UVRAG, UV radiation resistance associated, 7405

N. diseases: 336; N. variants: 5
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 		0.100 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 		0.100 GeneticVariation disease BEFREE Mutations of p63 gene cause epidermal abnormalities characterized by ectodermal dysplasia. 23442358 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 Biomarker disease BEFREE Ectodermal dysplasias: the p63 tail. 23407076 2013
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 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 		0.100 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 		0.100 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
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 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 		0.100 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 		0.100 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
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 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 		0.100 GeneticVariation disease BEFREE The p63 protein is crucial for epidermal development, and its mutations cause the extrodactyly ectodermal dysplasia and cleft lip/palate syndrome. 16679535 2006
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE Heterozygous mutations in the transcription factor gene p63 cause at least six different syndromes with various combinations of ectodermal dysplasia, orofacial clefting and limb malformations. 16691622 2006
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE The ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by heterozygous mutations in p63. 16724007 2006
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE Mutations within the p63 gene have been shown to cause ectodermal dysplasia syndromes affecting a spectrum of developmental abnormalities, including ectodermal appendages, e.g. enamel. 16546853 2006
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE In this review, we discuss effectors of these initial signals, specifically the p63 and Dlx families of transcription factors, that play central roles in embryonic patterning and regulation of different developmental processes, and provide a review of some of the mutations in these genes that have been associated with ectodermal dysplasias (EDs). 16187309 2005
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE The expanding p63 mutation database demonstrates that there is overlap between Rapp-Hodgkin syndrome and several other ectodermal dysplasia syndromes, notably Hay-Wells syndrome, and that characterization of the functional consequences of these p63 gene mutations at a molecular and cellular level is likely to provide further insight into the clinical spectrum of these developmental malformation syndromes. 15725251 2005
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor p63. 15550149 2004
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. 12766194 2003
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE These data expand the p63 gene mutation database and provide the first example of a DNA-based prenatal test in this ectodermal dysplasia syndrome. 11903230 2002
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.100 GeneticVariation disease BEFREE Significantly, several dominant human syndromes involving limb development and/or ectodermal dysplasia have been mapped to chromosome 3q27 and ultimately the gene encoding p63. 11879774 2002