MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked
0.310 GeneticVariation disease BEFREE The paternal COL4A5 mutation seems to account for the complete phenotype of ATS in the father and the maternal mutation in MYH9 for the inner ear deafness in the mother. 23144074 2012
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked
0.310 Biomarker disease CTD_human Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. 10973259 2000