|
G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14660671 |
|
NCBI chr 8:116,950,860...117,082,159
|
|
G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Choreatic disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:19,440,611...19,486,659
|
|
G |
Ebf3 |
EBF transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal dyskinesia |
ClinVar |
PMID:32581362 |
|
NCBI chr 1:191,996,726...192,114,593
|
|
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 |
|
NCBI chr 5:71,655,911...71,690,132
|
|
G |
Glrx3 |
glutaredoxin 3 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal dyskinesia |
ClinVar |
PMID:32581362 |
|
NCBI chr 1:192,241,707...192,272,012
|
|
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...
|
|
NCBI chr19:11,040,788...11,198,437
|
|
G |
Kif5a |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:63,051,894...63,089,024
|
|
G |
Mbip |
MAP3K12 binding inhibitory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
|
NCBI chr 6:73,808,133...73,825,394
|
|
G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal dyskinesia |
ClinVar |
PMID:32581362 |
|
NCBI chr 1:201,140,832...201,367,481
|
|
G |
Mipol1 |
mirror-image polydactyly 1 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
|
NCBI chr 6:74,755,293...75,090,403
|
|
G |
Nkx2-1 |
NK2 homeobox 1 |
susceptibility |
ISO |
DNA:transition: ; 745C>T ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM 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 PMID:16220345 More...
|
RGD:1600157 |
NCBI chr 6:73,996,601...74,001,483
|
|
G |
Nkx2-8 |
NK2 homeobox 8 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
|
NCBI chr 6:74,086,274...74,087,977
|
|
G |
Pax9 |
paired box 9 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
|
NCBI chr 6:74,186,749...74,203,508
|
|
G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Choreatic disease |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
|
NCBI chr X:96,767,686...96,873,477
|
|
G |
Pde2a |
phosphodiesterase 2A |
|
ISO |
ClinVar Annotator: match by term: Choreatic disease |
ClinVar |
PMID:25741868 PMID:32467598 |
|
NCBI chr 1:155,823,590...155,915,434
|
|
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...
|
|
NCBI chr13:21,659,092...21,812,932
|
|
G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
associated with Rheumatic Fever;DNA:polymorphisms (human) |
RGD |
PMID:17559688 |
RGD:5147792 |
NCBI chr20:4,575,134...4,579,727
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
associated with Rheumatic Fever;DNA:polymorphism (human) |
RGD |
PMID:17559688 |
RGD:5147792 |
NCBI chr20:4,598,475...4,604,118
|
|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
associated with Rheumatic Fever;DNA:polymorphism (human) |
RGD |
PMID:17559688 |
RGD:5147792 |
NCBI chr20:4,548,664...4,558,237
|
|
G |
Slc25a21 |
solute carrier family 25 member 21 |
|
ISO |
ClinVar Annotator: match by term: Benign hereditary chorea |
ClinVar |
PMID:11971878 |
|
NCBI chr 6:74,203,439...74,702,902
|
|
G |
Vps13a |
vacuolar protein sorting 13 homolog A |
|
ISO |
choreoacanthocytosis, OMIM:200150 |
RGD |
PMID:11381253 |
RGD:1599747 |
NCBI chr 1:223,328,784...223,555,500
|
|
|
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 |
|
NCBI chr 2:116,923,272...116,945,312
|
|
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...
|
|
NCBI chr11:84,612,943...84,690,025
|
|
G |
Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
|
ISO ISS |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM:258501 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 PMID:31119193 PMID:31928268 PMID:32855858 PMID:32883240 More...
|
|
NCBI chr 1:78,879,612...78,910,453
|
|
|
G |
Nkx2-1 |
NK2 homeobox 1 |
|
ISO |
DNA:splice-site mutation:intron:c.464-9C>A (human) DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human) |
RGD |
PMID:22825795 PMID:11971878 PMID:18788921 |
RGD:12914772, RGD:12914773, RGD:11073166 |
NCBI chr 6:73,996,601...74,001,483
|
|
|
G |
Abhd4 |
abhydrolase domain containing 4, N-acyl phospholipase B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,697,384...27,716,013
|
|
G |
Acin1 |
apoptotic chromatin condensation inducer 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,072,121...32,117,004
|
|
G |
Adcy4 |
adenylate cyclase 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,266,280...29,282,153
|
|
G |
Ajuba |
ajuba LIM protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,019,775...28,031,537
|
|
G |
Akap6 |
A-kinase anchoring protein 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,919,350...76,359,667
|
|
G |
Ang |
angiogenin |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,312,711...24,323,361
|
|
G |
Ap1g2 |
adaptor related protein complex 1 subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,571,571...28,579,421
|
|
G |
Ap4s1 |
adaptor related protein complex 4 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,133,403...69,174,488
|
|
G |
Arf6 |
ARF GTPase 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:93,589,777...93,590,925
|
|
G |
Arhgap5 |
Rho GTPase activating protein 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,711,199...75,774,636
|
|
G |
Arhgef40 |
Rho guanine nucleotide exchange factor 40 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,672,645...24,696,510
|
|
G |
Baz1a |
bromodomain adjacent to zinc finger domain, 1A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:78,124,872...78,247,672
|
|
G |
Bcl2l2 |
Bcl2-like 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,346,449...28,361,627
|
|
G |
Brms1l |
BRMS1 like transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:73,266,673...73,300,630
|
|
G |
C15h14orf119 |
similar to human chromosome 14 open reading frame 119 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,116,220...32,121,425
|
|
G |
C15h14orf93 |
similar to human chromosome 14 open reading frame 93 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,037,567...28,064,347
|
|
G |
Carmil3 |
capping protein regulator and myosin 1 linker 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,978,440...28,995,865
|
|
G |
Cbln3 |
cerebellin 3 precursor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,362,014...29,364,523
|
|
G |
Cdh24 |
cadherin 24 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,091,578...28,101,330
|
|
G |
Cebpe |
CCAAT/enhancer binding protein epsilon |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,169,711...28,171,471
|
|
G |
Cfl2 |
cofilin 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:78,090,843...78,094,888
|
|
G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,905,789...24,965,461
|
|
G |
Cideb |
cell death-inducing DFFA-like effector b |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,252,208...29,256,482
|
|
G |
Clec14a |
C-type lectin domain containing 14A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,881,470...75,884,612
|
|
G |
Cma1 |
chymase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:33,387,351...33,390,133
|
|
G |
Cmtm5 |
CKLF-like MARVEL transmembrane domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,412,624...28,415,304
|
|
G |
Coch |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,031,139...69,045,124
|
|
G |
Cpne6 |
copine 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,998,293...29,005,044
|
|
G |
Ctsg |
cathepsin G |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:33,901,230...33,907,596
|
|
G |
Dad1 |
defender against cell death 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,677,286...27,697,120
|
|
G |
Dcaf11 |
DDB1 and CUL4 associated factor 11 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,046,744...29,057,450
|
|
G |
Dhrs1 |
dehydrogenase/reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,236,522...29,243,807
|
|
G |
Dhrs2 |
dehydrogenase/reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,658,855...32,673,591
|
|
G |
Dhrs4 |
dehydrogenase/reductase 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,966,544...28,978,135
|
|
G |
Dnaaf2 |
dynein, axonemal, assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,661,101...87,670,267
|
|
G |
Dorip1 |
dopamine receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:82,965,304...82,973,942
|
|
G |
Dtd2 |
D-aminoacyl-tRNA deacylase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,450,146...69,456,430
|
|
G |
Eapp |
E2F-associated phosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,166,486...72,194,357
|
|
G |
Eddm3b |
epididymal protein 3B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,343,992...24,346,759
|
|
G |
Efs |
embryonal Fyn-associated substrate |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,392,417...28,403,016
|
|
G |
Egln3 |
egl-9 family hypoxia-inducible factor 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:71,650,297...71,675,766
|
|
G |
Emc9 |
ER membrane protein complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:33,041,840...33,046,056
|
|
G |
Fam177a1 |
family with sequence similarity 177, member A1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,632,628...72,647,553
|
|
G |
Fancm |
FA complementation group M |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:88,862,898...88,916,701
|
|
G |
Fbxo33 |
F-box protein 33 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:82,635,509...82,669,441
|
|
G |
Fitm1 |
fat storage-inducing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,064,746...29,066,015
|
|
G |
Fkbp3 |
FKBP prolyl isomerase 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:83,113,885...83,125,500
|
|
G |
Foxa1 |
forkhead box A1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,099,907...75,136,534
|
|
G |
Foxg1 |
forkhead box G1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:66,674,797...66,677,611
|
|
G |
Fscb |
fibrous sheath CABYR binding protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:82,527,849...82,530,641
|
|
G |
G2e3 |
G2/M-phase specific E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:68,763,847...68,795,305
|
|
G |
Gemin2 |
gem (nuclear organelle) associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,706,424...76,721,154
|
|
G |
Gmpr2 |
guanosine monophosphate reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,165,421...29,175,933
|
|
G |
Gpr33-ps1 |
G protein-coupled receptor 33, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,474,435...69,475,440
|
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G |
Gzmb |
granzyme B |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:30,343,352...30,346,814
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G |
Gzmf |
granzyme F |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:30,005,361...30,018,649
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G |
Haus4 |
HAUS augmin-like complex, subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,994,530...28,006,147
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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 |
|
NCBI chr 6:69,321,869...69,419,861
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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 |
|
NCBI chr 6:69,181,429...69,268,045
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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 |
|
NCBI chr15:24,779,593...24,809,213
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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 |
|
NCBI chr15:28,321,633...28,339,486
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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 |
|
NCBI chr15:28,408,766...28,412,157
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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 |
|
NCBI chr 6:72,973,861...72,976,453
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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 chr15:33,087,321...33,097,241
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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 |
|
NCBI chr15:29,095,474...29,101,924
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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 |
|
NCBI chr15:28,579,579...28,588,903
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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 |
|
NCBI chr15:29,365,399...29,379,650
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G |
Klhdc1 |
kelch domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,670,182...87,765,431
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G |
Klhdc2 |
kelch domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,777,183...87,791,609
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G |
Klhl28 |
kelch-like family member 28 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:88,723,624...88,755,072
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:93,900,427...93,941,534
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G |
LOC103693823 |
epididymal secretory protein E3-beta-like |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:26,859,514...26,860,154
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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 chr 6:79,466,403...79,822,821
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G |
Lrp10 |
LDL receptor related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:31,891,358...31,897,530
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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 chr 6:87,643,195...87,651,894
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G |
Ltb4r |
leukotriene B4 receptor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,263,199...29,265,716
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G |
Ltb4r2 |
leukotriene B4 receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,258,712...29,260,531
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G |
Mbip |
MAP3K12 binding inhibitory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:73,808,133...73,825,394
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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 |
|
NCBI chr 6:84,746,422...85,608,640
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G |
Mdp1 |
magnesium-dependent phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,148,994...29,151,868
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G |
Mettl17 |
methyltransferase like 17 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,582,296...24,589,029
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G |
Mettl3 |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,476,659...27,491,134
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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 |
|
NCBI chr 6:87,656,360...87,658,849
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G |
Mia2 |
MIA SH3 domain ER export factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,787,508...76,885,246
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G |
Mipol1 |
mirror-image polydactyly 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:74,755,293...75,090,403
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G |
Mir208a |
microRNA 208a |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,425,570...28,425,652
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G |
Mir208b |
microRNA 208b |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,451,638...28,451,749
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G |
Mis18bp1 |
MIS18 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:83,182,497...83,231,978
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|
G |
Mmp14 |
matrix metallopeptidase 14 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,887,795...27,897,020
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|
G |
Mrpl52 |
mitochondrial ribosomal protein L52 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,882,777...27,886,131
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|
G |
Myh6 |
myosin heavy chain 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,388,102...32,413,663
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|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,416,525...32,439,851
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G |
Ndrg2 |
NDRG family member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,600,981...24,609,621
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G |
Nedd8 |
NEDD8 ubiquitin like modifier |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:33,123,505...33,135,522
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|
G |
Nemf |
nuclear export mediator factor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:93,527,690...93,571,863
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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 |
|
NCBI chr15:33,256,912...33,284,522
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|
G |
Nfkbia |
NFKB inhibitor alpha |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:78,593,844...78,597,307
|
|
G |
Ngdn |
neuroguidin |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,489,950...28,497,286
|
|
G |
Nkx2-1 |
NK2 homeobox 1 |
|
ISO |
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:missense mutation exon:p.L224R (c.671T>G) (human) ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
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 PMID:23911641 PMID:23379327 PMID:18788921 PMID:26839702 More...
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RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 |
NCBI chr 6:73,996,601...74,001,483
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G |
Nkx2-8 |
NK2 homeobox 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:74,086,274...74,087,977
|
|
G |
Nop9 |
NOP9 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,243,853...29,252,220
|
|
G |
Nova1 |
NOVA alternative splicing regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,506,983...69,632,437
|
|
G |
Npas3 |
neuronal PAS domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,438,064...77,263,185
|
|
G |
Nrl |
neural retina leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,007,059...29,011,480
|
|
G |
Nubpl |
NUBP iron-sulfur cluster assembly factor like |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,559,278...69,781,254
|
|
G |
Nynrin |
NYN domain and retroviral integrase containing |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,332,873...29,355,215
|
|
G |
Or10g1b |
olfactory receptor family 10 subfamily G member 1B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:25,127,833...25,128,789
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|
G |
Or10g3 |
olfactory receptor family 10 subfamily G member 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:25,098,674...25,099,615
|
|
G |
Or4e2 |
olfactory receptor family 4 subfamily E member 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:25,187,633...25,188,559
|
|
G |
Or5au1 |
olfactory receptor family 5 subfamily AU member 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,736,872...24,742,314
|
|
G |
Oxa1l |
OXA1L, mitochondrial inner membrane protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,813,688...27,821,319
|
|
G |
Pabpn1 |
poly(A) binding protein, nuclear 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,337,955...32,342,700
|
|
G |
Pax9 |
paired box 9 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:74,186,749...74,203,508
|
|
G |
Pck2 |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,997,853...33,006,691
|
|
G |
Pnn |
pinin, desmosome associated protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,758,138...76,766,451
|
|
G |
Pole2 |
DNA polymerase epsilon 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:93,410,713...93,448,782
|
|
G |
Ppp1r3e |
protein phosphatase 1, regulatory subunit 3E |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,318,435...32,319,595
|
|
G |
Ppp2r3c |
protein phosphatase 2, regulatory subunit B'', gamma |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,647,025...72,670,885
|
|
G |
Prkd1 |
protein kinase D1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:73,460,640...73,774,433
|
|
G |
Prmt5 |
protein arginine methyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:31,938,927...31,948,318
|
|
G |
Prorp |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,669,659...72,762,419
|
|
G |
Prpf39 |
pre-mRNA processing factor 39 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:83,088,981...83,113,826
|
|
G |
Psma6 |
proteasome 20S subunit alpha 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:78,500,676...78,531,693
|
|
G |
Psmb11 |
proteasome subunit beta 11 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,084,736...28,085,655
|
|
G |
Psmb5 |
proteasome 20S subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,042,784...32,047,379
|
|
G |
Psme1 |
proteasome activator subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,069,012...29,071,888
|
|
G |
Psme2 |
proteasome activator subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,078,495...29,082,794
|
|
G |
Rab2b |
RAB2B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,968,364...24,988,990
|
|
G |
Rabggta |
Rab geranylgeranyltransferase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,206,328...29,213,398
|
|
G |
Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,977,432...73,252,378
|
|
G |
Rec8 |
REC8 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,109,862...29,117,327
|
|
G |
Rem2 |
RRAD and GEM like GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,933,950...27,938,429
|
|
G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:33,253,071...33,262,025
|
|
G |
Rn7sl1 |
RNA component of signal recognition particle 7SL1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,636,808...87,637,106
|
|
G |
Rnase1 |
ribonuclease A family member 1, pancreatic |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,361,924...24,363,633
|
|
G |
Rnase13 |
ribonuclease A family member 13 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,618,209...24,618,670
|
|
G |
Rnase2 |
ribonuclease A family member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,449,618...24,450,427
|
|
G |
Rnase3 |
ribonuclease A family member 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,511,894...24,512,764
|
|
G |
Rnase4 |
ribonuclease A family member 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:26,786,287...26,803,634
|
|
G |
Rnase6 |
ribonuclease A family member 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:26,827,896...26,830,807
|
|
G |
Rnf212b |
ring finger protein 212B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,274,629...28,321,093
|
|
G |
Rnf31 |
ring finger protein 31 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,083,047...29,095,328
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,282,997...27,341,021
|
|
G |
Rpl10l |
ribosomal protein L10 like |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:84,544,771...84,545,791
|
|
G |
Rpl36al1 |
ribosomal protein L36A like 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,654,808...87,656,202
|
|
G |
Rps29 |
ribosomal protein S29 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,635,229...87,636,627
|
|
G |
Sall2 |
spalt-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:25,021,345...25,038,918
|
|
G |
Scfd1 |
sec1 family domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:68,795,810...68,874,076
|
|
G |
Sdr39u1 |
short chain dehydrogenase/reductase family 39U, member 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,378,156...29,380,989
|
|
G |
Sec23a |
Sec23 homolog A, COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,658,793...76,706,125
|
|
G |
Slc22a17 |
solute carrier family 22, member 17 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,352,273...32,358,780
|
|
G |
Slc25a21 |
solute carrier family 25 member 21 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:74,203,439...74,702,902
|
|
G |
Slc39a2 |
solute carrier family 39 member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,590,738...24,592,850
|
|
G |
Slc7a7 |
solute carrier family 7 member 7 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,822,088...27,873,121
|
|
G |
Slc7a8 |
solute carrier family 7 member 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,183,013...28,242,717
|
|
G |
Snx6 |
sorting nexin 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,230,950...72,274,157
|
|
G |
Sos2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:93,778,971...93,892,161
|
|
G |
Sptssa |
serine palmitoyltransferase, small subunit A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,144,714...72,156,130
|
|
G |
Srp54a |
signal recognition particle 54A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,587,584...72,626,878
|
|
G |
Sstr1 |
somatostatin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,832,292...75,836,806
|
|
G |
Strn3 |
striatin 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,047,776...69,134,102
|
|
G |
Stxbp6 |
syntaxin binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:61,920,756...62,157,405
|
|
G |
Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,867,697...24,904,818
|
|
G |
Tgm1 |
transglutaminase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,191,039...29,206,000
|
|
G |
Thtpa |
thiamine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,567,619...28,571,580
|
|
G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,170,663...29,178,015
|
|
G |
Tm9sf1 |
transmembrane 9 superfamily member 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,127,585...29,135,334
|
|
G |
Tmem253 |
transmembrane protein 253 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,706,517...24,709,107
|
|
G |
Togaram1 |
TOG array regulator of axonemal microtubules 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:88,755,264...88,819,599
|
|
G |
Tox4 |
TOX high mobility group box family member 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,989,246...25,002,833
|
|
G |
Tppp2 |
tubulin polymerization-promoting protein family member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,614,284...24,627,123
|
|
G |
Trappc6b |
trafficking protein particle complex subunit 6B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,740,898...76,752,035
|
|
G |
Tssk4 |
testis-specific serine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:33,108,248...33,114,083
|
|
G |
Ttc6 |
tetratricopeptide repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:80,872,055...81,103,170
|
|
G |
Vcpkmt |
valosin containing protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:93,772,558...93,778,400
|
|
G |
Zfhx2 |
zinc finger homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,533,155...28,565,667
|
|
G |
Zfp219 |
zinc finger protein 219 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,695,831...24,710,039
|
|
|
G |
Gpr88 |
G-protein coupled receptor 88 |
|
ISO |
ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation | ClinVar Annotator: match by term: GPR88-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27123486 PMID:28492532 |
|
NCBI chr 2:204,191,443...204,199,576
|
|
|
G |
Gna14 |
G protein subunit alpha 14 |
|
ISO |
ClinVar Annotator: match by term: Chorea-acanthocytosis |
ClinVar |
PMID:15918062 |
|
NCBI chr 1:213,714,993...213,900,083
|
|
G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
|
ISO |
ClinVar Annotator: match by term: Chorea-acanthocytosis |
ClinVar |
PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 PMID:25525159 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:210,556,270...210,568,021
|
|
G |
Vps13a |
vacuolar protein sorting 13 homolog A |
|
ISO ISS |
ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition OMIM:200150 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 PMID:15824261 PMID:15918062 PMID:16199547 PMID:17516458 PMID:17576681 PMID:17998451 PMID:21145924 PMID:21598378 PMID:22038564 PMID:22777538 PMID:24033266 PMID:24974674 PMID:25733999 PMID:25741868 PMID:26467025 PMID:26870756 PMID:27400454 PMID:28492532 PMID:31192303 PMID:32131761 More...
|
|
NCBI chr 1:223,328,784...223,555,500
|
|
|
G |
Abat |
4-aminobutyrate aminotransferase |
treatment |
IMP ISO |
|
RGD |
PMID:152600 PMID:6237280 |
RGD:10047058, RGD:10046047 |
NCBI chr10:7,503,351...7,599,474
|
|
G |
Ache |
acetylcholinesterase |
|
ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:2953866 |
RGD:5688127 |
NCBI chr12:25,042,882...25,050,608
|
|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:19124532 |
RGD:5686822 |
NCBI chr11:91,226,524...91,240,244
|
|
G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
protein:decreased expression:putamen: |
RGD |
PMID:8666063 |
RGD:10047397 |
NCBI chr17:34,383,397...34,435,523
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12930891 |
|
NCBI chr X:132,528,107...132,567,237
|
|
G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:21297956 |
RGD:5147768 |
NCBI chr 8:55,435,779...55,438,160
|
|
G |
Atf2 |
activating transcription factor 2 |
|
ISO |
|
RGD |
PMID:15878807 |
RGD:10047400 |
NCBI chr 3:79,125,814...79,202,896
|
|
G |
Atf5 |
activating transcription factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28861715 |
|
NCBI chr 1:104,432,094...104,437,611
|
|
G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
|
RGD |
PMID:22240898 |
RGD:11040584 |
NCBI chr X:70,850,981...70,997,330
|
|
G |
Bag1 |
BAG cochaperone 1 |
treatment |
ISO |
|
RGD |
PMID:18400759 |
RGD:13506921 |
NCBI chr 5:60,864,476...60,877,059
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:11299004 PMID:18938217 |
RGD:10054041, RGD:10054048 |
NCBI chr 1:105,076,472...105,081,906
|
|
G |
Bche |
butyrylcholinesterase |
|
ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:2953866 |
RGD:5688127 |
NCBI chr 2:160,607,289...160,699,760
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP |
|
RGD |
PMID:11299004 |
RGD:10054041 |
NCBI chr13:23,204,464...23,366,900
|
|
G |
Bdnf |
brain-derived neurotrophic factor |
treatment |
ISO |
mRNA, protein:decreased expression:cerebral cortex |
RGD |
PMID:18093249 PMID:17885687 PMID:19499586 |
RGD:10058981, RGD:10415531, RGD:10059353 |
NCBI chr 3:116,619,633...116,670,212
|
|
G |
Casp3 |
caspase 3 |
treatment |
ISO |
|
RGD |
PMID:10888929 PMID:15668790 |
RGD:13432082, RGD:10413886 |
NCBI chr16:52,395,539...52,413,794
|
|
G |
Casp8 |
caspase 8 |
|
ISO |
protein:altered localization:cerebellum: |
RGD |
PMID:10197541 |
RGD:734695 |
NCBI chr 9:67,747,109...67,806,699
|
|
G |
Casp9 |
caspase 9 |
severity |
ISO |
protein:increased expression:caudate nucleus: protein:increased expression:striatum: |
RGD |
PMID:12095160 PMID:12095160 |
RGD:13432083, RGD:13432083 |
|
|
G |
Cat |
catalase |
|
IEP |
protein:decreased expression:brain |
RGD |
PMID:19445928 |
RGD:5130752 |
NCBI chr 3:110,297,340...110,329,526
|
|
G |
Cebpa |
CCAAT/enhancer binding protein alpha |
treatment |
ISO |
protein:altered localization:liver (mouse) |
RGD |
PMID:21651979 PMID:17213233 |
RGD:6484269, RGD:10401191 |
NCBI chr 1:87,759,631...87,762,303
|
|
G |
Cebpb |
CCAAT/enhancer binding protein beta |
|
ISO |
protein:increased expression:brain (mouse) |
RGD |
PMID:14749423 |
RGD:10401227 |
NCBI chr 3:176,817,005...176,818,436
|
|
G |
Chat |
choline O-acetyltransferase |
|
ISO |
mRNA:decreased expression:cerebral cortex |
RGD |
PMID:16987871 |
RGD:5686805 |
NCBI chr16:7,657,362...7,717,093
|
|
G |
Cib1 |
calcium and integrin binding 1 |
|
ISO |
mRNA:increased expression:head of caudate nucleus (mouse) |
RGD |
PMID:24324398 |
RGD:10401859 |
NCBI chr 1:143,587,591...143,593,153
|
|
G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929960 |
|
NCBI chr 5:53,204,867...53,230,396
|
|
G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO IDA |
|
RGD |
PMID:19115380 PMID:19115380 |
RGD:2316196, RGD:2316196 |
NCBI chr 5:153,408,968...153,435,092
|
|
G |
Cntf |
ciliary neurotrophic factor |
treatment |
IDA ISO |
human gene in a cynomolgus monkey model |
RGD |
PMID:12040055 PMID:9121555 |
RGD:628474, RGD:734795 |
NCBI chr 1:209,887,854...209,889,877
|
|
G |
Creb1 |
cAMP responsive element binding protein 1 |
|
ISO IEP |
protein:decreased phosphorylation:neuron: |
RGD |
PMID:11967539 PMID:16420411 |
RGD:734817, RGD:10059577 |
NCBI chr 9:73,397,333...73,466,339
|
|
G |
Crebbp |
CREB binding protein |
treatment disease_progression |
ISO |
protein:altered localization:nucleus |
RGD |
PMID:19291221 PMID:20448484 PMID:11264541 |
RGD:10059583, RGD:13432094, RGD:13432093 |
NCBI chr10:11,842,307...11,968,266
|
|
G |
Ctsh |
cathepsin H |
|
ISO |
protein:increased expression:caudate nucleus |
RGD |
PMID:7561949 |
RGD:5686393 |
NCBI chr 8:99,488,756...99,507,639
|
|
G |
Cycs |
cytochrome c, somatic |
severity |
ISO |
protein:altered localization:cytosol |
RGD |
PMID:12095160 |
RGD:13432083 |
NCBI chr 4:80,982,667...80,984,767
|
|
G |
Diablo |
diablo, IAP-binding mitochondrial protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12930891 |
|
NCBI chr12:38,716,668...38,731,285
|
|
G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
ISO |
protein:decreased expression:cerebral cortex, synapse protein:decreased expression:prefrontal cortex |
RGD |
PMID:25568121 PMID:24728190 |
RGD:13432154, RGD:13432155 |
NCBI chr10:55,239,397...55,267,780
|
|
G |
Dnah6 |
dynein, axonemal, heavy chain 6 |
treatment |
ISO |
|
RGD |
PMID:24282028 |
RGD:13432158 |
NCBI chr 4:105,064,123...105,284,361
|
|
G |
Drd1 |
dopamine receptor D1 |
|
IEP ISO |
protein:decreased expression:cerebral cortex (mouse) |
RGD |
PMID:18815258 PMID:16905556 PMID:12111832 |
RGD:2302117, RGD:7248682, RGD:5686414 |
NCBI chr17:10,545,488...10,550,029
|
|
G |
Drd2 |
dopamine receptor D2 |
|
ISO |
protein:decreased expression:cerebral cortex (mouse) |
RGD |
PMID:12111832 PMID:16905556 |
RGD:5686414, RGD:7248682 |
NCBI chr 8:58,605,403...58,669,339
|
|
G |
Drd3 |
dopamine receptor D3 |
|
ISO |
|
RGD |
PMID:12111832 |
RGD:5686414 |
NCBI chr11:70,385,586...70,437,793
|
|
G |
Drd5 |
dopamine receptor D5 |
|
ISO |
|
RGD |
PMID:12111832 |
RGD:5686414 |
NCBI chr14:72,487,950...72,491,050
|
|
G |
Dusp1 |
dual specificity phosphatase 1 |
treatment |
IMP |
|
RGD |
PMID:23392662 |
RGD:7771544 |
NCBI chr10:17,184,853...17,187,646
|
|
G |
Dynlt1 |
dynein light chain Tctex-type 1 |
treatment |
ISO |
|
RGD |
PMID:24282028 |
RGD:13432158 |
NCBI chr 1:49,292,093...49,299,051
|
|
G |
E2f1 |
E2F transcription factor 1 |
|
IEP |
protein:increased expression:brain |
RGD |
PMID:18768156 |
RGD:2316262 |
NCBI chr 3:163,524,739...163,535,563
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
|
RGD |
PMID:12890790 |
RGD:10047165 |
NCBI chr14:95,378,626...95,551,358
|
|
G |
Egr1 |
early growth response 1 |
|
ISO |
|
RGD |
PMID:12191502 |
RGD:10395281 |
NCBI chr18:26,737,078...26,740,877
|
|
G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
ISO |
|
RGD |
PMID:11468270 PMID:15567511 |
RGD:10395345, RGD:10395348 |
NCBI chr 6:21,941,147...21,977,115
|
|
G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
|
RGD |
PMID:20126313 |
RGD:7488914 |
NCBI chr X:3,692,367...3,709,252
|
|
G |
Ep300 |
E1A binding protein p300 |
|
ISO |
|
RGD |
PMID:12586550 |
RGD:13432192 |
NCBI chr 7:114,987,857...115,058,652
|
|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:21297956 |
RGD:5147768 |
NCBI chr 3:98,051,958...98,065,246
|
|
G |
Faah |
fatty acid amide hydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929960 |
|
NCBI chr 5:134,716,545...134,735,396
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:decreased expression:putamen,caudate: |
RGD |
PMID:11054182 |
RGD:12903948 |
NCBI chr 1:241,212,155...241,245,774
|
|
G |
Faslg |
Fas ligand |
|
ISO |
protein:decreased expression:putamen,caudate: |
RGD |
PMID:11054182 |
RGD:12903948 |
NCBI chr13:76,680,885...76,706,042
|
|
G |
Foxp1 |
forkhead box P1 |
|
ISO |
mRNA:decreased expression:striatum (mouse) mRNA:decreased expression:caudate nucleus (human) |
RGD |
PMID:16405510 PMID:16405510 |
RGD:11560524, RGD:11560524 |
NCBI chr 4:133,117,346...133,808,647
|
|
G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
|
RGD |
PMID:26268247 |
RGD:13792684 |
NCBI chr 4:157,962,312...157,967,158
|
|
G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16943855 |
|
NCBI chr 2:58,621,327...58,647,242
|
|
G |
Git1 |
GIT ArfGAP 1 |
|
ISO |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:15383276 |
RGD:1549448 |
NCBI chr10:62,342,082...62,356,379
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
|
RGD |
PMID:10873295 |
RGD:7207854 |
NCBI chr20:36,302,490...36,315,010
|
|
G |
Glul |
glutamate-ammonia ligase |
|
ISO |
|
RGD |
PMID:6237280 PMID:3159462 |
RGD:10046047, RGD:13524508 |
NCBI chr13:68,519,500...68,585,554
|
|
G |
Gpx1 |
glutathione peroxidase 1 |
|
ISO |
|
RGD |
PMID:18588971 |
RGD:13432193 |
NCBI chr 8:117,905,462...117,906,588
|
|
G |
Gpx6 |
glutathione peroxidase 6 |
|
ISO |
|
RGD |
PMID:18588971 |
RGD:13432193 |
NCBI chr17:43,408,472...43,416,091
|
|
G |
Grik2 |
glutamate ionotropic receptor kainate type subunit 2 |
onset |
ISO |
DNA:repeat: (human) |
RGD |
PMID:10522893 |
RGD:1358638 |
NCBI chr20:53,717,564...54,415,283
|
|
G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
onset |
ISO |
DNA:SNPs: :rs1969060 (human) DNA:SNPs: :rs8057394, rs2650427 (human) |
RGD |
PMID:17409241 PMID:15742215 PMID:17569088 |
RGD:13432195, RGD:13432556, RGD:13432554 |
NCBI chr10:6,136,458...6,560,003
|
|
G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
onset |
ISO |
DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) DNA:SNP: :2664C>T (rs1806201) (human) |
RGD |
PMID:17409241 PMID:15742215 PMID:17569088 |
RGD:13432195, RGD:13432556, RGD:13432554 |
NCBI chr 4:170,297,811...170,775,420
|
|
G |
Grm5 |
glutamate metabotropic receptor 5 |
treatment disease_progression |
ISO |
|
RGD |
PMID:23489026 PMID:15306259 PMID:25160573 PMID:24282028 |
RGD:13432558, RGD:13432562, RGD:13432561, RGD:13432158 |
NCBI chr 1:141,310,069...141,884,980
|
|
G |
Gsr |
glutathione-disulfide reductase |
treatment |
IEP |
|
RGD |
PMID:11490092 |
RGD:10401927 |
NCBI chr16:65,185,574...65,228,742
|
|
G |
Haao |
3-hydroxyanthranilate 3,4-dioxygenase |
|
IDA |
|
RGD |
PMID:2527078 |
RGD:13524507 |
NCBI chr 6:16,598,325...16,617,590
|
|
G |
Hap1 |
huntingtin-associated protein 1 |
onset no_association |
ISO |
DNA:SNP: :p.T441M (human) DNA:SNP: :rs4523977 (human) DNA:SNP:multiple |
RGD |
PMID:18192679 PMID:24324398 PMID:26000918 PMID:20512606 PMID:22402331 PMID:22698993 PMID:18192679 More...
|
RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 |
NCBI chr10:85,778,267...85,786,553
|
|
G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex |
RGD |
PMID:22918830 PMID:22965876 |
RGD:9590098, RGD:10402189 |
NCBI chr 5:147,138,328...147,165,387
|
|
G |
Hdac3 |
histone deacetylase 3 |
|
ISO |
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex |
RGD |
PMID:22918830 PMID:22965876 |
RGD:9590098, RGD:10402189 |
NCBI chr18:29,770,637...29,789,850
|
|
G |
Hdac7 |
histone deacetylase 7 |
|
ISO |
protein:decreased expression:brain: |
RGD |
PMID:21118817 |
RGD:9681718 |
NCBI chr 7:128,923,918...128,961,926
|
|
G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:17702587 |
RGD:5508462 |
NCBI chr 2:29,732,163...29,754,276
|
|
G |
Hnmt |
histamine N-methyltransferase |
|
ISO |
|
RGD |
PMID:21106039 |
RGD:5509774 |
NCBI chr 3:6,591,804...6,623,821
|
|
G |
Hpca |
hippocalcin |
|
ISO |
mRNA:decreased expression:brain (human) |
RGD |
PMID:19686238 |
RGD:9693681 |
NCBI chr 5:141,455,616...141,466,252
|
|
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:10402387, RGD:10402386 |
NCBI chr 7:110,076,710...110,103,665
|
|
G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
protein: increased expression |
RGD |
PMID:22171050 |
RGD:5688778 |
NCBI chr 8:50,080,514...50,084,376
|
|
G |
Htra2 |
HtrA serine peptidase 2 |
|
ISO |
protein:increased expression:striatal neuron (mouse) |
RGD |
PMID:18662332 |
RGD:5688723 |
NCBI chr 4:117,114,631...117,117,793
|
|
G |
Htt |
huntingtin |
onset treatment |
ISO ISS IMP |
ClinVar Annotator: match by term: HTT-related condition | ClinVar Annotator: match by term: Huntington disease OMIM:143100 CTD Direct Evidence: marker/mechanism DNA:repeats:cds:CAG (human) mRNA:altered expression:cortex, striatum: |
ClinVar MouseDO CTD OMIM RGD |
PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 PMID:18831068 PMID:19094060 PMID:19476553 PMID:20929960 PMID:21867705 PMID:25741868 PMID:26740508 PMID:28111121 PMID:28492532 PMID:8898202 PMID:12620967 PMID:21163446 PMID:26938440 PMID:8242074 PMID:17940007 PMID:25062733 PMID:22731249 More...
|
RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 |
NCBI chr14:75,845,836...75,996,094
|
|
G |
Ift57 |
intraflagellar transport 57 |
|
ISO |
protein:altered localization:cilia |
RGD |
PMID:25989602 |
RGD:13432581 |
NCBI chr11:64,528,349...64,593,545
|
|
G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
protein:altered localization:cilia |
RGD |
PMID:25989602 |
RGD:13432581 |
NCBI chr15:31,573,325...31,666,068
|
|
G |
Igf1 |
insulin-like growth factor 1 |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:23384443 PMID:15371744 PMID:25140802 |
RGD:10045865, RGD:12904970, RGD:10045870 |
NCBI chr 7:24,169,608...24,249,446
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
|
RGD |
PMID:25140802 |
RGD:10045870 |
NCBI chr 1:130,959,787...131,248,664
|
|
G |
Il6 |
interleukin 6 |
treatment |
ISO |
|
RGD |
PMID:11860469 |
RGD:10402809 |
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Il6r |
interleukin 6 receptor |
treatment |
ISO |
|
RGD |
PMID:11860469 |
RGD:10402809 |
NCBI chr 2:177,582,020...177,646,705
|
|
G |
Ip6k2 |
inositol hexakisphosphate kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21652713 |
|
NCBI chr 8:118,362,154...118,388,668
|
|
G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
ISO IEP |
protein:decreased activity:cerebellum, striatum (mouse) protein:decreased expression:neostriatum (rat) |
RGD |
PMID:21145001 PMID:9761455 PMID:19193873 |
RGD:6480685, RGD:6483009, RGD:6480875 |
NCBI chr 4:142,743,401...143,066,505
|
|
G |
Kdm5c |
lysine demethylase 5C |
|
ISO |
mRNA:increased expression:caudate nucleus (human) |
RGD |
PMID:23872847 |
RGD:9587806 |
NCBI chr X:21,345,459...21,387,045
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
|
RGD |
PMID:17093074 |
RGD:6483035 |
NCBI chr X:151,597,270...151,623,776
|
|
G |
Lep |
leptin |
|
IEP |
protein:decreased expression:serum |
RGD |
PMID:19573560 |
RGD:5128676 |
NCBI chr 4:58,626,529...58,640,663
|
|
G |
Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21075085 |
|
NCBI chr X:8,615,239...8,681,372
|
|
G |
Maob |
monoamine oxidase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21075085 |
|
NCBI chr X:8,490,405...8,594,065
|
|
G |
Map2 |
microtubule-associated protein 2 |
|
ISO |
|
RGD |
PMID:20092829 |
RGD:6483090 |
NCBI chr 9:75,173,038...75,431,606
|
|
G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
onset treatment |
ISO |
protein:increased expression:cortex,striatum,nucleus: DNa:SNO:promoter:rs5880308(human) |
RGD |
PMID:19646509 PMID:18327563 PMID:19646509 |
RGD:10412311, RGD:10412314, RGD:10412311 |
NCBI chr 1:16,505,387...16,723,899
|
|
G |
Mbp |
myelin basic protein |
|
IEP |
protein:decreased expression:brain: |
RGD |
PMID:21906685 |
RGD:7349325 |
NCBI chr18:75,855,878...75,966,404
|
|
G |
Meg3 |
maternally expressed 3 |
|
ISO |
up-regulated |
RGD |
PMID:22202438 |
RGD:11073597 |
NCBI chr 6:128,491,808...128,524,010
|
|
G |
Mir132 |
microRNA 132 |
|
ISO |
down-regulated |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr10:60,522,033...60,522,133
|
|
G |
Mir22 |
microRNA 22 |
|
ISO |
down-regulated |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr10:60,307,039...60,307,133
|
|
G |
Mir222 |
microRNA 222 |
|
ISO |
down-regulated |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr X:6,022,621...6,022,723
|
|
G |
Mir448 |
microRNA 448 |
|
ISO |
up-regulated |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr X:110,829,918...110,830,029
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
IEP |
protein:increased expression:striatum |
RGD |
PMID:21175737 |
RGD:13204827 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Msh2 |
mutS homolog 2 |
onset |
ISO |
|
RGD |
PMID:12554681 |
RGD:10412317 |
NCBI chr 6:12,567,368...12,626,534
|
|
G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
severity |
ISO |
|
RGD |
PMID:20660112 |
RGD:13506651 |
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
IMP |
|
RGD |
PMID:20480544 |
RGD:5687693 |
NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
|
|
G |
Mtnr1a |
melatonin receptor 1A |
treatment |
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:21994366 PMID:21994366 |
RGD:9686058, RGD:9686058 |
NCBI chr16:47,144,461...47,163,919
|
|
G |
Napepld |
N-acyl phosphatidylethanolamine phospholipase D |
|
ISO |
|
RGD |
PMID:23659592 |
RGD:10412654 |
NCBI chr 4:13,360,532...13,398,815
|
|
G |
Ncor1 |
nuclear receptor co-repressor 1 |
|
ISO |
protein:decreased expression:temporal cortex, neuron, nucleus (human) |
RGD |
PMID:10441327 |
RGD:5688338 |
NCBI chr10:47,498,852...47,641,612
|
|
G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
IEP |
mRNA:increased expression:striatum |
RGD |
PMID:24008671 |
RGD:10412688 |
NCBI chr 3:81,001,529...81,031,165
|
|
G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
|
RGD |
PMID:11211235 |
RGD:10045663 |
NCBI chr 2:226,689,745...226,805,897
|
|
G |
Ngfr |
nerve growth factor receptor |
|
ISO |
mRNA:increased expression:caudate nucleus |
RGD |
PMID:18093249 |
RGD:10058981 |
NCBI chr10:81,012,077...81,030,305
|
|
G |
Nog |
noggin |
treatment |
ISO |
|
RGD |
PMID:17885687 |
RGD:10415531 |
NCBI chr10:74,625,874...74,627,501
|
|
G |
Npy |
neuropeptide Y |
onset no_association |
ISO IEP |
DNA:SNP: :rs3037354 (human) mRNA:decreased expression:hypothalamus DNA:SNP: :rs16147 (human) |
RGD |
PMID:24121255 PMID:1710657 PMID:23697793 PMID:24121255 |
RGD:10431606, RGD:10433553, RGD:10433112, RGD:10431606 |
NCBI chr 4:80,212,111...80,219,310
|
|
G |
Npy2r |
neuropeptide Y receptor Y2 |
onset |
ISO |
DNA:SNP: :rs2234759 (human) |
RGD |
PMID:24121255 |
RGD:10431606 |
NCBI chr 2:167,901,999...167,912,165
|
|
G |
Nrf1 |
nuclear respiratory factor 1 |
onset |
ISO |
mRNA:decreased expression:striatum DNA:SNPs: :rs6949152, rs7781972 (human) |
RGD |
PMID:20529956 PMID:21595933 |
RGD:6771173, RGD:6770890 |
NCBI chr 4:58,664,932...58,772,328
|
|
G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19857538 |
|
NCBI chr 4:148,030,237...148,037,599
|
|
G |
Optn |
optineurin |
|
ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chr17:73,209,572...73,260,251
|
|
G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
protein:increased expression:neuron,astrocyte: |
RGD |
PMID:15668790 |
RGD:10413886 |
NCBI chr13:94,839,484...94,871,295
|
|
G |
Pcp4 |
Purkinje cell protein 4 |
|
ISO |
protein:decreased expression:substantium |
RGD |
PMID:9697113 |
RGD:9850159 |
NCBI chr11:35,759,711...35,861,725
|
|
G |
Pde9a |
phosphodiesterase 9A |
treatment |
IMP |
|
RGD |
PMID:25315303 |
RGD:243048432 |
NCBI chr20:9,469,809...9,562,949
|
|
G |
Plcb3 |
phospholipase C beta 3 |
|
ISO |
|
RGD |
PMID:22917585 |
RGD:13432582 |
NCBI chr 1:204,143,257...204,160,384
|
|
G |
Polr2a |
RNA polymerase II subunit A |
|
ISO |
|
RGD |
PMID:20089533 |
RGD:10043799 |
NCBI chr10:54,951,162...54,977,179
|
|
G |
Ppard |
peroxisome proliferator-activated receptor delta |
|
ISS |
OMIM:143100 |
MouseDO |
|
|
NCBI chr20:6,300,527...6,365,707
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
onset severity no_association treatment |
ISO IEP IDA |
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) protein:increased expression:subthalamic nucleus (rat) DNA:snp:promoter:g.-1437T>C (rs2970870) (human) protein:increased expression:brain (human) DNA:missense mutation:cds:pT612M (rs3736265) (human) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) DNA:snps, haplotypes:multiple (human) mRNA:decreased expression:medium spiny neuron (mouse) mRNA:decreased expression:caudate nucleus (human) |
RGD |
PMID:22589246 PMID:22813864 PMID:21211002 PMID:21757867 PMID:19133136 PMID:24383721 PMID:21595933 PMID:19133136 PMID:21493629 PMID:17018277 PMID:20736066 PMID:17018277 PMID:17018277 PMID:21651979 More...
|
RGD:6484259, RGD:10395291, RGD:10395290, RGD:10395289, RGD:10053656, RGD:10053663, RGD:6770890, RGD:10053656, RGD:10053650, RGD:7242018, RGD:10053648, RGD:7242018, RGD:7242018, RGD:6484269 |
NCBI chr14:63,073,505...63,729,215
|
|
G |
Ppp1r1b |
protein phosphatase 1, regulatory (inhibitor) subunit 1B |
|
IEP |
|
RGD |
PMID:18502785 |
RGD:13515080 |
NCBI chr10:83,843,948...83,853,063
|
|
G |
Ppp1r9a |
protein phosphatase 1, regulatory subunit 9A |
|
ISO |
mRNA:decreased expression:striatum(mouse) mRNA:decreased expression:caudate nucleus |
RGD |
PMID:20089533 PMID:20089533 |
RGD:10043799, RGD:10043799 |
NCBI chr 4:33,936,949...34,258,927
|
|
G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
|
RGD |
PMID:19733666 |
RGD:6483320 |
NCBI chr 2:227,839,058...228,113,560
|
|
G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
|
ISO |
protein:increased phosphorylation, altered localization:nucleus protein:altered localization:nucleus |
RGD |
PMID:21768291 PMID:21768291 |
RGD:6484534, RGD:6484534 |
NCBI chr 2:55,967,766...56,003,450
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
|
RGD |
PMID:19464273 |
RGD:10412729 |
NCBI chr 1:51,236,410...52,430,242
|
|
G |
Psmb9 |
proteasome 20S subunit beta 9 |
|
ISO |
|
RGD |
PMID:14684867 |
RGD:6483364 |
NCBI chr20:4,668,952...4,674,421
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IMP |
|
RGD |
PMID:21362433 |
RGD:5508227 |
NCBI chr13:64,714,063...64,722,320
|
|
G |
Qprt |
quinolinate phosphoribosyltransferase |
|
IDA |
|
RGD |
PMID:2527078 |
RGD:13524507 |
NCBI chr 1:181,718,189...181,733,486
|
|
G |
Rcan1 |
regulator of calcineurin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270310 |
|
NCBI chr11:31,622,208...31,702,150
|
|
G |
Setdb1 |
SET domain bifurcated histone lysine methyltransferase 1 |
|
ISO |
protein:increased expression:neocortex, caudate nucleus (human) |
RGD |
PMID:17142323 |
RGD:9590159 |
NCBI chr 2:182,898,738...182,930,283
|
|
G |
Sin3a |
SIN3 transcription regulator family member A |
|
ISO |
protein:altered localization:cytoplasm |
RGD |
PMID:10441327 |
RGD:5688338 |
NCBI chr 8:57,481,539...57,536,195
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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:22179316 PMID:9949199 PMID:18538940 |
RGD:9585998, RGD:10395240, RGD:9586004 |
NCBI chr20:25,305,953...25,328,000
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|
G |
Slc18a3 |
solute carrier family 18 member A3 |
|
ISO |
mRNA, protein:decreased expression:brain, spinal cord |
RGD |
PMID:16987871 |
RGD:5686805 |
NCBI chr16:7,713,630...7,716,491
|
|
G |
Slc1a2 |
solute carrier family 1 member 2 |
|
ISO |
|
RGD |
PMID:9100675 PMID:17409241 |
RGD:13432194, RGD:13432195 |
NCBI chr 3:109,460,109...109,590,445
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|
G |
Slc29a1 |
solute carrier family 29 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27567601 |
|
NCBI chr 9:22,897,099...22,911,640
|
|
G |
Sod2 |
superoxide dismutase 2 |
susceptibility |
ISO |
|
RGD |
PMID:11161607 |
RGD:13464352 |
NCBI chr 1:50,043,323...50,050,168
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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 chr 3:151,589,546...151,594,869
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|
G |
Syne3 |
spectrin repeat containing, nuclear envelope family member 3 |
|
ISO |
up-regulated |
RGD |
PMID:22202438 |
RGD:11073597 |
NCBI chr 6:123,872,895...123,964,773
|
|
G |
Tbp |
TATA box binding protein |
severity |
ISO |
protein:increased expression:middle frontal gyrus (human) |
RGD |
PMID:12531510 |
RGD:5684339 |
NCBI chr 1:65,136,420...65,153,515
|
|
G |
Tfam |
transcription factor A, mitochondrial |
|
ISO |
mRNA:decreased expression:striatum |
RGD |
PMID:21595933 PMID:20529956 |
RGD:6770890, RGD:6771173 |
NCBI chr20:17,356,243...17,368,293
|
|
G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
|
RGD |
PMID:12614934 |
RGD:1580169 |
NCBI chr10:104,041,604...104,089,214
|
|
G |
Trip10 |
thyroid hormone receptor interactor 10 |
|
ISO |
protein:increased expression:striatum |
RGD |
PMID:12604778 |
RGD:11535137 |
NCBI chr 9:2,219,695...2,234,771
|
|
G |
Tug1 |
taurine up-regulated 1 |
|
ISO |
up-regulated |
RGD |
PMID:22202438 |
RGD:11073597 |
NCBI chr14:78,519,894...78,526,927
|
|
G |
Ucp1 |
uncoupling protein 1 |
treatment |
ISO |
mRNA, protein:decreased expression:brown adipose tissue (mouse) |
RGD |
PMID:20561979 PMID:17055784 |
RGD:10045649, RGD:10045650 |
NCBI chr19:41,713,350...41,721,421
|
|
G |
Ucp2 |
uncoupling protein 2 |
|
ISO |
mRNA:decreased expression:peripheral blood (human) |
RGD |
PMID:23029535 |
RGD:10045655 |
NCBI chr 1:164,251,373...164,257,742
|
|
G |
Xpo5 |
exportin 5 |
|
ISO |
mRNA:increased expression:striatum (mouse) |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr 9:22,237,760...22,275,745
|
|
G |
Zdhhc13 |
zinc finger DHHC-type palmitoyltransferase 13 |
|
ISS |
OMIM:143100 |
MouseDO |
|
|
NCBI chr 1:98,487,319...98,525,906
|
|
G |
Zdhhc17 |
zinc finger DHHC-type palmitoyltransferase 17 |
|
ISS |
OMIM:143100 |
MouseDO |
|
|
NCBI chr 7:48,256,269...48,320,000
|
|
|
G |
Adam33 |
ADAM metallopeptidase domain 33 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,262,395...118,283,456
|
|
G |
Adissp |
adipose secreted signaling protein |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,364,730...118,378,881
|
|
G |
Adra1d |
adrenoceptor alpha 1D |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,793,356...118,809,354
|
|
G |
Ap5s1 |
adaptor related protein complex 5 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,429,618...118,432,929
|
|
G |
Atrn |
attractin |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,110,320...118,244,326
|
|
G |
Avp |
arginine vasopressin |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,246,544...138,248,522
|
|
G |
Bmp2 |
bone morphogenetic protein 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:141,264,648...141,275,416
|
|
G |
Cdc25b |
cell division cycle 25B |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,860,148...138,870,287
|
|
G |
Cds2 |
CDP-diacylglycerol synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:119,514,963...119,553,555
|
|
G |
Cenpb |
centromere protein B |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,396,987...118,399,780
|
|
G |
Chgb |
chromogranin B |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:120,043,824...120,057,169
|
|
G |
Cpxm1 |
carboxypeptidase X (M14 family), member 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,588,532...117,595,330
|
|
G |
Crls1 |
cardiolipin synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:140,572,680...140,591,543
|
|
G |
Ddrgk1 |
DDRGK domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,861,916...117,882,680
|
|
G |
Dnaaf9 |
dynein axonemal assembly factor 9 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,918,047...118,052,641
|
|
G |
Ebf4 |
EBF family member 4 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,498,186...117,566,566
|
|
G |
Fastkd5 |
FAST kinase domains 5 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,830,219...117,847,707
|
|
G |
Fermt1 |
FERM domain containing kindlin 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:120,171,301...120,213,555
|
|
G |
Gfra4 |
GDNF family receptor alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,254,937...118,262,252
|
|
G |
Gpcpd1 |
glycerophosphocholine phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:119,787,681...119,832,550
|
|
G |
Hspa12b |
heat shock protein family A (Hsp70) member 12B |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,346,372...118,364,374
|
|
G |
Idh3b |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,481,845...117,486,909
|
|
G |
Itpa |
inosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,885,464...117,897,247
|
|
G |
Lrrn4 |
leucine rich repeat neuronal 4 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:120,138,093...120,150,877
|
|
G |
Lzts3 |
leucine zipper tumor suppressor family member 3 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,850,286...117,861,132
|
|
G |
Mavs |
mitochondrial antiviral signaling protein |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,451,650...118,466,094
|
|
G |
Mcm8 |
minichromosome maintenance 8 homologous recombination repair factor |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:140,539,590...140,569,891
|
|
G |
Mir103a2 |
microRNA 103a-2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,510,194...118,510,279
|
|
G |
Mrps26 |
mitochondrial ribosomal protein S26 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,769,220...117,770,883
|
|
G |
Nop56 |
NOP56 ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,476,963...117,481,847
|
|
G |
Oxt |
oxytocin/neurophysin I prepropeptide |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,782,650...117,783,490
|
|
G |
Pank2 |
pantothenate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,936,448...138,974,196
|
|
G |
Pced1a |
PC-esterase domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,600,958...117,622,992
|
|
G |
Pcna |
proliferating cell nuclear antigen |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,951,948...139,955,820
|
|
G |
Pdyn |
prodynorphin |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,354,161...137,366,503
|
|
G |
Prnd |
prion like protein doppel |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:119,213,462...119,218,742
|
|
G |
Prnp |
prion protein |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES |
CTD 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 chr 3:139,639,076...139,654,420
|
|
G |
Prokr2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:119,624,738...119,639,442
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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 |
|
NCBI chr 3:117,650,146...117,759,744
|
|
G |
Rassf2 |
Ras association domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,697,187...139,733,402
|
|
G |
Rnf24 |
ring finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,520,459...118,575,213
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|
G |
Shld1 |
shieldin complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:119,938,695...120,011,068
|
|
G |
Siglec1 |
sialic acid binding Ig like lectin 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,287,988...118,307,125
|
|
G |
Slc23a2 |
solute carrier family 23 member 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:119,302,651...119,395,289
|
|
G |
Slc4a11 |
solute carrier family 4 member 11 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,900,223...117,912,787
|
|
G |
Smox |
spermine oxidase |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,731,814...118,767,242
|
|
G |
Snrpb |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,824,870...137,832,479
|
|
G |
Spef1 |
sperm flagellar 1 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:118,390,659...118,396,842
|
|
G |
Stk35 |
serine/threonine kinase 35 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,465,884...137,498,554
|
|
G |
Tgm3 |
transglutaminase 3 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,228,661...117,264,078
|
|
G |
Tgm6 |
transglutaminase 6 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,324,268...117,355,674
|
|
G |
Tmc2 |
transmembrane channel-like 2 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,396,378...117,464,336
|
|
G |
Tmem230 |
transmembrane protein 230 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:119,473,109...119,497,617
|
|
G |
Tmem239 |
transmembrane 239 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,604,765...117,605,978
|
|
G |
Trmt6 |
tRNA methyltransferase 6 non-catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:120,074,899...120,086,639
|
|
G |
Ubox5 |
U-box domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,259,311...138,300,807
|
|
G |
Vps16 |
VPS16 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Huntington disease-like 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:117,622,534...117,644,041
|
|
|
G |
Jph3 |
junctophilin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:49,793,967...49,855,338
|
|
|
G |
Cfap47 |
cilia and flagella associated protein 47 |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
|
NCBI chr X:43,264,687...43,616,607
|
|
G |
Cybb |
cytochrome b-245 beta chain |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
|
NCBI chr X:16,030,596...16,065,065
|
|
G |
Dmd |
dystrophin |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
|
NCBI chr X:51,070,098...53,437,845
|
|
G |
Dynlt3 |
dynein light chain Tctex-type 3 |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
|
NCBI chr X:13,327,933...13,337,139
|
|
G |
Fam47a |
family with sequence similarity 47, member A |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
|
NCBI chr X:42,762,231...42,763,887
|
|
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 |
|
NCBI chr X:13,478,499...13,609,934
|
|
G |
Mageb16 |
MAGE family member B16 |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome |
ClinVar |
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557 |
|
NCBI chr X:43,693,205...43,725,664
|
|
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 |
|
NCBI chr X:42,494,256...42,606,612
|
|
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 |
|
NCBI chr X:45,421,405...45,447,900
|
|
G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
|
ISO |
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 PMID:11761473 PMID:11961232 PMID:13860532 PMID:17133513 PMID:17302777 PMID:25741868 PMID:25934153 PMID:28492532 PMID:28555782 PMID:30128557 PMID:30800707 More...
|
|
NCBI chr X:13,436,412...13,472,830
|
|
|
G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31778857 |
|
NCBI chr10:91,684,288...91,705,284
|
|
G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31778857 |
|
NCBI chr10:91,712,586...91,723,008
|
|
|
G |
Vps13a |
vacuolar protein sorting 13 homolog A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acanthocytosis with neurologic disorder |
CTD ClinVar |
PMID:12404112 PMID:21145924 PMID:22777538 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 1:223,328,784...223,555,500
|
|
G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8619554 PMID:11761473 |
|
NCBI chr X:13,436,412...13,472,830
|
|
|
G |
Aamp |
angio-associated, migratory cell protein |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,863,382...75,869,188
|
|
G |
Abcb6 |
ATP binding cassette subfamily B member 6 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:84,117,222...84,125,939
|
|
G |
Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,688,194...76,695,162
|
|
G |
Arpc2 |
actin related protein 2/3 complex, subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:83,269,884...83,300,610
|
|
G |
Asic4 |
acid sensing ion channel subunit family member 4 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:84,389,610...84,411,545
|
|
G |
Atg9a |
autophagy related 9A |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,677,403...76,688,050
|
|
G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:83,614,045...83,618,052
|
|
G |
Catip |
ciliogenesis associated TTC17 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,945,960...75,953,618
|
|
G |
Cdk5r2 |
cyclin-dependent kinase 5 regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,416,251...76,417,719
|
|
G |
Cfap65 |
cilia and flagella associated protein 65 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,459,211...76,494,199
|
|
G |
Chpf |
chondroitin polymerizing factor |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,963,178...76,967,878
|
|
G |
Cnot9 |
CCR4-NOT transcription complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,084,269...76,109,111
|
|
G |
Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,633,475...76,640,164
|
|
G |
Cryba2 |
crystallin, beta A2 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,447,250...76,457,968
|
|
G |
Ctdsp1 |
CTD small phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,973,694...75,979,298
|
|
G |
Cxcr1 |
C-X-C motif chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:83,216,040...83,220,225
|
|
G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,729,493...75,735,868
|
|
G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:83,712,402...83,743,222
|
|
G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:84,299,626...84,307,344
|
|
G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,731,060...76,739,278
|
|
G |
Dnpep |
aspartyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,799,931...76,808,841
|
|
G |
Fev |
FEV transcription factor, ETS family member |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,439,164...76,443,603
|
|
G |
Glb1l |
galactosidase, beta 1-like |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,693,325...76,705,548
|
|
G |
Gmppa |
GDP-mannose pyrophosphorylase A |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,926,724...76,934,274
|
|
G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,860,758...75,863,260
|
|
G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,504,315...76,510,532
|
|
G |
Mir26b |
microRNA 26b |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,976,596...75,976,680
|
|
G |
Mir375 |
microRNA 375 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,457,911...76,457,985
|
|
G |
Nhej1 |
nonhomologous end-joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,526,322...76,622,488
|
|
G |
Obsl1 |
obscurin like cytoskeletal adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,967,802...76,993,771
|
|
G |
Plcd4 |
phospholipase C, delta 4 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,115,523...76,158,602
|
|
G |
Pnkd |
PNKD metallo-beta-lactamase domain containing |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 |
OMIM CTD ClinVar MouseDO |
PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 PMID:15824259 PMID:16199547 PMID:16216955 PMID:17576681 PMID:19124534 PMID:20301400 PMID:21487022 PMID:22967746 PMID:24033266 PMID:25107857 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28893297 More...
|
|
NCBI chr 9:75,868,620...75,937,126
|
|
G |
Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:83,744,385...83,753,629
|
|
G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis |
ClinVar |
PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24928127 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26467025 PMID:26561923 PMID:26598493 PMID:28492532 PMID:29334453 PMID:33661484 PMID:34782754 More...
|
|
NCBI chr 1:181,625,243...181,628,833
|
|
G |
Ptprn |
protein tyrosine phosphatase, receptor type, N |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,741,010...76,756,704
|
|
G |
Resp18 |
regulated endocrine-specific protein 18 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,765,179...76,771,824
|
|
G |
Retreg2 |
reticulophagy regulator family member 2 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,640,282...76,646,400
|
|
G |
Rnf25 |
ring finger protein 25 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,170,037...76,176,924
|
|
G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,957,193...75,968,115
|
|
G |
Slc23a3 |
solute carrier family 23, member 3 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:84,071,286...84,081,951
|
|
G |
Speg |
striated muscle enriched protein kinase |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:84,314,387...84,371,816
|
|
G |
Stk16 |
serine/threonine kinase 16 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:84,154,285...84,157,521
|
|
G |
Stk36 |
serine/threonine kinase 36 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:83,625,905...83,652,785
|
|
G |
Tmbim1 |
transmembrane BAX inhibitor motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:16199547 PMID:28492532 |
|
NCBI chr 9:75,871,835...75,889,366
|
|
G |
Tmem198 |
transmembrane protein 198 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,968,079...76,974,131
|
|
G |
Ttll4 |
tubulin tyrosine ligase like 4 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,221,659...76,258,219
|
|
G |
Tuba4a |
tubulin, alpha 4A |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:84,158,871...84,174,041
|
|
G |
Usp37 |
ubiquitin specific peptidase 37 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:83,467,966...83,567,848
|
|
G |
Vil1 |
villin 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,991,141...76,018,860
|
|
G |
Wnt10a |
Wnt family member 10A |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,349,931...76,362,400
|
|
G |
Wnt6 |
Wnt family member 6 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,329,882...76,343,523
|
|
G |
Zfand2b |
zinc finger AN1-type containing 2B |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:84,114,170...84,117,115
|
|
G |
Zfp142 |
zinc finger protein 142 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,141,053...76,164,784
|
|
|
G |
Dlg5 |
discs large MAGUK scaffold protein 5 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:75,786...209,735
|
|
G |
Kcna1 |
potassium voltage-gated channel subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy |
ClinVar |
PMID:25741868 PMID:34305802 |
|
NCBI chr 4:161,150,378...161,160,051
|
|
G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy |
CTD 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:27567911 PMID:28492532 PMID:29330545 PMID:29356177 PMID:29545233 PMID:29738522 PMID:29778030 PMID:29933521 PMID:31069529 PMID:31152168 More...
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NCBI chr15:302,480...1,007,675
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