TOP1, DNA topoisomerase I, 7150

N. diseases: 143; N. variants: 10
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.
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 5 2 2010 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.040 None 1.000 4 2012 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 3 1 2010 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.020 None 1.000 2 2010 2015
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 2 1 2010 2013
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7
disease Neoplastic Process 44 3 0.020 None 1.000 2 2013 2013
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
phenotype Laboratory Procedure 96 212 0.100 None 1.000 1 1 2012 2012
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result
phenotype Laboratory or Test Result 65 113 0.100 None 1.000 1 1 2012 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
Treatment related acute myeloid leukaemia
disease Neoplastic Process 65 4 0.010 None 1.000 1 1998 1998
CUI: C2364016
Disease: Systemic sclerosis [scleroderma]
Systemic sclerosis [scleroderma]
disease Disease or Syndrome 11 0.010 None 1.000 1 1993 1993
CUI: C4525546
Disease: Chicken Lymphoma
Chicken Lymphoma
disease Neoplastic Process 5 0.010 None 1.000 1 2020 2020
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer
disease Neoplastic Process 160 18 0.010 None 1.000 1 2015 2015
DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT
phenotype Finding 2 1 0.100 None 0 1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2017 2017
CUI: C0013221
Disease: Drug toxicity
Drug toxicity
group Chemically-Induced Disorders Injury or Poisoning 86 0.300 None 1.000 1 2010 2010
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug
group Chemically-Induced Disorders Pathologic Function 87 0.300 None 1.000 1 2010 2010
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2019 2019
CUI: C0265987
Disease: Nevus comedonicus
Nevus comedonicus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 6 0.010 None 1.000 1 2018 2018
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.010 None 1.000 1 2018 2018