rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
UNIPROT
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
16969870
2006
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
UNIPROT
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
16969870
2006
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
UNIPROT
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
12621333
2003
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
UNIPROT
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
12621333
2003
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
UNIPROT
Two mutations (E1841K and D1424N ) have been reported elsewhere in families with May-Hegglin anomaly .
11752022
2002
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
UNIPROT
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
11935325
2002
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
BEFREE
Two mutations (E1841K and D1424N ) have been reported elsewhere in families with May-Hegglin anomaly .
11752022
2002
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
UNIPROT
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly .
11752022
2002
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
UNIPROT
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
11935325
2002
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.830
GeneticVariation
BEFREE
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly .
11752022
2002
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338834
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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
rs80338831
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
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