MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.740 Biomarker disease CTD_human
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.740 Biomarker disease HPO
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.740 CausalMutation disease CLINVAR
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.720 CausalMutation disease CLINVAR
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.720 GeneticVariation disease CLINVAR
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.600 CausalMutation disease CGI
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.600 GeneticVariation disease UNIPROT
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.500 Biomarker disease HPO
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.500 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group HPO
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.460 Biomarker disease HPO
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.400 CausalMutation disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.400 CausalMutation disease CGI
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 CausalMutation group CGI
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.400 CausalMutation disease CGI
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.380 CausalMutation disease CGI
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		0.300 CausalMutation disease CGI
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		0.300 CausalMutation disease CGI
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung 		0.300 GeneticVariation disease UNIPROT
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		0.300 CausalMutation disease CGI
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C1846386
Disease: Focal Cortical Dysplasia of Taylor, Type IIa
Focal Cortical Dysplasia of Taylor, Type IIa 		0.300 Biomarker disease CTD_human
CUI: C1846389
Disease: Focal Cortical Dysplasia of Taylor, Type IIb
Focal Cortical Dysplasia of Taylor, Type IIb 		0.300 Biomarker disease CTD_human