TXNRD2, thioredoxin reductase 2, 10587

N. diseases: 134; N. variants: 31
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: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
Decreased circulating aldosterone level
phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.100 None 0
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria
disease Disease or Syndrome 17 0.100 None 0
CUI: C0003123
Disease: Anorexia
Anorexia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 74 1 0.100 None 0
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0009806
Disease: Constipation
Constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.100 None 0
Decreased circulating cortisol level
phenotype Immune System Diseases; Endocrine System Diseases Finding 23 2 0.100 None 0
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 125 2 0.100 None 0
Decreased circulating dehydroepiandrosterone level
phenotype Finding 5 0.100 None 0
Generalized Thyroid Hormone Resistance
disease Endocrine System Diseases Disease or Syndrome 45 34 0.100 None 0.935 31 7 1992 2018
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
disease Endocrine System Diseases Disease or Syndrome 4 40 0.040 None 1.000 4 1992 1996
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
disease Endocrine System Diseases Disease or Syndrome 4 3 0.040 None 1.000 4 1992 1996
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.020 None 1.000 2 1995 1997
Peripheral resistance to thyroid hormone
disease Endocrine System Diseases Disease or Syndrome 2 0.020 None 1.000 2 1996 1996
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
disease Endocrine System Diseases Disease or Syndrome 2 5 0.020 None 1.000 2 1996 1996
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis
disease Endocrine System Diseases Disease or Syndrome 37 7 0.010 None 1.000 1 1996 1996