Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1205536026
rs1205536026
TP63
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.700 GeneticVariation UNIPROT EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. 12838557

2003
dbSNP: rs1205536026
rs1205536026
TP63
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.700 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: rs1205536026
rs1205536026
TP63
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.700 GeneticVariation UNIPROT Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 10839977

2000
dbSNP: rs1205536026
rs1205536026
TP63
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.700 GeneticVariation UNIPROT Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 10535733

1999