TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268383
Disease: Familial amyloid polyneuropathy, type VI
Familial amyloid polyneuropathy, type VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 4 1999 2009
CUI: C0268385
Disease: Familial Amyloid Polyneuropathy, Jewish Type
Familial Amyloid Polyneuropathy, Jewish Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 4 1999 2009
CUI: C0268386
Disease: Amyloid Polyneuropathy, Swiss Type
Amyloid Polyneuropathy, Swiss Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 4 1999 2009
CUI: C0342608
Disease: Amyloid Polyneuropathy, British Type (disorder)
Amyloid Polyneuropathy, British Type (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 4 1999 2009
CUI: C1527337
Disease: Familial Amyloid Polyneuropathy, Appalachian Type
Familial Amyloid Polyneuropathy, Appalachian Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 4 1999 2009
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.420 None 1.000 4 1 2001 2019
CUI: C0339562
Disease: Amyloid of vitreous
Amyloid of vitreous 		disease Disease or Syndrome 1 1 0.030 None 1.000 3 1 1992 2011
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		disease Endocrine System Diseases Disease or Syndrome 1 4 0.700 limited 1.000 2 4 1990 2018
CUI: C3468338
Disease: CARPAL TUNNEL SYNDROME, FAMILIAL
CARPAL TUNNEL SYNDROME, FAMILIAL 		disease Disease or Syndrome 1 1 0.120 None 1.000 2 1 1994 2001
CUI: C3864035
Disease: Bilateral carpal tunnel syndrome
Bilateral carpal tunnel syndrome 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 1 2 0.020 None 1.000 2 2 2007 2009
CUI: C0033075
Disease: Presbyopia
Presbyopia 		disease Eye Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2011 2011
CUI: C0546394
Disease: Nodular cutaneous amyloidosis
Nodular cutaneous amyloidosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C0700376
Disease: Pulmonary amyloidosis
Pulmonary amyloidosis 		disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2006 2006
CUI: C3151470
Disease: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 		disease Disease or Syndrome 1 5 0.300 None 1.000 1 5 2018 2018
CUI: C3151471
Disease: AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED 		disease Disease or Syndrome 1 1 0.300 None 1.000 1 1 2018 2018
CUI: C4024784
Disease: Amyloid deposition in the vitreous humor
Amyloid deposition in the vitreous humor 		phenotype Finding 1 0.100 None 0
CUI: C0342613
Disease: Danish type familial amyloid cardiomyopathy
Danish type familial amyloid cardiomyopathy 		disease Disease or Syndrome 2 2 0.100 None 1.000 13 2 1988 2017
CUI: C0936273
Disease: Familial Amyloid Polyneuropathy, Type IV
Familial Amyloid Polyneuropathy, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 4 1999 2009
CUI: C1719315
Disease: Hereditary cardiac amyloidosis
Hereditary cardiac amyloidosis 		disease Disease or Syndrome 2 1 0.020 None 1.000 2 1 1999 2008
CUI: C0239233
Disease: Early satiety
Early satiety 		phenotype Mental Disorders Sign or Symptom 2 0.010 None 1.000 1 2014 2014
CUI: C0849888
Disease: psychological disturbance
psychological disturbance 		disease Mental or Behavioral Dysfunction 2 1 0.010 None 1.000 1 1 2018 2018
CUI: C1321587
Disease: Breathing abnormally deep
Breathing abnormally deep 		phenotype Respiratory Tract Diseases Sign or Symptom 2 1 0.010 None 1.000 1 1 2018 2018
CUI: C1328042
Disease: type B thymoma
type B thymoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C1719316
Disease: Inherited systemic amyloidosis
Inherited systemic amyloidosis 		disease Disease or Syndrome 2 1 0.010 None 1.000 1 1999 1999
CUI: C0158328
Disease: Trigger Finger Disorder
Trigger Finger Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.100 None 0