Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.740 strong 1.000 0 5 2015 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		disease 0.720 strong 1.000 0 6 2015 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 1.000 1 5 2003 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.500 None 0.983 1 7 2004 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease 0.500 None 0.967 1 5 2005 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.500 limited 1.000 0 1 2009 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		disease 0.400 None 1.000 1 2 2008 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.200 None 0.957 0 3 2012 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease 0.160 None 1.000 2 4 2011 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype 0.140 None 1.000 1 1 2011 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease 0.110 None 1.000 1 2 2015 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease 0.110 None 1.000 1 1 2016 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.110 None 1.000 1 2 2010 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease 0.110 None 1.000 1 2 2012 2014
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.110 None 1.000 0 1 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		phenotype 0.100 None 1.000 1 1 2016 2016