DUOX2, dual oxidase 2, 50506

N. diseases: 82; N. variants: 17
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; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 66 18 0.900 strong 1.000 42 3 2002 2018
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 1 10 0.600 8 10 2002 2015
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 23 0.500 2 2006 2006
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 28 5 0.300 strong 5 2002 2017
CUI: C1578691
Disease: Myxedema, Congenital
Myxedema, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Congenital Abnormality; Disease or Syndrome 4 0.300 2 2006 2006
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 6 7 0.300 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 267 83 0.160 1.000 6 2006 2016
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 14 1 2002 2017
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
phenotype Finding 62 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0586553
Disease: Raised TSH level
Raised TSH level
phenotype Finding 11 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C0237326
Disease: Dyschezia
Dyschezia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 177 0.100 0
CUI: C0917799
Disease: Hypersomnia
Hypersomnia
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 25 3 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C4072822
Disease: Wide bregma sutures
Wide bregma sutures
phenotype Finding 62 0.100 0
CUI: C4072821
Disease: Large, late-closing fontanelle
Large, late-closing fontanelle
phenotype Finding 62 0.100 0
CUI: C4072820
Disease: Large bregma sutures
Large bregma sutures
phenotype Finding 62 0.100 0
CUI: C4022845
Disease: Decreased T3/T4 ratio
Decreased T3/T4 ratio
phenotype Finding 1 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0