TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Rudiger syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 Biomarker disease BEFREE Single-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome. 31413199 2019
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE The present study revealed that the R243Q mutation in the TP63 gene produced a novel phenotype named SHFM4, thereby demonstrating the mutational overlap between ectrodactyly‑ectodermal dysplasia‑cleft syndrome and SHFM4. 29620206 2018
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene. 29477592 2018
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome. 30566872 2018
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 Biomarker disease BEFREE Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function. 26891374 2016
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Mutations of p63 also cause the ectodermal dysplasia-ectrodactyly-cleft lip/palate (EEC) syndrome, comprising SHFM. 24569166 2014
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GermlineCausalMutation disease ORPHANET Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. 24734328 2013
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE The third hallmark of the EEC syndrome is orofacial clefting, in particular lip and palate. p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome). 23407076 2013
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Heterozygous p63 mutations cause the EEC syndrome and result in visual impairment owing to progressive LSCD. 21959367 2012
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GermlineCausalMutation disease ORPHANET There was no relationship of limbal stem cell failure with the severity of EEC syndrome, as classified by the EEC score, or the underlying molecular defect in p63. 21959367 2012
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome. 22607287 2012
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. 22056627 2012
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 Biomarker disease MGD A conserved Pbx-Wnt-p63-Irf6 regulatory module controls face morphogenesis by promoting epithelial apoptosis. 21982646 2011
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 Biomarker disease MGD Residual embryonic cells as precursors of a Barrett's-like metaplasia. 21703447 2011
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Here, we characterize the transcriptional activity and protein stability of ΔNp63 mutants (that is, mutants of a p63 isoform that lacks the N-terminal transactivation domain) that are found in ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC), ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC) and nonsyndromic split-hand/split-foot malformation (SHFM). 21652629 2011
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE C308Y mutation in exon 8 of TP63 gene was detected, which was previously described to lead only to EEC syndrome and not to any of the other allelic conditions. 22065614 2011
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain. 20180707 2010
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Pathogenic mutations in the TP63 transcription factor have been identified as the molecular basis of EEC syndrome and to date 34 mutations have been reported. 19903181 2010
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE The TP63 gene molecular study showed in both siblings a heterozygous H208D mutation, which has not been previously reported to our knowledge, suggesting that this molecular lesion is associated with EEC syndrome without orofacial clefting. 19663851 2009
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2]. 18603493 2008
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, four have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation. 17431922 2007
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 Biomarker disease MGD DeltaNp63 plays an anti-apoptotic role in ventral bladder development. 17079275 2006
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE This report expands the knowledge of genotype-phenotype data on the p63 gene and suggests there may be a considerable overlap between the EEC syndrome and the ADULT syndrome. 17041931 2006
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 GeneticVariation disease BEFREE TP63 mutation and clefting modifier genes in an EEC syndrome family. 15324320 2004
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.800 Biomarker disease MGD p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract. 12368184 2002