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.
CUI: C3280817
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		disease Disease or Syndrome 1 7 0.700 strong 1.000 6 7 2012 2016
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: C4022846
Disease: Increased T3/T4 ratio
Increased T3/T4 ratio 		phenotype Finding 2 0.100 None 0
CUI: C0231254
Disease: Increased body mass index
Increased body mass index 		phenotype Finding 4 0.100 None 0
CUI: C0520678
Disease: Postpartum psychosis
Postpartum psychosis 		disease Mental Disorders Mental or Behavioral Dysfunction 19 0.010 None 1.000 1 2001 2001
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 2 0.010 None 1.000 1 1998 1998
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: C0013144
Disease: Drowsiness
Drowsiness 		phenotype Mental Disorders Finding 31 3 0.100 None 0
CUI: C0240225
Disease: Liver mass
Liver mass 		phenotype Disease or Syndrome 36 0.010 None 1.000 1 2010 2010
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype Finding 39 24 0.300 strong 1.000 1 2016 2016
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		disease Endocrine System Diseases Disease or Syndrome 45 34 0.400 strong 1.000 18 1 1988 2019
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 0.010 None 1.000 1 1996 1996
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 61 0.010 None 1.000 1 1998 1998
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0
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: C0025281
Disease: Meniere Disease
Meniere Disease 		disease Otorhinolaryngologic Diseases Disease or Syndrome 69 36 0.010 None 1.000 1 2017 2017
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0
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: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 1997 1997
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		group Musculoskeletal Diseases Disease or Syndrome 82 2 0.010 None 1.000 1 2019 2019
CUI: C0019825
Disease: Hoarseness
Hoarseness 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.100 None 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.100 None 0
CUI: C2830004
Disease: Somnolence
Somnolence 		phenotype Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 87 8 0.100 None 0
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 88 0.010 None 1.000 1 1996 1996