TTR, transthyretin, 7276

N. diseases: 258; N. variants: 56
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.
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 43 50 0.700 0.965 348 48 1956 2018
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 25 6 0.700 1.000 18 3 1991 2018
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 5 0.600 1.000 166 2 1983 2018
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
disease Endocrine System Diseases Disease or Syndrome 1 3 0.600 3 3 1991 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 832 120 0.500 0.961 465 6 1981 2018
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
disease Disease or Syndrome 1 42 0.400 76 42 1980 2013
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
disease Disease or Syndrome 1 42 0.400 73 42 1984 2013
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15 3 0.400 0.974 40 1981 2018
Familial Amyloid Neuropathy, Portuguese Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 5 1 0.380 1.000 12 1991 2010
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1176 23 0.320 4 2007 2009
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.310 1.000 5 1985 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.310 1.000 5 1985 2010
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 309 8 0.310 1.000 2 2017 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.310 strong 1.000 1 2 2006 2006
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 327 287 0.310 limited 1.000 1 2005 2005
CUI: C0391976
Disease: Pain Disorder
Pain Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 29 1 0.300 strong 9 1986 2018
Familial Amyloid Polyneuropathy, Type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 4 1999 2010
CUI: C0268386
Disease: Amyloid Polyneuropathy, Swiss Type
Amyloid Polyneuropathy, Swiss Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 4 1999 2010
Familial Amyloid Polyneuropathy, Appalachian Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 4 1999 2010
Familial amyloid polyneuropathy, type VI
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 4 1999 2010
Amyloid Polyneuropathy, British Type (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 3 1 0.300 4 1999 2010
Familial Amyloid Polyneuropathy, Jewish Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 4 1999 2010
Familial Amyloid Polyneuropathy, Type V
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 5 8 0.300 4 1999 2010
CUI: C3889979
Disease: Periodic Fever Syndrome
Periodic Fever Syndrome
disease Disease or Syndrome 31 1 0.300 strong 2 1993 2001
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.300 2 2008 2009