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: rs80338835
rs80338835
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.730 GeneticVariation BEFREE R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura. 23759689 2014
dbSNP: rs80338835
rs80338835
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.730 GeneticVariation BEFREE A truncating mutation (R1933X) was found in three MHA families. 16098078 2005
dbSNP: rs80338835
rs80338835
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		0.730 GeneticVariation BEFREE The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS. 11590545 2001
dbSNP: rs80338835
rs80338835
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0340978
Disease:
May-Hegglin anomaly 		A 0.730 CausalMutation CLINVAR