rs759304648, GSN

N. diseases: 9
Disease: Lattice corneal dystrophy Type II ×
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