Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022579
Disease: Keratoderma
Keratoderma
0.010 GeneticVariation disease BEFREE Here we show that mutations in PERP, encoding a crucial component of desmosomes, cause both dominant and recessive human keratoderma. 30321533 2019