rs759304648, GSN

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lattice corneal dystrophy Type II
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
0.040 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
0.040 GeneticVariation BEFREE Gelsolin-related amyloidosis (AGel amyloidosis) is a rare autosomal dominant disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation. 10389096 1999
Lattice corneal dystrophy Type II
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
0.040 GeneticVariation BEFREE Gelsolin-related amyloidosis (familial amyloidosis, Finnish type) is a rare disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation. 10072044 1999
Lattice corneal dystrophy Type II
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
0.040 GeneticVariation BEFREE Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan. 7550233 1995
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
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.020 GeneticVariation BEFREE A point mutation (G654A) in the gelsolin gene causes a dominantly inherited systemic amyloidosis called familial amyloidosis of the Finnish type (FAF). 10463954 1999
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.020 GeneticVariation BEFREE Identification of the circulating amyloid precursor and other gelsolin metabolites in patients with G654A mutation in the gelsolin gene (Finnish familial amyloidosis): pathogenetic and diagnostic implications. 9354764 1997
Hypotension, Orthostatic
CUI: C0020651
Disease: Hypotension, Orthostatic
0.010 GeneticVariation BEFREE We report a Japanese FAF patient with a missense mutation (G654A), presenting multiple cranial nerve symptoms, corneal lattice dystrophy, carpal tunnel syndrome and orthostatic hypotension. 19422734 2010
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
0.010 GeneticVariation BEFREE AGel amyloidosis caused by a gelsolin G654A gene mutation is autosomally dominantly inherited and presents typically in the 30s with progressive corneal lattice dystrophy, followed by cutis laxa and cranial polyneuropathy. 19701715 2009
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
0.010 GeneticVariation BEFREE AGel amyloidosis caused by a gelsolin G654A gene mutation is autosomally dominantly inherited and presents typically in the 30s with progressive corneal lattice dystrophy, followed by cutis laxa and cranial polyneuropathy. 19701715 2009
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
0.010 GeneticVariation BEFREE Our results suggest that, in addition to amyloid deposition, the G654A gelsolin gene defect causes altered gelsolin-mediated cellular mechanisms, which may contribute, e.g., to bleeding tendency in AGel amyloidosis patients. 10744159 2000
Sleep Apnea Syndromes
CUI: C0037315
Disease: Sleep Apnea Syndromes
0.010 GeneticVariation BEFREE To evaluate whether sleep apnoea is present we performed nocturnal sleep recordings, cephalometric and spirometric analyses and multiple sleep latency tests (MSLT) in five snoring patients with a G654A gelsolin gene mutation. 10389096 1999
Inherited systemic amyloidosis
CUI: C1719316
Disease: Inherited systemic amyloidosis
0.010 GeneticVariation BEFREE A point mutation (G654A) in the gelsolin gene causes a dominantly inherited systemic amyloidosis called familial amyloidosis of the Finnish type (FAF). 10463954 1999