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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.090 None 0.889 9 4 1998 2018
CUI: C0033844
Disease: Pseudotumor
Pseudotumor 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 11 0.010 None 1.000 1 1998 1998
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.400 strong 1.000 16 1996 2020
CUI: C0342153
Disease: Congenital thyroid hypoplasia
Congenital thyroid hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 4 5 0.100 None 1.000 11 2 1997 2016
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 11 3 0.470 None 1.000 7 1998 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2003 2005
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 2018 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 1 2014 2014
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0018213
Disease: Graves Disease
Graves Disease 		disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.500 None 0.951 285 28 1983 2020
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		disease Endocrine System Diseases Disease or Syndrome 279 27 0.500 None 0.974 114 7 1991 2020
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 211 49 0.100 None 0.957 69 2 1993 2020
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.900 strong 0.950 60 11 1996 2019
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		disease Endocrine System Diseases Disease or Syndrome 1 9 0.800 None 1.000 37 9 1994 2014
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 0.944 36 4 1992 2019
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 19 0.800 None 1.000 36 17 1995 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 0.971 35 1996 2020
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 230 26 0.400 moderate 0.933 30 1 1992 2019
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 107 15 0.100 None 1.000 28 1 1987 2018
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 37 7 0.400 None 1.000 20 4 1995 2019
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.100 None 1.000 19 7 1993 2019
CUI: C0018021
Disease: Goiter
Goiter 		phenotype Endocrine System Diseases Disease or Syndrome 142 19 0.200 None 1.000 16 1 1991 2018
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 40 10 0.400 strong 1.000 16 4 2001 2019
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		disease Disease or Syndrome 133 54 0.100 None 0.938 16 2000 2018
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 15 1 2002 2017