LIPN, lipase family member N, 643418

N. diseases: 34; N. variants: 3
Disease: Congenital Nonbullous Ichthyosiform Erythroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.500 GermlineCausalMutation disease ORPHANET A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. 21439540 2011
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.500 Biomarker disease GENOMICS_ENGLAND