rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Meretoja syndrome
T
0.800
CausalMutation
CLINVAR
rs16910509
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
T
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs2164298
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
T
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs216784
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
T
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs2900193
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
T
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs306759
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
T
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs16910509
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
C
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs306772
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
C
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs76331566
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Blood Protein Measurement
C
0.700
GeneticVariation
GWASCAT
Co-regulatory networks of human serum proteins link genetics to disease.
30072576
2018
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Meretoja syndrome
A
0.800
CausalMutation
CLINVAR
rs10985207
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
A
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs16910520
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
A
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs2289069
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
A
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs306761
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
A
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs306770
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Leukemia, Myelocytic, Acute
A
0.700
GeneticVariation
GWASCAT
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
27903959
2017
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Meretoja syndrome
0.800
GeneticVariation
UNIPROT
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
1338910
1992
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Meretoja syndrome
0.800
GeneticVariation
UNIPROT
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.
2176481
1990
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Amyloidosis
0.060
GeneticVariation
BEFREE
Altered platelet shape change in hereditary gelsolin Asp187Asn -related amyloidosis .
10744159
2000
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Amyloidosis
0.060
GeneticVariation
BEFREE
The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from Asn187 gelsolin peptides and provides evidence that amyloid formation in Finnish amyloidosis is a direct consequence of the Asp187----Asn substitution in gelsolin.
1311922
1992
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Amyloidosis
0.060
GeneticVariation
BEFREE
Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced).
20937937
2011
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Amyloidosis
0.060
GeneticVariation
BEFREE
The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin.
1652889
1991
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Amyloidosis
0.060
GeneticVariation
BEFREE
Mutations (D187N /Y) in the second domain of gelsolin trigger the proteolytic pathway producing amyloidogenic fragments that form the pathological hallmark of gelsolin amyloidosis and lattice corneal dystrophy type 2 (LCD2).
29637772
2018
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Amyloidosis
0.060
GeneticVariation
BEFREE
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene.
16258946
2006
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Amyloidosis, Familial
0.050
GeneticVariation
BEFREE
Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn ).
1319113
1992
rs121909715
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
Amyloidosis, Familial
0.050
GeneticVariation
BEFREE
Five affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV.
28039894
2017