AQP5, aquaporin 5, 362

N. diseases: 119; N. variants: 7
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833030
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC 		0.310 GeneticVariation disease BEFREE Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. 23830519 2013
CUI: C1833030
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC 		0.310 GermlineCausalMutation disease ORPHANET Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. 23830519 2013