TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
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: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0700502
Disease: Acquired hypothyroidism
Acquired hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 13 2 0.020 None 1.000 2 1 1994 2005
CUI: C4023188
Disease: Activating thyroid-stimulating hormone receptor defect
Activating thyroid-stimulating hormone receptor defect 		phenotype Finding 1 0.100 None 0
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.020 None 1.000 2 2006 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2012 2012
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		disease Neoplasms Neoplastic Process 135 0.010 None 1.000 1 1999 1999
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.400 None 0.926 27 1 1993 2013
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		disease Neoplasms Neoplastic Process 49 0.300 None 1.000 1 1993 1993
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic 		disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 1993 1993
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic 		disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 1993 1993
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 1993 1993
CUI: C0311361
Disease: Adenomatous goiter
Adenomatous goiter 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 23 4 0.010 None 1.000 1 1996 1996
CUI: C0750887
Disease: Adrenal Cancer
Adrenal Cancer 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 20 0.300 None 1.000 1 2009 2009
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.300 None 1.000 1 2009 2009
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 1999 1999
CUI: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.040 None 1.000 4 1991 2012
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		disease Neoplasms Neoplastic Process 232 3 0.330 None 1.000 4 1991 2008
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		disease Neoplasms Neoplastic Process 392 16 0.030 None 1.000 3 1994 2000
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome 		disease Immune System Diseases Disease or Syndrome 99 17 0.100 None 1.000 1 1 2017 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.030 None 1.000 3 1999 2018