MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: Hematuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018965
Disease: Hematuria
Hematuria 		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
CUI: C0018965
Disease: Hematuria
Hematuria 		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