Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
0.310 Biomarker phenotype GENOMICS_ENGLAND MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. 22627578 2012
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
0.310 GeneticVariation phenotype BEFREE 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