rs876658108, TTR

N. diseases: 1
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED ×
Source: INFERRED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 CausalMutation CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949 2017
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 CausalMutation CLINVAR Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. 26208957 2015
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 CausalMutation CLINVAR TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. 22592564 2013
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 CausalMutation CLINVAR Carpal tunnel syndrome as an initial manifestation in a case of transthyretin-related familial amyloid polyneuropathy with a novel A120T mutation. 22209138 2012
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 CausalMutation CLINVAR Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338 2002