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: C4540522
Disease: GLUCOCORTICOID DEFICIENCY 5
GLUCOCORTICOID DEFICIENCY 5 		disease Disease or Syndrome 1 1 0.100 None 1.000 1 1 2014 2014
CUI: C1840364
Disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY 		disease Endocrine System Diseases Disease or Syndrome 2 5 0.020 None 1.000 2 1996 1996
CUI: C4273673
Disease: Peripheral resistance to thyroid hormone
Peripheral resistance to thyroid hormone 		disease Endocrine System Diseases Disease or Syndrome 2 0.020 None 1.000 2 1996 1996
CUI: C4476953
Disease: Abnormal response to ACTH stimulation test
Abnormal response to ACTH stimulation test 		phenotype Finding 2 0.100 None 0
CUI: C2937288
Disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT 		disease Endocrine System Diseases Disease or Syndrome 4 40 0.040 None 1.000 4 1992 1996
CUI: C3489796
Disease: Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 		disease Endocrine System Diseases Disease or Syndrome 4 3 0.040 None 1.000 4 1992 1996
CUI: C0342198
Disease: Thyrotoxicosis due to pituitary thyroid hormone resistance
Thyrotoxicosis due to pituitary thyroid hormone resistance 		disease Endocrine System Diseases Disease or Syndrome 4 0.010 None 1.000 1 1996 1996
CUI: C4476955
Disease: Impaired cortisol response to insulin stimulation test
Impaired cortisol response to insulin stimulation test 		phenotype Finding 5 0.100 None 0
CUI: C4531272
Disease: Decreased circulating dehydroepiandrosterone level
Decreased circulating dehydroepiandrosterone level 		phenotype Finding 5 0.100 None 0
CUI: C4022011
Disease: Leydig cell neoplasia
Leydig cell neoplasia 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 6 0.100 None 0
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		phenotype Finding 6 0.100 None 0
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		disease Disease or Syndrome 8 9 0.010 None 1.000 1 2014 2014
CUI: C4476786
Disease: Testicular adrenal rest tumor
Testicular adrenal rest tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 8 0.100 None 0
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		disease Disease or Syndrome 9 4 0.320 limited 1.000 2 2014 2018
CUI: C0346303
Disease: Thyrotroph adenoma
Thyrotroph adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 11 0.020 None 1.000 2 2018 2018
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 12 4 0.010 None 1.000 1 2 2018 2018
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 18 0.300 None 1.000 1 2014 2014
CUI: C0271148
Disease: Secondary Open Angle Glaucoma
Secondary Open Angle Glaucoma 		disease Eye Diseases Disease or Syndrome 13 0.300 None 1.000 1 2016 2016
CUI: C1096666
Disease: Thyroid cancer metastatic
Thyroid cancer metastatic 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2013 2013
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 15 1 0.100 None 0
CUI: C0857899
Disease: Decreased circulating aldosterone level
Decreased circulating aldosterone level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
CUI: C0518656
Disease: Chronic fatigue
Chronic fatigue 		phenotype Pathological Conditions, Signs and Symptoms Finding 17 2 0.100 None 0
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria 		disease Disease or Syndrome 17 0.100 None 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0