MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: Fechtner syndrome (disorder) ×
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: C0403445
Disease:
Fechtner syndrome (disorder) 		0.020 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: C0403445
Disease:
Fechtner syndrome (disorder) 		0.020 GeneticVariation BEFREE We studied a large FTNS family in which 10 components carried a missense mutation of MYH9 determining the D1424H substitution. 12500226 2003