MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 31 2008 2020
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.100 None 1.000 27 2009 2020
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.100 None 0.944 18 2017 2020
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.100 None 0.938 16 2009 2019
CUI: C4727069
Disease: Advanced Renal Cell Carcinoma
Advanced Renal Cell Carcinoma
disease Neoplastic Process 27 0.100 None 1.000 12 2006 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.100 None 1.000 10 2015 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 1.000 10 1 2010 2018
CUI: C2720434
Disease: Macroencephaly
Macroencephaly
disease Congenital Abnormality 22 3 0.090 None 1.000 9 1 2015 2019
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
disease Neoplastic Process 151 3 0.080 None 1.000 8 2014 2019
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
disease Disease or Syndrome 1 7 0.720 strong 1.000 7 7 2015 2019
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.060 None 1.000 6 2011 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.050 None 1.000 5 2 2011 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.040 None 1.000 4 2017 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.040 None 1.000 4 2013 2018
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.040 None 1.000 4 2017 2019
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.030 None 1.000 3 2013 2018
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
disease Disease or Syndrome 111 9 0.030 None 1.000 3 2013 2019
estrogen receptor-negative breast cancer
disease Neoplastic Process 356 40 0.030 None 1.000 3 2017 2019
CUI: C0240225
Disease: Liver mass
Liver mass
phenotype Disease or Syndrome 36 0.020 None 1.000 2 2018 2019
CUI: C0272138
Disease: Erythroblastosis
Erythroblastosis
disease Disease or Syndrome 89 0.020 None 1.000 2 2007 2019
Pre B-cell acute lymphoblastic leukemia
disease Neoplastic Process 90 5 0.020 None 1.000 2 2015 2017
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
phenotype Diagnostic Procedure 39 98 0.100 None 1.000 2 3 2011 2014
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2014 2017
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
disease Neoplastic Process 83 11 0.020 None 1.000 2 2008 2014