GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.030 GeneticVariation disease BEFREE One patient with transthyretin amyloidosis and 1 patient with gelsolin amyloidosis with no specific mutation identified were diagnosed based on genetic confirmation in their first-degree relative. 20937937 2011
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.030 GeneticVariation disease BEFREE FAP is most commonly associated with variant plasma transthyretin (TTR), although it has also been described in association with mutant apolipoprotein A-1 and gelsolin. 8737931 1996
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.030 GeneticVariation disease BEFREE Familial amyloid polyneuropathy (FAP) is most commonly associated with variant plasma transthyretin, although it has also been described in association with mutant apolipoprotein A-1 and gelsolin. 8293178 1993