RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Genetic Skin Diseases |
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Accession: | DOID:9007168
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browse the term
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Definition: | Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. |
Synonyms: | exact_synonym: | Genetic Skin Disease |
| primary_id: | MESH:D012873 |
| alt_id: | RDO:0001013 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Krt13 |
keratin 13 |
susceptibility |
ISO |
DNA:missense mutation: ; white sponge nevus, OMIM:193900 |
RGD |
PMID:7493031 |
RGD:1304472 |
NCBI chr10:85,052,122...85,056,032
Ensembl chr10:85,051,889...85,056,084
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Krt4 |
keratin 4 |
susceptibility |
ISO |
DNA:deletion: ; white sponge nevus, OMIM:193900 |
RGD |
PMID:7493030 |
RGD:1600193 |
NCBI chr 7:133,046,067...133,052,027
Ensembl chr 7:133,046,515...133,052,019
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:Polymorphism: :HLA-DRB1*14(human) |
RGD |
PMID:11369906 |
RGD:7365088 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency |
ClinVar |
PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 |
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NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Alas2 |
5'-aminolevulinate synthase 2 |
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ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:23650938 |
RGD:18337288 |
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Cpox |
coproporphyrinogen oxidase |
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ISO |
ClinVar Annotator: match by term: Acute intermittent porphyria |
ClinVar |
PMID:28492532 |
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NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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Hmbs |
hydroxymethylbilane synthase |
severity treatment susceptibility |
ISO |
ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type DNA:mutations:multiple DNA:mutations:multiple DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human) DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse) DNA:missense mutation:exon 10: p.R173W (173C>T) (human) human mRNA in a mouse model DNA:deletion:exon 12:669-698del (p.E223_L232del) (human) DNA:SNPs, deletion, haplotype:multiple DNA:missense mutation:cds: p.V215M (human) human gene in a mouse model DNA:SNPs, haplotype:multiple DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human) DNA:transversion:intron:IVS11-3C>G (human) DNA:missense mutation:cd: p.A330P (human) CTD Direct Evidence: marker/mechanism DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human) |
ClinVar CTD OMIM RGD |
PMID:1301948 PMID:1427766 PMID:1496994 PMID:1577472 PMID:1714233 PMID:1961762 PMID:2025226 PMID:2227955 PMID:2243128 PMID:2789372 PMID:2864531 PMID:6132132 PMID:6985467 PMID:7635464 PMID:7757070 PMID:7962538 PMID:8081367 PMID:8096492 PMID:8262514 PMID:8262523 PMID:8268934 PMID:8270254 PMID:8270256 PMID:8401516 PMID:8772850 PMID:9199558 PMID:9225970 PMID:9281416 PMID:9536098 PMID:10408772 PMID:10494093 PMID:10502788 PMID:11055586 PMID:11399210 PMID:11831862 PMID:11857754 PMID:12357456 PMID:12372055 PMID:12566739 PMID:12773194 PMID:14970743 PMID:15003823 PMID:15469427 PMID:15534187 PMID:15643298 PMID:16199547 PMID:16211556 PMID:16817012 PMID:17298217 PMID:17576681 PMID:18414213 PMID:18627369 PMID:19138865 PMID:19267997 PMID:19292878 PMID:19460837 PMID:19656453 PMID:19694018 PMID:20978940 PMID:23815679 PMID:24997713 PMID:25016127 PMID:25118551 PMID:25637381 PMID:25741868 PMID:26075277 PMID:26095755 PMID:26582343 PMID:27507172 PMID:27539938 PMID:27558376 PMID:27849156 PMID:27884173 PMID:28166811 PMID:28492532 PMID:29360981 PMID:31073229 PMID:32581362 PMID:8563760 PMID:24997713 PMID:30385147 PMID:8270256 PMID:30615115 PMID:26071363 PMID:10453740 PMID:9455613 PMID:30297912 PMID:15469427 PMID:14757946 PMID:19138865 PMID:19656452 PMID:28990424 PMID:19656453 PMID:9523350 PMID:10667475 PMID:25870942 PMID:19664584 PMID:9860299 More...
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RGD:4145271, RGD:19165346, RGD:21079461, RGD:19165358, RGD:21079460, RGD:21079459, RGD:21079458, RGD:21079457, RGD:21079456, RGD:21079455, RGD:21079454, RGD:21079453, RGD:19165351, RGD:21079452, RGD:19165352, RGD:19165353, RGD:21079451, RGD:21079450, RGD:21079449, RGD:4144787 |
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Ppox |
protoporphyrinogen oxidase |
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ISO |
DNA:missense mutation:exon:p.R59W (mouse) |
RGD |
PMID:11929050 |
RGD:4145363 |
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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Hmbs |
hydroxymethylbilane synthase |
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ISO |
ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant |
ClinVar |
PMID:2511016 PMID:2563167 PMID:2915972 PMID:7962538 PMID:9199558 PMID:9860299 PMID:10343207 PMID:11071386 PMID:12406973 PMID:27539938 PMID:28492532 More...
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NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
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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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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Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
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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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Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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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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Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
OMIM ClinVar |
PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29924900 More...
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NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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Dock6 |
dedicator of cytokinesis 6 |
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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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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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Notch1 |
notch receptor 1 |
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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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Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 3 |
OMIM ClinVar |
PMID:22883147 PMID: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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Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
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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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Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
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Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
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Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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Inpp5e |
inositol polyphosphate-5-phosphatase E |
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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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Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
OMIM ClinVar |
PMID:1621771 PMID:9536098 PMID:15959515 PMID:16025100 PMID:16199547 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19597493 PMID:20007775 PMID: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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Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID: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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Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 6 |
OMIM ClinVar |
PMID:616589 PMID:25741868 PMID:26299364 PMID: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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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: Adermatoglyphia |
OMIM ClinVar |
PMID:10631162 PMID:20619487 PMID:21820097 PMID:24909267 PMID:25741868 PMID:26932190 PMID:29409814 More...
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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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Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome |
OMIM ClinVar |
PMID:8456838 PMID:8737655 PMID:9443880 PMID: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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Alad |
aminolevulinate dehydratase |
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ISO |
ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic |
OMIM ClinVar |
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 PMID:3684400 PMID:9536098 PMID:10519994 PMID:11071662 PMID:11342419 PMID:15303011 PMID:16398658 PMID:17236137 PMID:17576681 PMID:19015748 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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G6pd |
glucose-6-phosphate dehydrogenase |
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IEP |
protein:increased expression:liver |
RGD |
PMID:23390166 |
RGD:10449130 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
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NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II DNA:deletion:exon: |
OMIM ClinVar RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22194652 PMID:24124559 PMID:25741868 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:30718709 PMID:17525176 More...
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RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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Whrn |
whirlin |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:28492532 PMID:30718709 |
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NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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Dct |
dopachrome tautomerase |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:33100333 |
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NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
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Gpr143 |
G protein-coupled receptor 143 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8634705 PMID:28041643 |
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NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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Oca2 |
OCA2 melanosomal transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 PMID:28492532 PMID:28976636 PMID:29345414 More...
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NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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G |
Tyr |
tyrosinase |
treatment |
ISO IMP |
DNA:missense mutation:cds:p.H420R(mouse) ClinVar Annotator: match by term: Albinism |
ClinVar RGD |
PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1970634 PMID:2903492 PMID:7704033 PMID:7849740 PMID:8434585 PMID:9158138 PMID:9163730 PMID:10766867 PMID:10987646 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:16517127 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:27734839 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:29345414 PMID:33223529 PMID:34008892 PMID:2567165 PMID:23409244 PMID:2112453 More...
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RGD:8694353, RGD:12792973, RGD:8694355 |
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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G |
Tyrem1Kyo |
tyrosinase; TALEN induced mutant1, Kyo |
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IMP |
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RGD |
PMID:23409244 |
RGD:12792973 |
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G |
Tyrp1 |
tyrosinase-related protein 1 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 PMID:28492532 More...
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NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 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 |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
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ISO |
DNA:missense mutation:CDS:p.D203A (human) |
RGD |
PMID:22943132 |
RGD:42722010 |
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
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ISS |
OMIM:208050 |
MouseDO |
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NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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G |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity syndrome |
OMIM ClinVar |
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 PMID:17163528 PMID:17576681 PMID:17935213 PMID:18565096 PMID:18774132 PMID:18818946 PMID:19028722 PMID:19622975 PMID:19781076 PMID:22488877 PMID:23142374 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25373504 PMID:25741868 PMID:25944730 PMID:26376865 PMID:28492532 PMID:28726533 PMID:28855619 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 More...
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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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 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:28492532 PMID:32815859 |
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Ift140 |
intraflagellar transport 140 |
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ISS |
OMIM:208500 |
MouseDO |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
CTD ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 |
OMIM ClinVar |
PMID: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 | ClinVar Annotator: match by term: Louis-Bar syndrome 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 |
|
IMP |
|
RGD |
PMID:28007901 |
RGD:12879399 |
|
|
G |
Bak1 |
BCL2-antagonist/killer 1 |
|
ISO |
DNA:mutation:exon:c.342C>T(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
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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
|
|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 PMID:19206169 PMID:22495831 PMID:24446311 PMID:24920063 PMID:25157968 PMID: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
|
|
G |
Btg4 |
BTG anti-proliferation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
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|
G |
Casp1 |
caspase 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
|
|
G |
Casp4 |
caspase 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
|
|
G |
Cep57 |
centrosomal protein 57 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
|
|
G |
Cfap300 |
cilia and flagella associated protein 300 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
|
|
G |
Cntn5 |
contactin 5 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
|
|
G |
Cryab |
crystallin, alpha B |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
|
|
G |
Cwc15 |
CWC15 spliceosome-associated protein |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
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 |
|
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 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
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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 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
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Fam76b |
family with sequence similarity 76, member B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861
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Fdx1 |
ferredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
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Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
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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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Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
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Gucy1a2 |
guanylate cyclase 1 soluble subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
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Hdac4 |
histone deacetylase 4 |
treatment |
ISO |
protein:altered localization:nucleus: |
RGD |
PMID:22466704 PMID:22466704 PMID:22466704 |
RGD:9681455, RGD:9681455, RGD:9681455 |
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hoatz |
HOATZ cilia and flagella associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
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G |
Hspb2 |
heat shock protein family B (small) member 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
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Ifng |
interferon gamma |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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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Il6 |
interleukin 6 |
severity |
ISO |
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RGD |
PMID:26851119 |
RGD:11529801 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Jrkl |
JRK-like |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068
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Kbtbd3 |
kelch repeat and BTB domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
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Kdm4d |
lysine demethylase 4D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
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G |
Layn |
layilin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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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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LOC689959 |
hypothetical protein LOC689959 |
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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 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
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G |
Mir34b |
microRNA 34b |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
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Mir34c |
microRNA 34c |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp12 |
matrix metallopeptidase 12 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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G |
Mmp27 |
matrix metallopeptidase 27 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp8 |
matrix metallopeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Msantd4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
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G |
Mtmr2 |
myotubularin related protein 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
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G |
Nkapd1 |
NKAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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G |
Npat |
nuclear protein, co-activator of histone transcription |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
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G |
Pdgfd |
platelet derived growth factor D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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G |
Pgr |
progesterone receptor |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
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G |
Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Piwil4 |
piwi-like RNA-mediated gene silencing 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
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G |
Poglut3 |
protein O-glucosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
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G |
Rab39a |
RAB39A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
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G |
Rdx |
radixin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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G |
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 |
RGD1562914 |
RGD1562914 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
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G |
RGD1564937 |
similar to RIKEN cDNA 1110032A03 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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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 |
|
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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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Pik3r5 |
phosphoinositide-3-kinase, regulatory subunit 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 |
OMIM ClinVar |
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 |
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NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
|
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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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID: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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G |
RGD1311251 |
similar to RIKEN cDNA 4930550C14 |
|
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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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 |
OMIM ClinVar |
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:15574463 PMID:16199547 PMID:16858402 PMID:18652530 PMID:18854157 PMID:19383352 PMID: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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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 |
OMIM ClinVar |
PMID:24911150 PMID:25741868 |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Actl9 |
actin-like 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
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G |
Adam17 |
ADAM metallopeptidase domain 17 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Apoe |
apolipoprotein E |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:19116453 |
RGD:11040546 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Artn |
artemin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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G |
Bdnf |
brain-derived neurotrophic factor |
susceptibility no_association |
ISO |
DNA:polymorphism::C270T(human) protein:increased expression:serum: DNA:polymorphism:cds:p.V66M(human) mRNA:decreased expression:mast cell |
RGD |
PMID:19522715 PMID:17073871 PMID:19038326 PMID:17845420 |
RGD:8657028, RGD:8657069, RGD:8657067, RGD:8657065 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
C3 |
complement C3 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:3923750 |
RGD:7401273 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Card11 |
caspase recruitment domain family, member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 PMID:28628108 |
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NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
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G |
Casp8 |
caspase 8 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Ccdc80 |
coiled-coil domain containing 80 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr11:55,685,165...55,718,827
Ensembl chr11:55,685,872...55,719,137
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
severity treatment |
ISO |
protein:increased expression:plasma |
RGD |
PMID:11133838 PMID:19162238 |
RGD:7483580, RGD:7483583 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 PMID:22125604 |
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NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl24 |
C-C motif chemokine ligand 24 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:14616792 |
RGD:11087554 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
|
RGD |
PMID:12642842 |
RGD:1626250 |
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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|
G |
Ccl28 |
C-C motif chemokine ligand 28 |
severity |
ISO |
associated with Asthma; protein: increased secretion:serum (human) |
RGD |
PMID:20161852 |
RGD:4892193 |
NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
protein:increased expression:skin,monocyte: |
RGD |
PMID:15370700 |
RGD:8661734 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
protein:increased expression:skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:16449815 |
RGD:6893391 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:16449815 |
RGD:6893391 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:18693155 |
RGD:5132274 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cdsn |
corneodesmosin |
|
ISO |
protein:decreased expression:skin of body (human) |
RGD |
PMID:21211653 |
RGD:42721970 |
NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
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G |
Cldn1 |
claudin 1 |
|
ISO |
mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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G |
Cldn23 |
claudin 23 |
|
ISO |
mRNA:decreased expression:epidermis: |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr16:56,413,677...56,415,401
Ensembl chr16:56,413,381...56,415,523
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G |
Cma1 |
chymase 1 |
|
ISO |
DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) |
RGD |
PMID:16134991 |
RGD:1625394 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) mRNA:increased expression:blood: |
RGD |
PMID:16445777 PMID:22357516 |
RGD:7411698, RGD:7411700 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctse |
cathepsin E |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15131578 |
RGD:9491761 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
protein:decreased expression:blood, leukocyte |
RGD |
PMID:24821910 PMID:15131578 |
RGD:9491393, RGD:9491761 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
|
ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
PMID:25741868 |
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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 |
Dock8 |
dedicator of cytokinesis 8 |
|
ISO |
DNA:mutations:cds: |
RGD |
PMID:22476911 |
RGD:40903056 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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G |
Emsy |
EMSY transcriptional repressor, BRCA2 interacting |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 1:152,881,485...152,960,420
Ensembl chr 1:152,883,992...152,953,528
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G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Fcgr2a |
Fc gamma receptor 2A |
severity |
ISO |
protein:increased expression:eosinophil |
RGD |
PMID:7564170 PMID:19414806 |
RGD:5147985, RGD:5508430 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Flg |
filaggrin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atopic eczema |
CTD ClinVar |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 PMID:17657246 PMID:18325573 PMID:19349982 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22995991 PMID:23039796 PMID:23042114 PMID:23166590 PMID:23343419 PMID:23348739 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24061166 PMID:24251354 PMID:24920311 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31637781 More...
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NCBI chr 2:178,888,688...178,912,731
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G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:21176116 PMID:20674822 |
RGD:5490539, RGD:5490981 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:19842992 PMID:20674822 |
RGD:5490540, RGD:5490981 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
DNA:deletion, haplotype: : |
RGD |
PMID:19842992 |
RGD:5490540 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
|
RGD |
PMID:16159638 |
RGD:5128852 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Hnmt |
histamine N-methyltransferase |
|
ISO |
|
RGD |
PMID:19025430 |
RGD:5128889 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:22101570 |
RGD:8157618 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ifnl3 |
interferon, lambda 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
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NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:23843958 |
RGD:7364805 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
severity treatment |
ISO |
DNA:SNPs: :rs3091307, rs20541 (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:4257G>A (human) DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) |
CTD RGD |
PMID:18249437 PMID:22355542 PMID:21913997 PMID:16672002 PMID:17313488 PMID:19006098 PMID:10887320 PMID:23317483 More...
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RGD:5684364, RGD:8549583, RGD:8549539, RGD:8549531, RGD:8549529, RGD:8549509 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
|
ISO |
mRNA:increased expression:skin |
RGD |
PMID:14527737 |
RGD:8549525 |
NCBI chr X:115,348,860...115,408,682
Ensembl chr X:115,348,860...115,408,681
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 PMID:20971924 |
RGD:8549521, RGD:8549556 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il17a |
interleukin 17A |
treatment severity |
ISO |
protein:increased expression:dermis, lymphocyte (human) protein:increased expression:epidermis (mouse) |
RGD |
PMID:24337738 PMID:18432274 PMID:22848348 |
RGD:8698670, RGD:9068436, RGD:9068417 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
severity no_association |
ISO ISS |
protein:increased expression:serum OMIM:603165 DNA:SNP:promoter:-140C>G (rs360721) (human) DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) |
MouseDO RGD |
PMID:15317323 PMID:22840759 PMID:22840759 PMID:11490156 PMID:17517100 |
RGD:8655872, RGD:8655914, RGD:8655914, RGD:8655908, RGD:8655876 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
associated with food hypersensitivity; protein:increased expression:CD8+ T cell: DNA:SNP:promoter:rs2069762(human) |
RGD |
PMID:7547077 PMID:1673687 PMID:16672002 PMID:16333313 PMID:21982597 |
RGD:8662961, RGD:8693325, RGD:8549583, RGD:8663473, RGD:8663444 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il21r |
interleukin 21 receptor |
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ISO |
protein:increased expression:skin |
RGD |
PMID:19075398 PMID:19075398 |
RGD:6892938, RGD:6892938 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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G |
Il25 |
interleukin 25 |
|
ISO |
protein:increased expression:arm skin |
RGD |
PMID:23657503 |
RGD:39128244 |
NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
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G |
Il31 |
interleukin 31 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr12:33,095,108...33,105,026
Ensembl chr12:33,092,097...33,105,037
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G |
Il33 |
interleukin 33 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
|
ISO |
DNA:SNP:promoter:-590C>T (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 |
RGD:7829786 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il4r |
interleukin 4 receptor |
susceptibility |
ISO |
DNA:mutation:cds:p.Q576R(human) |
RGD |
PMID:9392697 |
RGD:11530001 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Il5 |
interleukin 5 |
|
ISO |
mRNA: increased expression: skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11886533 PMID:18249437 PMID:22299064 |
RGD:5687175 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
|
ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
|
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NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24046278 |
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NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms:promoter, exon: |
RGD |
PMID:20642202 |
RGD:8693720 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
protein: increased expression: skin |
RGD |
PMID:19889022 |
RGD:5687321 |
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:27776525 |
RGD:13204759 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Ms4a2 |
membrane spanning 4-domains A2 |
susceptibility |
ISO |
Atopy and bronchial hyperresponsiveness, OMIM:147050 Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G |
RGD |
PMID:8817330 PMID:8817330 |
RGD:1599903, RGD:1599903 |
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms: :481C>T, 590G>A(human) DNA:polymorphisms: :481C>T,590G>A,857G>A(human) |
RGD |
PMID:16224574 PMID:14528063 |
RGD:8552664, RGD:8552668 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nfkbia |
NFKB inhibitor alpha |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Nfkbiz |
NFKB inhibitor zeta |
|
ISS |
OMIM:603165 |
MouseDO |
|
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NCBI chr11:44,782,676...44,810,723
Ensembl chr11:44,782,676...44,810,723
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G |
Ngf |
nerve growth factor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17073871 |
RGD:8657069 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
|
ISO |
protein:increased expression:nerve fibers of the papillary dermis (human) |
RGD |
PMID:16586073 |
RGD:5508452 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:eosinophil |
RGD |
PMID:18647313 PMID:17223862 |
RGD:5144116, RGD:5684771 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Ovol1 |
ovo like transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
potential therapeutic target with or without glucocorticoid therapy (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:21633371 |
RGD:5509940 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Ppia |
peptidylprolyl isomerase A |
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ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:32496587 |
RGD:150383342 |
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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G |
Relb |
RELB proto-oncogene, NF-kB subunit |
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ISO ISS |
OMIM:603165 |
MouseDO RGD |
PMID:10940923 |
RGD:7777149 |
NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
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G |
S100a8 |
S100 calcium binding protein A8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18336422 |
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NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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G |
Sele |
selectin E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12410700 |
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NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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G |
Selp |
selectin P |
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ISO |
atopy and bronchial hyperresponsiveness, OMIM:147050 |
RGD |
PMID:12929084 |
RGD:1599904 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Sharpin |
SHANK-associated RH domain interactor |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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G |
Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15306842 |
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NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
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GAD RGD |
PMID:15118671 PMID:11496247 |
RGD:1331525, RGD:7394812 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tlr2 |
toll-like receptor 2 |
severity |
ISO |
DNA:polymorphism: :-16934A>T(human) DNA:polymorphism:cds:p.R753Q(human) |
RGD |
PMID:19627277 PMID:22032785 PMID:17531301 |
RGD:8552997, RGD:8553048, RGD:8552999 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
DNA:polymorphism: :896G>A(human) mRNA:increased expression:blood cell: |
RGD |
PMID:23821954 PMID:19764566 |
RGD:7794689, RGD:7794745 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tmem79 |
transmembrane protein 79 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
DNA:haplotype:promoter:−308G>A,-238G>A(human) |
RGD |
PMID:22533231 |
RGD:7401246 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfaip6 |
TNF alpha induced protein 6 |
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ISO |
mRNA:altered expression:fibroblast |
RGD |
PMID:16650051 |
RGD:7777183 |
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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G |
Traf3ip2 |
Traf3 interacting protein 2 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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G |
Tslp |
thymic stromal lymphopoietin |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 |
RGD:38549374 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Vdr |
vitamin D receptor |
severity no_association |
ISO |
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) DNA:SNP: :rs2228570 (human) |
RGD |
PMID:23034014 PMID:23034014 |
RGD:8157625, RGD:8157625 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vnn1 |
vanin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19322213 |
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NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
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G |
Wasl |
WASP like actin nucleation promoting factor |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 4:53,083,536...53,132,061
Ensembl chr 4:53,083,536...53,132,022
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G |
Flg |
filaggrin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Atopic dermatitis 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17657246 PMID:18325573 PMID:18396323 PMID:19183181 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:20674819 PMID:21039602 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24251354 PMID:24565632 PMID:24920311 PMID:25314673 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28143684 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31365035 PMID:31637781 More...
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NCBI chr 2:178,888,688...178,912,731
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G |
Socs3 |
suppressor of cytokine signaling 3 |
susceptibility |
ISO |
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OMIM |
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NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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G |
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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G |
Ripk1 |
receptor interacting serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31827280 PMID:31827281 |
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NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
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G |
Dpy30 |
dpy-30 histone methyltransferase complex regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
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G |
Memo1 |
mediator of cell motility 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
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G |
Nlrc4 |
NLR family, CARD domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25217959 PMID:25217960 PMID:25385754 PMID:25741868 PMID:27974463 PMID:28166811 PMID:28492532 PMID:29326099 PMID:29778503 PMID:30319625 PMID:30783801 PMID:30864118 More...
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NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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G |
Slc30a6 |
solute carrier family 30 member 6 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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G |
Srd5a2 |
steroid 5 alpha-reductase 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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G |
Xdh |
xanthine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Plcg2 |
phospholipase C, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated |
OMIM ClinVar |
PMID:23000145 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30619256 PMID:34298581 More...
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NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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G |
Col9a3 |
collagen type IX alpha 3 chain |
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ISO |
Oculoskeletal dysplasia 1 |
OMIA |
PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 PMID:31415586 PMID:31595625 PMID:31746146 More...
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NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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G |
Jak1 |
Janus kinase 1 |
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ISO |
ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA |
OMIM ClinVar |
PMID:20167706 PMID:24728327 PMID:25356970 PMID:25741868 PMID:28111307 PMID:28492532 PMID:32750333 More...
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NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
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G |
Eln |
elastin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cutis laxa, autosomal dominant |
CTD ClinVar |
PMID:11175284 PMID:12555228 PMID:16894468 PMID:19029017 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Fbln5 |
fibulin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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G |
Eln |
elastin |
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ISO |
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 |
OMIM ClinVar |
PMID:5046633 PMID:7884000 PMID:8091333 PMID:9215670 PMID:9215671 PMID:9536098 PMID:9580666 PMID:9873040 PMID:11175284 PMID:12555228 PMID:15955094 PMID:16085695 PMID:17576681 PMID:18348261 PMID:19029017 PMID:19282817 PMID:19593948 PMID:20600892 PMID:21309044 PMID:23049958 PMID:23401415 PMID:24033266 PMID:25741868 PMID:26483232 PMID:28166811 PMID:28391405 PMID:28492532 PMID:29555671 PMID:29907982 PMID:31589614 More...
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NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Fbln5 |
fibulin 5 |
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ISO |
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 |
ClinVar |
PMID:12618961 |
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NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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G |
Fbln5 |
fibulin 5 |
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ISO |
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 |
OMIM ClinVar |
PMID:12618961 PMID:21576112 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 |
OMIM ClinVar |
PMID:8779323 PMID:9536098 PMID:9643297 PMID:17576681 PMID:21739576 PMID:24913064 PMID:25741868 PMID:26026163 PMID:26297558 PMID:26320891 PMID:28492532 More...
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NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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 |
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdh16 |
cadherin 16 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007
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Cdh3 |
cadherin 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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Cenpt |
centromere protein T |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
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Ces2h |
carboxylesterase 2H |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830
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Ces3a |
carboxylesterase 3a |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:32,992,386...33,000,562
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Ces4a |
carboxylesterase 4A |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545
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Chst4 |
carbohydrate sulfotransferase 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,993,471...38,002,123
Ensembl chr19:37,991,417...38,003,608
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Chtf8 |
chromosome transmission fidelity factor 8 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,782,005...34,792,306
Ensembl chr19:34,781,856...34,792,578
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Ciao2b |
cytosolic iron-sulfur assembly component 2B |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068
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Cklf |
chemokine-like factor |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570
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Clec18a |
C-type lectin domain family 18, member A |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,038,498...39,053,425
Ensembl chr19:39,038,273...39,056,017
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Cmtm1 |
CKLF-like MARVEL transmembrane domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184
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Cmtm2a |
CKLF-like MARVEL transmembrane domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:671,719...678,839
Ensembl chr19:671,719...678,837
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Cmtm3 |
CKLF-like MARVEL transmembrane domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790
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Cmtm4 |
CKLF-like MARVEL transmembrane domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109
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Cmtr2 |
cap methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
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Cog4 |
component of oligomeric golgi complex 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
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Cog8 |
component of oligomeric golgi complex 8 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
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Ctcf |
CCCTC-binding factor |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Ctrl |
chymotrypsin-like |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626
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Cyb5b |
cytochrome b5 type B |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249
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Ddx19a |
DEAD-box helicase 19A |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854
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Ddx19b |
DEAD-box helicase 19B |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259
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Ddx28 |
DEAD-box helicase 28 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742
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Dhodh |
dihydroorotate dehydrogenase (quinone) |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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Dhx38 |
DEAH-box helicase 38 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,512,891...37,530,140
Ensembl chr19:37,512,891...37,530,140
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Dpep2 |
dipeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954
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Dpep3 |
dipeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896
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Dus2 |
dihydrouridine synthase 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,906,517...33,954,922
Ensembl chr19:33,911,750...33,954,709
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Dync1li2 |
dynein, cytoplasmic 1 light intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670
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E2f4 |
E2F transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806
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G |
Edc4 |
enhancer of mRNA decapping 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,774,062...33,786,054
Ensembl chr19:33,774,055...33,787,758
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Elmo3 |
engulfment and cell motility 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410
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Enkd1 |
enkurin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545
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G |
Esrp2 |
epithelial splicing regulatory protein 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
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G |
Exoc3l1 |
exocyst complex component 3-like 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486
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Exosc6 |
exosome component 6 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,021,308...39,023,535
Ensembl chr19:39,022,183...39,023,515
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G |
Fbxl8 |
F-box and leucine-rich repeat protein 8 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,142,653...33,147,268
Ensembl chr19:33,142,715...33,147,262
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G |
Fcsk |
fucose kinase |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
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G |
Fhod1 |
formin homology 2 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,206,492...33,225,448
Ensembl chr19:33,206,492...33,225,356
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G |
Gfod2 |
glucose-fructose oxidoreductase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004
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Has3 |
hyaluronan synthase 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
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Hp |
haptoglobin |
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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
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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G |
Hsf4 |
heat shock transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
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G |
Hydin |
Hydin, axonemal central pair apparatus protein |
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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 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
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G |
Ist1 |
IST1 factor associated with ESCRT-III |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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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 |
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NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006
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G |
Lcat |
lecithin cholesterol acyltransferase |
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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G |
Sf3b3 |
splicing factor 3b, subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
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G |
Terf2 |
telomeric repeat binding factor 2 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Tmed6 |
transmembrane p24 trafficking protein 6 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
Acrbp |
acrosin binding protein |
|
ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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G |
Acsm4 |
acyl-CoA synthetase medium-chain family member 4 |
|
ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
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G |
Apobec1 |
apolipoprotein B mRNA editing enzyme catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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G |
Atn1 |
atrophin 1 |
|
ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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G |
C1r |
complement C1r |
|
ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1rl |
complement C1r subcomponent like |
|
ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
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G |
C1s |
complement C1s |
|
ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C3ar1 |
complement C3a receptor 1 |
|
ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
Cd163 |
CD163 molecule |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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G |
Cd4 |
Cd4 molecule |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,668,878...157,695,366
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G |
Cdca3 |
cell division cycle associated 3 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Clec4b2 |
C-type lectin domain family 4, member B2 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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G |
Clstn3 |
calsyntenin 3 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
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G |
Cops7a |
COP9 signalosome subunit 7A |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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G |
Dppa3 |
developmental pluripotency-associated 3 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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G |
Eno2 |
enolase 2 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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G |
Foxj2 |
forkhead box J2 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Gdf3 |
growth differentiation factor 3 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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G |
Gnb3 |
G protein subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G |
Gpr162 |
G protein-coupled receptor 162 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,662,200...157,668,341
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G |
Grcc10 |
gene rich cluster, C10 gene |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,551,276...157,552,924
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G |
Iffo1 |
intermediate filament family orphan 1 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
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G |
Ing4 |
inhibitor of growth family, member 4 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
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Lag3 |
lymphocyte activating 3 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
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G |
Lpar5 |
lysophosphatidic acid receptor 5 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,870,493...157,883,970
Ensembl chr 4:157,881,796...157,882,950
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G |
Lpcat3 |
lysophosphatidylcholine acyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
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G |
Lrrc23 |
leucine rich repeat containing 23 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
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G |
Ltbr |
lymphotoxin beta receptor |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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G |
Mir141 |
microRNA 141 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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G |
Mir200c |
microRNA 200c |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,523,679...157,523,747
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G |
Mlf2 |
myeloid leukemia factor 2 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
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G |
Mrpl51 |
mitochondrial ribosomal protein L51 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
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G |
Nanog |
Nanog homeobox |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
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G |
Ncapd2 |
non-SMC condensin I complex, subunit D2 |
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ISO |
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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