TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908835
rs121908835
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C1858562
Disease:
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 GeneticVariation UNIPROT EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. 12838557 2003
dbSNP: rs121908835
rs121908835
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C1858562
Disease:
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 GeneticVariation UNIPROT p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 11462173 2001
dbSNP: rs121908835
rs121908835
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C1858562
Disease:
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 GeneticVariation UNIPROT Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 10839977 2000
dbSNP: rs121908835
rs121908835
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C1858562
Disease:
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 GeneticVariation UNIPROT Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 10535733 1999
dbSNP: rs121908835
rs121908835
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C1858562
Disease:
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		T 0.800 CausalMutation CLINVAR