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: C1567741
Disease: Alport Syndrome
Alport Syndrome
0.310 GeneticVariation disease BEFREE A phenotype resembling AS may also be seen with myosin heavy chain-9 (MYH9) gene mutations. 12819239 2003
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome
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