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G |
Apaf1 |
apoptotic peptidase activating factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9753320 |
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NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10195895 PMID:10195896 PMID:10346820 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17470448 |
|
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10631169 |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Gorab |
golgin, RAB6-interacting |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18997784 |
|
NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
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G |
Hccs |
holocytochrome c synthase |
|
ISO |
microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C |
RGD |
PMID:17033964 |
RGD:1600417 |
NCBI chr X:24,932,943...24,942,376
Ensembl chr X:24,933,002...24,942,366
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G |
Hr |
HR, lysine demethylase and nuclear receptor corepressor |
|
ISO |
atrichia with papular lesions, OMIM:209500 |
RGD |
PMID:9856480 |
RGD:1599576 |
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17041601 |
|
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24494196 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Supv3l1 |
Suv3 like RNA helicase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19145458 |
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NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054
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G |
Tp63 |
tumor protein p63 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10227294 |
|
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Zfp469 |
zinc finger protein 469 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18452888 |
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NCBI chr19:50,282,434...50,324,010
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
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ISO |
mRNA:decreased expression:skin |
RGD |
PMID:17606602 |
RGD:7483609 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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|
G |
Itpr3 |
inositol 1,4,5-trisphosphate receptor, type 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
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G |
Mkln1 |
muskelin 1 |
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ISO |
Acrodermatitis, lethal |
OMIA |
PMID:2402865 PMID:3710872 PMID:8981276 PMID:9256960 PMID:10563006 PMID:11105789 PMID:11440398 PMID:14592736 PMID:17693109 PMID:29565995 More...
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NCBI chr 4:59,815,912...60,124,047
Ensembl chr 4:60,002,464...60,123,993
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G |
Psmb9 |
proteasome 20S subunit beta 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27258892 |
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NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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G |
Slc39a4 |
solute carrier family 39 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16714095 PMID:16819703 PMID:16889938 PMID:17190629 PMID:17202136 |
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NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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G |
Slc39a4 |
solute carrier family 39 member 4 |
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ISO |
DNA:deletions, snp, missense mutations:multiple (human) ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 PMID:12955721 PMID:14709598 PMID:15358787 PMID:16199547 PMID:17483098 PMID:19370757 PMID:20981092 PMID:24033266 PMID:25741868 PMID:28492532 PMID:12068297 More...
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RGD:1599005 |
NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
|
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 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:26299364 PMID:29924900 |
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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 |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:21820096 PMID:24033266 PMID:25558065 |
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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 |
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 |
|
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 |
|
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: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 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 2 |
ClinVar |
PMID:18593716 PMID:20951801 PMID:28492532 |
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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 |
ClinVar Annotator: match by term: Adams-Oliver syndrome 3 |
OMIM ClinVar |
PMID:22883147 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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:25132448 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 |
|
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 |
|
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 |
|
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 |
|
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:20951801 PMID:21457232 PMID:22307742 PMID:23040356 PMID:23102684 PMID:23578328 PMID:23798201 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:25132448 PMID:25260786 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26893459 PMID:27760138 PMID:27854218 PMID:27989580 PMID:28166811 PMID:28387797 PMID:28492532 PMID:28991257 PMID:29392406 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30115950 PMID:30511478 PMID:30609409 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32748548 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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:25132448 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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 6 |
OMIM ClinVar |
PMID:616589 PMID:25741868 PMID:26299364 PMID:29924900 PMID:32860008 |
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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 |
|
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:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:17041931 PMID:17431922 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:25741868 PMID:27469932 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 |
Eln |
elastin |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:6736354 |
RGD:9585766 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
|
RGD |
PMID:9274625 |
RGD:7394827 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tp63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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:11727201 PMID:12673792 PMID:16199547 PMID:17468754 PMID:19610081 PMID:19648123 PMID:20301601 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 DNA:deletion:exon: CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:1632451 PMID:1953577 PMID:2491181 PMID:2557216 PMID:2677459 PMID:3338800 PMID:6504056 PMID:7792600 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: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: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:17517479 PMID:17535973 PMID:17540590 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:21681852 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21910157 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22130802 PMID:22146522 PMID:22200977 PMID:22213089 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:24451234 PMID:24506781 PMID:24512911 PMID:24549055 PMID:24556621 PMID:24568663 PMID:24628946 PMID:24643969 PMID:24682267 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 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: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: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:26344566 PMID:26380989 PMID:26439923 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26517685 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 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:27200287 PMID:27276934 PMID:27304073 PMID:27322425 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:27854218 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:28093192 PMID:28093616 PMID:28119368 PMID:28123174 PMID:28125075 PMID:28126470 PMID:28135048 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28182994 PMID:28188106 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28211887 PMID:28259476 PMID:28281021 PMID:28282032 PMID:28338653 PMID:28423360 PMID:28423363 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:28687356 PMID:28687971 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28849312 PMID:28873162 PMID:28875981 PMID:28878254 PMID:28894253 PMID:28956312 PMID:28975018 PMID:28975465 PMID:29025590 PMID:29036293 PMID:29058119 PMID:29059438 PMID:29101607 PMID:29127364 PMID:29141312 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:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29566657 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29659587 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29754934 PMID:29778231 PMID:29785153 PMID:29789584 PMID:29866652 PMID:29888287 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30124550 PMID:30128536 PMID:30181556 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30253992 PMID:30256826 PMID:30262796 PMID:30267214 PMID:30283815 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30363071 PMID:30374176 PMID:30389154 PMID:30402232 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30455982 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30579816 PMID:30584090 PMID:30607632 PMID:30613976 PMID:30620386 PMID:30651582 PMID:30666157 PMID:30713859 PMID:30713931 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30938815 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173964 PMID:31206626 PMID:31214711 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31285527 PMID:31325073 PMID:31341520 PMID:31360874 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31432501 PMID:31447099 PMID:31470354 PMID:31589614 PMID:31611883 PMID:31617914 PMID:31658756 PMID:31666926 PMID:31691010 PMID:31719806 PMID:31731261 PMID:31742824 PMID:31780696 PMID:31784482 PMID:31784493 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31882575 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31942411 PMID:31948886 PMID:31970404 PMID:32002120 PMID:32039725 PMID:32068069 PMID:32107087 PMID:32125938 PMID:32172615 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32325837 PMID:32338768 PMID:32365829 PMID:32427313 PMID:32471518 PMID:32488064 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32676327 PMID:32694154 PMID:32810930 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32901917 PMID:32906206 PMID:32918381 PMID:32958592 PMID:32986223 PMID:33011440 PMID:33054084 PMID:33084218 PMID:33095795 PMID:33128190 PMID:33134171 PMID:33181636 PMID:33280026 PMID:33309985 PMID:33395407 PMID:33421217 PMID:33436325 PMID:33471991 PMID:33479248 PMID:33547824 PMID:33558524 PMID:33606809 PMID:33630411 PMID:33747920 PMID:33850299 PMID:34204722 PMID:34262154 PMID:34270679 PMID:34299313 PMID:197781682 PMID:28007901 PMID:19626507 More...
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RGD:12879399, RGD:10053611 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atmem1Kyo |
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo |
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IMP |
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RGD |
PMID:28007901 |
RGD:12879399 |
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G |
Bak1 |
BCL2-antagonist/killer 1 |
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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
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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
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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
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G |
Birc2 |
baculoviral IAP repeat-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 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-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 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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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:25348715 PMID:25741868 PMID:26732095 PMID:27276561 PMID:28492532 PMID:28947956 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 |
Btg4 |
BTG anti-proliferation factor 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 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
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G |
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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G |
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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G |
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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G |
Ccdc82 |
coiled-coil domain containing 82 |
|
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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G |
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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G |
Cep57 |
centrosomal protein 57 |
|
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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G |
Cfap300 |
cilia and flagella associated protein 300 |
|
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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G |
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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G |
Colca2 |
colorectal cancer associated 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 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
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G |
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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G |
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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G |
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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G |
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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G |
Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
|
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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G |
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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G |
Ddx10 |
DEAD-box helicase 10 |
|
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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G |
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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G |
Dlat |
dihydrolipoamide S-acetyltransferase |
|
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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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
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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G |
Elmod1 |
ELMO domain containing 1 |
|
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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G |
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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G |
Exph5 |
exophilin 5 |
|
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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G |
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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G |
Fdx1 |
ferredoxin 1 |
|
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 |
|
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 |
|
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 |
|
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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G |
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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G |
Hoatz |
HOATZ cilia and flagella associated protein |
|
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 |
|
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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G |
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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G |
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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G |
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 |
|
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 |
|
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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G |
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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G |
Layn |
layilin |
|
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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G |
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 |
LOC689959 |
hypothetical protein LOC689959 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
|
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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G |
Mir34b |
microRNA 34b |
|
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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G |
Mir34c |
microRNA 34c |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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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 |
|
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 |
|
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 domain, class 2, associating factor 2 |
|
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 |
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 |
|
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 |
RGD1311251 |
similar to RIKEN cDNA 4930550C14 |
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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 |
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:10234507 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:11849780 PMID:11857346 PMID:11897822 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:14654357 PMID:14695534 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15279808 PMID:15390180 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:17540590 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:19823873 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:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22146522 PMID:22213089 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: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:24416720 PMID:24448499 PMID:24451234 PMID:24506781 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 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:25741868 PMID:25793145 PMID:25877891 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:26344566 PMID:26380989 PMID:26439923 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 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:27083775 PMID:27121310 PMID:27153395 PMID:27159176 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: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:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28687356 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29141312 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:29566657 PMID:29596542 PMID:29600275 PMID:29659569 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29888287 PMID:29909963 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30253992 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30322717 PMID:30363071 PMID:30374176 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30504431 PMID:30549301 PMID:30579816 PMID:30607632 PMID:30613976 PMID:30620386 PMID:30651582 PMID:30723761 PMID:30730459 PMID:30814645 PMID:30819809 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30982232 PMID:31050087 PMID:31054420 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31206626 PMID:31214711 PMID:31216378 PMID:31248605 PMID:31273614 PMID:31285527 PMID:31325073 PMID:31341520 PMID:31407689 PMID:31429931 PMID:31447099 PMID:31617914 PMID:31691010 PMID:31731261 PMID:31742824 PMID:31780696 PMID:31784493 PMID:31843900 PMID:31871109 PMID:31882575 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31948886 PMID:32002120 PMID:32039725 PMID:32068069 PMID:32107087 PMID:32125938 PMID:32183364 PMID:32295079 PMID:32338768 PMID:32365829 PMID:32471518 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32658311 PMID:32676327 PMID:32694154 PMID:32810930 PMID:32832836 PMID:32853339 PMID:32860008 PMID:32906206 PMID:32918381 PMID:32986223 PMID:33011440 PMID:33054084 PMID:33095795 PMID:33134171 PMID:33280026 PMID:33309985 PMID:33421217 PMID:33436325 PMID:33471991 PMID:33558524 PMID:33630411 PMID:33747920 PMID:33850299 PMID:34270679 PMID:34299313 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 |
RGD1564937 |
similar to RIKEN cDNA 1110032A03 |
|
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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G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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:24549055 PMID:24556621 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 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:28699156 PMID:28849312 PMID:28873162 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30441849 PMID:31159747 PMID:31273614 PMID:32566746 PMID:32658311 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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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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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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Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 |
OMIM ClinVar |
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 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: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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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9536098 PMID:9792410 PMID:9887333 PMID:10234507 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:19823873 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25525159 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:30819809 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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RGD1311251 |
similar to RIKEN cDNA 4930550C14 |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10234507 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:19823873 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 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:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 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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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: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:25640679 PMID:25741868 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 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:29752822 PMID:29922827 PMID:30441849 PMID:31159747 PMID:32566746 PMID:32658311 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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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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Nlrp1a |
NLR family, pyrin domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis |
OMIM ClinVar |
PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 PMID:28492532 More...
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NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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Terc |
telomerase RNA component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:112,815,654...112,816,041
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Tert |
telomerase reverse transcriptase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Actrt3 |
actin-related protein T3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,799,061...112,801,021
Ensembl chr 2:112,799,011...112,801,075
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Gpr160 |
G protein-coupled receptor 160 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,483,364...112,563,072
Ensembl chr 2:112,484,935...112,563,148
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Inpp4a |
inositol polyphosphate-4-phosphatase type I A |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:15849264 PMID:21931702 PMID:25741868 |
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NCBI chr 9:39,528,245...39,650,574
Ensembl chr 9:39,528,674...39,646,581
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Lrrc31 |
leucine rich repeat containing 31 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,702,844...112,725,431
Ensembl chr 2:112,700,136...112,724,322
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Lrrc34 |
leucine rich repeat containing 34 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
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Lrriq4 |
leucine-rich repeats and IQ motif containing 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:112,729,417...112,753,234
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Mecom |
MDS1 and EVI1 complex locus |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:25741868 PMID:27192671 |
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NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mynn |
myoneurin |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
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Phc3 |
polyhomeotic homolog 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,408,709...112,483,719
Ensembl chr 2:112,408,531...112,476,540
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Prkci |
protein kinase C, iota |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
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Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29344583 |
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Samd7 |
sterile alpha motif domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,624,942...112,639,549
Ensembl chr 2:112,624,942...112,639,549
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Sec62 |
SEC62 homolog, preprotein translocation factor |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,570,810...112,607,576
Ensembl chr 2:112,570,819...112,601,814
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Skil |
SKI-like proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
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Terc |
telomerase RNA component |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
OMIM ClinVar |
PMID:10721988 PMID:11574891 PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 PMID:15098033 PMID:15319288 PMID:15550482 PMID:15886322 PMID:16332973 PMID:17460043 PMID:17640862 PMID:18931339 PMID:19095616 PMID:19835419 PMID:20022961 PMID:20193600 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:25612863 PMID:25741868 PMID:26024875 PMID:26136524 PMID:27192671 PMID:27622320 PMID:28492532 PMID:29146883 PMID:30426156 PMID:30523342 PMID:31265491 More...
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NCBI chr 2:112,815,654...112,816,041
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Tert |
telomerase reverse transcriptase |
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ISS ISO |
OMIM:127550 ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
MouseDO ClinVar |
PMID:12167716 PMID:15885610 PMID:16247010 PMID:16627250 PMID:16990594 PMID:18042801 PMID:18635888 PMID:18931339 PMID:21602826 PMID:23901009 PMID:24033266 PMID:25365545 PMID:25562321 PMID:25741868 PMID:26329388 PMID:26360549 PMID:26887940 PMID:27418648 PMID:28154186 PMID:28492532 PMID:28813500 PMID:30523342 More...
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:18669893 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 |
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NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISS ISO |
OMIM:127550 ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
MouseDO ClinVar |
PMID:18252230 PMID:18669893 PMID:19090550 PMID:21199492 PMID:21536674 PMID:22211879 PMID:23094712 PMID:25741868 PMID:26083318 PMID:26859482 PMID:28492532 PMID:29742735 PMID:30523342 More...
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
OMIM ClinVar |
PMID:15814878 PMID:15885610 PMID:16247010 PMID:16627250 PMID:17392301 PMID:17460043 PMID:17785587 PMID:18042801 PMID:18460650 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20966039 PMID:21258621 PMID:21520173 PMID:21520174 PMID:21635204 PMID:22476886 PMID:22853774 PMID:23538340 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26887940 PMID:28154186 PMID:28192371 PMID:28492532 PMID:28677271 PMID:29463756 PMID:29483670 PMID:30523342 PMID:30995915 PMID:31268371 PMID:33718801 More...
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 |
ClinVar |
PMID:18669893 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 |
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NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 |
OMIM ClinVar |
PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:20979174 PMID:21199492 PMID:21477109 PMID:21536674 PMID:22080964 PMID:22211879 PMID:22339828 PMID:23094712 PMID:25741868 PMID:26193622 PMID:26230315 PMID:26808569 PMID:26859482 PMID:27824607 PMID:28102861 PMID:28104920 PMID:28166811 PMID:28492532 PMID:28643950 PMID:28866069 PMID:29483670 PMID:29581185 PMID:29742735 PMID:30523342 PMID:30604317 More...
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 4 |
ClinVar |
PMID:23329068 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 PMID:27128385 PMID:28099038 PMID:28492532 PMID:28930861 More...
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Aars1 |
alanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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Acd |
ACD, shelterin complex subunit and telomerase recruitment factor |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25205116 PMID:25233904 PMID:25505254 PMID:25741868 PMID:27807141 PMID:28492532 PMID:30064976 PMID:31515401 More...
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NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
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Agrp |
agouti related neuropeptide |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,447,992...33,523,068
Ensembl chr19:33,447,992...33,449,584
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Ap1g1 |
adaptor related protein complex 1 subunit gamma 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,744,666...37,831,131
Ensembl chr19:37,744,633...37,829,167
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Atp6v0d1 |
ATPase H+ transporting V0 subunit D1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450
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Atxn1l |
ataxin 1-like |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,700,341...37,711,524
Ensembl chr19:37,700,106...37,711,538
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B3gnt9 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344
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Calb2 |
calbindin 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
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Car7 |
carbonic anhydrase 7 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467
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Carmil2 |
capping protein regulator and myosin 1 linker 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
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Cbfb |
core-binding factor subunit beta |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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Cdh1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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|
G |
Cdh16 |
cadherin 16 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007
|
|
G |
Cdh3 |
cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
|
|
G |
Cenpt |
centromere protein T |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
|
|
G |
Ces2h |
carboxylesterase 2H |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830
|
|
G |
Ces3a |
carboxylesterase 3a |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,992,386...33,000,562
|
|
G |
Ces4a |
carboxylesterase 4A |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545
|
|
G |
Chst4 |
carbohydrate sulfotransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:37,993,471...38,002,123
Ensembl chr19:37,991,417...38,003,608
|
|
G |
Chtf8 |
chromosome transmission fidelity factor 8 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,782,005...34,792,306
Ensembl chr19:34,781,856...34,792,578
|
|
G |
Ciao2b |
cytosolic iron-sulfur assembly component 2B |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068
|
|
G |
Cklf |
chemokine-like factor |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570
|
|
G |
Clec18a |
C-type lectin domain family 18, member A |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,038,498...39,053,425
Ensembl chr19:39,038,273...39,056,017
|
|
G |
Cmtm1 |
CKLF-like MARVEL transmembrane domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184
|
|
G |
Cmtm2a |
CKLF-like MARVEL transmembrane domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:671,719...678,839
Ensembl chr19:671,719...678,837
|
|
G |
Cmtm3 |
CKLF-like MARVEL transmembrane domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790
|
|
G |
Cmtm4 |
CKLF-like MARVEL transmembrane domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109
|
|
G |
Cmtr2 |
cap methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
|
|
G |
Cog4 |
component of oligomeric golgi complex 4 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
|
|
G |
Cog8 |
component of oligomeric golgi complex 8 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
|
|
G |
Ctcf |
CCCTC-binding factor |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
|
|
G |
Ctrl |
chymotrypsin-like |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626
|
|
G |
Cyb5b |
cytochrome b5 type B |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249
|
|
G |
Ddx19a |
DEAD-box helicase 19A |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854
|
|
G |
Ddx19b |
DEAD-box helicase 19B |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259
|
|
G |
Ddx28 |
DEAD-box helicase 28 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742
|
|
G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
|
|
G |
Dhx38 |
DEAH-box helicase 38 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:37,512,891...37,530,140
Ensembl chr19:37,512,891...37,530,140
|
|
G |
Dpep2 |
dipeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954
|
|
G |
Dpep3 |
dipeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896
|
|
G |
Dus2 |
dihydrouridine synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,906,517...33,954,922
Ensembl chr19:33,911,750...33,954,709
|
|
G |
Dync1li2 |
dynein, cytoplasmic 1 light intermediate chain 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670
|
|
G |
E2f4 |
E2F transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806
|
|
G |
Edc4 |
enhancer of mRNA decapping 4 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,774,062...33,786,054
Ensembl chr19:33,774,055...33,787,758
|
|
G |
Elmo3 |
engulfment and cell motility 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410
|
|
G |
Enkd1 |
enkurin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545
|
|
G |
Esrp2 |
epithelial splicing regulatory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
|
|
G |
Exoc3l1 |
exocyst complex component 3-like 1 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486
|
|
G |
Exosc6 |
exosome component 6 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,021,308...39,023,535
Ensembl chr19:39,022,183...39,023,515
|
|
G |
Fbxl8 |
F-box and leucine-rich repeat protein 8 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,142,653...33,147,268
Ensembl chr19:33,142,715...33,147,262
|
|
G |
Fcsk |
fucose kinase |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
|
|
G |
Fhod1 |
formin homology 2 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,206,492...33,225,448
Ensembl chr19:33,206,492...33,225,356
|
|
G |
Gfod2 |
glucose-fructose oxidoreductase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004
|
|
G |
Has3 |
hyaluronan synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
|
|
G |
Hp |
haptoglobin |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
|
|
G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
|
|
G |
Hsf4 |
heat shock transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
|
|
G |
Hydin |
Hydin, axonemal central pair apparatus protein |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
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G |
Il34 |
interleukin 34 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
|
|
G |
Ist1 |
IST1 factor associated with ESCRT-III |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:37,648,840...37,671,019
Ensembl chr19:37,648,095...37,670,956
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G |
Kctd19 |
potassium channel tetramerization domain containing 19 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006
|
|
G |
Lcat |
lecithin cholesterol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
|
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G |
Lrrc29 |
leucine rich repeat containing 29 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545
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G |
Lrrc36 |
leucine rich repeat containing 36 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,292,074...33,342,426
Ensembl chr19:33,292,074...33,360,141
|
|
G |
Marveld3 |
MARVEL domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:37,908,727...37,923,420
Ensembl chr19:37,905,638...37,923,420
|
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G |
MGC116202 |
LOC688736 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,158,053...33,166,784
Ensembl chr19:33,158,056...33,166,445
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G |
Mir140 |
microRNA 140 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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G |
Mir328 |
microRNA 328 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849
|
|
G |
Mtss2 |
MTSS I-BAR domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
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G |
Nae1 |
NEDD8 activating enzyme E1 subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
|
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G |
Nfat5 |
nuclear factor of activated T-cells 5 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,199,737...35,286,675
Ensembl chr19:35,199,016...35,286,675
|
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G |
Nfatc3 |
nuclear factor of activated T-cells 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150
|
|
G |
Nip7 |
nucleolar pre-rRNA processing protein NIP7 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,962,557...34,964,700
Ensembl chr19:34,962,557...34,964,711
|
|
G |
Nob1 |
NIN1 (RPN12) binding protein 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815
|
|
G |
Nol3 |
nucleolar protein 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
|
|
G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
|
|
G |
Nrn1l |
neuritin 1-like |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,786,419...33,787,879
|
|
G |
Nutf2 |
nuclear transport factor 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591
|
|
G |
Pard6a |
par-6 family cell polarity regulator alpha |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,589,583...33,591,900
Ensembl chr19:33,589,542...33,591,900
|
|
G |
Pdf |
peptide deformylase (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
|
|
G |
Pdp2 |
pyruvate dehydrogenase phosphatase catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074
|
|
G |
Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
|
|
G |
Phaf1 |
phagosome assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914
|
|
G |
Phlpp2 |
PH domain and leucine rich repeat protein phosphatase 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:37,835,125...37,901,804
Ensembl chr19:37,835,125...37,905,513
|
|
G |
Pkd1l3 |
polycystin 1 like 3, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,585,564...37,650,083
Ensembl chr19:37,585,725...37,650,155
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G |
Pla2g15 |
phospholipase A2, group XV |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063
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G |
Plekhg4 |
pleckstrin homology and RhoGEF domain containing G4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357
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G |
Prmt7 |
protein arginine methyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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G |
Pskh1 |
protein serine kinase H1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,794,919...33,827,040
Ensembl chr19:33,794,935...33,827,032
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G |
Psmb10 |
proteasome 20S subunit beta 10 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
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G |
Ranbp10 |
RAN binding protein 10 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
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G |
RGD1561415 |
RGD1561415 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521
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G |
Ripor1 |
RHO family interacting cell polarization regulator 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,477,750...33,506,424
Ensembl chr19:33,477,793...33,506,420
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G |
Rrad |
RRAD, Ras related glycolysis inhibitor and calcium channel regulator |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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G |
Sf3b3 |
splicing factor 3b, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245
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G |
Slc12a4 |
solute carrier family 12 member 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331
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G |
Slc7a6 |
solute carrier family 7 member 6 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268
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G |
Slc7a6os |
solute carrier family 7, member 6 opposite strand |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651
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G |
Slc9a5 |
solute carrier family 9 member A5 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903
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G |
Smpd3 |
sphingomyelin phosphodiesterase 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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G |
Sntb2 |
syntrophin, beta 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,831,657...34,922,325
Ensembl chr19:34,831,584...34,914,113
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G |
St3gal2 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869
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G |
Tango6 |
transport and golgi organization 6 homolog |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639
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G |
Tat |
tyrosine aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
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G |
Terb1 |
telomere repeat binding bouquet formation protein 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
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G |
Terf2 |
telomeric repeat binding factor 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
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G |
Thap11 |
THAP domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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G |
Tk2 |
thymidine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Tmed6 |
transmembrane p24 trafficking protein 6 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,966,813...34,972,900
Ensembl chr19:34,966,813...34,972,900
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G |
Tmem208 |
transmembrane protein 208 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,203,587...33,206,287
Ensembl chr19:33,203,587...33,212,183
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G |
Tppp3 |
tubulin polymerization-promoting protein family member 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,345,897...33,349,610
Ensembl chr19:33,345,898...33,349,577
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G |
Tradd |
TNFRSF1A-associated via death domain |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
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G |
Tsnaxip1 |
translin-associated factor X interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,716,834...33,734,824
Ensembl chr19:33,716,785...33,734,824
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G |
Txnl4b |
thioredoxin-like 4B |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,530,157...37,539,827
Ensembl chr19:37,530,152...37,538,521
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G |
Utp4 |
UTP4 small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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G |
Vac14 |
VAC14 component of PIKFYVE complex |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
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G |
Vps4a |
vacuolar protein sorting 4 homolog A |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,934,999...34,948,267
Ensembl chr19:34,934,961...34,948,887
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G |
Wwp2 |
WW domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
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G |
Zdhhc1 |
zinc finger, DHHC-type containing 1 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,350,533...33,375,717
Ensembl chr19:33,350,533...33,375,616
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G |
Zfp612 |
zinc finger protein 612 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,053,953...38,071,196
Ensembl chr19:38,053,967...38,067,455
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G |
Zfp821 |
zinc finger protein 821 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,679,937...37,698,831
Ensembl chr19:37,680,628...37,698,831
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G |
Zfp90 |
zinc finger protein 90 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,321,980...34,333,195
Ensembl chr19:34,321,940...34,333,194
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant |
OMIM ClinVar |
PMID:1680286 PMID:2653224 PMID:7577595 PMID:7695699 PMID:7861014 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8755915 PMID:9347800 PMID:9536098 PMID:9668111 PMID:9856844 PMID:9892921 PMID:10084325 PMID:10408773 PMID:10469344 PMID:10504458 PMID:11781296 PMID:11874498 PMID:12485454 PMID:12735646 PMID:12787275 PMID:15888141 PMID:16484981 PMID:16557343 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17576681 PMID:19344236 PMID:19681861 PMID:20598510 PMID:22058051 PMID:22266148 PMID:24033266 PMID:24794830 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 More...
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
p.S17F(mouse) ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant DNA:mutation:cds:p.D50N (human) p.G45E(mouse) DNA:mutation:cds:p.N14K(human) DNA:mutations:cds:p.G11E,p.D50N(human) |
ClinVar OMIM RGD |
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12072059 PMID:12081719 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12384501 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15769851 PMID:15832357 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16532460 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17444514 PMID:17485979 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18294064 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19586875 PMID:19587431 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20412116 PMID:20497192 PMID:20563649 PMID:20650534 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20981092 PMID:21056478 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21287563 PMID:21292415 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21776002 PMID:21811586 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22281373 PMID:22429511 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24346070 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25575739 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26346709 PMID:26381000 PMID:26399936 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26542351 PMID:26553399 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27057829 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27398341 PMID:27481527 PMID:27623246 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28271504 PMID:28489599 PMID:28492532 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29362677 PMID:29501291 PMID:29773520 PMID:29921236 PMID:29926981 PMID:30094485 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30466042 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31346875 PMID:31370293 PMID:31562289 PMID:31569309 PMID:31620164 PMID:31620696 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33333757 PMID:33524517 PMID:34008892 PMID:34440441 PMID:115556849 PMID:163800907 PMID:20926451 PMID:23924173 PMID:22031297 PMID:18950394 PMID:20307501 More...
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RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 |
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Abca12 |
ATP binding cassette subfamily A member 12 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin |
ClinVar |
PMID:15756637 PMID:17508018 PMID:19262603 PMID:20849526 PMID:25741868 PMID:28492532 More...
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NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:16116617 PMID:18347291 PMID:19131948 PMID:19890349 PMID:23621129 PMID:24033266 PMID:25741868 PMID:27025581 PMID:28492532 PMID:31168818 PMID:31642606 PMID:34008892 More...
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:11398099 PMID:16116617 PMID:19131948 PMID:19890349 PMID:22622417 PMID:24033266 PMID:25741868 PMID:25998749 PMID:26370990 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29130490 PMID:29935003 More...
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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G |
Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:16436457 PMID:25741868 PMID:26056268 PMID:26646773 PMID:28492532 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33786896 More...
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NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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G |
Ebp |
EBP, cholestenol delta-isomerase |
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ISO |
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RGD |
PMID:12668600 |
RGD:2316868 |
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P |
RGD |
PMID:9195225 |
RGD:1601069 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Nipal4 |
NIPA-like domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:33786896 More...
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NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
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RGD |
PMID:12668600 |
RGD:2316868 |
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Pnpla1 |
patatin-like phospholipase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma |
ClinVar |
PMID:3757302 PMID:24344921 PMID:26691440 PMID:26778108 PMID:28369476 PMID:28403545 More...
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NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
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G |
Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosis of skin |
ClinVar |
PMID:25741868 |
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NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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Slc27a4 |
solute carrier family 27 member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis |
ClinVar |
PMID:19631310 PMID:21450060 PMID:22927265 PMID:26783444 PMID:27025581 PMID:28492532 More...
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NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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G |
Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:7581379 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9448282 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10482949 PMID:10914678 PMID:11407995 PMID:11511296 PMID:16968736 PMID:18948357 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19863506 PMID:19890349 PMID:20167857 PMID:20663883 PMID:21895619 PMID:22258055 PMID:22801880 PMID:23096117 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:25154629 PMID:25525159 PMID:25741868 PMID:26076875 PMID:26594337 PMID:26762237 PMID:27025581 PMID:28403434 PMID:28492532 PMID:30578701 PMID:30693114 PMID:31046801 PMID:31631373 PMID:32597326 More...
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NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Ugcg |
UDP-glucose ceramide glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma |
ClinVar |
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NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
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Abca12 |
ATP binding cassette subfamily A member 12 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16675967 PMID:12915478 |
RGD:1598548 |
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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G |
Abhd5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
susceptibility |
ISO |
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RGD |
PMID:11590543 |
RGD:1598668 |
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21739938 |
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21739938 PMID:11773004 |
RGD:1599073 |
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Sult2b1 |
sulfotransferase family 2B member 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 |
ClinVar |
PMID:28575648 |
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NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 |
ClinVar OMIM RGD |
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9448282 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10232404 PMID:10482949 PMID:10694685 PMID:10886517 PMID:10914678 PMID:11251583 PMID:11298529 PMID:11348475 PMID:11407995 PMID:11511296 PMID:12535215 PMID:12542526 PMID:14996130 PMID:16133457 PMID:16199547 PMID:16280294 PMID:16908342 PMID:16968736 PMID:16977323 PMID:17635512 PMID:18669893 PMID:18948357 PMID:19156839 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19278426 PMID:19500103 PMID:19863506 PMID:19890349 PMID:20021785 PMID:20137757 PMID:20167857 PMID:20522418 PMID:20663883 PMID:21199492 PMID:21668430 PMID:21895619 PMID:22211879 PMID:22258055 PMID:22311480 PMID:22437313 PMID:22511925 PMID:22622417 PMID:22801880 PMID:22992804 PMID:23096117 PMID:23192619 PMID:23278109 PMID:23621129 PMID:23689228 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:24824130 PMID:25154629 PMID:25525159 PMID:25741868 PMID:25766764 PMID:25998749 PMID:26076875 PMID:26220141 PMID:26594337 PMID:26620441 PMID:26762237 PMID:26990434 PMID:27025581 PMID:27442430 PMID:28403434 PMID:28488422 PMID:28492532 PMID:30578701 PMID:30600594 PMID:30693114 PMID:30950025 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32573669 PMID:32597326 PMID:34782754 PMID:7824952 More...
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RGD:1599417 |
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 |
ClinVar |
PMID:18669893 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 |
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Pnpla1 |
patatin-like phospholipase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 |
OMIM ClinVar |
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 PMID:25741868 PMID:26424960 PMID:26691440 PMID:26778108 PMID:27884173 PMID:27884779 PMID:28369476 PMID:28403545 PMID:28492532 PMID:30409984 PMID:33727708 More...
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NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
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St14 |
ST14 transmembrane serine protease matriptase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 PMID:25741868 PMID:28492532 PMID:29611532 More...
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NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Casp14 |
caspase 14 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 |
OMIM ClinVar |
PMID:25741868 PMID:27494380 PMID:28492532 |
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NCBI chr 7:10,929,759...10,932,591
Ensembl chr 7:10,926,725...10,933,405
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G |
Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 |
OMIM ClinVar |
PMID:25741868 PMID:28173123 PMID:28369735 |
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NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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Sult2b1 |
sulfotransferase family 2B member 1 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 |
OMIM ClinVar |
PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648 |
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NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 |
OMIM ClinVar |
PMID:11773004 PMID:16116617 PMID:17139268 PMID:18347291 PMID:18414213 PMID:19131948 PMID:19890349 PMID:20222929 PMID:22622417 PMID:23083690 PMID:23621129 PMID:24033266 PMID:25524567 PMID:25741868 PMID:25998749 PMID:26762237 PMID:27025581 PMID:28492532 PMID:31046801 PMID:31168818 PMID:31642606 PMID:34008892 More...
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 |
CTD ClinVar |
PMID:25741868 PMID:30578701 |
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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G |
Sult2b1 |
sulfotransferase family 2B member 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 |
ClinVar |
PMID:17496163 PMID:28575648 |
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NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 |
OMIM ClinVar |
PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 PMID:19131948 PMID:19890349 PMID:21668430 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26370990 PMID:26762237 PMID:27025581 PMID:28492532 PMID:30578701 PMID:32978145 More...
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Gucy2d |
guanylate cyclase 2D, retinal |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 |
ClinVar |
PMID:24824130 |
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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Abca12 |
ATP binding cassette subfamily A member 12 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A |
OMIM ClinVar |
PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:19664001 PMID:22257947 PMID:23528209 PMID:25741868 PMID:28295493 PMID:28492532 PMID:30600594 PMID:30916489 More...
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NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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G |
Abca12 |
ATP binding cassette subfamily A member 12 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B |
OMIM ClinVar |
PMID:15756637 PMID:16902423 PMID:19664001 PMID:25741868 PMID:28492532 PMID:30916489 PMID:34906502 More...
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NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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Cst6 |
cystatin E/M |
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ISS |
OMIM:242500 |
MouseDO |
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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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Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISS |
OMIM:242500 |
MouseDO |
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NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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G |
Prss8 |
serine protease 8 |
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ISS |
OMIM:242500 |
MouseDO |
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NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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G |
Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 |
OMIM ClinVar |
PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 PMID:24397709 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:26762237 PMID:27025581 PMID:27449533 PMID:27735052 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33223529 PMID:33786896 More...
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NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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G |
Nipal4 |
NIPA-like domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 |
OMIM ClinVar |
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:28492532 PMID:33786896 More...
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NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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Lipn |
lipase, family member N |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
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Cers3 |
ceramide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 |
OMIM ClinVar |
PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532 |
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NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive |
ClinVar |
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Nhp2 |
NHP2 ribonucleoprotein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545
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G |
Nop10 |
NOP10 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive |
ClinVar |
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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Slc12a6 |
solute carrier family 12, member 6 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive |
ClinVar |
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NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Wrap53 |
WD repeat containing, antisense to TP53 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive DNA:mutations:exons: |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:21205863 |
RGD:21081678 |
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Actc1 |
actin, alpha, cardiac muscle 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Gjd2 |
gap junction protein, delta 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061
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G |
Lpcat4 |
lysophosphatidylcholine acyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875
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G |
Nhp2 |
NHP2 ribonucleoprotein |
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ISO ISS |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 OMIM:224230 |
ClinVar MouseDO |
PMID:18523010 |
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NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545
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G |
Nop10 |
NOP10 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 |
OMIM ClinVar |
PMID:17507419 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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G |
Nutm1 |
NUT midline carcinoma, family member 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311
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G |
Rmnd5b |
required for meiotic nuclear division 5 homolog B |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 |
ClinVar |
PMID:18523010 |
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NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
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G |
Slc12a6 |
solute carrier family 12, member 6 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 |
ClinVar |
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NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 |
ClinVar |
PMID:17785587 PMID:25741868 PMID:26887940 PMID:28192371 PMID:28492532 |
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Nhp2 |
NHP2 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 |
OMIM ClinVar |
PMID:18523010 PMID:25741868 PMID:28492532 |
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NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545
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Rmnd5b |
required for meiotic nuclear division 5 homolog B |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 |
ClinVar |
PMID:18523010 PMID:25741868 PMID:28492532 |
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NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 |
ClinVar |
PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Wrap53 |
WD repeat containing, antisense to TP53 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 |
OMIM ClinVar |
PMID:17683073 PMID:21205863 PMID:24033266 PMID:25741868 PMID:26822237 PMID:28125078 PMID:28492532 More...
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NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 |
ClinVar |
PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:21258621 PMID:21602826 PMID:23901009 PMID:24033266 PMID:25365545 PMID:25741868 PMID:26887940 PMID:27418648 PMID:28192371 PMID:28492532 PMID:30523342 More...
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Arfrp1 |
ADP-ribosylation factor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
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NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
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Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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Fndc11 |
fibronectin type III domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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Helz2 |
helicase with zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Ppdpf |
pancreatic progenitor cell differentiation and proliferation factor |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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Ptk6 |
protein tyrosine kinase 6 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
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Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23329068 PMID:23453664 PMID:23591994 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25182133 PMID:25607374 PMID:25620558 PMID:25640679 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26808564 PMID:26847928 PMID:27128385 PMID:27415407 PMID:27418648 PMID:27540018 PMID:27824607 PMID:28099038 PMID:28188499 PMID:28192371 PMID:28492532 PMID:28507545 PMID:28930861 PMID:29344583 PMID:29361909 PMID:30523160 PMID:30523342 More...
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Srms |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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Stmn3 |
stathmin 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 |
ClinVar |
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 |
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NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
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Parn |
poly(A)-specific ribonuclease |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 |
OMIM ClinVar |
PMID:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 PMID:25848748 PMID:25893599 PMID:26342108 PMID:26482878 PMID:26810774 PMID:28099038 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:30523342 PMID:30525901 PMID:31268371 PMID:31448843 PMID:34298581 More...
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NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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Acd |
ACD, shelterin complex subunit and telomerase recruitment factor |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 |
ClinVar |
PMID:25205116 PMID:25233904 PMID:27807141 PMID:28492532 PMID:31515401 |
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NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
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Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Barber-Say syndrome |
OMIM ClinVar |
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 PMID:20799330 PMID:20830793 PMID:25741868 PMID:26119818 PMID:27092433 PMID:28680619 More...
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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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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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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16158432 PMID:16440883 PMID:16531735 PMID:16838304 PMID:17264867 PMID:17449949 PMID:17525745 PMID:18247426 PMID:18552176 PMID:19610084 PMID:20301628 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28166811 PMID:28492532 PMID:31145570 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Foxl2 |
forkhead box L2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
CTD ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 More...
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NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Foxl2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:18372316 PMID:21325395 PMID:25741868 More...
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NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Copb2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Foxl2 |
forkhead box L2 |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:19429596 PMID:25741868 PMID:28492532 PMID:11175783 More...
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RGD:1598958 |
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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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:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28492532 PMID:28758091 PMID:30353918 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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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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Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Incontinentia pigmenti syndrome DNA:deletion:exons: |
ClinVar OMIM RGD |
PMID:8169255 PMID:9450877 PMID:10839543 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:18350553 PMID:20412081 PMID:20499091 PMID:25741868 PMID:27368913 PMID:30422821 PMID:31965418 PMID:10839543 PMID:15833158 More...
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RGD:1600008, RGD:12791266 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISS |
OMIM:308300 |
MouseDO |
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 PMID:28492532 PMID:29228253 PMID:33739556 PMID:33816482 More...
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NCBI chr19:50,282,434...50,324,010
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Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 |
OMIM ClinVar |
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Krt2 |
keratin 2 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens |
OMIM ClinVar |
PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:9204966 PMID:9804344 PMID:10233323 PMID:10620137 PMID:11531804 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:132,941,275...132,947,963
Ensembl chr 7:132,940,862...132,947,963
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C1qa |
complement C1q A chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
OMIM ClinVar |
PMID:7594474 PMID:8840296 PMID:9225968 PMID:21654842 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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C1qb |
complement C1q B chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
OMIM ClinVar |
PMID:2894352 PMID:17513176 PMID:21654842 PMID:24160257 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
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C1qc |
complement C1q C chain |
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ISO |
ClinVar Annotator: match by term: C1Q deficiency |
OMIM ClinVar |
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
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NCBI chr 5:149,127,424...149,130,732
Ensembl chr 5:149,127,415...149,131,017
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Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 PMID:23687085 |