Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract
0.300 GermlineCausalMutation disease ORPHANET A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. 17893667 2007