EXPH5, exophilin 5, 23086

N. diseases: 14; N. variants: 3
Disease: Epidermolysis Bullosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.320 GeneticVariation disease BEFREE In one patient, novel homozygous mutations were disclosed in two different, unlinked EB-associated genes: EXPH5, chr11 g.108510085G > A; p.Arg1808Ter and COL17A1, chr10 g.104077423delT; p.Thr68LeufsTer106. 30016581 2018
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.320 GeneticVariation disease BEFREE Sequencing the complete set of genes associated with epidermolysis bullosa revealed a homozygous nonsense mutation in exon 6 of EXPH5: c.3917C>G, p.Ser1306*. 27384765 2016
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.320 Biomarker disease CTD_human