Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 24890873

2015

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 25505834

2014

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. 23976996

2013

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 21908426

2012

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. 21542825

2011

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN Cochlear implants for DFNA17 deafness. 17146397

2006

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN Expression of Myh9 in the mammalian cochlea: localization within the stereocilia. 16862555

2006

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker 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

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 16162639

2005

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. 15339844

2005

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
1.000 Biomarker CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828

1998