GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376961112
rs376961112
Entrez Id: 2934
Gene Symbol: GSN
GSN
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.020 GeneticVariation BEFREE The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide. 22094129 2011
dbSNP: rs376961112
rs376961112
Entrez Id: 2934
Gene Symbol: GSN
GSN
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.020 GeneticVariation BEFREE Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced). 20937937 2011