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: 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: 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: 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: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.400 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: 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: 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: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 4 0.400 strong 1.000 1 2016 2016
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 0.909 11 1 2009 2020
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 2 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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.070 None 1.000 7 1989 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 1.000 5 1989 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.050 None 1.000 5 1990 2018
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.040 None 1.000 4 1987 1989
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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.040 None 1.000 4 1985 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 1993 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 1987 2003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.020 None 1.000 2 1994 2002
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.020 None 1.000 2 2002 2005
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.020 None 1.000 2 2002 2005