Disease: Congenital total cataract ×
Source: ALL
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 Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis). 26622071 2015
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		0.300 GermlineCausalMutation disease ORPHANET An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. 21761136 2012