Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870

2006
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 12533692

2003
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. 12792306

2003
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. 12621333

2003
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151

2003
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 11752022

2002
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 11935325

2002
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. 11776386

2001
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 11590545

2001
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 10973260

2000
dbSNP: rs762773112
rs762773112
MYH9
0.700 GeneticVariation UNIPROT Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. 10973259

2000