GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Disease: Meretoja syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND Renal amyloidosis associated with a novel sequence variant of gelsolin. 22938848 2013
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 GeneticVariation disease BEFREE Ocular amyloid deposition in familial amyloidosis, Finnish: an analysis of native and variant gelsolin in Meretoja's syndrome. 8088963 1994
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. 8388189 1993
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 GeneticVariation disease UNIPROT Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. 1338910 1992
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. 2176164 1990
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 GeneticVariation disease UNIPROT Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. 2176481 1990
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). 6610849 1983
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 Biomarker disease CTD_human
CUI: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND