LIPN, lipase family member N, 643418

N. diseases: 34; N. variants: 3
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553029
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 		0.600 Biomarker disease GENOMICS_ENGLAND A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. 21439540 2011
CUI: C3553029
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 		0.600 Biomarker disease GENOMICS_ENGLAND A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. 21439540 2011
CUI: C3553029
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 		0.600 Biomarker disease CTD_human
CUI: C3553029
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 		0.600 CausalMutation disease CLINVAR