rs759304648, GSN

N. diseases: 9
Disease: Cutis Laxa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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