GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3
0.020 Biomarker disease BEFREE Close collaboration between the ophthalmologist and the internist will facilitate a more precise diagnosis of ocular involvement in amyloidosis and allow the multidisciplinary management of these patients.<b>Abbreviations:</b> CD: corneal dystrophy; CLA: corneal lattice amyloidosis; CNS: central nervous system; CT: computed tomography; FAP: familial amyloidotic polyneuropathy; GDLCD: gelatinous drop-like corneal dystrophy; GLN: gelsolin; LCD: lattice corneal dystrophy; MRI: magnetic resonance imaging; OLT: orthotopic liver transplantation; TEM: transmission electron microscopy; TGFBI: transforming growth factor β induced; TTR: transthyretin. 31829761 2020
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3
0.020 GeneticVariation disease BEFREE A patient having Finnish-type corneal amyloidosis had a p.D187N mutation in GSN. 24801599 2014