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: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C4023188
Disease: Activating thyroid-stimulating hormone receptor defect
Activating thyroid-stimulating hormone receptor defect 		phenotype Finding 1 0.100 None 0
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		phenotype Sign or Symptom 31 7 0.100 None 0
CUI: C4225553
Disease: THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC
THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 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: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C2678303
Disease: Hoarse cry
Hoarse cry 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 7 0.100 None 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C0917799
Disease: Hypersomnia
Hypersomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 70 7 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C1863959
Disease: Hyperthyroidism, Familial Gestational
Hyperthyroidism, Familial Gestational 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 1 1 0.700 None 1.000 1 1 1998 1998
CUI: C0750887
Disease: Adrenal Cancer
Adrenal Cancer 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 20 0.300 None 1.000 1 2009 2009
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		disease Neoplasms Neoplastic Process 218 5 0.300 None 1.000 1 1997 1997
CUI: C4722488
Disease: Thyroid Stimulating Hormone Resistance
Thyroid Stimulating Hormone Resistance 		phenotype Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		disease Neoplasms Neoplastic Process 49 0.300 None 1.000 1 1993 1993