DUOXA2, dual oxidase maturation factor 2, 405753

N. diseases: 33; 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: C0342196
Disease: Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 5 		disease Endocrine System Diseases Disease or Syndrome 4 3 0.700 strong 1.000 4 3 2008 2016
CUI: C3827793
Disease: Transient hypothyroxinaemia of prematurity
Transient hypothyroxinaemia of prematurity 		disease Disease or Syndrome 6 0.320 strong 1.000 3 2008 2016
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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.130 None 1.000 3 2010 2015
CUI: C0018021
Disease: Goiter
Goiter 		phenotype Endocrine System Diseases Disease or Syndrome 142 19 0.110 None 1.000 1 1 2015 2015
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 0.100 None 1.000 11 1 2008 2019
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 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: C0917799
Disease: Hypersomnia
Hypersomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 70 7 0.100 None 0
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 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: 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: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease Stomatognathic Diseases Disease or Syndrome 115 2 0.100 None 0
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 0.020 None 1.000 2 2008 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2008 2008