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G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14660671 |
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NCBI chrNW_004936529:1,889,811...2,023,710
Ensembl chrNW_004936529:1,889,846...2,023,715
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Choreatic disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416
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G |
Ebf3 |
EBF transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal dyskinesia |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936486:16,978,048...17,092,209
Ensembl chrNW_004936486:16,976,442...17,092,228
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G |
Frrs1l |
ferric chelate reductase 1 like |
|
ISO |
ClinVar Annotator: match by term: Choreatic disease |
ClinVar |
PMID:23056405 PMID:25741868 PMID:27236917 PMID:28492532 PMID:32928027 |
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NCBI chrNW_004936559:3,723,325...3,753,209
Ensembl chrNW_004936559:3,722,890...3,750,919
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G |
Glrx3 |
glutaredoxin 3 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal dyskinesia |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936486:17,201,838...17,233,171
Ensembl chrNW_004936486:17,207,309...17,233,171
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G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Choreatic disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28668776 PMID:29389947 PMID:29935962 PMID:30642806 PMID:31130284 PMID:31737037 PMID:31780880 PMID:32581362 More...
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NCBI chrNW_004936475:8,610,123...8,681,606
Ensembl chrNW_004936475:8,565,889...8,690,673
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G |
Kif5a |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832
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G |
Mbip |
MAP3K12 binding inhibitory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
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NCBI chrNW_004936494:10,315,416...10,338,893
Ensembl chrNW_004936494:10,313,442...10,338,950
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal dyskinesia |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543
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G |
Mipol1 |
mirror-image polydactyly 1 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
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NCBI chrNW_004936494:11,177,594...11,494,252
Ensembl chrNW_004936494:11,250,728...11,494,252
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G |
Nkx2-1 |
NK2 homeobox 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA DNA:transition: ; 745C>T |
OMIM ClinVar RGD |
PMID:9536098 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:16220345 PMID:17576681 PMID:19176457 PMID:23379327 PMID:23430038 PMID:24129101 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25741868 PMID:26723978 PMID:28492532 PMID:28503612 PMID:29882472 PMID:30352709 More...
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RGD:1600157 |
NCBI chrNW_004936494:10,517,488...10,520,567
Ensembl chrNW_004936494:10,517,488...10,520,566
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G |
Nkx2-8 |
NK2 homeobox 8 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
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NCBI chrNW_004936494:10,580,445...10,581,798
Ensembl chrNW_004936494:10,580,445...10,581,798
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G |
Pax9 |
paired box 9 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
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NCBI chrNW_004936494:10,657,902...10,673,176
Ensembl chrNW_004936494:10,658,077...10,672,251
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G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Choreatic disease |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936584:5,568,740...5,668,095
Ensembl chrNW_004936584:5,568,728...5,668,116
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G |
Pde2a |
phosphodiesterase 2A |
|
ISO |
ClinVar Annotator: match by term: Choreatic disease |
ClinVar |
PMID:25741868 PMID:32467598 |
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NCBI chrNW_004936498:1,856,256...1,944,405
Ensembl chrNW_004936498:1,856,144...1,944,412
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis class N |
|
ISO |
Dyskinesia, paroxysmal, PIGN-related |
OMIA |
PMID:15474685 PMID:27891564 PMID:28703446 PMID:33769611 PMID:36086931 PMID:38003185 PMID:39119350 More...
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NCBI chrNW_004936497:3,121,184...3,230,912
Ensembl chrNW_004936497:3,124,557...3,234,061
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G |
Slc25a21 |
solute carrier family 25 member 21 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
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NCBI chrNW_004936494:10,675,534...11,157,829
Ensembl chrNW_004936494:10,676,235...11,156,083
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G |
Vps13a |
vacuolar protein sorting 13 homolog A |
|
ISO |
choreoacanthocytosis, OMIM:200150 |
RGD |
PMID:11381253 |
RGD:1599747 |
NCBI chrNW_004936503:12,606,019...12,857,807
Ensembl chrNW_004936503:12,606,014...12,858,005
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G |
Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chrNW_004936566:2,342,995...2,348,345
Ensembl chrNW_004936566:2,343,013...2,368,213
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G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Costeff optic atrophy syndrome |
ClinVar |
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17306754 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30165240 PMID:31500643 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34242285 PMID:37091313 More...
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NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847
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G |
Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome |
OMIM ClinVar |
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 PMID:31119193 PMID:31928268 PMID:32855858 PMID:32883240 More...
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NCBI chrNW_004936706:1,961,571...1,996,637
Ensembl chrNW_004936706:1,964,237...1,995,175
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G |
Nkx2-1 |
NK2 homeobox 1 |
|
ISO |
DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human) DNA:splice-site mutation:intron:c.464-9C>A (human) |
RGD |
PMID:11971878 PMID:18788921 PMID:22825795 |
RGD:11073166 RGD:12914772 RGD:12914773 |
NCBI chrNW_004936494:10,517,488...10,520,567
Ensembl chrNW_004936494:10,517,488...10,520,566
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G |
Abhd4 |
abhydrolase domain containing 4, N-acyl phospholipase B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,658,287...1,671,848
Ensembl chrNW_004936722:1,658,302...1,671,853
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G |
Acin1 |
apoptotic chromatin condensation inducer 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,252,083...1,264,018
Ensembl chrNW_004936722:1,227,198...1,264,855
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G |
Adcy4 |
adenylate cyclase 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:213,916...230,802
Ensembl chrNW_004936722:213,916...230,906
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G |
Ajuba |
ajuba LIM protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,331,568...1,341,854
Ensembl chrNW_004936722:1,331,566...1,341,863
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G |
Akap6 |
A-kinase anchoring protein 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:6,744,923...7,228,670
Ensembl chrNW_004936494:6,744,892...7,228,686
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G |
Ang |
angiogenin |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:39,372...40,070
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G |
Ap1g2 |
adaptor related protein complex 1 subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:851,182...859,238
Ensembl chrNW_004936722:851,917...859,052
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G |
Ap4s1 |
adaptor related protein complex 4 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:5,720,474...5,758,888
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G |
Arf6 |
ARF GTPase 6 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:181,490...185,466
Ensembl chrNW_004936583:181,490...185,471
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G |
Arhgap5 |
Rho GTPase activating protein 5 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:6,562,092...6,624,015
Ensembl chrNW_004936494:6,562,069...6,623,175
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G |
Arhgef40 |
Rho guanine nucleotide exchange factor 40 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:277,002...293,489
Ensembl chrNW_004936880:274,488...292,742
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G |
Baz1a |
bromodomain adjacent to zinc finger domain 1A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620
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G |
Brms1l |
BRMS1 like transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:9,885,446...9,926,978
Ensembl chrNW_004936494:9,885,067...9,929,130
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G |
Carmil3 |
capping protein regulator and myosin 1 linker 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:463,791...480,594
Ensembl chrNW_004936722:464,240...480,590
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G |
Cbln3 |
cerebellin 3 precursor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:125,758...127,002
Ensembl chrNW_004936722:125,758...127,063
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G |
Cdh24 |
cadherin 24 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,265,583...1,276,443
Ensembl chrNW_004936722:1,265,219...1,275,920
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G |
Cebpe |
CCAAT enhancer binding protein epsilon |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,207,718...1,209,482
Ensembl chrNW_004936722:1,207,743...1,209,482
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G |
Cfl2 |
cofilin 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:8,946,442...8,948,320
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G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:546,250...608,061
Ensembl chrNW_004936880:546,236...608,080
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G |
Chmp4a |
charged multivesicular body protein 4A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:341,066...344,928
Ensembl chrNW_004936722:341,307...345,104
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G |
Cideb |
cell death inducing DFFA like effector b |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:241,484...249,935
Ensembl chrNW_004936722:245,567...249,917
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G |
Clec14a |
C-type lectin domain containing 14A |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:12,112,163...12,115,836
Ensembl chrNW_004936494:12,114,371...12,115,787
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G |
Cmtm5 |
CKLF like MARVEL transmembrane domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:993,755...996,362
Ensembl chrNW_004936722:993,877...996,383
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G |
Coch |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083
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G |
Cpne6 |
copine 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:454,818...462,324
Ensembl chrNW_004936722:454,775...462,990
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G |
CUNH14orf119 |
chromosome unknown C14orf119 homolog |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,219,245...1,226,291
Ensembl chrNW_004936722:1,225,863...1,226,291
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G |
CUNH14orf93 |
chromosome unknown C14orf93 homolog |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,304,357...1,327,726
Ensembl chrNW_004936722:1,316,789...1,328,059
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G |
Dad1 |
defender against cell death 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,678,952...1,698,583
Ensembl chrNW_004936722:1,678,862...1,698,579
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G |
Dcaf11 |
DDB1 and CUL4 associated factor 11 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:414,830...422,722
Ensembl chrNW_004936722:414,831...422,694
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G |
Dhrs1 |
dehydrogenase/reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:255,977...265,980
Ensembl chrNW_004936722:256,192...265,985
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G |
Dnaaf2 |
dynein axonemal assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:386,806...394,650
Ensembl chrNW_004936583:387,189...394,910
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G |
Dorip1 |
dopamine receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:4,355,562...4,365,470
Ensembl chrNW_004936583:4,355,492...4,363,107
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G |
Dtd2 |
D-aminoacyl-tRNA deacylase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:6,047,857...6,057,185
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G |
Eapp |
E2F associated phosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:8,772,660...8,795,052
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G |
Eddm3b |
epididymal protein 3B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:64,405...64,897
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G |
Efs |
embryonal Fyn-associated substrate |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,009,966...1,019,093
Ensembl chrNW_004936722:1,010,904...1,019,334
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G |
Egln3 |
egl-9 family hypoxia inducible factor 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:8,240,272...8,267,487
Ensembl chrNW_004936494:8,238,858...8,267,606
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G |
Emc9 |
ER membrane protein complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:403,208...405,497
Ensembl chrNW_004936722:403,112...407,517
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G |
Fancm |
FA complementation group M |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:4,085,802...4,145,621
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G |
Fbxo33 |
F-box protein 33 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:12,930,659...12,969,264
Ensembl chrNW_004936494:12,929,814...12,969,479
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G |
Fitm1 |
fat storage inducing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:410,294...411,680
Ensembl chrNW_004936722:410,294...411,679
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G |
Fkbp3 |
FKBP prolyl isomerase 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:4,146,745...4,162,062
Ensembl chrNW_004936583:4,146,615...4,164,568
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G |
Foxa1 |
forkhead box A1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:11,529,546...11,535,224
Ensembl chrNW_004936494:11,529,546...11,535,224
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G |
Foxg1 |
forkhead box G1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:3,738,419...3,740,419
Ensembl chrNW_004936494:3,736,120...3,739,498
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G |
Fscb |
fibrous sheath CABYR binding protein |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:4,707,636...4,710,286
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G |
G2e3 |
G2/M-phase specific E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:5,352,126...5,409,648
Ensembl chrNW_004936494:5,352,238...5,409,739
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G |
Gemin2 |
gem nuclear organelle associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:12,717,358...12,737,019
Ensembl chrNW_004936494:12,717,268...12,740,193
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G |
Gmpr2 |
guanosine monophosphate reductase 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:323,917...330,648
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G |
Gpr33 |
G protein-coupled receptor 33 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:6,074,140...6,078,747
Ensembl chrNW_004936494:6,074,140...6,078,747
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G |
Haus4 |
HAUS augmin like complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,352,070...1,378,497
Ensembl chrNW_004936722:1,351,990...1,362,333
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G |
Heatr5a |
HEAT repeat containing 5A |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:5,902,543...6,024,106
Ensembl chrNW_004936494:5,903,892...6,008,582
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G |
Hectd1 |
HECT domain E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:5,761,801...5,853,673
Ensembl chrNW_004936494:5,758,347...5,851,952
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G |
Hnrnpc |
heterogeneous nuclear ribonucleoprotein C |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:368,041...425,967
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G |
Homez |
homeobox and leucine zipper encoding |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,069,918...1,085,422
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G |
Il25 |
interleukin 25 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:997,476...1,000,881
Ensembl chrNW_004936722:996,960...1,003,201
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G |
Insm2 |
INSM transcriptional repressor 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:9,645,568...9,648,449
Ensembl chrNW_004936494:9,645,673...9,647,361
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G |
Ipo4 |
importin 4 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:359,741...370,514
Ensembl chrNW_004936722:360,250...373,400
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G |
Irf9 |
interferon regulatory factor 9 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:380,193...385,887
Ensembl chrNW_004936722:380,572...384,372
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G |
Jph4 |
junctophilin 4 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:842,324...851,190
Ensembl chrNW_004936722:841,816...851,135
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G |
Khnyn |
KH and NYN domain containing |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:116,025...124,890
Ensembl chrNW_004936722:116,611...124,832
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G |
Klhdc1 |
kelch domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:294,200...342,289
Ensembl chrNW_004936583:294,799...341,396
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G |
Klhdc2 |
kelch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:256,360...269,131
Ensembl chrNW_004936583:256,394...268,998
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G |
Klhl28 |
kelch like family member 28 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:4,299,148...4,333,973
Ensembl chrNW_004936583:4,319,988...4,333,973
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936495:15,238,726...15,278,840
Ensembl chrNW_004936495:15,238,738...15,278,840
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G |
LOC101961792 |
olfactory receptor 5AU1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:341,227...342,336
Ensembl chrNW_004936880:341,227...342,162
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G |
LOC101963005 |
magnesium-dependent phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:339,510...344,928
Ensembl chrNW_004936722:339,500...342,993
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G |
LOC101964730 |
olfactory receptor 10G3 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:717,841...718,782
Ensembl chrNW_004936880:717,841...718,782
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G |
LOC101965130 |
signal recognition particle 54 kDa protein |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955 Ensembl chrNW_004936494:9,227,321...9,246,955
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G |
LOC101972165 |
myosin-7 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129
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G |
LOC101973872 |
bcl-2-like protein 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,039,970...1,044,942
Ensembl chrNW_004936722:1,053,326...1,059,477 Ensembl chrNW_004936722:1,053,326...1,059,477
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G |
LOC101974914 |
olfactory receptor 1509 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936976:415,720...416,646
Ensembl chrNW_004936976:415,720...416,646
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G |
Lrfn5 |
leucine rich repeat and fibronectin type III domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:14,908,783...15,155,797
Ensembl chrNW_004936494:15,138,854...15,156,555
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G |
Lrp10 |
LDL receptor related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,421,396...1,427,439
Ensembl chrNW_004936722:1,419,259...1,427,497
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G |
Lrr1 |
leucine rich repeat protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936583:407,360...416,226
Ensembl chrNW_004936583:407,481...416,239
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G |
Ltb4r |
leukotriene B4 receptor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:232,320...233,802
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G |
Ltb4r2 |
leukotriene B4 receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:239,811...242,050
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G |
Mbip |
MAP3K12 binding inhibitory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:10,315,416...10,338,893
Ensembl chrNW_004936494:10,313,442...10,338,950
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G |
Mdga2 |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:2,048,655...2,804,135
Ensembl chrNW_004936583:2,048,733...2,804,135
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G |
Mettl17 |
methyltransferase like 17 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:200,355...208,394
Ensembl chrNW_004936880:200,396...207,817
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G |
Mettl3 |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:646,835...661,312
Ensembl chrNW_004936880:644,079...661,544
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G |
Mgat2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:396,787...399,697
Ensembl chrNW_004936583:398,190...399,533
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G |
Mia2 |
MIA SH3 domain ER export factor 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:12,805,990...12,911,754
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G |
Mipol1 |
mirror-image polydactyly 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:11,177,594...11,494,252
Ensembl chrNW_004936494:11,250,728...11,494,252
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G |
Mis18bp1 |
MIS18 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:4,052,207...4,083,679
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G |
Mmp14 |
matrix metallopeptidase 14 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611
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G |
Mrpl52 |
mitochondrial ribosomal protein L52 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,459,263...1,464,208
Ensembl chrNW_004936722:1,459,241...1,465,114
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G |
Ndrg2 |
NDRG family member 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936880:219,131...227,856
Ensembl chrNW_004936880:219,102...228,246
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G |
Nedd8 |
NEDD8 ubiquitin like modifier |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:331,116...338,496
Ensembl chrNW_004936722:331,136...338,496
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G |
Nemf |
nuclear export mediator factor |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:209,818...255,439
Ensembl chrNW_004936583:209,813...255,131
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G |
Nfatc4 |
nuclear factor of activated T cells 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:178,866...187,847
Ensembl chrNW_004936722:179,200...187,800
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G |
Nfkbia |
NFKB inhibitor alpha |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612
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G |
Ngdn |
neuroguidin |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:932,336...941,895
Ensembl chrNW_004936722:932,238...942,046
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G |
Nkx2-1 |
NK2 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
OMIM ClinVar |
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 More...
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NCBI chrNW_004936494:10,517,488...10,520,567
Ensembl chrNW_004936494:10,517,488...10,520,566
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G |
Nkx2-8 |
NK2 homeobox 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:10,580,445...10,581,798
Ensembl chrNW_004936494:10,580,445...10,581,798
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G |
Nop9 |
NOP9 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:250,001...255,908
Ensembl chrNW_004936722:249,358...256,192
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G |
Nova1 |
NOVA alternative splicing regulator 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:1,720,030...1,853,177
Ensembl chrNW_004936494:1,717,268...1,853,430
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G |
Npas3 |
neuronal PAS domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:7,965,156...8,144,244
Ensembl chrNW_004936494:7,310,005...8,143,610
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G |
Nrl |
neural retina leucine zipper |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553
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G |
Nubpl |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:6,141,444...6,365,537
Ensembl chrNW_004936494:6,141,476...6,363,830
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G |
Nynrin |
NYN domain and retroviral integrase containing |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:134,221...155,020
Ensembl chrNW_004936722:134,190...155,115
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G |
Oxa1l |
OXA1L mitochondrial inner membrane insertase |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,524,116...1,528,659
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G |
Pax9 |
paired box 9 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:10,657,902...10,673,176
Ensembl chrNW_004936494:10,658,077...10,672,251
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G |
Pck2 |
phosphoenolpyruvate carboxykinase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:428,473...450,452
Ensembl chrNW_004936722:428,307...437,328
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G |
Pnn |
pinin, desmosome associated protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:12,762,175...12,769,986
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G |
Pole2 |
DNA polymerase epsilon 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:340,428...386,633
Ensembl chrNW_004936583:341,456...386,395
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G |
Ppp1r3e |
protein phosphatase 1 regulatory subunit 3E |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,062,669...1,066,611
Ensembl chrNW_004936722:1,063,576...1,066,617
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G |
Ppp2r3c |
protein phosphatase 2 regulatory subunit B''gamma |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019
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G |
Prkd1 |
protein kinase D1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:4,469,092...4,601,183
Ensembl chrNW_004936494:4,469,089...4,601,214
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G |
Prmt5 |
protein arginine methyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:1,379,515...1,388,538
Ensembl chrNW_004936722:1,379,515...1,388,546
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G |
Prorp |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:9,282,894...9,414,350
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G |
Prpf39 |
pre-mRNA processing factor 39 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936583:4,162,381...4,194,615
Ensembl chrNW_004936583:4,161,945...4,194,699
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G |
Psma6 |
proteasome 20S subunit alpha 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936494:9,443,176...9,467,697
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G |
Psmb11 |
proteasome subunit beta 11 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:1,279,867...1,281,232
Ensembl chrNW_004936722:1,280,042...1,280,923
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G |
Psmb5 |
proteasome 20S subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:1,285,488...1,293,637
Ensembl chrNW_004936722:1,285,482...1,295,106
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G |
Psme1 |
proteasome activator subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:405,491...408,277
Ensembl chrNW_004936722:403,112...408,473
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G |
Psme2 |
proteasome activator subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936722:398,406...401,987
Ensembl chrNW_004936722:397,876...402,167
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G |
Rab2b |
RAB2B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:610,903...628,176
Ensembl chrNW_004936880:610,878...628,753
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G |
Rabggta |
Rab geranylgeranyltransferase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:283,682...289,548
Ensembl chrNW_004936722:283,544...290,429
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G |
Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:9,649,444...9,866,942
Ensembl chrNW_004936494:9,659,285...9,866,408
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G |
Rbm23 |
RNA binding motif protein 23 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:1,389,534...1,402,487
Ensembl chrNW_004936722:1,397,697...1,401,372
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G |
Rec8 |
REC8 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:369,366...375,243
Ensembl chrNW_004936722:369,423...375,243
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G |
Rem2 |
RRAD and GEM like GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:1,412,068...1,416,967
Ensembl chrNW_004936722:1,410,731...1,416,991
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G |
Ripk3 |
receptor interacting serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839
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G |
Rnase1 |
ribonuclease A family member 1, pancreatic |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:91,085...92,743
Ensembl chrNW_004936880:91,088...92,720
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G |
Rnase13 |
ribonuclease A family member 13 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:233,200...245,256
Ensembl chrNW_004936880:233,977...234,447
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G |
Rnase4 |
ribonuclease A family member 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:41,940...42,988
Ensembl chrNW_004936880:34,289...43,209
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G |
Rnase6 |
ribonuclease A family member 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:78,532...79,342
Ensembl chrNW_004936880:78,081...79,021
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G |
Rnf212b |
ring finger protein 212B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:1,086,237...1,116,352
Ensembl chrNW_004936722:1,088,424...1,116,352
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G |
Rnf31 |
ring finger protein 31 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:385,972...397,718
Ensembl chrNW_004936722:385,971...398,030
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G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685
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G |
Rpl10l |
ribosomal protein L10 like |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936583:2,975,604...2,976,248
Ensembl chrNW_004936583:2,975,604...2,976,248
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G |
Rpl36al |
ribosomal protein L36a like |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936583:400,117...401,489
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G |
Rps29 |
ribosomal protein S29 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936583:426,476...428,008
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G |
Sall2 |
spalt like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:670,063...685,532
Ensembl chrNW_004936880:668,789...685,594
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G |
Scfd1 |
sec1 family domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:5,410,219...5,501,687
Ensembl chrNW_004936494:5,410,269...5,501,498
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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_004936722:111,958...114,925
Ensembl chrNW_004936722:111,896...117,820
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G |
Sec23a |
SEC23 homolog A, COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:12,643,790...12,702,390
Ensembl chrNW_004936494:12,642,870...12,699,218
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G |
Slc22a17 |
solute carrier family 22 member 17 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:1,023,026...1,029,484
Ensembl chrNW_004936722:1,022,971...1,029,672
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G |
Slc25a21 |
solute carrier family 25 member 21 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:10,675,534...11,157,829
Ensembl chrNW_004936494:10,676,235...11,156,083
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|
G |
Slc39a2 |
solute carrier family 39 member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:207,810...211,876
Ensembl chrNW_004936880:209,738...211,531
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|
G |
Slc7a7 |
solute carrier family 7 member 7 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:1,464,252...1,523,786
Ensembl chrNW_004936722:1,478,240...1,527,121
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|
G |
Slc7a8 |
solute carrier family 7 member 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:1,143,405...1,202,407
Ensembl chrNW_004936722:1,143,309...1,202,514
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|
G |
Snx6 |
sorting nexin 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:8,819,695...8,880,298
Ensembl chrNW_004936494:8,821,147...8,879,446
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|
G |
Sos2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936495:15,286,524...15,365,598
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|
G |
Sptssa |
serine palmitoyltransferase small subunit A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:8,717,821...8,738,923
Ensembl chrNW_004936494:8,716,829...8,739,066
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G |
Sstr1 |
somatostatin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:12,065,388...12,067,759
Ensembl chrNW_004936494:12,065,473...12,066,648
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G |
Strn3 |
striatin 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:5,635,870...5,722,123
Ensembl chrNW_004936494:5,634,191...5,722,462
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G |
Stxbp6 |
syntaxin binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:250,131...494,599
Ensembl chrNW_004936494:250,126...438,956
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|
G |
Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:511,699...545,364
Ensembl chrNW_004936880:508,244...545,369
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|
G |
Tgm1 |
transglutaminase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:292,999...306,540
Ensembl chrNW_004936722:292,143...306,572
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G |
Thtpa |
thiamine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:858,119...904,630
Ensembl chrNW_004936722:855,975...863,098
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|
G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:320,171...323,703
Ensembl chrNW_004936722:320,917...324,492
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G |
Tm9sf1 |
transmembrane 9 superfamily member 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:352,918...359,905
Ensembl chrNW_004936722:353,710...359,905
|
|
G |
Tmem253 |
transmembrane protein 253 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:302,889...307,007
Ensembl chrNW_004936880:304,740...306,616
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|
G |
Togaram1 |
TOG array regulator of axonemal microtubules 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936583:4,213,853...4,298,916
Ensembl chrNW_004936583:4,213,847...4,298,945
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|
G |
Tox4 |
TOX high mobility group box family member 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:628,316...646,006
Ensembl chrNW_004936880:627,576...646,006
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G |
Tppp2 |
tubulin polymerization promoting protein family member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:230,626...232,540
Ensembl chrNW_004936880:230,626...232,540
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G |
Trappc6b |
trafficking protein particle complex subunit 6B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:12,740,268...12,758,697
Ensembl chrNW_004936494:12,740,268...12,758,662
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G |
Tssk4 |
testis specific serine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:345,698...348,531
Ensembl chrNW_004936722:346,070...348,418
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G |
Ttc6 |
tetratricopeptide repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936494:11,555,002...11,744,814
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G |
Vcpkmt |
valosin containing protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004940197:408...5,645
Ensembl chrNW_004940197:1,070...5,090
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G |
Zfhx2 |
zinc finger homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936722:865,197...895,848
Ensembl chrNW_004936722:864,735...895,848
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G |
Znf219 |
zinc finger protein 219 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:293,874...308,160
Ensembl chrNW_004936880:289,876...298,243
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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 |
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NCBI chrNW_004936748:657,876...662,831
Ensembl chrNW_004936748:657,587...662,769
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G |
LOC101971412 |
guanine nucleotide-binding protein subunit alpha-14 |
|
ISO |
ClinVar Annotator: match by term: Chorea-acanthocytosis |
ClinVar |
PMID:15918062 |
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NCBI chrNW_004936503:12,860,296...13,056,880
Ensembl chrNW_004936503:12,859,715...13,056,244
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G |
Tcirg1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
|
ISO |
ClinVar Annotator: match by term: Chorea-acanthocytosis |
ClinVar |
PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 PMID:25525159 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206
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G |
Vps13a |
vacuolar protein sorting 13 homolog A |
|
ISO |
ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: Choreaacanthocytosis | 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 PMID:33305042 PMID:33652783 More...
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|
NCBI chrNW_004936503:12,606,019...12,857,807
Ensembl chrNW_004936503:12,606,014...12,858,005
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G |
Abat |
4-aminobutyrate aminotransferase |
treatment |
ISO |
|
RGD |
PMID:152600 PMID:6237280 |
RGD:10046047 RGD:10047058 |
NCBI chrNW_004936530:7,543,743...7,621,392
Ensembl chrNW_004936530:7,543,682...7,622,667
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G |
Ache |
acetylcholinesterase (Cartwright blood group) |
|
ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:2953866 |
RGD:5688127 |
NCBI chrNW_004936543:856,678...862,080
Ensembl chrNW_004936543:856,676...862,109
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:19124532 |
RGD:5686822 |
NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
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G |
Agtr1 |
angiotensin II receptor type 1 |
|
ISO |
protein:decreased expression:putamen: |
RGD |
PMID:8666063 |
RGD:10047397 |
NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985
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G |
Aifm1 |
apoptosis inducing factor mitochondria associated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12930891 |
|
NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107
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G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:21297956 |
RGD:5147768 |
NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127
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G |
Atf2 |
activating transcription factor 2 |
|
ISO |
|
RGD |
PMID:15878807 |
RGD:10047400 |
NCBI chrNW_004936509:4,729,984...4,826,367
Ensembl chrNW_004936509:4,732,930...4,826,443
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G |
Atf5 |
activating transcription factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28861715 |
|
NCBI chrNW_004936664:3,713,527...3,717,824
Ensembl chrNW_004936664:3,713,527...3,717,824
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G |
Atrx |
ATRX chromatin remodeler |
|
ISO |
|
RGD |
PMID:22240898 |
RGD:11040584 |
NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620
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G |
Bag1 |
BAG cochaperone 1 |
treatment |
ISO |
|
RGD |
PMID:18400759 |
RGD:13506921 |
NCBI chrNW_004936524:1,793,001...1,804,145
Ensembl chrNW_004936524:1,791,119...1,804,151
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
|
RGD |
PMID:11299004 PMID:18938217 |
RGD:10054041 RGD:10054048 |
NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820
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G |
Bche |
butyrylcholinesterase |
|
ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:2953866 |
RGD:5688127 |
NCBI chrNW_004936707:1,784,338...1,913,401
Ensembl chrNW_004936707:1,854,444...1,913,460
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G |
Bcl2 |
BCL2 apoptosis regulator |
|
ISO |
|
RGD |
PMID:11299004 |
RGD:10054041 |
NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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G |
Bdnf |
brain derived neurotrophic factor |
treatment |
ISO |
mRNA, protein:decreased expression:cerebral cortex |
RGD |
PMID:17885687 PMID:18093249 PMID:19499586 |
RGD:10058981 RGD:10059353 RGD:10415531 |
NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014
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G |
Casp3 |
caspase 3 |
treatment |
ISO |
|
RGD |
PMID:10888929 PMID:15668790 |
RGD:10413886 RGD:13432082 |
NCBI chrNW_004936554:4,571,072...4,593,765
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G |
Casp8 |
caspase 8 |
|
ISO |
protein:altered localization:cerebellum: |
RGD |
PMID:10197541 |
RGD:734695 |
NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922
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G |
Casp9 |
caspase 9 |
severity |
ISO |
protein:increased expression:caudate nucleus: protein:increased expression:striatum: |
RGD |
PMID:12095160 |
RGD:13432083 |
NCBI chrNW_004936474:3,178,097...3,196,130
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G |
Cat |
catalase |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:19445928 |
RGD:5130752 |
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
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G |
Cebpa |
CCAAT enhancer binding protein alpha |
treatment |
ISO |
protein:altered localization:liver (mouse) |
RGD |
PMID:17213233 PMID:21651979 |
RGD:10401191 RGD:6484269 |
NCBI chrNW_004936570:2,513,561...2,516,213
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Chat |
choline O-acetyltransferase |
|
ISO |
mRNA:decreased expression:cerebral cortex |
RGD |
PMID:16987871 |
RGD:5686805 |
NCBI chrNW_004936728:653,654...702,433
Ensembl chrNW_004936728:654,638...700,213
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G |
Cib1 |
calcium and integrin binding 1 |
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ISO |
mRNA:increased expression:head of caudate nucleus (mouse) |
RGD |
PMID:24324398 |
RGD:10401859 |
NCBI chrNW_004936483:15,963,863...15,967,458
Ensembl chrNW_004936483:15,960,036...15,968,094
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G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929960 |
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NCBI chrNW_004936510:3,779,930...3,806,615
Ensembl chrNW_004936510:3,781,210...3,802,693
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G |
Cnr2 |
cannabinoid receptor 2 |
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ISO |
|
RGD |
PMID:19115380 |
RGD:2316196 |
NCBI chrNW_004936474:9,019,044...9,020,110
Ensembl chrNW_004936474:9,019,067...9,020,110
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G |
Cntf |
ciliary neurotrophic factor |
treatment |
ISO |
human gene in a cynomolgus monkey model |
RGD |
PMID:9121555 PMID:12040055 |
RGD:628474 RGD:734795 |
NCBI chrNW_004936581:3,710,171...3,715,753
Ensembl chrNW_004936581:3,710,160...3,715,638
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G |
Creb1 |
cAMP responsive element binding protein 1 |
|
ISO |
protein:decreased phosphorylation:neuron: |
RGD |
PMID:11967539 PMID:16420411 |
RGD:10059577 RGD:734817 |
NCBI chrNW_004936631:3,721,307...3,785,346
Ensembl chrNW_004936631:3,721,313...3,780,892
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G |
Crebbp |
CREB binding protein |
disease_progression treatment |
ISO |
protein:altered localization:nucleus |
RGD |
PMID:11264541 PMID:19291221 PMID:20448484 |
RGD:10059583 RGD:13432093 RGD:13432094 |
NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617
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G |
Ctsh |
cathepsin H |
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ISO |
protein:increased expression:caudate nucleus |
RGD |
PMID:7561949 |
RGD:5686393 |
NCBI chrNW_004936471:37,135,200...37,156,081
Ensembl chrNW_004936471:37,131,817...37,156,476
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G |
Diablo |
diablo IAP-binding mitochondrial protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12930891 |
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NCBI chrNW_004936558:2,260,459...2,268,941
Ensembl chrNW_004936558:2,260,359...2,268,941
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G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
ISO |
protein:decreased expression:prefrontal cortex protein:decreased expression:cerebral cortex, synapse |
RGD |
PMID:24728190 PMID:25568121 |
RGD:13432154 RGD:13432155 |
NCBI chrNW_004936595:487,918...513,843
Ensembl chrNW_004936595:485,554...513,815
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G |
Dnah6 |
dynein axonemal heavy chain 6 |
treatment |
ISO |
|
RGD |
PMID:24282028 |
RGD:13432158 |
NCBI chrNW_004936650:3,342,351...3,604,929
Ensembl chrNW_004936650:3,343,654...3,604,573
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G |
Drd1 |
dopamine receptor D1 |
|
ISO |
protein:decreased expression:cerebral cortex (mouse) |
RGD |
PMID:12111832 PMID:16905556 PMID:18815258 |
RGD:2302117 RGD:5686414 RGD:7248682 |
NCBI chrNW_004936609:790,647...795,187
Ensembl chrNW_004936609:792,276...793,613
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G |
Drd2 |
dopamine receptor D2 |
|
ISO |
protein:decreased expression:cerebral cortex (mouse) |
RGD |
PMID:12111832 PMID:16905556 |
RGD:5686414 RGD:7248682 |
NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798
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G |
Drd3 |
dopamine receptor D3 |
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ISO |
|
RGD |
PMID:12111832 |
RGD:5686414 |
NCBI chrNW_004936536:1,580,732...1,616,726
Ensembl chrNW_004936536:1,580,732...1,616,725
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G |
Drd5 |
dopamine receptor D5 |
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ISO |
|
RGD |
PMID:12111832 |
RGD:5686414 |
NCBI chrNW_004936477:16,860,222...16,863,505
Ensembl chrNW_004936477:16,861,773...16,863,215
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G |
Dusp1 |
dual specificity phosphatase 1 |
treatment |
ISO |
|
RGD |
PMID:23392662 |
RGD:7771544 |
NCBI chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408
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G |
E2f1 |
E2F transcription factor 1 |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:18768156 |
RGD:2316262 |
NCBI chrNW_004936561:6,894,827...6,901,058
Ensembl chrNW_004936561:6,896,063...6,900,026
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
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RGD |
PMID:12890790 |
RGD:10047165 |
NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
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G |
Egr1 |
early growth response 1 |
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ISO |
|
RGD |
PMID:12191502 |
RGD:10395281 |
NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2 alpha kinase 2 |
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ISO |
|
RGD |
PMID:11468270 PMID:15567511 |
RGD:10395345 RGD:10395348 |
NCBI chrNW_004936663:1,127,047...1,157,263
Ensembl chrNW_004936663:1,126,977...1,157,137
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G |
Elk1 |
ETS transcription factor ELK1 |
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ISO |
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RGD |
PMID:20126313 |
RGD:7488914 |
NCBI chrNW_004936502:13,402,726...13,418,214
Ensembl chrNW_004936502:13,402,728...13,418,214
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
|
RGD |
PMID:12586550 |
RGD:13432192 |
NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138
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G |
F2 |
coagulation factor II, thrombin |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:21297956 |
RGD:5147768 |
NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650
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G |
Faah |
fatty acid amide hydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929960 |
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NCBI chrNW_004936474:27,419,211...27,441,061
Ensembl chrNW_004936474:27,419,078...27,441,039
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G |
Fas |
Fas cell surface death receptor |
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ISO |
protein:decreased expression:putamen,caudate: |
RGD |
PMID:11054182 |
RGD:12903948 |
NCBI chrNW_004936735:209,369...234,582
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G |
Faslg |
Fas ligand |
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ISO |
protein:decreased expression:putamen,caudate: |
RGD |
PMID:11054182 |
RGD:12903948 |
NCBI chrNW_004936481:14,789,547...14,795,780
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G |
Foxp1 |
forkhead box P1 |
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ISO |
mRNA:decreased expression:caudate nucleus (human) mRNA:decreased expression:striatum (mouse) |
RGD |
PMID:16405510 |
RGD:11560524 |
NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
|
RGD |
PMID:26268247 |
RGD:13792684 |
NCBI chrNW_004936709:1,243,149...1,247,782
Ensembl chrNW_004936709:1,243,147...1,247,903
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G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16943855 |
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NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753
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G |
Git1 |
GIT ArfGAP 1 |
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ISO |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:15383276 |
RGD:1549448 |
NCBI chrNW_004936538:5,684,660...5,694,779
Ensembl chrNW_004936538:5,684,644...5,695,043
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G |
Gja1 |
gap junction protein alpha 1 |
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ISO |
|
RGD |
PMID:10873295 |
RGD:7207854 |
NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
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G |
Glul |
glutamate-ammonia ligase |
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ISO |
|
RGD |
PMID:3159462 PMID:6237280 |
RGD:10046047 RGD:13524508 |
NCBI chrNW_004936481:7,293,301...7,301,416
Ensembl chrNW_004936481:7,293,091...7,306,202
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
|
RGD |
PMID:18588971 |
RGD:13432193 |
NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
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G |
Gpx6 |
glutathione peroxidase 6 |
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ISO |
|
RGD |
PMID:18588971 |
RGD:13432193 |
NCBI chrNW_004936914:535,324...543,114
Ensembl chrNW_004936914:535,324...543,114
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G |
Grik2 |
glutamate ionotropic receptor kainate type subunit 2 |
onset |
ISO |
DNA:repeat: (human) |
RGD |
PMID:10522893 |
RGD:1358638 |
NCBI chrNW_004936651:2,756,559...3,401,806
Ensembl chrNW_004936651:2,762,380...3,401,808
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
onset |
ISO |
DNA:SNPs: :rs8057394, rs2650427 (human) DNA:SNPs: :rs1969060 (human) |
RGD |
PMID:15742215 PMID:17409241 PMID:17569088 |
RGD:13432195 RGD:13432554 RGD:13432556 |
NCBI chrNW_004936530:8,286,101...8,612,183
Ensembl chrNW_004936530:8,287,574...8,608,343
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
onset |
ISO |
DNA:SNP: :2664C>T (rs1806201) (human) DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) |
RGD |
PMID:15742215 PMID:17409241 PMID:17569088 |
RGD:13432195 RGD:13432554 RGD:13432556 |
NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664
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G |
Grm5 |
glutamate metabotropic receptor 5 |
treatment disease_progression |
ISO |
|
RGD |
PMID:15306259 PMID:23489026 PMID:24282028 PMID:25160573 |
RGD:13432158 RGD:13432558 RGD:13432561 RGD:13432562 |
NCBI chrNW_004936736:623,118...1,060,273
Ensembl chrNW_004936736:623,013...1,064,054
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G |
Gsr |
glutathione-disulfide reductase |
treatment |
ISO |
|
RGD |
PMID:11490092 |
RGD:10401927 |
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
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G |
Haao |
3-hydroxyanthranilate 3,4-dioxygenase |
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ISO |
|
RGD |
PMID:2527078 |
RGD:13524507 |
NCBI chrNW_004936508:8,971,516...8,987,235
Ensembl chrNW_004936508:8,971,477...8,986,404
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G |
Hap1 |
huntingtin associated protein 1 |
no_association onset |
ISO |
DNA:SNP: :p.T441M (human) DNA:SNP: :rs4523977 (human) DNA:SNP:multiple |
RGD |
PMID:18192679 PMID:20512606 PMID:22402331 PMID:22698993 PMID:24324398 PMID:26000918 More...
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RGD:10401859 RGD:13432575 RGD:13432576 RGD:13432577 RGD:13432578 RGD:13432579 |
NCBI chrNW_004936490:16,645,116...16,652,310
Ensembl chrNW_004936490:16,643,520...16,652,479
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G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
mRNA:increased expression:cerebral cortex protein:increased expression:striatum: |
RGD |
PMID:22918830 PMID:22965876 |
RGD:10402189 RGD:9590098 |
NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860
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G |
Hdac3 |
histone deacetylase 3 |
|
ISO |
mRNA:increased expression:cerebral cortex protein:increased expression:striatum: |
RGD |
PMID:22918830 PMID:22965876 |
RGD:10402189 RGD:9590098 |
NCBI chrNW_004936504:12,530,546...12,546,556
Ensembl chrNW_004936504:12,530,528...12,546,556
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G |
Hdac7 |
histone deacetylase 7 |
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ISO |
protein:decreased expression:brain: |
RGD |
PMID:21118817 |
RGD:9681718 |
NCBI chrNW_004936512:5,680,564...5,701,182
Ensembl chrNW_004936512:5,682,490...5,697,869
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
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RGD |
PMID:17702587 |
RGD:5508462 |
NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532
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G |
Hnmt |
histamine N-methyltransferase |
|
ISO |
|
RGD |
PMID:21106039 |
RGD:5509774 |
NCBI chrNW_004936469:38,125,877...38,166,429
Ensembl chrNW_004936469:38,122,454...38,166,398
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G |
Hpca |
hippocalcin |
|
ISO |
mRNA:decreased expression:brain (human) |
RGD |
PMID:19686238 |
RGD:9693681 |
NCBI chrNW_004936474:15,786,171...15,794,830
Ensembl chrNW_004936474:15,785,879...15,798,740
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G |
Hsf1 |
heat shock transcription factor 1 |
treatment |
ISO |
human gene in a mouse model protein:decreased expression:liver (mouse) |
RGD |
PMID:16051598 PMID:19443488 PMID:24381308 |
RGD:10402372 RGD:10402386 RGD:10402387 |
NCBI chrNW_004936470:7,927,734...7,950,805
Ensembl chrNW_004936470:7,928,095...7,933,337
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G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
protein: increased expression |
RGD |
PMID:22171050 |
RGD:5688778 |
NCBI chrNW_004936542:7,577,192...7,581,598
Ensembl chrNW_004936542:7,577,149...7,581,923
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G |
Htra2 |
HtrA serine peptidase 2 |
|
ISO |
protein:increased expression:striatal neuron (mouse) |
RGD |
PMID:18662332 |
RGD:5688723 |
NCBI chrNW_004936556:741,718...746,016
Ensembl chrNW_004936556:741,718...749,090
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G |
Ift57 |
intraflagellar transport 57 |
|
ISO |
protein:altered localization:cilia |
RGD |
PMID:25989602 |
RGD:13432581 |
NCBI chrNW_004936645:1,471,393...1,524,193
Ensembl chrNW_004936645:1,468,375...1,524,238
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G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
protein:altered localization:cilia |
RGD |
PMID:25989602 |
RGD:13432581 |
NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748
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G |
Igf1 |
insulin like growth factor 1 |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:15371744 PMID:23384443 PMID:25140802 |
RGD:10045865 RGD:10045870 RGD:12904970 |
NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
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G |
Igf1r |
insulin like growth factor 1 receptor |
|
ISO |
|
RGD |
PMID:25140802 |
RGD:10045870 |
NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
|
RGD |
PMID:11860469 |
RGD:10402809 |
NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Il6r |
interleukin 6 receptor |
treatment |
ISO |
|
RGD |
PMID:11860469 |
RGD:10402809 |
NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885
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G |
Ip6k2 |
inositol hexakisphosphate kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21652713 |
|
NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor type 1 |
|
ISO |
protein:decreased activity:cerebellum, striatum (mouse) protein:decreased expression:neostriatum (rat) |
RGD |
PMID:9761455 PMID:19193873 PMID:21145001 |
RGD:6480685 RGD:6480875 RGD:6483009 |
NCBI chrNW_004936577:3,896,455...4,198,396
Ensembl chrNW_004936577:3,896,390...4,198,411
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G |
Kdm5c |
lysine demethylase 5C |
|
ISO |
mRNA:increased expression:caudate nucleus (human) |
RGD |
PMID:23872847 |
RGD:9587806 |
NCBI chrNW_004936751:159,628...204,136
Ensembl chrNW_004936751:167,920...203,966
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
|
RGD |
PMID:17093074 |
RGD:6483035 |
NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973
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G |
Lep |
leptin |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:19573560 |
RGD:5128676 |
NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334
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G |
LOC101966195 |
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_004936477:20,443,101...20,577,167
Ensembl chrNW_004936477:20,443,113...20,577,071 Ensembl chrNW_004936477:20,443,113...20,577,071
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G |
Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21075085 |
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NCBI chrNW_004936502:9,816,443...9,888,002
Ensembl chrNW_004936502:9,815,319...9,888,026
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Maob |
monoamine oxidase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21075085 |
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NCBI chrNW_004936502:9,907,181...10,014,756
Ensembl chrNW_004936502:9,907,180...10,014,773
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G |
Map2 |
microtubule associated protein 2 |
|
ISO |
|
RGD |
PMID:20092829 |
RGD:6483090 |
NCBI chrNW_004936845:475,406...752,600
Ensembl chrNW_004936845:473,366...545,135
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G |
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_004936560:3,988,696...4,197,953
Ensembl chrNW_004936560:3,989,420...4,197,501
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Mbp |
myelin basic protein |
|
ISO |
protein:decreased expression:brain: |
RGD |
PMID:21906685 |
RGD:7349325 |
NCBI chrNW_004936616:2,082,154...2,159,028
Ensembl chrNW_004936616:2,082,099...2,159,070
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Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:striatum |
RGD |
PMID:21175737 |
RGD:13204827 |
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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Msh2 |
mutS homolog 2 |
onset |
ISO |
|
RGD |
PMID:12554681 |
RGD:10412317 |
NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356
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G |
Mtnr1a |
melatonin receptor 1A |
treatment |
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:21994366 |
RGD:9686058 |
NCBI chrNW_004936554:3,013,106...3,047,171
Ensembl chrNW_004936554:3,013,050...3,047,179
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Napepld |
N-acyl phosphatidylethanolamine phospholipase D |
|
ISO |
|
RGD |
PMID:23659592 |
RGD:10412654 |
NCBI chrNW_004936479:20,259,260...20,293,116
Ensembl chrNW_004936479:20,275,319...20,292,688
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G |
Ncor1 |
nuclear receptor corepressor 1 |
|
ISO |
protein:decreased expression:temporal cortex, neuron, nucleus (human) |
RGD |
PMID:10441327 |
RGD:5688338 |
NCBI chrNW_004936821:382,756...538,254
Ensembl chrNW_004936821:382,383...536,223
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
mRNA:increased expression:striatum |
RGD |
PMID:24008671 |
RGD:10412688 |
NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
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Nfkb1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
|
RGD |
PMID:11211235 |
RGD:10045663 |
NCBI chrNW_004936520:733,760...850,563
Ensembl chrNW_004936520:733,668...829,435
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G |
Ngfr |
nerve growth factor receptor |
|
ISO |
mRNA:increased expression:caudate nucleus |
RGD |
PMID:18093249 |
RGD:10058981 |
NCBI chrNW_004936490:12,038,500...12,057,257
Ensembl chrNW_004936490:12,035,769...12,057,263
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G |
Nog |
noggin |
treatment |
ISO |
|
RGD |
PMID:17885687 |
RGD:10415531 |
NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483
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G |
Npy |
neuropeptide Y |
onset no_association |
ISO |
DNA:SNP: :rs3037354 (human) mRNA:decreased expression:hypothalamus DNA:SNP: :rs16147 (human) |
RGD |
PMID:1710657 PMID:23697793 PMID:24121255 |
RGD:10431606 RGD:10433112 RGD:10433553 |
NCBI chrNW_004936478:1,289,437...1,296,819
Ensembl chrNW_004936478:1,290,505...1,296,874
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Npy2r |
neuropeptide Y receptor Y2 |
onset |
ISO |
DNA:SNP: :rs2234759 (human) |
RGD |
PMID:24121255 |
RGD:10431606 |
NCBI chrNW_004936576:1,932,526...1,939,560
Ensembl chrNW_004936576:1,932,870...1,938,703
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Nrf1 |
nuclear respiratory factor 1 |
onset |
ISO |
mRNA:decreased expression:striatum DNA:SNPs: :rs6949152, rs7781972 (human) |
RGD |
PMID:20529956 PMID:21595933 |
RGD:6770890 RGD:6771173 |
NCBI chrNW_004936579:5,424,049...5,560,355
Ensembl chrNW_004936579:5,423,773...5,561,003
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19857538 |
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NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831
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G |
Optn |
optineurin |
|
ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chrNW_004937104:73,340...113,179
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G |
Parp1 |
poly(ADP-ribose) polymerase 1 |
|
ISO |
protein:increased expression:neuron,astrocyte: |
RGD |
PMID:15668790 |
RGD:10413886 |
NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642
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G |
Pcp4 |
Purkinje cell protein 4 |
|
ISO |
protein:decreased expression:substantium |
RGD |
PMID:9697113 |
RGD:9850159 |
NCBI chrNW_004936500:3,416,840...3,468,893
Ensembl chrNW_004936500:3,416,797...3,469,053
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G |
Pde9a |
phosphodiesterase 9A |
treatment |
ISO |
|
RGD |
PMID:25315303 |
RGD:243048432 |
NCBI chrNW_004936500:1,201,843...1,266,818
Ensembl chrNW_004936500:1,203,437...1,267,095
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G |
Plcb3 |
phospholipase C beta 3 |
|
ISO |
|
RGD |
PMID:22917585 |
RGD:13432582 |
NCBI chrNW_004936599:4,934,123...4,950,564
Ensembl chrNW_004936599:4,934,060...4,950,570
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G |
Polr2a |
RNA polymerase II subunit A |
|
ISO |
|
RGD |
PMID:20089533 |
RGD:10043799 |
NCBI chrNW_004936595:755,585...781,692
Ensembl chrNW_004936595:755,535...781,783
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
onset treatment severity no_association |
ISO |
mRNA:decreased expression:caudate nucleus (human) DNA:snps, haplotypes:multiple (human) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) protein:increased expression:subthalamic nucleus (rat) DNA:missense mutation:cds:pT612M (rs3736265) (human) mRNA:decreased expression:medium spiny neuron (mouse) protein:increased expression:brain (human) DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) DNA:snp:promoter:g.-1437T>C (rs2970870) (human) |
RGD |
PMID:17018277 PMID:19133136 PMID:20736066 PMID:21211002 PMID:21493629 PMID:21595933 PMID:21651979 PMID:21757867 PMID:22589246 PMID:22813864 PMID:24383721 More...
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RGD:10053648 RGD:10053650 RGD:10053656 RGD:10053663 RGD:10395289 RGD:10395290 RGD:10395291 RGD:6484259 RGD:6484269 RGD:6770890 RGD:7242018 |
NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226
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G |
Ppp1r1b |
protein phosphatase 1 regulatory inhibitor subunit 1B |
|
ISO |
|
RGD |
PMID:18502785 |
RGD:13515080 |
NCBI chrNW_004936490:14,822,246...14,831,337
Ensembl chrNW_004936490:14,822,213...14,831,349
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G |
Ppp1r9a |
protein phosphatase 1 regulatory subunit 9A |
|
ISO |
mRNA:decreased expression:caudate nucleus mRNA:decreased expression:striatum(mouse) |
RGD |
PMID:20089533 |
RGD:10043799 |
NCBI chrNW_004936585:4,981,555...5,277,185
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
|
RGD |
PMID:19733666 |
RGD:6483320 |
NCBI chrNW_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540
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G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
|
ISO |
protein:altered localization:nucleus protein:increased phosphorylation, altered localization:nucleus |
RGD |
PMID:21768291 |
RGD:6484534 |
NCBI chrNW_004936518:1,817,051...1,843,376
Ensembl chrNW_004936518:1,804,969...1,843,380
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
|
RGD |
PMID:19464273 |
RGD:10412729 |
NCBI chrNW_004936489:12,118,538...12,913,664
Ensembl chrNW_004936489:12,120,678...13,327,872
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G |
Psmb9 |
proteasome 20S subunit beta 9 |
|
ISO |
|
RGD |
PMID:14684867 |
RGD:6483364 |
NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
|
RGD |
PMID:21362433 |
RGD:5508227 |
NCBI chrNW_004936481:3,821,564...3,828,086
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G |
Qprt |
quinolinate phosphoribosyltransferase |
|
ISO |
|
RGD |
PMID:2527078 |
RGD:13524507 |
NCBI chrNW_004936501:12,743,634...12,763,068
Ensembl chrNW_004936501:12,742,157...12,763,187
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G |
Rcan1 |
regulator of calcineurin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270310 |
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NCBI chrNW_004936500:7,942,099...7,950,256
Ensembl chrNW_004936500:7,942,133...7,950,271
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G |
Setdb1 |
SET domain bifurcated histone lysine methyltransferase 1 |
|
ISO |
protein:increased expression:neocortex, caudate nucleus (human) |
RGD |
PMID:17142323 |
RGD:9590159 |
NCBI chrNW_004936580:1,146,286...1,192,842
Ensembl chrNW_004936580:1,146,277...1,192,842
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G |
Sin3a |
SIN3 transcription regulator family member A |
|
ISO |
protein:altered localization:cytoplasm |
RGD |
PMID:10441327 |
RGD:5688338 |
NCBI chrNW_004936471:34,206,084...34,260,538
Ensembl chrNW_004936471:34,204,524...34,260,564
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G |
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_004936521:10,296,097...10,316,673
Ensembl chrNW_004936521:10,296,097...10,322,215
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G |
Slc18a3 |
solute carrier family 18 member A3 |
|
ISO |
mRNA, protein:decreased expression:striatum mRNA, protein:decreased expression:brain, spinal cord |
RGD |
PMID:16987871 |
RGD:5686805 |
NCBI chrNW_004936728:703,688...706,317
Ensembl chrNW_004936728:704,290...705,885
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G |
Slc1a2 |
solute carrier family 1 member 2 |
|
ISO |
|
RGD |
PMID:9100675 PMID:17409241 |
RGD:13432194 RGD:13432195 |
NCBI chrNW_004936533:2,779,650...2,918,640
Ensembl chrNW_004936533:2,779,518...2,918,298
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G |
Slc29a1 |
solute carrier family 29 member 1 (Augustine blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27567601 |
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NCBI chrNW_004936476:15,849,054...15,862,486
Ensembl chrNW_004936476:15,846,606...15,862,548
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G |
Sod2 |
superoxide dismutase 2 |
susceptibility |
ISO |
|
RGD |
PMID:11161607 |
RGD:13464352 |
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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G |
Srsf6 |
serine and arginine rich splicing factor 6 |
|
ISO |
protein:increased expression:striatum (human) |
RGD |
PMID:25038828 |
RGD:11039484 |
NCBI chrNW_004936530:3,086,944...3,092,780
Ensembl chrNW_004936530:3,086,680...3,092,828
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G |
Syne3 |
spectrin repeat containing nuclear envelope family member 3 |
|
ISO |
up-regulated |
RGD |
PMID:22202438 |
RGD:11073597 |
NCBI chrNW_004936846:791,852...835,791
Ensembl chrNW_004936846:795,486...835,797
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G |
Tbp |
TATA-box binding protein |
severity |
ISO |
protein:increased expression:middle frontal gyrus (human) |
RGD |
PMID:12531510 |
RGD:5684339 |
NCBI chrNW_004937098:46,572...65,304
Ensembl chrNW_004937098:46,248...65,441
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G |
Tfam |
transcription factor A, mitochondrial |
|
ISO |
mRNA:decreased expression:striatum |
RGD |
PMID:20529956 PMID:21595933 |
RGD:6770890 RGD:6771173 |
NCBI chrNW_004936614:4,595,973...4,605,040
Ensembl chrNW_004936614:4,596,617...4,605,104
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
|
RGD |
PMID:12614934 |
RGD:1580169 |
NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241
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G |
Trip10 |
thyroid hormone receptor interactor 10 |
|
ISO |
protein:increased expression:striatum |
RGD |
PMID:12604778 |
RGD:11535137 |
NCBI chrNW_004936588:4,035,370...4,044,751
Ensembl chrNW_004936588:4,037,511...4,044,486
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G |
Ucp1 |
uncoupling protein 1 |
treatment |
ISO |
mRNA, protein:decreased expression:brown adipose tissue (mouse) |
RGD |
PMID:17055784 PMID:20561979 |
RGD:10045649 RGD:10045650 |
NCBI chrNW_004936535:7,258,146...7,265,475
Ensembl chrNW_004936535:7,258,343...7,265,398
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G |
Ucp2 |
uncoupling protein 2 |
|
ISO |
mRNA:decreased expression:peripheral blood (human) |
RGD |
PMID:23029535 |
RGD:10045655 |
NCBI chrNW_004936498:3,059,700...3,066,112
Ensembl chrNW_004936498:3,059,297...3,066,197
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G |
Xpo5 |
exportin 5 |
|
ISO |
mRNA:increased expression:striatum (mouse) |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chrNW_004936476:16,434,629...16,481,044
Ensembl chrNW_004936476:16,434,638...16,481,044
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G |
Zdhhc13 |
zinc finger DHHC-type palmitoyltransferase 13 |
|
ISO |
OMIM:143100 |
MouseDO |
|
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NCBI chrNW_004936654:220,391...267,383
Ensembl chrNW_004936654:220,337...269,094
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G |
Zdhhc17 |
zinc finger DHHC-type palmitoyltransferase 17 |
|
ISO |
OMIM:143100 |
MouseDO |
|
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NCBI chrNW_004936568:4,959,796...5,052,254
Ensembl chrNW_004936568:4,959,790...5,052,245
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G |
Adam33 |
ADAM metallopeptidase domain 33 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,005,329...15,018,063
Ensembl chrNW_004936485:15,007,485...15,017,497
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G |
Adissp |
adipose secreted signaling protein |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:14,930,525...14,942,951
Ensembl chrNW_004936485:14,930,517...14,942,951
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G |
Adra1d |
adrenoceptor alpha 1D |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:14,514,395...14,538,389
Ensembl chrNW_004936485:14,515,494...14,537,631
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G |
Ap5s1 |
adaptor related protein complex 5 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:14,880,338...14,884,383
Ensembl chrNW_004936485:14,877,206...14,884,369
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G |
Bmp2 |
bone morphogenetic protein 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454
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G |
Cdc25b |
cell division cycle 25B |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:14,897,050...14,914,034
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G |
Cds2 |
CDP-diacylglycerol synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:13,684,609...13,754,357
Ensembl chrNW_004936485:13,691,724...13,754,397
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G |
Cenpb |
centromere protein B |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:14,914,644...14,917,265
Ensembl chrNW_004936485:14,914,644...14,916,458
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G |
Chgb |
chromogranin B |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:13,126,152...13,140,340
Ensembl chrNW_004936485:13,126,113...13,140,569
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G |
Cpxm1 |
carboxypeptidase X, M14 family member 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:15,929,888...15,936,647
Ensembl chrNW_004936485:15,929,799...15,936,648
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G |
Crls1 |
cardiolipin synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:13,050,401...13,070,197
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G |
CUNH20orf141 |
chromosome unknown C20orf141 homolog |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:15,919,846...15,920,636
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|
G |
Ddrgk1 |
DDRGK domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:15,516,348...15,526,380
Ensembl chrNW_004936485:15,516,302...15,526,376
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G |
Dnaaf9 |
dynein axonemal assembly factor 9 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:15,330,938...15,476,202
Ensembl chrNW_004936485:15,330,643...15,476,208
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G |
Ebf4 |
EBF family member 4 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:15,951,546...16,013,541
Ensembl chrNW_004936485:15,951,544...16,013,515
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G |
Fastkd5 |
FAST kinase domains 5 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:15,550,388...15,558,886
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|
G |
Fermt1 |
FERM domain containing kindlin 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936485:12,985,552...13,016,997
Ensembl chrNW_004936485:12,985,552...13,016,906
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|
G |
Gfra4 |
GDNF family receptor alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,135,245...15,139,639
Ensembl chrNW_004936485:15,135,245...15,139,000
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G |
Gnrh2p |
gonadotropin releasing hormone 2 pseudogene |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,737,092...15,740,765
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G |
Gpcpd1 |
glycerophosphocholine phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,401,598...13,458,125
Ensembl chrNW_004936485:13,400,995...13,458,146
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G |
Hspa12b |
heat shock protein family A (Hsp70) member 12B |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:14,943,155...14,957,109
Ensembl chrNW_004936485:14,943,155...14,957,109
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G |
Idh3b |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:16,033,287...16,038,097
Ensembl chrNW_004936485:16,033,128...16,042,821
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G |
Itpa |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992
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G |
Lrrn4 |
leucine rich repeat neuronal 4 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,039,430...13,049,359
Ensembl chrNW_004936485:13,039,430...13,047,375
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G |
Lzts3 |
leucine zipper tumor suppressor family member 3 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,538,302...15,547,778
Ensembl chrNW_004936485:15,538,337...15,548,148
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G |
Mavs |
mitochondrial antiviral signaling protein |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:14,842,778...14,859,163
Ensembl chrNW_004936485:14,842,160...14,859,202
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G |
Mcm8 |
minichromosome maintenance 8 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,072,791...13,108,392
Ensembl chrNW_004936485:13,072,600...13,108,411
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G |
Mrps26 |
mitochondrial ribosomal protein S26 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,735,022...15,736,852
Ensembl chrNW_004936485:15,730,698...15,736,916
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G |
Nop56 |
NOP56 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:16,038,090...16,043,408
Ensembl chrNW_004936485:16,038,182...16,043,357
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G |
Pank2 |
pantothenate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:14,785,050...14,804,258
Ensembl chrNW_004936485:14,785,467...14,811,117
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G |
Pced1a |
PC-esterase domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,900,549...15,905,902
Ensembl chrNW_004936485:15,900,308...15,905,904
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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,766,221...13,771,215
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G |
Pdyn |
prodynorphin |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:16,559,371...16,571,461
Ensembl chrNW_004936485:16,559,217...16,571,678
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G |
Prnd |
prion like protein doppel |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:14,079,691...14,081,246
Ensembl chrNW_004936485:14,080,770...14,083,069
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G |
Prnp |
prion protein (Kanno blood group) |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES |
OMIM ClinVar |
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...
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NCBI chrNW_004936485:14,104,829...14,118,614
Ensembl chrNW_004936485:14,104,831...14,118,629
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G |
Prokr2 |
prokineticin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,620,000...13,632,134
Ensembl chrNW_004936485:13,619,835...13,632,881
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G |
Ptpra |
protein tyrosine phosphatase receptor type A |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,745,054...15,872,377
Ensembl chrNW_004936485:15,744,205...15,872,995
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G |
Rassf2 |
Ras association domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,997,688...14,042,712
Ensembl chrNW_004936485:13,997,652...14,042,578
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G |
Rnf24 |
ring finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:14,705,025...14,784,635
Ensembl chrNW_004936485:14,756,582...14,776,952
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G |
Shld1 |
shieldin complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,179,218...13,267,980
Ensembl chrNW_004936485:13,176,426...13,267,953
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G |
Siglec1 |
sialic acid binding Ig like lectin 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:14,979,838...14,999,047
Ensembl chrNW_004936485:14,979,819...14,998,004
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G |
Slc23a2 |
solute carrier family 23 member 2 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,885,067...13,976,623
Ensembl chrNW_004936485:13,885,091...13,976,550
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G |
Slc4a11 |
solute carrier family 4 member 11 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,486,565...15,497,638
Ensembl chrNW_004936485:15,486,372...15,497,673
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G |
Smox |
spermine oxidase |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:14,566,570...14,603,323
Ensembl chrNW_004936485:14,566,277...14,603,338
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G |
Snrpb |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:16,142,231...16,161,761
Ensembl chrNW_004936485:16,157,485...16,163,698
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G |
Spef1 |
sperm flagellar 1 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:14,917,352...14,923,669
Ensembl chrNW_004936485:14,919,913...14,922,995
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G |
Stk35 |
serine/threonine kinase 35 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:16,419,989...16,462,065
Ensembl chrNW_004936485:16,423,198...16,461,578
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G |
Tgm3 |
transglutaminase 3 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:16,259,197...16,325,167
Ensembl chrNW_004936485:16,259,643...16,296,783
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G |
Tgm6 |
transglutaminase 6 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:16,192,808...16,220,267
Ensembl chrNW_004936485:16,192,808...16,220,290
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G |
Tmc2 |
transmembrane channel like 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:16,051,974...16,122,899
Ensembl chrNW_004936485:16,051,974...16,109,978
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G |
Tmem230 |
transmembrane protein 230 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,772,093...13,779,201
Ensembl chrNW_004936485:13,772,106...13,779,201
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G |
Tmem239 |
transmembrane protein 239 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,918,835...15,919,309
Ensembl chrNW_004936485:15,918,743...15,919,470
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G |
Trmt6 |
tRNA methyltransferase 6 non-catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:13,108,450...13,121,276
Ensembl chrNW_004936485:13,108,588...13,119,939
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G |
Ubox5 |
U-box domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,550,401...15,581,644
Ensembl chrNW_004936485:15,550,358...15,581,665
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G |
Vps16 |
VPS16 core subunit of CORVET and HOPS complexes |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936485:15,879,324...15,900,544
Ensembl chrNW_004936485:15,879,327...15,900,544
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G |
Jph3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936641:1,619,640...1,668,480
Ensembl chrNW_004936641:1,620,652...1,668,486
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G |
Cfap47 |
cilia and flagella associated protein 47 |
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ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
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NCBI chrNW_004936502:3,254,001...3,630,408
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G |
Dmd |
dystrophin |
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ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
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NCBI chrNW_004936553:7,157,526...7,943,703
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G |
Dynlt3 |
dynein light chain Tctex-type 3 |
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ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
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NCBI chrNW_004936502:4,690,810...4,701,615
Ensembl chrNW_004936502:4,690,776...4,701,750
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G |
Lancl3 |
LanC like family member 3 |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
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NCBI chrNW_004936502:4,419,279...4,522,025
Ensembl chrNW_004936502:4,419,474...4,520,795
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G |
LOC101966992 |
cytochrome b-245 heavy chain |
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ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
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NCBI chrNW_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904
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G |
Prrg1 |
proline rich and Gla domain 1 |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
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NCBI chrNW_004936502:4,189,283...4,288,089
Ensembl chrNW_004936502:4,189,254...4,291,140
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G |
Tmem47 |
transmembrane protein 47 |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
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NCBI chrNW_004936502:1,990,524...2,018,707
Ensembl chrNW_004936502:1,993,749...2,018,204
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G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
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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...
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NCBI chrNW_004936502:4,532,100...4,584,931
Ensembl chrNW_004936502:4,532,100...4,587,439
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G |
Milr1 |
mast cell immunoglobulin like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31778857 |
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NCBI chrNW_004936541:4,959,838...4,972,543
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G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31778857 |
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NCBI chrNW_004936541:4,988,469...5,004,110
Ensembl chrNW_004936541:4,988,368...5,003,922
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G |
Vps13a |
vacuolar protein sorting 13 homolog A |
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ISO |
ClinVar Annotator: match by term: ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER | ClinVar Annotator: match by term: Acanthocytosis with neurologic disorder |
ClinVar |
PMID:12404112 PMID:21145924 PMID:21598378 PMID:22777538 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chrNW_004936503:12,606,019...12,857,807
Ensembl chrNW_004936503:12,606,014...12,858,005
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G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8619554 PMID:11761473 |
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NCBI chrNW_004936502:4,532,100...4,584,931
Ensembl chrNW_004936502:4,532,100...4,587,439
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G |
Aamp |
angio associated migratory cell protein |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:794,814...799,770
Ensembl chrNW_004936569:790,510...799,896
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G |
Abcb6 |
ATP binding cassette subfamily B member 6 (LAN blood group) |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,628,649...1,635,599
Ensembl chrNW_004936569:1,625,374...1,635,694
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G |
Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,645,780...1,653,526
Ensembl chrNW_004936569:1,650,088...1,653,522
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G |
Arpc2 |
actin related protein 2/3 complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:758,358...786,995
Ensembl chrNW_004936569:758,199...786,760
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G |
Asic4 |
acid sensing ion channel subunit family member 4 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,894,631...1,918,822
Ensembl chrNW_004936569:1,896,395...1,918,847
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Atg9a |
autophagy related 9A |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,635,958...1,645,600
Ensembl chrNW_004936569:1,635,836...1,645,815
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G |
Catip |
ciliogenesis associated TTC17 interacting protein |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:869,695...876,239
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G |
Cdk5r2 |
cyclin dependent kinase 5 regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,381,101...1,383,593
Ensembl chrNW_004936569:1,381,262...1,382,365
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Cfap65 |
cilia and flagella associated protein 65 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,449,654...1,462,582
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Chpf |
chondroitin polymerizing factor |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,918,999...1,923,735
Ensembl chrNW_004936569:1,918,961...1,923,724
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G |
Cnot9 |
CCR4-NOT transcription complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,023,057...1,048,968
Ensembl chrNW_004936569:1,022,979...1,049,136
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G |
Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,587,164...1,592,857
Ensembl chrNW_004936569:1,586,286...1,592,857
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G |
Cryba2 |
crystallin beta A2 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,410,634...1,413,735
Ensembl chrNW_004936569:1,410,450...1,413,888
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G |
Ctdsp1 |
CTD small phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:901,357...905,149
Ensembl chrNW_004936569:900,439...903,622
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G |
Cxcr1 |
C-X-C motif chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:715,129...716,187
Ensembl chrNW_004936569:715,129...716,181
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Des |
desmin |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562
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G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,689,926...1,697,179
Ensembl chrNW_004936569:1,689,507...1,698,954
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G |
Dnpep |
aspartyl aminopeptidase |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,770,958...1,780,224
Ensembl chrNW_004936569:1,770,936...1,780,507
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G |
Fev |
FEV transcription factor, ETS family member |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,402,513...1,408,699
Ensembl chrNW_004936569:1,402,513...1,406,067
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G |
Glb1l |
galactosidase beta 1 like |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,653,482...1,663,978
Ensembl chrNW_004936569:1,648,673...1,663,956
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Gmppa |
GDP-mannose pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,881,975...1,889,179
Ensembl chrNW_004936569:1,881,774...1,889,932
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G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:792,393...794,764
Ensembl chrNW_004936569:793,426...794,421
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Ihh |
Indian hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568
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G |
LOC101961358 |
mitochondrial chaperone BCS1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708
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G |
LOC101963150 |
sterol 26-hydroxylase, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589
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G |
Nhej1 |
non-homologous end joining factor 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,494,783...1,578,587
Ensembl chrNW_004936569:1,495,446...1,578,590
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G |
Obsl1 |
obscurin like cytoskeletal adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,930,189...1,949,735
Ensembl chrNW_004936569:1,929,069...1,949,708
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G |
Plcd4 |
phospholipase C delta 4 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,058,092...1,097,662
Ensembl chrNW_004936569:1,058,611...1,099,577
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G |
Pnkd |
PNKD metallo-beta-lactamase domain containing |
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ISO |
ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis | 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...
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NCBI chrNW_004936569:799,963...865,462
Ensembl chrNW_004936569:799,926...865,700
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G |
Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,258,678...1,266,925
Ensembl chrNW_004936569:1,259,105...1,266,925
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G |
Prrt2 |
proline rich transmembrane protein 2 |
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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 PMID:38778723 More...
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NCBI chrNW_004936501:12,660,181...12,663,788
Ensembl chrNW_004936501:12,659,905...12,663,110
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G |
Ptprn |
protein tyrosine phosphatase receptor type N |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,698,718...1,717,639
Ensembl chrNW_004936569:1,696,059...1,717,744
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Resp18 |
regulated endocrine specific protein 18 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,731,756...1,737,679
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G |
Retreg2 |
reticulophagy regulator family member 2 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,593,091...1,599,745
Ensembl chrNW_004936569:1,593,085...1,599,437
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G |
Rnf25 |
ring finger protein 25 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,109,279...1,115,736
Ensembl chrNW_004936569:1,108,207...1,115,949
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G |
Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977
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G |
Slc23a3 |
solute carrier family 23 member 3 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,578,977...1,585,903
Ensembl chrNW_004936569:1,578,993...1,585,454
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Speg |
striated muscle enriched protein kinase |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,821,125...1,877,006
Ensembl chrNW_004936569:1,821,143...1,876,156
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G |
Stk16 |
serine/threonine kinase 16 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,664,031...1,667,648
Ensembl chrNW_004936569:1,663,634...1,668,521
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G |
Stk36 |
serine/threonine kinase 36 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,115,790...1,143,450
Ensembl chrNW_004936569:1,115,768...1,143,370
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G |
Tmbim1 |
transmembrane BAX inhibitor motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:16199547 PMID:28492532 |
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NCBI chrNW_004936569:803,154...820,000
Ensembl chrNW_004936569:800,760...820,271
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Tmem198 |
transmembrane protein 198 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,923,924...1,930,058
Ensembl chrNW_004936569:1,924,002...1,930,058
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G |
Ttll4 |
tubulin tyrosine ligase like 4 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,153,376...1,201,704
Ensembl chrNW_004936569:1,153,447...1,194,269
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G |
Tuba4a |
tubulin alpha 4a |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,668,265...1,672,532
Ensembl chrNW_004936569:1,668,878...1,672,514
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G |
Usp37 |
ubiquitin specific peptidase 37 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:939,147...1,022,920
Ensembl chrNW_004936569:943,760...1,022,956
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G |
Vil1 |
villin 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:914,511...938,481
Ensembl chrNW_004936569:914,512...938,608
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G |
Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931
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G |
Wnt6 |
Wnt family member 6 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,290,061...1,302,672
Ensembl chrNW_004936569:1,290,052...1,302,691
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G |
Zfand2b |
zinc finger AN1-type containing 2B |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,625,712...1,628,533
Ensembl chrNW_004936569:1,625,374...1,632,642
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G |
Znf142 |
zinc finger protein 142 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936569:1,084,981...1,103,932
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G |
Dlg5 |
discs large MAGUK scaffold protein 5 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936521:1,649,557...1,753,149
Ensembl chrNW_004936521:1,649,575...1,753,073
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
susceptibility |
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 |
OMIM ClinVar |
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:27527004 PMID:27567911 PMID:27697855 PMID:28492532 PMID:29330545 PMID:29356177 PMID:29545233 PMID:29738522 PMID:29778030 PMID:29933521 PMID:31069529 PMID:31152168 PMID:34368859 PMID:36011376 PMID:36952000 More...
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NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365
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G |
LOC101959799 |
potassium voltage-gated channel subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy |
ClinVar |
PMID:25741868 PMID:34305802 |
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NCBI chrNW_004937109:142,711...144,257
Ensembl chrNW_004937109:142,711...144,198
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