Disease: Congenital ichthyosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.010 GeneticVariation disease BEFREE ABCA3 is involved in lipid secretion via LGs from alveolar type II cells, and missense mutations in ABCA12 have been reported to cause lamellar ichthyosis type 2, a milder form of ichthyosis. 16007253 2005