Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0086543
Disease: Cataract
Cataract
0.350 Biomarker GENOMICS_ENGLAND We report the first case of an MYH9-RD in a patient of Greek origin presenting with macroscopic hematuria and presenile cataract caused by a p.R1165C mutation. 22627578

2012