MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: May-Hegglin anomaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation BEFREE These findings were consistent with MHA and they were identified to express the MYH9 mutation, D1424H. 21329637 2011
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 16969870 2006
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 12533692 2003
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 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: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151 2003
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. 12621333 2003
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation BEFREE Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151 2003
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly. 11752022 2002
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 11935325 2002
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation BEFREE Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly. 11752022 2002
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. 11776386 2001
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS. 11590545 2001
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. 10973259 2000
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.830 GeneticVariation UNIPROT Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 10973260 2000
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		A 0.830 CausalMutation CLINVAR
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		G 0.830 CausalMutation CLINVAR
dbSNP: rs80338831
rs80338831
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		T 0.830 CausalMutation CLINVAR