DUOX2, dual oxidase 2, 50506

N. diseases: 150; N. variants: 29
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 0.976 42 11 2002 2019
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 15 0.700 strong 1.000 20 15 2002 2018
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 26 0.500 None 1.000 2 2005 2006
CUI: C0018021
Disease: Goiter
Goiter 		phenotype Endocrine System Diseases Disease or Syndrome 142 19 0.470 strong 1.000 8 2 2008 2019
CUI: C3827793
Disease: Transient hypothyroxinaemia of prematurity
Transient hypothyroxinaemia of prematurity 		disease Disease or Syndrome 6 0.380 strong 0.889 9 2002 2019
CUI: C1578691
Disease: Myxedema, Congenital
Myxedema, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome; Congenital Abnormality 4 0.300 None 1.000 2 2005 2006
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 6 7 0.300 None 1.000 2 2010 2011
CUI: C2750949
Disease: Iodide organification defect
Iodide organification defect 		phenotype Finding 2 0.300 strong 1.000 1 2016 2016
CUI: C4749351
Disease: Genetic transient congenital hypothyroidism
Genetic transient congenital hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2014 2014
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.150 None 1.000 5 2005 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 15 1 2002 2017
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 2 0.100 None 1.000 13 2 2002 2018
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 105 23 0.100 None 1.000 11 1996 2019
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 11 5 0.100 None 1.000 10 2 2006 2018
CUI: C0022346
Disease: Icterus
Icterus 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease Stomatognathic Diseases Disease or Syndrome 115 2 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0586553
Disease: Raised TSH level
Raised TSH level 		phenotype Endocrine System Diseases Finding 13 0.100 None 0
CUI: C4022845
Disease: Decreased T3/T4 ratio
Decreased T3/T4 ratio 		phenotype Finding 1 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0