MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: Other primary thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 24890873 2015
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 25505834 2014
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. 23976996 2013
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group MGD Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 21908426 2012
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 21908426 2012
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. 21542825 2011
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN Expression of Myh9 in the mammalian cochlea: localization within the stereocilia. 16862555 2006
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN Cochlear implants for DFNA17 deafness. 17146397 2006
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources. 16630581 2006
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. 15339844 2005
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 16162639 2005
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998