TKT, transketolase, 7086

N. diseases: 92; N. variants: 4
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.
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
disease Disease or Syndrome 1 2 0.710 moderate 1.000 2 2 2016 2019
CUI: C0043121
Disease: Wernicke Encephalopathy
Wernicke Encephalopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 9 1 0.320 None 1.000 3 1986 1993
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.320 None 1.000 2 1987 2015
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.300 None 1.000 1 2009 2009
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 1 2002 2002
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell
disease Neoplasms Neoplastic Process 218 5 0.300 None 1.000 1 2002 2002
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 193 0.300 None 1.000 1 2005 2005
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.300 None 1.000 1 2002 2002
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.300 None 1.000 1 2002 2002
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal
disease Neoplasms; Animal Diseases Neoplastic Process 144 0.300 None 1.000 1 2002 2002
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis
phenotype Neoplasms Neoplastic Process 186 2 0.300 None 1.000 1 2002 2002
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.300 None 1.000 1 2009 2009
CUI: C0003129
Disease: Anoxemia
Anoxemia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 33 0.300 None 1.000 1 2009 2009
CUI: C0242184
Disease: Hypoxia
Hypoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 0.300 None 1.000 1 2009 2009
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.300 None 1.000 1 2002 2002
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms
phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 1 2002 2002
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 13 2006 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 10 2006 2019
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests
phenotype Diagnostic Procedure 17 27 0.100 None 1.000 1 1 2010 2010
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
phenotype Finding 41 69 0.100 None 1.000 1 1 2016 2016
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: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior
disease Behavior and Behavior Mechanisms Individual Behavior 135 0.100 None 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 192 26 0.100 None 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0