MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: Congenital lamellar cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		0.110 GeneticVariation disease BEFREE By candidate gene screening, we identified a novel mutation in MIP (c.494 G > A) that segregates with a congenital lamellar cataract within a south Indian family and causes the replacement of a highly conserved glycine by aspartate (G165D) within aquaporin0 (AQP0). 23116563 2013
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		0.110 Biomarker disease HPO