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G |
Adar |
adenosine deaminase, RNA-specific |
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ISO |
ClinVar Annotator: match by term: Aplasia cutis congenita |
ClinVar |
PMID:25741868 |
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NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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G |
Bms1 |
BMS1 ribosome biogenesis factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aplasia cutis congenita |
CTD ClinVar |
PMID:23785305 PMID:25741868 |
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NCBI chr 4:151,558,163...151,595,187
Ensembl chr 4:151,558,163...151,595,127
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G |
Cryl1 |
crystallin, lambda 1 |
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ISO |
ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
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G |
Eda |
ectodysplasin-A |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia |
ClinVar |
PMID:19921643 PMID:25741868 PMID:28492532 |
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NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant |
ClinVar |
PMID:16435307 PMID:18065779 PMID:18561327 PMID:18704500 PMID:18816645 PMID:23210707 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR associated via death domain |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Eef1akmt1 |
EEF1A lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,694,289...31,711,959
Ensembl chr15:31,694,292...31,711,336
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G |
Gja3 |
gap junction protein, alpha 3 |
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ISO |
ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Gjb6 |
gap junction protein, beta 6 |
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ISO |
DNA:missense mutations ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:10610709 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12419304 PMID:12788524 PMID:15213106 PMID:15769851 PMID:16950989 PMID:17259707 PMID:19723508 PMID:20536673 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24514865 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27817781 PMID:28492532 PMID:31589614 PMID:11017065 More...
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RGD:1599828 |
NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Il17d |
interleukin 17D |
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ISO |
ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,665,795...31,688,840
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18348258 |
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NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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G |
Krt16 |
keratin 16 |
susceptibility |
ISO |
protein:mutation: ; L130P; pachyonychia congenita, OMIM:167200 |
RGD |
PMID:7539673 |
RGD:1600184 |
NCBI chr10:85,168,357...85,171,744
Ensembl chr10:85,066,802...85,171,799
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G |
Krt17 |
keratin 17 |
susceptibility |
ISO |
protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 |
RGD |
PMID:7539673 |
RGD:1600184 |
NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 |
RGD |
PMID:10932188 |
RGD:1599795 |
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Pkp1 |
plakophilin 1 |
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ISO |
|
RGD |
PMID:9326952 |
RGD:1599084 |
NCBI chr13:47,309,603...47,357,551
Ensembl chr13:47,309,614...47,357,465
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant |
ClinVar |
PMID:16435307 PMID:18065779 PMID:18561327 PMID:18704500 PMID:18816645 PMID:23210707 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Rhoa |
ras homolog family member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31570889 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Tp63 |
tumor protein p63 |
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ISO |
DNA:missense mutation:exon:p.K193E (577A>G) (human) |
RGD |
PMID:22574117 |
RGD:11568633 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia |
ClinVar |
PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:23167694 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24398796 PMID:24449199 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 More...
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NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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G |
Xpo4 |
exportin 4 |
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ISO |
ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,716,762...31,807,908
Ensembl chr15:31,716,762...31,807,908
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G |
Uba2 |
ubiquitin-like modifier activating enzyme 2 |
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ISO |
ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME |
ClinVar OMIM |
PMID:11920840 PMID:25741868 PMID:28110515 PMID:28492532 PMID:31332306 PMID:31587267 PMID:32758660 PMID:34040189 More...
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NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar RGD |
PMID:26299364 PMID:29924900 PMID:33899511 |
RGD:155663357 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:cds: ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar RGD |
PMID:21820096 PMID:24033266 PMID:25558065 PMID:25824905 |
RGD:155791566 |
NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:23522784 PMID:25558065 PMID:25741868 |
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NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
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G |
Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
OMIM ClinVar |
PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29924900 More...
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NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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G |
Dock6 |
dedicator of cytokinesis 6 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
ClinVar |
PMID:25741868 PMID:26457590 PMID:29924900 |
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NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 2 |
OMIM ClinVar |
PMID:8849019 PMID:12955720 PMID:16199547 PMID:17159513 PMID:20301788 PMID:21820096 PMID:23522784 PMID:25558065 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28492532 PMID:28884918 PMID:29924900 PMID:30111349 More...
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NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 2 |
ClinVar |
PMID:18593716 PMID:20981092 PMID:25741868 PMID:28492532 PMID:29641532 PMID:30582441 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 3 |
OMIM ClinVar |
PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900 |
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NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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G |
Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 4 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23522784 PMID:23860037 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29924900 PMID:31368252 PMID:34782754 More...
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NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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G |
Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
OMIM ClinVar |
PMID:1621771 PMID:9536098 PMID:15959515 PMID:16025100 PMID:16199547 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19597493 PMID:20007775 PMID:20981092 PMID:21457232 PMID:22307742 PMID:23040356 PMID:23578328 PMID:23798201 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:25132448 PMID:25194568 PMID:25260786 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26893459 PMID:27077170 PMID:27760138 PMID:27854218 PMID:27989580 PMID:28074886 PMID:28166811 PMID:28387797 PMID:28492532 PMID:28649221 PMID:28659821 PMID:28776427 PMID:28991257 PMID:29392406 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30115950 PMID:30511478 PMID:30582441 PMID:30609409 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32277046 PMID:32748548 PMID:33064175 PMID:33208564 PMID:33914609 PMID:33994118 PMID:34498425 PMID:35101336 PMID:35288444 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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G |
Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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G |
Ubac1 |
UBA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 6 |
OMIM ClinVar |
PMID:616589 PMID:25741868 PMID:26299364 PMID:28492532 PMID:29924900 PMID:32860008 More...
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NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome |
OMIM ClinVar |
PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:25741868 PMID:27469932 PMID:28166811 PMID:28492532 More...
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:17576681 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:25741868 PMID:28166811 PMID:28492532 PMID:11159940 More...
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RGD:11568643 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:28492532 PMID:32815859 |
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Ift140 |
intraflagellar transport 140 |
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ISS |
OMIM:208500 |
MouseDO |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
CTD ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 |
OMIM ClinVar |
PMID:16199547 PMID:17468754 PMID:19610081 PMID:19648123 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30767363 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Aasdhppt |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
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G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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G |
Alkbh8 |
alkB homolog 8, tRNA methyltransferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
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G |
Amotl1 |
angiomotin-like 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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G |
Ankrd49 |
ankyrin repeat domain 49 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207
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G |
Arhgap20 |
Rho GTPase activating protein 20 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
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G |
Arhgap42 |
Rho GTPase activating protein 42 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870
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G |
Atm |
ATM serine/threonine kinase |
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ISO IMP |
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome DNA:deletion:exon: CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 PMID:1739330 PMID:1849795 PMID:2166257 PMID:2491181 PMID:2557216 PMID:2677459 PMID:3217261 PMID:3280694 PMID:3338800 PMID:3347199 PMID:6504056 PMID:7792600 PMID:8321536 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8789452 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:8958160 PMID:8968760 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9121450 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9600235 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10706620 PMID:10738255 PMID:10767628 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11078475 PMID:11173867 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11507241 PMID:11507245 PMID:11516106 PMID:11526498 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11821961 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11889466 PMID:11897820 PMID:11897822 PMID:11996792 PMID:12072877 PMID:12091354 PMID:12105990 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12400598 PMID:12473176 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12637545 PMID:12646636 PMID:12655570 PMID:12673794 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12708462 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12969974 PMID:12970738 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14634505 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14735203 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15164409 PMID:15174027 PMID:15177039 PMID:15196260 PMID:15217508 PMID:15279808 PMID:15280931 PMID:15390180 PMID:15450731 PMID:15498871 PMID:15629612 PMID:15643608 PMID:15696190 PMID:15713674 PMID:15756685 PMID:15824023 PMID:15824150 PMID:15843990 PMID:15880680 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16035317 PMID:16112413 PMID:16140923 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:16998505 PMID:17000706 PMID:17001622 PMID:17001642 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17298726 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17490827 PMID:17502119 PMID:17517479 PMID:17535973 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17699107 PMID:17876757 PMID:17910737 PMID:17968022 PMID:17985259 PMID:18066086 PMID:18164969 PMID:18174244 PMID:18261794 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18504682 PMID:18560558 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:18813293 PMID:18846412 PMID:19018867 PMID:19081671 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19683821 PMID:19691550 PMID:19705055 PMID:19763152 PMID:19770270 PMID:19773425 PMID:19779456 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20051774 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20308662 PMID:20346647 PMID:20480175 PMID:20544271 PMID:20678261 PMID:20717907 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20945614 PMID:20966255 PMID:20981092 PMID:21150274 PMID:21164480 PMID:21346221 PMID:21354641 PMID:21396839 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21520333 PMID:21593342 PMID:21665257 PMID:21665297 PMID:21681852 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21893220 PMID:21910157 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22130802 PMID:22146522 PMID:22200977 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22354567 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22438227 PMID:22527104 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22763152 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22927308 PMID:22952040 PMID:22995991 PMID:23074045 PMID:23075580 PMID:23091097 PMID:23114601 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23264026 PMID:23322442 PMID:23360865 PMID:23369113 PMID:23376243 PMID:23454770 PMID:23509889 PMID:23532176 PMID:23555315 PMID:23561644 PMID:23566627 PMID:23585368 PMID:23585524 PMID:23612382 PMID:23632773 PMID:23640770 PMID:23652012 PMID:23667852 PMID:23671275 PMID:23726790 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23810757 PMID:23836671 PMID:23946315 PMID:23960188 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24113346 PMID:24120321 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24201163 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24368146 PMID:24405665 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24506781 PMID:24512911 PMID:24549055 PMID:24556621 PMID:24568663 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24682267 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24831771 PMID:24834793 PMID:24853695 PMID:24886963 PMID:24920063 PMID:24935205 PMID:24951259 PMID:24954719 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25159481 PMID:25182519 PMID:25186627 PMID:25231023 PMID:25232094 PMID:25257301 PMID:25275298 PMID:25303977 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25356970 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25600502 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25749350 PMID:25793145 PMID:25862857 PMID:25877891 PMID:25882375 PMID:25892863 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26023681 PMID:26053404 PMID:26085511 PMID:26094658 PMID:26098866 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26181193 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26207792 PMID:26214590 PMID:26220245 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26317927 PMID:26320869 PMID:26380989 PMID:26439923 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26517685 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26635394 PMID:26662178 PMID:26667234 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26757417 PMID:26771497 PMID:26774591 PMID:26778106 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26846839 PMID:26854966 PMID:26878173 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27039262 PMID:27043212 PMID:27064202 PMID:27067391 PMID:27083775 PMID:27093186 PMID:27097373 PMID:27121310 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27224988 PMID:27276934 PMID:27304073 PMID:27322425 PMID:27365426 PMID:27375234 PMID:27413114 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27468087 PMID:27479817 PMID:27484032 PMID:27498913 PMID:27528516 PMID:27535334 PMID:27553368 PMID:27568332 PMID:27581129 PMID:27595995 PMID:27599564 PMID:27602502 PMID:27613453 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27671921 PMID:27720647 PMID:27732944 PMID:27756406 PMID:27779110 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27844328 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27896999 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27980538 PMID:27988859 PMID:27989354 PMID:27997549 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28054583 PMID:28055970 PMID:28076423 PMID:28087566 PMID:28093192 PMID:28093616 PMID:28119368 PMID:28125075 PMID:28126470 PMID:28135048 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28182994 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28211887 PMID:28259476 PMID:28281021 PMID:28281318 PMID:28282032 PMID:28338653 PMID:28423360 PMID:28423363 PMID:28423702 PMID:28440963 PMID:28451460 PMID:28486781 PMID:28492530 PMID:28492532 PMID:28497333 PMID:28503720 PMID:28508083 PMID:28528518 PMID:28569218 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28640387 PMID:28652578 PMID:28657667 PMID:28687971 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28878254 PMID:28894253 PMID:28898322 PMID:28956312 PMID:28975018 PMID:28975465 PMID:29036293 PMID:29053726 PMID:29058119 PMID:29059438 PMID:29101607 PMID:29127364 PMID:29144541 PMID:29163336 PMID:29263802 PMID:29271107 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29423082 PMID:29449433 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29486991 PMID:29487225 PMID:29492593 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29659587 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29731985 PMID:29752822 PMID:29753700 PMID:29754934 PMID:29778231 PMID:29785153 PMID:29789584 PMID:29866652 PMID:29888287 PMID:29895855 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30154229 PMID:30181556 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30253992 PMID:30256826 PMID:30262796 PMID:30267214 PMID:30274973 PMID:30283815 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30340782 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30389154 PMID:30402232 PMID:30413523 PMID:30420857 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30455982 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30563988 PMID:30579816 PMID:30584090 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30625039 PMID:30639167 PMID:30651582 PMID:30662270 PMID:30666157 PMID:30697212 PMID:30713859 PMID:30713931 PMID:30716324 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30816533 PMID:30819809 PMID:30833958 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30938815 PMID:30957677 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31169336 PMID:31173646 PMID:31173964 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31325073 PMID:31341520 PMID:31350202 PMID:31352369 PMID:31360874 PMID:31382929 PMID:31403082 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31432501 PMID:31447099 PMID:31465090 PMID:31472684 PMID:31497750 PMID:31589614 PMID:31611883 PMID:31617914 PMID:31638252 PMID:31658756 PMID:31666926 PMID:31671381 PMID:31691010 PMID:31719806 PMID:31729406 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31776720 PMID:31780696 PMID:31780705 PMID:31784482 PMID:31784493 PMID:31794323 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31874108 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31942411 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32008151 PMID:32019284 PMID:32039725 PMID:32066632 PMID:32068069 PMID:32081490 PMID:32091409 PMID:32107087 PMID:32125938 PMID:32133419 PMID:32172615 PMID:32183301 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32325837 PMID:32338768 PMID:32365829 PMID:32368696 PMID:32427313 PMID:32471518 PMID:32488064 PMID:32521533 PMID:32522261 PMID:32531373 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32775531 PMID:32782288 PMID:32810930 PMID:32830346 PMID:32832836 PMID:32842532 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32866655 PMID:32885271 PMID:32901917 PMID:32906206 PMID:32918381 PMID:32923906 PMID:32936981 PMID:32957588 PMID:32958592 PMID:32959997 PMID:32963463 PMID:32973888 PMID:32980694 PMID:32984025 PMID:32986223 PMID:33011440 PMID:33047316 PMID:33050356 PMID:33054084 PMID:33084218 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33150793 PMID:33163394 PMID:33176972 PMID:33181636 PMID:33191115 PMID:33206719 PMID:33280026 PMID:33302456 PMID:33309985 PMID:33376610 PMID:33395407 PMID:33421217 PMID:33436325 PMID:33471991 PMID:33479248 PMID:33509806 PMID:33544757 PMID:33547824 PMID:33552952 PMID:33558524 PMID:33588785 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33785725 PMID:33850299 PMID:33875564 PMID:33893081 PMID:33919281 PMID:33939675 PMID:33980423 PMID:34067464 PMID:34130653 PMID:34204722 PMID:34250389 PMID:34262154 PMID:34270679 PMID:34284872 PMID:34299313 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34399810 PMID:34426522 PMID:34433815 PMID:34445196 PMID:34453918 PMID:34573280 PMID:34600502 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34654685 PMID:34663476 PMID:34761457 PMID:34771661 PMID:34820595 PMID:34873480 PMID:34884835 PMID:34994613 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35145552 PMID:35201558 PMID:35260754 PMID:35264596 PMID:35284771 PMID:35309086 PMID:35365198 PMID:35402282 PMID:35467778 PMID:35483985 PMID:35534218 PMID:35666082 PMID:35716007 PMID:35806449 PMID:35980532 PMID:197781682 PMID:28007901 PMID:19626507 More...
|
RGD:12879399, RGD:10053611 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
|
|
G |
Atmem1Kyo |
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo |
|
IMP |
|
RGD |
PMID:28007901 |
RGD:12879399 |
|
|
G |
Bak1 |
BCL2-antagonist/killer 1 |
|
ISO |
DNA:mutation:exon:c.342C>T(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
susceptibility |
ISO |
DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
|
|
G |
Bik |
BCL2-interacting killer |
susceptibility |
ISO |
DNA:deletion:intron:IVS4-12delTC(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
|
|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
|
|
G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 PMID:19206169 PMID:22495831 PMID:24446311 PMID:24920063 PMID:25157968 PMID:25741868 PMID:26732095 PMID:27276561 PMID:28492532 PMID:28947956 More...
|
|
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
|
|
G |
Btg4 |
BTG anti-proliferation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
|
|
G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
|
|
G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome |
ClinVar |
PMID:1098053 PMID:1160401 PMID:1849795 PMID:2166257 PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10706620 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11897822 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12400598 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12969974 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14643952 PMID:14654357 PMID:14695534 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15279808 PMID:15390180 PMID:15450731 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:17001622 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17298726 PMID:17333338 PMID:17344846 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17517479 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17968022 PMID:18066086 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18497957 PMID:18504682 PMID:18560558 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18807267 PMID:18813293 PMID:19018867 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19691550 PMID:19763152 PMID:19779456 PMID:19781682 PMID:19931588 PMID:20077034 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20346647 PMID:20480175 PMID:20840352 PMID:20945614 PMID:20966255 PMID:21150274 PMID:21346221 PMID:21354641 PMID:21445571 PMID:21459046 PMID:21665257 PMID:21665297 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22952040 PMID:22995991 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23264026 PMID:23322442 PMID:23454770 PMID:23532176 PMID:23555315 PMID:23585368 PMID:23585524 PMID:23632773 PMID:23640770 PMID:23667852 PMID:23671275 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23836671 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24172824 PMID:24326041 PMID:24356096 PMID:24405665 PMID:24416720 PMID:24448499 PMID:24506781 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24853695 PMID:24920063 PMID:24951259 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25232094 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25793145 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26053404 PMID:26094658 PMID:26098866 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26220245 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26380989 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26662178 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27067391 PMID:27083775 PMID:27121310 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27304073 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27479817 PMID:27498913 PMID:27528516 PMID:27581129 PMID:27595995 PMID:27602502 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28076423 PMID:28093192 PMID:28093616 PMID:28125075 PMID:28126470 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28188106 PMID:28195393 PMID:28259476 PMID:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28508083 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28898322 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29163336 PMID:29263802 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29888287 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30154229 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30253992 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30413523 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30482293 PMID:30504431 PMID:30549301 PMID:30579816 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30651582 PMID:30697212 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30982232 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173646 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31325073 PMID:31341520 PMID:31352369 PMID:31407689 PMID:31429931 PMID:31447099 PMID:31465090 PMID:31611883 PMID:31617914 PMID:31691010 PMID:31731261 PMID:31740029 PMID:31742824 PMID:31754145 PMID:31780696 PMID:31784493 PMID:31843900 PMID:31871109 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32008151 PMID:32039725 PMID:32068069 PMID:32091409 PMID:32107087 PMID:32125938 PMID:32133419 PMID:32183364 PMID:32255556 PMID:32295079 PMID:32338768 PMID:32365829 PMID:32427313 PMID:32471518 PMID:32522261 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32658311 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32782288 PMID:32810930 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32885271 PMID:32906206 PMID:32918381 PMID:32936981 PMID:32957588 PMID:32963463 PMID:32980694 PMID:32986223 PMID:33011440 PMID:33054084 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33163394 PMID:33280026 PMID:33309985 PMID:33376610 PMID:33421217 PMID:33436325 PMID:33471991 PMID:33509806 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33850299 PMID:33919281 PMID:34067464 PMID:34130653 PMID:34204722 PMID:34262154 PMID:34270679 PMID:34299313 PMID:34359559 PMID:34371384 PMID:34573280 PMID:34600502 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34663476 PMID:34761457 PMID:34771661 PMID:34873480 PMID:35039564 PMID:35201558 PMID:35260754 PMID:35264596 PMID:35309086 PMID:35365198 PMID:35402282 PMID:35806449 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Casp1 |
caspase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casp12 |
caspase 12 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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Casp4 |
caspase 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
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Cbs |
cystathionine beta synthase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:12612651 |
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NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Ccdc82 |
coiled-coil domain containing 82 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963
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Cep126 |
centrosomal protein 126 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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Cep57 |
centrosomal protein 57 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
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Cfap300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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Cfap68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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Cntn5 |
contactin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
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Cryab |
crystallin, alpha B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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Cul5 |
cullin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
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Cwc15 |
CWC15 spliceosome-associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325
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Cwf19l2 |
CWF19 like cell cycle control factor 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
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Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
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Ddi1 |
DNA-damage inducible 1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533
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Ddx10 |
DEAD-box helicase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
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Dixdc1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
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Dlat |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Elmod1 |
ELMO domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
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Endod1 |
endonuclease domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,209,123...11,238,680
Ensembl chr 8:11,211,110...11,238,892
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Exph5 |
exophilin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
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Fam76b |
family with sequence similarity 76, member B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861
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Fdx1 |
ferredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
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G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
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G |
Fut4 |
fucosyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682
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G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
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G |
Gucy1a2 |
guanylate cyclase 1 soluble subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
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Hdac4 |
histone deacetylase 4 |
treatment |
ISO |
protein:altered localization:nucleus: |
RGD |
PMID:22466704 PMID:22466704 PMID:22466704 |
RGD:9681455, RGD:9681455, RGD:9681455 |
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hoatz |
HOATZ cilia and flagella associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
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G |
Hspb2 |
heat shock protein family B (small) member 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
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Ifng |
interferon gamma |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il6 |
interleukin 6 |
severity |
ISO |
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RGD |
PMID:26851119 |
RGD:11529801 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Jrkl |
JRK-like |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068
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G |
Kbtbd3 |
kelch repeat and BTB domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
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Kdm4d |
lysine demethylase 4D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
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Layn |
layilin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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LOC100125362 |
hypothetical protein LOC100125362 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
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Mir34b |
microRNA 34b |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
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Mir34c |
microRNA 34c |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp12 |
matrix metallopeptidase 12 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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G |
Mmp27 |
matrix metallopeptidase 27 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp8 |
matrix metallopeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Msantd4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
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G |
Mtmr2 |
myotubularin related protein 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
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G |
Nkapd1 |
NKAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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G |
Npat |
nuclear protein, co-activator of histone transcription |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 |
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NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
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G |
Pdgfd |
platelet derived growth factor D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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G |
Pgr |
progesterone receptor |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
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G |
Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Piwil4 |
piwi-like RNA-mediated gene silencing 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
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G |
Poglut3 |
protein O-glucosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
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G |
Pou2af2 |
POU class 2 homeobox associating factor 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
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G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
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G |
Rab39a |
RAB39A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
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G |
Rdx |
radixin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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G |
Sesn3 |
sestrin 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,133,822...11,189,436
Ensembl chr 8:11,133,678...11,185,842
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G |
Sik2 |
salt-inducible kinase 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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G |
Slc35f2 |
solute carrier family 35, member F2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
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G |
Sln |
sarcolipin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
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G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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G |
Tmem123 |
transmembrane protein 123 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Zc3h12c |
zinc finger CCCH type containing 12C |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder |
CTD ClinVar |
PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:16199547 PMID:16858402 PMID:17576681 PMID:18854157 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23028188 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24332946 PMID:24549055 PMID:24556621 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25133958 PMID:25326635 PMID:25326637 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28849312 PMID:28873162 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30613976 PMID:30924587 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32427313 PMID:32449991 PMID:32566746 PMID:32658311 PMID:32832836 PMID:33471991 PMID:33479248 PMID:33956305 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Pik3r5 |
phosphoinositide-3-kinase, regulatory subunit 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 |
OMIM ClinVar |
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 |
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NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 |
OMIM ClinVar |
PMID:10446192 PMID:11704758 PMID:15136689 PMID:18005052 PMID:18266750 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:27125728 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32347949 PMID:33654647 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9536098 PMID:9792410 PMID:9887333 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15054841 PMID:15174027 PMID:16958054 PMID:17001622 PMID:17576681 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19781682 PMID:20301790 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:33509806 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:33509806 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 |
OMIM ClinVar |
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:15574463 PMID:16199547 PMID:16858402 PMID:18652530 PMID:18854157 PMID:19383352 PMID:19732584 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:21324166 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24332946 PMID:24549055 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26898890 PMID:27124789 PMID:27153395 PMID:27329137 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28559769 PMID:28849312 PMID:29170652 PMID:29348823 PMID:29922827 PMID:30613976 PMID:31033087 PMID:31159747 PMID:32039725 PMID:32449991 PMID:32566746 PMID:32658311 PMID:32832836 PMID:33471991 PMID:33956305 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 |
OMIM ClinVar |
PMID:24911150 PMID:25741868 |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Smarcad1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` |
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ISO |
ClinVar Annotator: match by term: Basan syndrome |
OMIM ClinVar |
PMID:20619487 PMID:21820097 PMID:24664640 PMID:25741868 PMID:26932190 |
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NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type |
ClinVar OMIM RGD |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28492532 PMID:28758091 PMID:30353918 PMID:32424177 PMID:22077973 More...
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RGD:9588484 |
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:32694869 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:mutations:cds:multiple(human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome DNA:mutation:cds:p.Q241R(mouse) CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:4386970 PMID:5771505 PMID:8042262 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12692057 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14678966 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16772349 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17374713 PMID:17483702 PMID:17488796 PMID:17496923 PMID:17551924 PMID:17603483 PMID:17703371 PMID:17704260 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18186519 PMID:18398503 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19416762 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20186801 PMID:20301365 PMID:20301557 PMID:20350999 PMID:20395089 PMID:20413299 PMID:20523244 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21204800 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21871821 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22190897 PMID:22281684 PMID:22301711 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22876591 PMID:22892241 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23093928 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23312806 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23564332 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23756559 PMID:23763990 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23875798 PMID:23918947 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24283439 PMID:24303953 PMID:24388723 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24458522 PMID:24508103 PMID:24512911 PMID:24524299 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24719372 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24918823 PMID:24920063 PMID:25024077 PMID:25035421 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25348715 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26678033 PMID:26732095 PMID:27146152 PMID:27236105 PMID:27276561 PMID:27322245 PMID:27404270 PMID:27478040 PMID:27480103 PMID:28404629 PMID:28492532 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28854169 PMID:28891408 PMID:28911804 PMID:28947956 PMID:29084544 PMID:29493581 PMID:29533785 PMID:29752777 PMID:29907801 PMID:29925953 PMID:30290804 PMID:30581057 PMID:30820351 PMID:30986545 PMID:31263281 PMID:31277584 PMID:31474318 PMID:31560489 PMID:31779674 PMID:31891627 PMID:32810930 PMID:32978145 PMID:33522658 PMID:33683002 PMID:34476331 PMID:16474404 PMID:25035421 PMID:21383153 More...
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RGD:1600471, RGD:11352608, RGD:11567236 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17703371 |
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
DNA:missense mutations:CDS:p.G60R, p.D153V (human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 PMID:17703371 PMID:17704260 PMID:17875937 PMID:18958496 PMID:19020799 PMID:20186801 PMID:20949621 PMID:21686179 PMID:21784453 PMID:21797849 PMID:23059812 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25359213 PMID:25741868 PMID:27763634 PMID:28492532 PMID:29493581 PMID:29517769 PMID:16474404 More...
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RGD:1600471 |
NCBI chr 4:178,185,418...178,218,484
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17703371 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19344873 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:20354455 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22848035 PMID:23093928 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29402968 PMID:29493581 PMID:29643386 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:33482860 More...
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19376813 PMID:20358587 PMID:23885229 PMID:24033266 PMID:24265153 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:33452774 More...
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome |
CTD ClinVar |
PMID:17703371 PMID:25741868 PMID:28492532 |
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rit1 |
Ras-like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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G |
Snapc5 |
small nuclear RNA activating complex, polypeptide 5 |
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ISO |
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
ClinVar |
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NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
OMIM ClinVar |
PMID:2102266 PMID:3265306 PMID:4386970 PMID:5771505 PMID:11313766 PMID:12068308 PMID:15035987 PMID:16007634 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17314276 PMID:17366577 PMID:17437909 PMID:17483702 PMID:17496923 PMID:17551924 PMID:17555829 PMID:17603482 PMID:17603483 PMID:17703371 PMID:17704260 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19206169 PMID:19376813 PMID:19416762 PMID:19537845 PMID:19593635 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20301557 PMID:20350999 PMID:20395089 PMID:20523244 PMID:20859831 PMID:21063443 PMID:21129611 PMID:21784453 PMID:21871821 PMID:22301711 PMID:22310681 PMID:22495831 PMID:22538770 PMID:22698809 PMID:22876591 PMID:22907230 PMID:23093928 PMID:23273605 PMID:23312806 PMID:23564332 PMID:23644139 PMID:23680146 PMID:23875798 PMID:23907581 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24283439 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24524299 PMID:24719372 PMID:24728327 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24920063 PMID:25035421 PMID:25155755 PMID:25157968 PMID:25337068 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25754625 PMID:26242988 PMID:26361991 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26732095 PMID:27146152 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27391121 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28650561 PMID:28687512 PMID:28783719 PMID:28911804 PMID:28947956 PMID:29084544 PMID:29522538 PMID:29533785 PMID:29540830 PMID:29907801 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30732632 PMID:30986545 PMID:31263281 PMID:31474318 PMID:31560489 PMID:33040082 PMID:33683002 PMID:34113008 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
ClinVar |
PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 |
OMIM ClinVar |
PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17409930 PMID:17551339 PMID:17875937 PMID:17875939 PMID:18386799 PMID:18456719 PMID:18628094 PMID:19396835 PMID:20652921 PMID:20949621 PMID:21062266 PMID:21797849 PMID:21871821 PMID:23059812 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25741868 PMID:26037647 PMID:28492532 PMID:29948256 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder |
OMIM ClinVar |
PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18456719 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19344873 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22588879 PMID:22848035 PMID:23093928 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29402968 PMID:29493581 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:33128510 PMID:33482860 More...
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 DNA:missense mutation:CDS:p.P128Q (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:15175348 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19156172 PMID:19376813 PMID:20358587 PMID:21178588 PMID:22753777 PMID:23885229 PMID:24033266 PMID:24265153 PMID:24803665 PMID:25326637 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:29625052 PMID:29696744 PMID:29907801 PMID:30050098 PMID:30773290 PMID:20358587 More...
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RGD:155791562 |
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type |
ClinVar |
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
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ISO |
ClinVar Annotator: match by term: CEDNIK syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
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G |
Snap29 |
synaptosome associated protein 29 |
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ISO |
ClinVar Annotator: match by term: CEDNIK syndrome |
OMIM ClinVar |
PMID:15968592 PMID:19350501 PMID:19896110 PMID:21073448 PMID:23185475 PMID:23231787 PMID:25356970 PMID:25473036 PMID:25741868 PMID:25958742 PMID:26467025 PMID:28388629 PMID:28492532 PMID:31748968 PMID:33422265 PMID:33977139 PMID:35229899 More...
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NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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G |
Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
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ISO |
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome |
OMIM ClinVar |
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 PMID:30023290 More...
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NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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G |
Rnf135 |
ring finger protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27798044 PMID:28166811 PMID:28492532 More...
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Cryl1 |
crystallin, lambda 1 |
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ISO |
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
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G |
Eda |
ectodysplasin-A |
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ISO |
Anhidrotic ectodermal dysplasia, EDA-related |
OMIA |
PMID:579352 PMID:3710892 PMID:4055508 PMID:5462764 PMID:6746381 PMID:9419891 PMID:15500478 PMID:15946744 PMID:16151697 PMID:17924345 PMID:19533784 PMID:20078794 PMID:21730053 PMID:23441037 PMID:27449516 PMID:30276836 PMID:30397018 PMID:31122682 PMID:32482291 PMID:34076266 More...
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NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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G |
Eef1akmt1 |
EEF1A lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,694,289...31,711,959
Ensembl chr15:31,694,292...31,711,336
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G |
Foxi3 |
forkhead box I3 |
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ISO |
Ectodermal dysplasia |
OMIA |
PMID:3998444 PMID:8437436 PMID:15771734 PMID:15958791 PMID:18787161 PMID:23413772 PMID:23441037 PMID:27994129 PMID:28710361 More...
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NCBI chr 4:102,933,487...102,937,655
Ensembl chr 4:102,933,409...102,937,655
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G |
Gja3 |
gap junction protein, alpha 3 |
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ISO |
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Gjb6 |
gap junction protein, beta 6 |
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ISO |
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome |
OMIM ClinVar |
PMID:10610709 PMID:11017065 PMID:11807148 PMID:11874494 PMID:11896458 PMID:12419304 PMID:12788524 PMID:15213106 PMID:15769851 PMID:16950989 PMID:17259707 PMID:19723508 PMID:20536673 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24514865 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27817781 PMID:28492532 PMID:31589614 More...
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NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Il17d |
interleukin 17D |
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ISO |
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,665,795...31,688,840
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G |
Xpo4 |
exportin 4 |
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ISO |
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,716,762...31,807,908
Ensembl chr15:31,716,762...31,807,908
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G |
Prkd1 |
protein kinase D1 |
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ISO |
ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia |
OMIM ClinVar |
PMID:25741868 PMID:27479907 PMID:28492532 PMID:32817298 |
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NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
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G |
Ift122 |
intraflagellar transport 122 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cranioectodermal dysplasia |
CTD ClinVar |
PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Ift43 |
intraflagellar transport 43 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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G |
Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
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G |
Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia |
ClinVar |
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cranioectodermal dysplasia |
CTD ClinVar |
PMID:23559409 PMID:25726036 PMID:25741868 PMID:26260382 PMID:27596865 PMID:28492532 PMID:28621010 PMID:32165824 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome |
CTD ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift122 |
intraflagellar transport 122 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 PMID:19760620 PMID:20493458 PMID:23826986 PMID:24027799 PMID:25741868 PMID:26792575 PMID:28370949 PMID:28492532 PMID:29037998 PMID:33532864 PMID:33717254 More...
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Mbd4 |
methyl-CpG binding domain 4 DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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G |
Rho |
rhodopsin |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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G |
Apob |
apolipoprotein B |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Gdf7 |
growth differentiation factor 7 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,171,495...31,182,447
Ensembl chr 6:31,178,119...31,182,447
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G |
Hs1bp3 |
HCLS1 binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,192,519...31,222,835
Ensembl chr 6:31,192,568...31,222,835
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G |
Laptm4a |
lysosomal protein transmembrane 4 alpha |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,719,378...31,737,007
Ensembl chr 6:31,718,976...31,737,020
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G |
Ldah |
lipid droplet associated hydrolase |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,082,045...31,166,625
Ensembl chr 6:31,082,055...31,166,618
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G |
Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
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G |
Pum2 |
pumilio RNA-binding family member 2 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,462,879...31,542,976
Ensembl chr 6:31,462,872...31,542,976
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G |
Rhob |
ras homolog family member B |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
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G |
Sdc1 |
syndecan 1 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
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G |
Spag17 |
sperm associated antigen 17 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
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NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 DNA:missense mutation:cds:p.L520P (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 PMID:22486404 PMID:22987818 PMID:24027799 PMID:24033266 PMID:24123776 PMID:25326635 PMID:25741868 PMID:25908617 PMID:25914204 PMID:26691894 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:28870638 PMID:29068549 PMID:22987818 More...
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RGD:11553909 |
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift43 |
intraflagellar transport 43 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 DNA:missense mutation:cds:p.L750P (mouse) |
OMIM ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28621010 PMID:29068549 PMID:22228095 More...
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RGD:11552606 |
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Krt14 |
keratin 14 |
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ISO |
ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis |
OMIM ClinVar |
PMID:1303619 PMID:11710919 PMID:25741868 |
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NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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G |
Eda |
ectodysplasin-A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar OMIM RGD |
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25741868 PMID:26273176 PMID:26345974 PMID:27054699 PMID:27305980 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31796081 PMID:31924237 PMID:8696334 More...
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RGD:1598881 |
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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G |
Eda2r |
ectodysplasin A2 receptor |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:22889853 |
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NCBI chr X:62,224,763...62,269,344
Ensembl chr X:62,228,229...62,269,268
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G |
Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
ClinVar OMIM RGD |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16199547 PMID:16435307 PMID:17125505 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:20236127 PMID:20979233 PMID:23401279 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28492532 PMID:33205897 PMID:10431241 More...
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RGD:1598883 |
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR associated via death domain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
CTD ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 |
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16199547 PMID:16435307 PMID:17125505 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:20236127 PMID:20979233 PMID:23401279 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28492532 PMID:33205897 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
OMIM ClinVar |
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR associated via death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Edaradd |
EDAR associated via death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
OMIM ClinVar |
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25640679 PMID:25741868 PMID:28492532 More...
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Edaradd |
EDAR associated via death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
OMIM ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 PMID:28492532 More...
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Kdf1 |
keratinocyte differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type |
ClinVar OMIM |
PMID:27838789 |
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NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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G |
Kremen1 |
kringle containing transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type |
OMIM ClinVar |
PMID:25741868 PMID:27049303 PMID:28492532 |
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NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516
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G |
LOC102551828 |
uncharacterized LOC102551828 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type |
ClinVar |
PMID:25741868 PMID:28492532 |
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G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis |
OMIM ClinVar |
PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 PMID:27736875 PMID:28492532 PMID:29144512 PMID:30046887 PMID:32112661 PMID:34042254 PMID:35741818 More...
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NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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G |
Cst6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type |
OMIM ClinVar |
PMID:25741868 PMID:30425301 |
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NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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G |
Hoxc13 |
homeobox C13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24239177 |
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NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800
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G |
Krt85 |
keratin 85 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type |
OMIM ClinVar |
PMID:16525032 PMID:19865094 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 7:132,630,184...132,636,988
Ensembl chr 7:132,630,058...132,637,049
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G |
Hoxc13 |
homeobox C13 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type |
OMIM ClinVar |
PMID:23063621 PMID:23315978 PMID:25741868 |
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NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 DNA:mutation:splicing site: |
OMIM ClinVar RGD |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15229184 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18179816 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25068423 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
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RGD:12791265 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Nfkbia |
NFKB inhibitor alpha |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
OMIM ClinVar |
PMID:14523047 PMID:15337789 PMID:17931563 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25741868 PMID:26888281 PMID:28417298 PMID:28492532 PMID:29948576 More...
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Rhoa |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies |
ClinVar OMIM |
PMID:25741868 PMID:31570889 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Cdh3 |
cadherin 3 |
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ISO |
ClinVar Annotator: match by term: EEM syndrome |
OMIM ClinVar |
PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 PMID:17576681 PMID:25741868 PMID:27386845 PMID:28041643 PMID:28492532 PMID:29620724 PMID:32581362 More...
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NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Mcgrath syndrome |
ClinVar |
PMID:18632414 PMID:21636032 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Pkp1 |
plakophilin 1 |
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ISO |
ClinVar Annotator: match by term: Mcgrath syndrome |
OMIM ClinVar |
PMID:9326952 PMID:10951270 PMID:11994137 PMID:16781314 PMID:24073657 PMID:25741868 PMID:28492532 More...
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NCBI chr13:47,309,603...47,357,551
Ensembl chr13:47,309,614...47,357,465
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Nectin4 |
nectin cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 |
OMIM ClinVar |
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 More...
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NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
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Grhl2 |
grainyhead-like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome |
OMIM ClinVar |
PMID:24033266 PMID:25152456 PMID:25741868 PMID:28492532 |
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NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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Tp63 |
tumor protein p63 |
susceptibility |
ISO |
DNA:frameshift mutation, missense mutations: :multiple ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A) |
ClinVar CTD OMIM RGD |
PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28166811 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 More...
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RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome DNA:missense mutation:exon:p.A346G (c.1037C>G) (human) DNA:frameshift mutation, missense mutations:exon:multiple DNA:missense mutations: :multiple DNA:missense mutation:exon:p.R280C (955C>T) (human) DNA:missense mutation:exon:p.R318H (mouse) |
CTD ClinVar RGD |
PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12939657 PMID:16691622 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28166811 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:25983622 PMID:11462173 PMID:19903181 PMID:15324320 PMID:23775923 More...
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RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Add1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Adra2c |
adrenoceptor alpha 2C |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,471,143...75,472,846
Ensembl chr14:75,471,143...75,472,846
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Ccdc39 |
coiled-coil domain containing 39 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:23255504 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31980526 |
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NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
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Cytl1 |
cytokine like 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:73,053,876...73,058,886
Ensembl chr14:73,053,877...73,058,886
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Dok7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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Evc |
EvC ciliary complex subunit 1 |
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ISO |
DNA:mutations:multiple (human) DNA:mutation:exon:c.1678G>T(human) DNA:deletion:cds:c.731_757(human) ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar OMIM RGD |
PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 PMID:16199547 PMID:17024374 PMID:17576681 PMID:18454448 PMID:18947413 PMID:19251731 PMID:19744229 PMID:19810119 PMID:19876929 PMID:20184732 PMID:23220543 PMID:23924873 PMID:24431330 PMID:25174843 PMID:25492405 PMID:25640679 PMID:25741868 PMID:26621368 PMID:26625674 PMID:26748586 PMID:28492532 PMID:28854412 PMID:29068549 PMID:29321360 PMID:30805457 PMID:31028937 PMID:31319225 PMID:31338997 PMID:10700184 PMID:29229899 PMID:34037314 More...
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RGD:1302823, RGD:155260290, RGD:155260285 |
NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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Evc2 |
EvC ciliary complex subunit 2 |
susceptibility |
ISO |
DNA:mutations ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar OMIM RGD |
PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16199547 PMID:16404586 PMID:17024374 PMID:17576681 PMID:18454448 PMID:19251731 PMID:19810119 PMID:19876929 PMID:20184732 PMID:21199751 PMID:21815252 PMID:22190900 PMID:22406498 PMID:23026208 PMID:23220543 PMID:24033266 PMID:25047945 PMID:25174843 PMID:25326635 PMID:25500235 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26064711 PMID:26580685 PMID:26748586 PMID:26818569 PMID:27168972 PMID:27280866 PMID:28492532 PMID:29068549 PMID:29456477 PMID:32369273 PMID:12571802 More...
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RGD:1600212 |
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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Fam193a |
family with sequence similarity 193, member A |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
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Grk4 |
G protein-coupled receptor kinase 4 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
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Haus3 |
HAUS augmin-like complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
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Hgfac |
HGF activator |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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Htt |
huntingtin |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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Lrpap1 |
LDL receptor related protein associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
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Lyar |
Ly1 antibody reactive |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,576,878...72,590,854
Ensembl chr14:72,576,879...72,590,612
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Mfsd10 |
major facilitator superfamily domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
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Msantd1 |
Myb/SANT DNA binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
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Msx1 |
msh homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Mxd4 |
Max dimerization protein 4 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
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Nop14 |
NOP14 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,081,318...76,102,454
Ensembl chr14:76,080,793...76,102,453
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Nsg1 |
neuronal vesicle trafficking associated 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,648,771...72,670,521
Ensembl chr14:72,648,741...72,670,514
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Otop1 |
otopetrin 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,505,036...72,532,497
Ensembl chr14:72,503,592...72,532,497
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Poln |
DNA polymerase nu |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463
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Rgs12 |
regulator of G-protein signaling 12 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
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Rnf4 |
ring finger protein 4 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
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Sh3bp2 |
SH3-domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,176,097...76,213,331
Ensembl chr14:76,176,101...76,213,251
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Stk32b |
serine/threonine kinase 32B |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:73,077,944...73,336,128
Ensembl chr14:73,078,061...73,336,458
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Stx18 |
syntaxin 18 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,670,683...72,761,423
Ensembl chr14:72,670,411...72,761,464
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Tmem128 |
transmembrane protein 128 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,539,530...72,548,623
Ensembl chr14:72,539,532...72,548,550
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Tnip2 |
TNFAIP3 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,228,283...76,246,609
Ensembl chr14:76,228,371...76,275,265
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Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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Wdr35 |
WD repeat domain 35 |
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ISO |
DNA:snps:introns, cds:multiple (human) ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar RGD |
PMID:25741868 PMID:25908617 |
RGD:11073852 |
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Zbtb49 |
zinc finger and BTB domain containing 49 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,590,675...72,612,404
Ensembl chr14:72,590,708...72,612,404
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Zfyve28 |
zinc finger FYVE-type containing 28 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis |
OMIM ClinVar |
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:28492532 PMID:33448156 More...
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis |
ClinVar |
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8456858 PMID:12460918 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20978259 PMID:21063026 PMID:21079152 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22734028 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23255105 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:24740626 PMID:24836576 PMID:25044103 PMID:25157968 PMID:25251940 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26619011 PMID:26623049 PMID:26970110 PMID:28492532 PMID:29298116 PMID:30289595 PMID:30443000 PMID:30891959 PMID:31891627 PMID:32934698 More...
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NCBI chr 4:178,185,418...178,218,484
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Porcn |
porcupine O-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Focal dermal hypoplasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 PMID:19586929 PMID:19863546 PMID:25640089 PMID:25741868 PMID:28492532 More...
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NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Gorlin-Goltz Syndrome |
ClinVar |
PMID:11457640 PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptch2 |
patched 2 |
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ISO |
ClinVar Annotator: match by term: Gorlin-Goltz Syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Gorlin-Goltz Syndrome |
ClinVar |
PMID:12068298 PMID:16199547 PMID:19533801 PMID:21188540 PMID:22508808 PMID:25403219 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Cyp26c1 |
cytochrome P450, family 26, subfamily C, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:235,458,961...235,468,433
Ensembl chr 1:235,459,356...235,466,842
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G |
Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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G |
Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type |
OMIM ClinVar |
PMID:8818454 PMID:14069095 PMID:20691403 PMID:21931173 |
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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Cyp26c1 |
cytochrome P450, family 26, subfamily C, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 |
OMIM ClinVar |
PMID:16530710 PMID:23161670 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29263414 More...
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NCBI chr 1:235,458,961...235,468,433
Ensembl chr 1:235,459,356...235,466,842
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Eda |
ectodysplasin-A |
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ISS ISO |
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
MouseDO ClinVar RGD |
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26345974 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31306530 PMID:31796081 PMID:31924237 PMID:31028034 More...
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RGD:14398763 |
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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Edar |
ectodysplasin-A receptor |
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ISS ISO |
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
MouseDO ClinVar |
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Edaradd |
EDAR associated via death domain |
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IAGP ISO |
DNA:missense mutation:exon:p.Pro153Ser(rat) ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar RGD |
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 PMID:22013926 More...
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RGD:14398762 |
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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EdaraddswhKyo |
EDAR-associated death domain;swh Kyo mutant |
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IAGP |
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RGD |
PMID:22013926 |
RGD:14398762 |
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Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Traf6 |
TNF receptor associated factor 6 |
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ISS |
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 |
MouseDO |
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NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
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Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 PMID:23401279 PMID:24033266 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 More...
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NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Ubr1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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ISO |
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human) DNA:splice-site mutation:cds:IVS26+5G>A (human) ClinVar Annotator: match by term: Johanson-Blizzard syndrome |
OMIM ClinVar RGD |
PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 PMID:24599544 PMID:25741868 PMID:28492532 PMID:21711208 PMID:19006206 More...
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RGD:155882463, RGD:155882462 |
NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
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Galk1 |
galactokinase 1 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
ClinVar |
PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 PMID:11886501 PMID:12485428 PMID:18955862 PMID:20301304 PMID:23496044 PMID:25741868 PMID:28492532 More...
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NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
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Itga6 |
integrin subunit alpha 6 |
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ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
OMIM ClinVar |
PMID:9185503 PMID:14675179 PMID:23496044 PMID:25741868 PMID:27607025 PMID:28492532 More...
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NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
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Itgb4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6177243 PMID:7545057 PMID:9536098 PMID:9546354 PMID:9674902 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11251584 PMID:11328943 PMID:11886501 PMID:12485428 PMID:17576681 PMID:18348258 PMID:18955862 PMID:20301304 PMID:20301336 PMID:23013259 PMID:23496044 PMID:24033266 PMID:25741868 PMID:26739954 PMID:28492532 More...
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NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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Plec |
plectin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia |
CTD ClinVar |
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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Ctsc |
cathepsin C |
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ISO |
ClinVar Annotator: match by term: Haim-Munk syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:15111626 PMID:16199547 PMID:17576681 PMID:18809751 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28242153 PMID:28317349 PMID:28492532 PMID:29410039 PMID:31282082 More...
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NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis DNA:mutation:cds:c.37G>C(p.G13R)(human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27444071 PMID:27589201 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 PMID:22683711 More...
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RGD:11098548 |
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Linear nevus sebaceous CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis |
ClinVar |
PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27444071 PMID:27589201 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Linear nevus sebaceous |
OMIM ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:12460918 PMID:12727991 PMID:14508525 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18948947 PMID:19075190 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 More...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Cox7b |
cytochrome c oxidase subunit 7B |
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ISO |
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 |
OMIM ClinVar |
PMID:9747372 PMID:23122588 PMID:25741868 |
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NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
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G |
Col11a1 |
collagen type XI alpha 1 chain |
susceptibility |
ISO |
DNA:SNP:splice junction: ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 PMID:13520885 PMID:16199547 PMID:17236192 PMID:17576681 PMID:17999364 PMID:19449424 PMID:20513134 PMID:21035103 PMID:23922384 PMID:25240749 PMID:25741868 PMID:26377240 PMID:26467025 PMID:28492532 PMID:28981474 PMID:32427345 PMID:32756486 PMID:32963807 PMID:9529347 More...
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RGD:1600881 |
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Pcdh12 |
protocadherin 12 |
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ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
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G |
Rnf14 |
ring finger protein 14 |
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ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685
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G |
Rnpc3 |
RNA-binding region (RNP1, RRM) containing 3 |
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ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747
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G |
Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Marshall/Stickler syndrome |
ClinVar |
PMID:1536174 PMID:10486316 |
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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G |
Krt14 |
keratin 14 |
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ISO |
ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8496458 PMID:13141721 PMID:16960809 |
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NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
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G |
Lztr1 |
leucine-zipper-like transcription regulator 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2 DNA, protein:multiple, multiple:multiple, blood (human) DNA:multiple:multiple (human) |
CTD ClinVar OMIM RGD |
PMID:16199547 PMID:23999291 PMID:24033266 PMID:24362817 PMID:24448499 PMID:25303977 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:26803811 PMID:27921248 PMID:28017249 PMID:28121514 PMID:28492532 PMID:29346770 PMID:29384852 PMID:29409008 PMID:29469822 PMID:29489754 PMID:30006736 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30564305 PMID:30664951 PMID:30665374 PMID:30859559 PMID:31128261 PMID:31130284 PMID:31182298 PMID:31219622 PMID:31370276 PMID:31438995 PMID:31533111 PMID:31825158 PMID:32371905 PMID:32981126 PMID:33258288 PMID:33413596 PMID:35806449 PMID:25480913 PMID:28365909 PMID:29409008 More...
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RGD:151708709, RGD:151708708, RGD:151708704 |
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Schwannomatosis 1 |
OMIM ClinVar |
PMID:7798645 PMID:9399891 PMID:25741868 |
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NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) DNA:multiple:multiple (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19582488 PMID:20930055 PMID:22038540 PMID:22434358 PMID:22949514 PMID:24362817 PMID:24728327 PMID:24933152 PMID:25741868 PMID:26073604 PMID:28492532 PMID:29517885 PMID:22038540 PMID:28365909 PMID:29409008 More...
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RGD:155804288, RGD:151708708, RGD:151708704 |
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome |
OMIM ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
DNA:missense mutation;exon:2350C>T(p.H784Y)(human) |
RGD |
PMID:18478038 |
RGD:13439711 |
NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
DNA:missense mutation:cds:W210C (human) |
RGD |
PMID:15574463 |
RGD:2317722 |
NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Rhoa |
ras homolog family member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31570889 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Nf1 |
neurofibromin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 |
CTD ClinVar |
PMID:9150739 PMID:9180088 PMID:10678181 |