...6,365,344
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Dlg4
discs large MAGUK scaffold protein 4
ISO
protein:decreased expression:cerebral cortex, synapse protein:decreased expression:prefrontal cortex
RGD
PMID:24728190 PMID:25568121
RGD:13432154 RGD:13432155
NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872
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Dnah6
dynein axonemal heavy chain 6
treatment
ISO
RGD
PMID:24282028
RGD:13432158
NCBI chrNW_004955424:2,575,333...2,788,742
Ensembl chrNW_004955424:2,575,496...2,787,739
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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_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595
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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_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573
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Drd3
dopamine receptor D3
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178
G
Drd5
dopamine receptor D5
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chrNW_004955514:5,450,495...5,452,282
G
Dusp1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:23392662
RGD:7771544
NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381
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E2f1
E2F transcription factor 1
ISO
protein:increased expression:brain
RGD
PMID:18768156
RGD:2316262
NCBI chrNW_004955422:27,638,625...27,643,261
Ensembl chrNW_004955422:27,633,827...27,642,241
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Egfr
epidermal growth factor receptor
ISO
RGD
PMID:12890790
RGD:10047165
NCBI chrNW_004955456:321,222...456,431
G
Egr1
early growth response 1
ISO
RGD
PMID:12191502
RGD:10395281
NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
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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_004955441:4,908,318...4,944,343
G
Elk1
ETS transcription factor ELK1
ISO
RGD
PMID:20126313
RGD:7488914
NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871
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Ep300
E1A binding protein p300
ISO
RGD
PMID:12586550
RGD:13432192
NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:21297956
RGD:5147768
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
G
Faah
fatty acid amide hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chrNW_004955464:11,873,368...11,885,366
Ensembl chrNW_004955464:11,873,368...11,885,369
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Fas
Fas cell surface death receptor
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
G
Faslg
Fas ligand
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
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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_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26268247
RGD:13792684
NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
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Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16943855
NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
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Git1
GIT ArfGAP 1
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15383276
RGD:1549448
NCBI chrNW_004955481:3,671,728...3,681,279
Ensembl chrNW_004955481:3,670,111...3,685,051
G
Gja1
gap junction protein alpha 1
ISO
RGD
PMID:10873295
RGD:7207854
NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
G
Glul
glutamate-ammonia ligase
ISO
RGD
PMID:3159462 PMID:6237280
RGD:10046047 RGD:13524508
NCBI chrNW_004955406:21,266,383...21,274,546
Ensembl chrNW_004955406:21,266,383...21,275,309
G
Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chrNW_004955532:1,298,336...1,298,830
G
Grik2
glutamate ionotropic receptor kainate type subunit 2
onset
ISO
DNA:repeat: (human)
RGD
PMID:10522893
RGD:1358638
NCBI chrNW_004955411:27,096,214...27,759,503
Ensembl chrNW_004955411:27,103,470...27,801,177
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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_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
onset
ISO
DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) DNA:SNP: :2664C>T (rs1806201) (human)
RGD
PMID:15742215 PMID:17409241 PMID:17569088
RGD:13432195 RGD:13432554 RGD:13432556
NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145
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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_004955414:4,424,245...4,919,399
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Gsr
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:11490092
RGD:10401927
NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
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Haao
3-hydroxyanthranilate 3,4-dioxygenase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chrNW_004955441:10,114,863...10,128,948
Ensembl chrNW_004955441:10,110,380...10,129,015
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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_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864
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Hdac3
histone deacetylase 3
ISO
mRNA:increased expression:cerebral cortex protein:increased expression:striatum:
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chrNW_004955415:12,138,520...12,154,234
Ensembl chrNW_004955415:12,138,870...12,154,234
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Hdac7
histone deacetylase 7
ISO
protein:decreased expression:brain:
RGD
PMID:21118817
RGD:9681718
NCBI chrNW_004955500:6,692,656...6,707,453
Ensembl chrNW_004955500:6,693,668...6,709,864
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:17702587
RGD:5508462
NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
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Hnmt
histamine N-methyltransferase
ISO
RGD
PMID:21106039
RGD:5509774
NCBI chrNW_004955440:5,084,198...5,137,577
Ensembl chrNW_004955440:5,084,081...5,139,348
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Hpca
hippocalcin
ISO
mRNA:decreased expression:brain (human)
RGD
PMID:19686238
RGD:9693681
NCBI chrNW_004955452:11,142,282...11,150,798
Ensembl chrNW_004955452:11,140,373...11,154,261
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Hsf1
heat shock transcription factor 1
treatment
ISO
protein:decreased expression:liver (mouse) human gene in a mouse model
RGD
PMID:16051598 PMID:19443488 PMID:24381308
RGD:10402372 RGD:10402386 RGD:10402387
NCBI chrNW_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression
RGD
PMID:22171050
RGD:5688778
NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984
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Htra2
HtrA serine peptidase 2
ISO
protein:increased expression:striatal neuron (mouse)
RGD
PMID:18662332
RGD:5688723
NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170
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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_004955514:1,906,189...2,042,357
Ensembl chrNW_004955514:1,906,502...2,038,889
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Ift57
intraflagellar transport 57
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chrNW_004955427:8,814,298...8,871,671
Ensembl chrNW_004955427:8,814,298...8,871,720
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Ift88
intraflagellar transport 88
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chrNW_004955497:1,338,959...1,454,788
Ensembl chrNW_004955497:1,338,904...1,455,122
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Igf1
insulin like growth factor 1
treatment
ISO
human protein in a rat model
RGD
PMID:15371744 PMID:23384443 PMID:25140802
RGD:10045865 RGD:10045870 RGD:12904970
NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
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Igf1r
insulin like growth factor 1 receptor
ISO
RGD
PMID:25140802
RGD:10045870
NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
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Il6
interleukin 6
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chrNW_004955410:25,079,835...25,084,390
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Il6r
interleukin 6 receptor
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762
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Ip6k2
inositol hexakisphosphate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652713
NCBI chrNW_004955532:766,577...794,461
Ensembl chrNW_004955532:766,577...794,409
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Kdm5c
lysine demethylase 5C
ISO
mRNA:increased expression:caudate nucleus (human)
RGD
PMID:23872847
RGD:9587806
NCBI chrNW_004955475:243,666...278,064
Ensembl chrNW_004955475:243,666...278,627
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L1cam
L1 cell adhesion molecule
ISO
RGD
PMID:17093074
RGD:6483035
NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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Lep
leptin
ISO
protein:decreased expression:serum
RGD
PMID:19573560
RGD:5128676
NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
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LOC102023786
cytochrome c, somatic
severity
ISO
protein:altered localization:cytosol
RGD
PMID:12095160
RGD:13432083
NCBI chrNW_004955410:27,086,405...27,089,255
Ensembl chrNW_004955410:27,086,405...27,089,255
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Maoa
amine oxidase [flavin-containing] A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
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Maob
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
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Map2
microtubule associated protein 2
ISO
RGD
PMID:20092829
RGD:6483090
NCBI chrNW_004955457:5,678,826...5,816,114
Ensembl chrNW_004955457:5,678,436...5,875,024
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Map3k5
mitogen-activated protein kinase kinase kinase 5
onset treatment
ISO
DNa:SNO:promoter:rs5880308(human) protein:increased expression:cortex,striatum,nucleus:
RGD
PMID:18327563 PMID:19646509
RGD:10412311 RGD:10412314
NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808
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Mbp
myelin basic protein
ISO
protein:decreased expression:brain:
RGD
PMID:21906685
RGD:7349325
NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:striatum
RGD
PMID:21175737
RGD:13204827
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Msh2
mutS homolog 2
onset
ISO
RGD
PMID:12554681
RGD:10412317
NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
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Mtnr1a
melatonin receptor 1A
treatment
ISO
mRNA:decreased expression:brain
RGD
PMID:21994366
RGD:9686058
NCBI chrNW_004955403:22,636,212...22,658,566
Ensembl chrNW_004955403:22,636,212...22,658,566
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Napepld
N-acyl phosphatidylethanolamine phospholipase D
ISO
RGD
PMID:23659592
RGD:10412654
NCBI chrNW_004955410:8,217,684...8,233,302
Ensembl chrNW_004955410:8,220,400...8,247,486
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Ncor1
nuclear receptor corepressor 1
ISO
protein:decreased expression:temporal cortex, neuron, nucleus (human)
RGD
PMID:10441327
RGD:5688338
NCBI chrNW_004955467:1,408,292...1,568,539
Ensembl chrNW_004955467:1,409,281...1,546,842
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
mRNA:increased expression:striatum
RGD
PMID:24008671
RGD:10412688
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:11211235
RGD:10045663
NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
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Ngfr
nerve growth factor receptor
ISO
mRNA:increased expression:caudate nucleus
RGD
PMID:18093249
RGD:10058981
NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305
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Nog
noggin
treatment
ISO
RGD
PMID:17885687
RGD:10415531
NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
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Npy
neuropeptide Y
no_association onset
ISO
mRNA:decreased expression:hypothalamus DNA:SNP: :rs16147 (human) DNA:SNP: :rs3037354 (human)
RGD
PMID:1710657 PMID:23697793 PMID:24121255
RGD:10431606 RGD:10433112 RGD:10433553
NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
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Npy2r
neuropeptide Y receptor Y2
onset
ISO
DNA:SNP: :rs2234759 (human)
RGD
PMID:24121255
RGD:10431606
NCBI chrNW_004955471:11,796,278...11,804,114
Ensembl chrNW_004955471:11,796,278...11,804,114
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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_004955479:10,325,214...10,471,421
Ensembl chrNW_004955479:10,324,443...10,472,875
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19857538
NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
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Optn
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:22318854
RGD:6480499
NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269
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Parp1
poly(ADP-ribose) polymerase 1
ISO
protein:increased expression:neuron,astrocyte:
RGD
PMID:15668790
RGD:10413886
NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
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Pcp4
Purkinje cell protein 4
ISO
protein:decreased expression:substantium
RGD
PMID:9697113
RGD:9850159
NCBI chrNW_004955407:39,853,029...39,908,151
Ensembl chrNW_004955407:39,853,034...39,908,151
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Pde9a
phosphodiesterase 9A
treatment
ISO
RGD
PMID:25315303
RGD:243048432
NCBI chrNW_004955407:39,090,718...39,165,363
Ensembl chrNW_004955407:39,087,952...39,165,370
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Plcb3
phospholipase C beta 3
ISO
RGD
PMID:22917585
RGD:13432582
NCBI chrNW_004955422:20,810,871...20,827,267
Ensembl chrNW_004955422:20,810,544...20,827,267
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Polr2a
RNA polymerase II subunit A
ISO
RGD
PMID:20089533
RGD:10043799
NCBI chrNW_004955467:9,423,540...9,447,530
Ensembl chrNW_004955467:9,421,256...9,447,530
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Ppargc1a
PPARG coactivator 1 alpha
onset no_association treatment severity
ISO
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) DNA:snps, haplotypes:multiple (human) DNA:missense mutation:cds:pT612M (rs3736265) (human) mRNA:decreased expression:caudate nucleus (human) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) mRNA:decreased expression:medium spiny neuron (mouse) DNA:snp:promoter:g.-1437T>C (rs2970870) (human) protein:increased expression:subthalamic nucleus (rat) 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_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
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Ppp1r1b
protein phosphatase 1 regulatory inhibitor subunit 1B
ISO
RGD
PMID:18502785
RGD:13515080
NCBI chrNW_004955451:14,378,186...14,394,910
Ensembl chrNW_004955451:14,389,533...14,394,169
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Ppp1r9a
protein phosphatase 1 regulatory subunit 9A
ISO
mRNA:decreased expression:striatum(mouse) mRNA:decreased expression:caudate nucleus
RGD
PMID:20089533
RGD:10043799
NCBI chrNW_004955432:11,607,269...11,891,568
Ensembl chrNW_004955432:11,608,382...11,886,044
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Ppp3ca
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:19733666
RGD:6483320
NCBI chrNW_004955496:6,934,542...7,059,745
Ensembl chrNW_004955496:6,908,224...7,059,816
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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_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:19464273
RGD:10412729
NCBI chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:14684867
RGD:6483364
NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21362433
RGD:5508227
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Qprt
quinolinate phosphoribosyltransferase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chrNW_004955493:7,225,472...7,243,078
Ensembl chrNW_004955493:7,224,983...7,242,852
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Rcan1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270310
NCBI chrNW_004955407:33,873,427...33,951,762
Ensembl chrNW_004955407:33,873,383...33,951,498
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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_004955588:290,497...338,438
Ensembl chrNW_004955588:290,168...338,426
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Sin3a
SIN3 transcription regulator family member A
ISO
protein:altered localization:cytoplasm
RGD
PMID:10441327
RGD:5688338
NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450
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Sirt1
sirtuin 1
ISO
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) protein:decreased expression:frontal cortex
RGD
PMID:9949199 PMID:18538940 PMID:22179316
RGD:10395240 RGD:9585998 RGD:9586004
NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
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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_004955556:696,779...698,869
Ensembl chrNW_004955556:696,974...698,566
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Slc1a2
solute carrier family 1 member 2
ISO
RGD
PMID:9100675 PMID:17409241
RGD:13432194 RGD:13432195
NCBI chrNW_004955422:10,929,987...11,082,220
Ensembl chrNW_004955422:10,930,296...11,073,032
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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_004955437:9,850,279...9,862,412
Ensembl chrNW_004955437:9,855,434...9,861,929
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Sod2
superoxide dismutase 2
susceptibility
ISO
RGD
PMID:11161607
RGD:13464352
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Srsf6
serine and arginine rich splicing factor 6
ISO
protein:increased expression:striatum (human)
RGD
PMID:25038828
RGD:11039484
NCBI chrNW_004955445:13,663,474...13,669,102
Ensembl chrNW_004955445:13,661,209...13,669,102
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Syne3
spectrin repeat containing nuclear envelope family member 3
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chrNW_004955438:17,093,612...17,178,177
Ensembl chrNW_004955438:17,094,586...17,177,216
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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_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077
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Tfam
transcription factor A, mitochondrial
ISO
mRNA:decreased expression:striatum
RGD
PMID:20529956 PMID:21595933
RGD:6770890 RGD:6771173
NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:12614934
RGD:1580169
NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
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Trip10
thyroid hormone receptor interactor 10
ISO
protein:increased expression:striatum
RGD
PMID:12604778
RGD:11535137
NCBI chrNW_004955495:2,770,449...2,780,650
Ensembl chrNW_004955495:2,770,713...2,780,568
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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_004955428:3,253,363...3,282,518
Ensembl chrNW_004955428:3,274,810...3,283,237
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Ucp2
uncoupling protein 2
ISO
mRNA:decreased expression:peripheral blood (human)
RGD
PMID:23029535
RGD:10045655
NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
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Xpo5
exportin 5
ISO
mRNA:increased expression:striatum (mouse)
RGD
PMID:21035445
RGD:11041745
NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396
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Zdhhc13
zinc finger DHHC-type palmitoyltransferase 13
ISO
OMIM:143100
MouseDO
NCBI chrNW_004955476:105,347...152,415
Ensembl chrNW_004955476:105,347...154,615
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Zdhhc17
zinc finger DHHC-type palmitoyltransferase 17
ISO
OMIM:143100
MouseDO
NCBI chrNW_004955405:15,915,756...15,997,777
Ensembl chrNW_004955405:15,915,756...15,997,777
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Adam33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,523,517...14,535,701
Ensembl chrNW_004955415:14,524,354...14,533,700
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Adissp
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,596,522...14,610,181
Ensembl chrNW_004955415:14,596,522...14,610,181
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Adra1d
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:15,000,257...15,022,712
Ensembl chrNW_004955415:15,000,257...15,022,712
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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_004955415:14,665,450...14,669,456
Ensembl chrNW_004955415:14,664,849...14,672,478
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Atrn
attractin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,341,635...14,505,955
Ensembl chrNW_004955415:14,340,403...14,506,024
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181
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Cdc25b
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,637,295...14,647,181
Ensembl chrNW_004955415:14,629,132...14,650,116
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Cds2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:15,762,672...15,806,454
Ensembl chrNW_004955415:15,792,239...15,806,454
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Cenpb
centromere protein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,626,154...14,628,749
Ensembl chrNW_004955415:14,626,949...14,628,748
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Chgb
chromogranin B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:16,311,769...16,324,962
Ensembl chrNW_004955415:16,311,621...16,325,019
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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_004955415:13,756,752...13,763,764
Ensembl chrNW_004955415:13,756,889...13,763,120
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Crls1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:16,389,379...16,410,486
Ensembl chrNW_004955415:16,389,389...16,411,238
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CUNH20orf141
chromosome unknown C20orf141 homolog
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,770,300...13,771,257
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Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,085,404...14,098,220
Ensembl chrNW_004955415:14,085,404...14,098,856
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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_004955415:14,148,462...14,276,908
Ensembl chrNW_004955415:14,151,551...14,276,627
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Ebf4
EBF family member 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,673,700...13,734,344
Ensembl chrNW_004955415:13,673,700...13,734,344
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Fastkd5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,052,009...14,063,208
Ensembl chrNW_004955415:14,052,406...14,054,850
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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_004955415:16,447,921...16,483,221
Ensembl chrNW_004955415:16,446,934...16,483,369
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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_004955415:14,513,183...14,514,140
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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_004955415:13,970,416...13,974,147
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Gpcpd1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:16,062,068...16,118,029
Ensembl chrNW_004955415:16,060,931...16,118,059
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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_004955415:14,576,956...14,596,135
Ensembl chrNW_004955415:14,576,354...14,596,135
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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_004955415:13,642,804...13,649,023
Ensembl chrNW_004955415:13,643,168...13,649,463
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Itpa
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
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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_004955415:16,413,666...16,423,605
Ensembl chrNW_004955415:16,411,369...16,423,814
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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_004955415:14,065,338...14,075,718
Ensembl chrNW_004955415:14,065,338...14,072,617
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Mavs
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,691,918...14,704,782
Ensembl chrNW_004955415:14,695,438...14,703,672
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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_004955415:16,345,472...16,379,922
Ensembl chrNW_004955415:16,346,253...16,379,021
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Mrps26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,974,393...13,976,839
Ensembl chrNW_004955415:13,974,393...13,976,839
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Nop56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,637,505...13,642,809
Ensembl chrNW_004955415:13,637,595...13,643,938
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,722,951...14,752,493
Ensembl chrNW_004955415:14,723,087...14,751,423
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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_004955415:13,786,243...13,792,914
Ensembl chrNW_004955415:13,782,986...13,792,914
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Pcna
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673
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Pdyn
prodynorphin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515
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Prnd
prion like protein doppel
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:15,469,500...15,474,817
Ensembl chrNW_004955415:15,469,500...15,474,817
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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_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:15,867,017...15,878,471
Ensembl chrNW_004955415:15,866,554...15,878,582
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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_004955415:13,819,934...13,967,068
Ensembl chrNW_004955415:13,819,717...13,967,068
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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_004955415:15,500,726...15,542,939
Ensembl chrNW_004955415:15,500,726...15,541,135
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Rnf24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,755,539...14,816,046
Ensembl chrNW_004955415:14,755,539...14,816,188
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Shld1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:16,180,074...16,282,937
Ensembl chrNW_004955415:16,180,051...16,280,864
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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_004955415:14,539,284...14,560,614
Ensembl chrNW_004955415:14,536,266...14,560,632
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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_004955415:15,565,344...15,677,935
Ensembl chrNW_004955415:15,565,249...15,642,153
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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_004955415:14,123,021...14,133,437
Ensembl chrNW_004955415:14,120,301...14,131,989
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Smox
spermine oxidase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,937,438...14,971,874
Ensembl chrNW_004955415:14,937,131...14,989,972
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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_004955415:13,522,638...13,530,725
Ensembl chrNW_004955415:13,520,530...13,531,466
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Spef1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:14,620,593...14,626,049
Ensembl chrNW_004955415:14,620,593...14,626,049
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Stk35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,212,152...13,249,097
Ensembl chrNW_004955415:13,212,152...13,249,102
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Tgm3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,391,857...13,435,342
Ensembl chrNW_004955415:13,391,831...13,436,007
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Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422
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Tmc2
transmembrane channel like 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,545,266...13,626,125
Ensembl chrNW_004955415:13,565,935...13,625,843
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Tmem230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:15,733,134...15,743,078
Ensembl chrNW_004955415:15,733,134...15,742,909
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Tmem239
transmembrane protein 239
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chrNW_004955415:13,771,688...13,772,415
Ensembl chrNW_004955415:13,771,688...13,772,415
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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_004955415:16,333,766...16,390,112
Ensembl chrNW_004955415:16,330,482...16,344,973
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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_004955415:14,025,908...14,063,204
Ensembl chrNW_004955415:14,023,082...14,040,307
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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_004955415:13,791,611...13,813,500
Ensembl chrNW_004955415:13,791,611...13,813,500
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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_004955541:1,969,197...2,020,868
Ensembl chrNW_004955541:1,969,194...2,017,588
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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_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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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_004955587:828,730...838,614
Ensembl chrNW_004955587:827,278...838,869
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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_004955587:556,105...658,735
Ensembl chrNW_004955587:556,105...658,735
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LOC102012042
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_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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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_004955499:8,159,691...8,173,930
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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_004955587:289,906...388,534
Ensembl chrNW_004955587:287,845...388,557
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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_004955571:1,192,213...1,222,057
Ensembl chrNW_004955571:1,191,700...1,222,309
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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_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959
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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_004955478:7,416,609...7,429,817
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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_004955478:7,376,240...7,396,647
Ensembl chrNW_004955478:7,376,712...7,396,647
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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_004955512:2,037,803...2,267,197
Ensembl chrNW_004955512:2,039,115...2,267,099
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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_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959
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Aamp
angio associated migratory cell protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,104,229...15,109,487
Ensembl chrNW_004955453:15,104,229...15,112,468
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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_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172
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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_004955453:14,196,728...14,204,344
Ensembl chrNW_004955453:14,196,927...14,203,826
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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_004955453:15,117,978...15,145,895
Ensembl chrNW_004955453:15,116,093...15,146,041
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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_004955453:13,937,745...13,961,664
Ensembl chrNW_004955453:13,935,826...13,961,664
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,203,798...14,214,760
Ensembl chrNW_004955453:14,206,065...14,213,729
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:15,008,225...15,015,030
Ensembl chrNW_004955453:15,008,368...15,015,520
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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_004955453:14,471,625...14,474,082
Ensembl chrNW_004955453:14,472,757...14,473,896
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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_004955453:14,394,853...14,431,774
Ensembl chrNW_004955453:14,397,700...14,433,204
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Chpf
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,932,822...13,937,587
Ensembl chrNW_004955453:13,932,822...13,939,350
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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_004955453:14,819,007...14,845,879
Ensembl chrNW_004955453:14,816,910...14,845,912
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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_004955453:14,263,619...14,270,701
Ensembl chrNW_004955453:14,264,707...14,270,732
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Cryba2
crystallin beta A2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,438,658...14,444,469
Ensembl chrNW_004955453:14,441,007...14,444,497
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,971,276...14,976,667
Ensembl chrNW_004955453:14,968,484...14,976,667
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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_004955453:15,181,027...15,196,224
Ensembl chrNW_004955453:15,194,205...15,195,272
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Des
desmin
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
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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_004955453:14,147,286...14,154,396
Ensembl chrNW_004955453:14,148,070...14,154,670
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,072,924...14,082,222
Ensembl chrNW_004955453:14,072,924...14,082,222
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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_004955453:14,449,352...14,453,145
Ensembl chrNW_004955453:14,449,352...14,452,663
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Glb1l
galactosidase beta 1 like
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,185,582...14,196,779
Ensembl chrNW_004955453:14,185,692...14,196,779
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Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,967,118...13,974,351
Ensembl chrNW_004955453:13,965,174...13,974,789
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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_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747
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LOC102004889
sterol 26-hydroxylase, mitochondrial
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366
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LOC102007967
mitochondrial chaperone BCS1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383
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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_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,905,992...13,932,652
Ensembl chrNW_004955453:13,906,013...13,925,681
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Plcd4
phospholipase C delta 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,775,119...14,812,872
Ensembl chrNW_004955453:14,787,677...14,806,485
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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_004955453:15,030,436...15,104,084
Ensembl chrNW_004955453:15,030,436...15,104,084
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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_004955453:14,584,405...14,594,112
Ensembl chrNW_004955453:14,584,412...14,595,369
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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_004955493:7,144,389...7,148,613
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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_004955453:14,126,416...14,145,347
Ensembl chrNW_004955453:14,126,416...14,145,347
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Resp18
regulated endocrine specific protein 18
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,106,430...14,111,920
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,258,523...14,263,573
Ensembl chrNW_004955453:14,258,523...14,263,573
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,753,575...14,761,617
Ensembl chrNW_004955453:14,753,575...14,761,617
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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_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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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_004955453:14,271,343...14,278,233
Ensembl chrNW_004955453:14,271,343...14,278,233
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,979,080...14,033,718
Ensembl chrNW_004955453:13,976,674...14,033,252
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,182,167...14,185,569
Ensembl chrNW_004955453:14,182,066...14,185,584
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,727,779...14,753,534
Ensembl chrNW_004955453:14,728,583...14,753,534
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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_004955453:15,083,179...15,100,197
Ensembl chrNW_004955453:15,092,522...15,099,021
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Tmem198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:13,925,939...13,932,557
Ensembl chrNW_004955453:13,924,608...13,932,557
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,679,945...14,720,025
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Tuba4a
tubulin alpha 4a
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,177,043...14,180,814
Ensembl chrNW_004955453:14,175,866...14,182,023
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,846,044...14,931,336
Ensembl chrNW_004955453:14,846,044...14,931,336
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,935,450...14,961,011
Ensembl chrNW_004955453:14,935,456...14,961,011
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,547,427...14,560,001
Ensembl chrNW_004955453:14,545,700...14,560,976
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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_004955453:14,222,423...14,225,681
Ensembl chrNW_004955453:14,221,002...14,225,681
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Znf142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chrNW_004955453:14,766,665...14,786,403
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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_004955437:14,510,488...14,628,768
Ensembl chrNW_004955437:14,510,488...14,628,768
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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_004955413:2,703,030...2,711,612
Ensembl chrNW_004955413:2,703,030...2,711,612
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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_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all