MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
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: rs80338834
rs80338834
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: rs80338834
rs80338834
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly
0.830 GeneticVariation BEFREE Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L). 16098078 2005
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: rs80338834
rs80338834
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: rs80338834
rs80338834
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: rs80338834
rs80338834
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: rs80338834
rs80338834
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 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: rs80338834
rs80338834
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: rs80338834
rs80338834
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: rs80338834
rs80338834
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: rs80338834
rs80338834
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: rs80338834
rs80338834
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: rs80338834
rs80338834
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly
0.830 GeneticVariation BEFREE Haplotype analysis using three novel microsatellite markers revealed that three E1841K carriers--one with MHA and two with FTNS--shared a common haplotype around the MYH9 gene, suggesting a common ancestor. 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