DIO1, iodothyronine deiodinase 1, 1733

N. diseases: 51; N. variants: 3
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: C0020551
Disease: Hyperthyroxinemia
Hyperthyroxinemia 		disease Endocrine System Diseases Disease or Syndrome 5 1 0.300 None 1.000 1 1988 1988
CUI: C0015190
Disease: Euthyroid Sick Syndromes
Euthyroid Sick Syndromes 		disease Endocrine System Diseases Disease or Syndrome 9 1 0.030 None 1.000 3 2015 2018
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 18 2 0.010 None 1.000 1 2008 2008
CUI: C0342199
Disease: Iodine deficiency syndrome
Iodine deficiency syndrome 		disease Endocrine System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2013 2013
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		disease Neoplastic Process 22 11 0.010 None 1.000 1 2015 2015
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		phenotype Laboratory Procedure 24 42 0.100 None 1.000 2 1 2013 2015
CUI: C0349218
Disease: Recurrent depressive disorder
Recurrent depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 29 9 0.020 None 0.500 2 2016 2016
CUI: C1849718
Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 2017 2017
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		phenotype Laboratory Procedure 42 83 0.100 None 1.000 1 1 2013 2013
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		group Laboratory Procedure 51 134 0.100 None 1.000 1 1 2013 2013
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 75 1 0.020 None 1.000 2 2018 2018
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.300 None 1.000 1 2007 2007
CUI: C0032019
Disease: Pituitary Neoplasms
Pituitary Neoplasms 		group Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 131 1 0.010 None 1.000 1 2002 2002
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma 		disease Neoplasms Neoplastic Process 183 5 0.010 None 1.000 1 2005 2005
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.010 None 1.000 1 2005 2005
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.200 None 1.000 1 2001 2001
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 230 26 0.300 None 1.000 1 2007 2007
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		disease Endocrine System Diseases Disease or Syndrome 279 27 0.020 None 1.000 2 2019 2019
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		disease Neoplasms Neoplastic Process 293 28 0.010 None 1.000 1 2005 2005
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.020 None 1.000 2 2019 2019
CUI: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.010 None 1.000 1 2005 2005
CUI: C0018213
Disease: Graves Disease
Graves Disease 		disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.010 None 1.000 1 2013 2013
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 2017 2017
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.020 None 1.000 2 2009 2017
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.020 None 1.000 2 2009 2017