MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: EAR, PATELLA, SHORT STATURE SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.020 GeneticVariation disease BEFREE Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA). 19557653 2009
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.020 GeneticVariation disease BEFREE Mutation of the non-muscle myosin heavy chain type II-A results in MYH9-related hereditary macrothrombocytopenia (HMTC), including four autosomal dominant platelet disorders: May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FS) and Epstein (EPS) syndrome. 16098078 2005