TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
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: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype Digestive System Diseases Finding 103 6 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
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 1
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.100 None 0 1
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 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: 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue
phenotype Finding 27 4 0.100 None 0 1
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: C0917799
Disease: Hypersomnia
Hypersomnia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 70 7 0.100 None 0
Thyroid defect in oxidation and organification of iodide
phenotype Finding 1 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: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0 1
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease Stomatognathic Diseases Disease or Syndrome 115 2 0.100 None 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 1990 1990
CUI: C4329703
Disease: Defective Thyroglobulin Synthesis
Defective Thyroglobulin Synthesis
disease Disease or Syndrome 2 0.020 None 1.000 2 1990 1991
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 1991 1991
CUI: C0027145
Disease: Myxedema
Myxedema
disease Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1991 1991
CUI: C0024530
Disease: Malaria
Malaria
disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 1994 1994