×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
GeneticVariation
BEFREE
Tumor protein p63 (TP63 )-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3 ), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome), limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS) and split-hand/foot malformation 4 (SHFM4), and are all a result of heterozygous mutations of TP63.
31420900
2019
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
CausalMutation
CLINVAR
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
26380986
2015
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
CausalMutation
CLINVAR
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
19903181
2010
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
GeneticVariation
UNIPROT
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.
12838557
2003
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
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
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
Biomarker
GENOMICS_ENGLAND
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
11462173
2001
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
GeneticVariation
UNIPROT
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
10839977
2000
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
GeneticVariation
UNIPROT
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
10535733
1999
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
Biomarker
CTD_human
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
8626
Gene Symbol:
TP63
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
0.710
GeneticVariation
CLINVAR