MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: Congenital thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		0.120 GeneticVariation disease BEFREE However, persistent thrombocytopenia led to the suspicion of congenital thrombocytopenia and subsequent identification of a novel variant in MYH9 (E1421K). 29286575 2018
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		0.120 GeneticVariation disease BEFREE Similarly, MYH9 mutations result in congenital thrombocytopaenia and increase the risk of developing kidney failure, cataracts and hearing loss at a later stage, while MPL mutations cause a congenital thrombocytopaenia that almost always evolves into deadly bone marrow failure. 28594466 2017
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		0.120 Biomarker disease HPO