TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Split hand foot deformity 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761885185
rs761885185
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C2931019
Disease:
Split hand foot deformity 1 		0.020 GeneticVariation BEFREE We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively. 22069181 2011
dbSNP: rs761885185
rs761885185
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C2931019
Disease:
Split hand foot deformity 1 		0.020 GeneticVariation BEFREE Sequencing showed a CGT-->TGT missense mutation (R280C) in exon 7, previously reported to cause EEC in four families, and ectrodactyly alone (split hand-foot malformation) in one sporadic case and one large kindred. 15324320 2004