Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.010 GeneticVariation disease BEFREE Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium channel (CACNA1A) gene suggesting diagnoses of transthyretin amyloidosis, Marfan syndrome, and familial hemiplegic migraines, respectively. 24664531 2014