THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
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.
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
disease Disease or Syndrome 1 7 0.700 strong 1.000 6 7 2012 2016
Generalized Thyroid Hormone Resistance
disease Endocrine System Diseases Disease or Syndrome 45 34 0.400 strong 1.000 18 1 1988 2019
CUI: C0009806
Disease: Constipation
Constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.400 strong 1.000 1 2016 2016
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.400 strong 1.000 1 2016 2016
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.320 strong 1.000 3 2014 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.320 strong 1.000 3 2014 2017
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.310 strong 1.000 2 2015 2016
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.300 None 1.000 1 2001 2001
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.300 None 1.000 1 2012 2012
CUI: C0151686
Disease: Growth retardation
Growth retardation
phenotype Nutritional and Metabolic Diseases; Mental Disorders Pathologic Function 1 0.300 strong 1.000 1 2016 2016
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay
phenotype Finding 39 24 0.300 strong 1.000 1 2016 2016
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2012 2012
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 51 2 0.300 strong 1.000 1 2016 2016
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome
disease Endocrine System Diseases Disease or Syndrome 25 5 0.230 None 1.000 4 1993 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 0.909 11 1 2009 2020
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.200 None 1.000 1 2007 2007
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.110 None 1.000 1 1 2017 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 9 2 2012 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 9 1 2012 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 9 1 2012 2016
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2018 2018
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 1 1 2019 2019
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.100 None 0