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: 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
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: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 6 0.700 strong 1.000 13 2 1997 2017
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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.600 None 0.930 43 1 1992 2018
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.600 None 0.964 28 1992 2019
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 26 0.510 None 1.000 2 2003 2005
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: 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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.400 None 0.906 53 1991 2018
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: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.400 None 0.926 27 1 1993 2013
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis
disease Endocrine System Diseases Disease or Syndrome 37 7 0.400 None 1.000 20 4 1995 2019
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: 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
Generalized Thyroid Hormone Resistance
disease Endocrine System Diseases Disease or Syndrome 45 34 0.400 strong 1.000 15 1 2002 2017
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome
disease Endocrine System Diseases Disease or Syndrome 25 5 0.400 strong 1.000 13 1 2002 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.360 None 1.000 7 1991 2002
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma
disease Neoplasms Neoplastic Process 183 5 0.340 None 1.000 5 1993 2018
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 161 76 0.330 None 1.000 4 1993 2007
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
disease Neoplasms Neoplastic Process 232 3 0.330 None 1.000 4 1991 2008
CUI: C3714618
Disease: Primary Hyperthyroidism
Primary Hyperthyroidism
disease Endocrine System Diseases Disease or Syndrome 10 0.320 None 1.000 5 1993 2010
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.320 None 1.000 3 1991 2008