rs554332083, MYH9

N. diseases: 1
Disease: May-Hegglin anomaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
0.700 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870 2006
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
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
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
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
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
0.700 GeneticVariation UNIPROT Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151 2003
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
0.700 GeneticVariation UNIPROT Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. 12621333 2003
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
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
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
0.700 GeneticVariation UNIPROT Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 11935325 2002
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
0.700 GeneticVariation UNIPROT Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. 11776386 2001
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
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
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
0.700 GeneticVariation UNIPROT Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 10973260 2000
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
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