DisGeNET - a database of gene-disease associations

GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C1622345
Disease:

Meretoja syndrome

0.800

GeneticVariation

UNIPROT

Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.

1338910

1992

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C1622345
Disease:

Meretoja syndrome

0.800

GeneticVariation

UNIPROT

Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.

2176481

1990

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C1622345
Disease:

Meretoja syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C1622345
Disease:

Meretoja syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs76331566

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Co-regulatory networks of human serum proteins link genetics to disease.

30072576

2018

dbSNP:

rs10985207

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs16910509

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs16910509

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs16910520

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2164298

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs216784

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2289069

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2900193

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs306759

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs306761

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs306770

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs306772

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0002726
Disease:

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

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0002726
Disease:

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

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0002726
Disease:

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

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0002726
Disease:

Amyloidosis

0.060

GeneticVariation

BEFREE

Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.

10744159

2000

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0002726
Disease:

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

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0002726
Disease:

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

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0740340
Disease:

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

dbSNP:

rs121909715

Entrez Id:	2934
Gene Symbol:	GSN

GSN

CUI:	C0740340
Disease:

Amyloidosis, Familial

0.050

GeneticVariation

BEFREE

A mutation (D187N/Y) in human plasma gelsolin (GSN) leads to the generation of an 8 kDa GSN fragment (8 kDa-GSN), and consequently causes the familial amyloidosis of Finnish type.

28465181

2017