Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		disease 1.000 None 0.992 142 43 1983 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		disease 0.800 None 0.950 0 3 1991 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		disease 0.700 limited 1.000 0 3 1990 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.500 strong 0.987 0 3 1986 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		disease 0.420 None 1.000 0 1 2001 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C3151471
Disease: AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED 		disease 0.300 None 1.000 0 1 2018 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C3151470
Disease: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 		disease 0.300 None 1.000 0 5 2018 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.200 None 0.929 1 1 1994 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.160 None 0.833 0 1 2007 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C3468338
Disease: CARPAL TUNNEL SYNDROME, FAMILIAL
CARPAL TUNNEL SYNDROME, FAMILIAL 		disease 0.120 None 1.000 0 1 1994 2001
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease 0.100 None 0 1
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.100 None 0 1
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype 0.100 None 0 1