POMP, proteasome maturation protein, 51371

N. diseases: 66; N. variants: 6
Disease: Hyperkeratosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.010 GeneticVariation disease BEFREE Keratosis linearis with ichthyosis congenita and keratoderma (KLICK) is an autosomal recessive skin disorder associated with a single-nucleotide deletion in the 5'untranslated region of the proteasome maturation protein (POMP) gene. 22235297 2012