TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Ectodermal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 Biomarker disease BEFREE The phenotypes of TP63-related disorders broadly involve ectodermal dysplasias, acromelic malformation and orofacial cleft. 31420900 2019
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. 29130604 2018
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. 27838789 2017
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Mutations of p63 also cause the ectodermal dysplasia-ectrodactyly-cleft lip/palate (EEC) syndrome, comprising SHFM. 24569166 2014
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE TP63 germ-line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of ectoderm-derived tissues. 23463580 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 Biomarker disease BEFREE Ectodermal dysplasias: the p63 tail. 23407076 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE The ectodermal dysplasias are a group of inherited autosomal dominant syndromes associated with heterozygous mutations in the Tumor Protein p63 (TRP63) gene. 23589895 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia. 23613309 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Mutations of p63 gene cause epidermal abnormalities characterized by ectodermal dysplasia. 23442358 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 Biomarker disease BEFREE Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. 22607287 2012
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE A novel heterozygous point mutation in the p63 gene in a patient with ectodermal dysplasia associated with B-cell leukemia. 21906144 2012
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE This is clearly demonstrated by the severe abnormality of p63-deficient mice and by the development of certain types of ectodermal dysplasias in humans as a result of p63 mutations. 21471985 2011
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. 21567929 2011
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 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
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Mutations in TP63 can give rise to a series of syndromes characterized by various combinations of ectodermal dysplasia, limb malformations, and orofacial clefting in many populations. 20410354 2010
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Heterozygous mutations in the TP63 transcription factor underlie the molecular basis of several similar autosomal dominant ectodermal dysplasia (ED) syndromes. 20361935 2010
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting. 19663851 2009
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Heterozygous mutations in the p63 gene underlie a group of at least seven allelic syndromes, including ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC) and Rapp Hodgkin syndrome (RHS), which involves varying degrees of ectodermal dysplasia, orofacial clefting and limb malformations. 19676060 2009
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 AlteredExpression disease LHGDN We show that the DeltaNp63 isoform is required for IKKalpha expression in differentiating keratinocytes and that mutant p63 proteins expressed in ectodermal dysplasia patients exhibit defects in inducing IKKalpha. 18633439 2009
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 18603493 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Given the nature of other RHS/AEC-like syndrome mutations, we conclude that these mutations affect only the DeltaNp63alpha isoform and that this disruption is fundamental to explaining the clinical characteristics of these particular ectodermal dysplasia syndromes. 18364388 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease LHGDN R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 18603493 2008
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Dlx3 and p63 act as part of the transcriptional regulatory pathways relevant in ectoderm derivatives, and autosomal mutations in either of these genes are associated with human EDs. 17164413 2007
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE TP63 (also known as TP73L) mutations have been identified in several such syndromes characterized by autosomal dominant transmission and various combinations of ectodermal dysplasia, limb malformations and orofacial clefting. 17609671 2007
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.200 GeneticVariation disease BEFREE Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. 17224651 2007