Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
0.100 GeneticVariation disease BEFREE Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome. 30566872 2018
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
0.100 AlteredExpression disease BEFREE Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM). 22342398 2012
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
0.100 GeneticVariation disease BEFREE Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900). 11012604 2000
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 GeneticVariation disease BEFREE Four patients with syndromic ectrodactyly had p63 heterozygous point mutations that affect the DNA binding domain of the protein. 14656652 2004
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.100 GeneticVariation disease 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
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 GeneticVariation disease BEFREE These phenotypes resemble human malformations and in this review we describe the underlying mechanisms and clinical associations of split hand/foot malformation and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, which have both been associated with mutations in the p63 gene. 11595015 2001
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
0.100 Biomarker disease BEFREE The p63 gene has been described in five overlapping limb malformation syndromes including the EEC syndrome (ectodermal ectrodactyly clefting). 17041931 2006
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
0.100 Biomarker disease BEFREE Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24. 14699611 2004
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 GeneticVariation disease BEFREE Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome. 30566872 2018
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.100 GeneticVariation disease BEFREE Mutations in TP63 at the SHFM4 locus are known to underlie both syndromic and non-syndromic forms SHFM, but the causes of most non-syndromic SHFM cases remain unknown. 16761290 2006
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 GeneticVariation disease BEFREE Mutations in the p63 gene are found in a number of human syndromes, including ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), Hay-Wells syndrome and in non-syndromic split-hand/split-foot malformation (SHFM). 11929852 2002
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.100 GeneticVariation disease BEFREE Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. 23736768 2013
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.100 GeneticVariation disease BEFREE We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities. 11462173 2001
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
0.100 GeneticVariation disease BEFREE Several ectodermal dysplasia syndromes, including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) syndromes, are known to result from mutations in the p63 gene. 12766194 2003
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
0.100 GeneticVariation disease 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
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 GeneticVariation disease BEFREE We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities. 11462173 2001
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 Biomarker disease BEFREE The p63 gene has been described in five overlapping limb malformation syndromes including the EEC syndrome (ectodermal ectrodactyly clefting). 17041931 2006
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 GeneticVariation disease BEFREE Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. 23736768 2013
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 GeneticVariation disease 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
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
0.100 GeneticVariation disease BEFREE Mutations in the p63 gene are found in a number of human syndromes, including ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), Hay-Wells syndrome and in non-syndromic split-hand/split-foot malformation (SHFM). 11929852 2002
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
0.100 GeneticVariation disease BEFREE Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome. 30566872 2018
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.100 GeneticVariation disease BEFREE We show also that ΔNp63α protein stability is negatively regulated by the interaction with the prolyl-isomerase Pin1, via proteasome-mediated degradation; p63 mutant proteins associated with SHFM or EEC syndromes are resistant to Pin1 action. 24569166 2014
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
0.100 GeneticVariation disease BEFREE These phenotypes resemble human malformations and in this review we describe the underlying mechanisms and clinical associations of split hand/foot malformation and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, which have both been associated with mutations in the p63 gene. 11595015 2001
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
0.100 GeneticVariation disease BEFREE Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. 23736768 2013
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.100 Biomarker disease BEFREE ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. 22607287 2012