Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.400 Biomarker disease CTD_human Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. 21062901 2011
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.400 Biomarker disease CTD_human Evidence for population variation in TSC1 and TSC2 gene expression. 21345208 2011
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		0.400 Biomarker disease CTD_human Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. 21062901 2011
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		0.400 Biomarker disease CTD_human Evidence for population variation in TSC1 and TSC2 gene expression. 21345208 2011
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.400 Biomarker disease CTD_human Management of epilepsy in tuberous sclerosis complex. 18345974 2008
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		0.400 Biomarker disease CTD_human Management of epilepsy in tuberous sclerosis complex. 18345974 2008
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		0.400 Therapeutic disease CTD_human Combination of a rapamycin analog (CCI-779) and interferon-gamma is more effective than single agents in treating a mouse model of tuberous sclerosis complex. 16845661 2006
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.400 Biomarker disease CTD_human Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 10732801 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.400 Biomarker disease HPO
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		0.400 Biomarker disease HPO
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		0.400 Biomarker disease HPO
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		0.130 Biomarker disease BEFREE Its clinical presentation includes MEN 1-related tumours such as parathyroid and anterior pituitary tumours in possible association with gonadal, adrenal, renal and thyroid tumours as well as facial angiofibromas, colagenomas and meningiomas. 26762354 2016
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		0.130 Biomarker disease BEFREE Facial angiofibromas are a major diagnostic sign for tuberous sclerosis (TS) and MEN1, and the former is probably the first disease to be considered by a geneticist when such lesions are found. 20186817 2010
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		0.130 GeneticVariation disease BEFREE Since prevalence of some cutaneous diseases varies among different ethnic groups, we examined the frequency of facial angiofibromas in Japanese patients with familial MEN 1. 11200937 2000
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		0.130 Biomarker disease HPO
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.100 Biomarker disease HPO
Entrez Id: 100144748
Gene Symbol: KLLN
KLLN 		0.100 Biomarker disease HPO
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 Biomarker disease HPO
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.100 Biomarker disease HPO
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.100 Biomarker disease HPO
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.100 Biomarker disease HPO
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.100 Biomarker disease HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.100 Biomarker disease HPO
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.100 Biomarker disease HPO