Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
CUI: C0086543
Disease: Cataract
Cataract
0.400 Biomarker GENOMICS_ENGLAND The diagnosis was established after sequencing a panel of genes associated with cataracts, which revealed compound heterozygous SC5D mutations: c.479C>G p.(Pro160Arg) and c.630C>A p.(Asp210Glu). 30097991

2019