rs920832709, GSN

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder caused by a G654A or G654T gelsolin mutation, reported from Europe, North America, and Japan. 17453628 2007
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE Hereditary gelsolin amyloidosis (AGel amyloidosis) is an age-associated systemic disease with global distribution, caused by a G654A or G654T gelsolin gene mutation. 15727635 2005
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder reported worldwide in kindreds with a G654A or G654T gelsolin gene mutation. 12071640 2002
Lattice corneal dystrophy Type II
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
0.020 GeneticVariation BEFREE Hereditary gelsolin-related amyloidosis (AGel amyloidosis) is a systemic disorder caused by a G654A or G654T mutation in the gene coding for gelsolin, an actin-modulating protein. 10744159 2000
Lattice corneal dystrophy Type II
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
0.020 GeneticVariation BEFREE The present results and the previously detected gelsolin mutation G654T in Czech and Danish FAF patients suggest that nucleotide 654 may represent a mutation hot spot in the gelsolin gene. 7550233 1995
Systemic amyloidosis
CUI: C0268380
Disease: Systemic amyloidosis
0.010 GeneticVariation BEFREE Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant type of systemic amyloidosis caused by a G654A (Asn-187) or G654T (Tyr-187) mutation in the gelsolin gene. 9354764 1997
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary Systemic Amyloidosis
0.010 GeneticVariation BEFREE Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant type of systemic amyloidosis caused by a G654A (Asn-187) or G654T (Tyr-187) mutation in the gelsolin gene. 9354764 1997