Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		0.300 GermlineCausalMutation ORPHANET Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis). 26622071

2015
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		0.300 GermlineCausalMutation ORPHANET An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. 21761136

2012