Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
1.000 Biomarker CLINGEN Our data suggest that DFNA17 should not be a separate genetic entity but part of the wide phenotypic spectrum of MYH9-RD characterized by congenital hematological manifestations and variable penetrance and expressivity of the extra-hematological features. 24890873

2015

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
1.000 Biomarker CLINGEN Cochlear implants for DFNA17 deafness. 17146397

2006

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
1.000 Biomarker CLINGEN Inherited mutations in the Myh9 gene have been linked to non-syndromic hereditary hearing impairment DFNA17 as well as 'MYH9-related disease' characterized by macrothrombocytopenia, leukocyte inclusions, and in some patients deafness. 16630581

2006

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
1.000 Biomarker CLINGEN Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 16162639

2005

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
1.000 Biomarker CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828

1998