Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.690 Biomarker GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.690 Biomarker GENOMICS_ENGLAND Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050

2007
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.690 Biomarker GENOMICS_ENGLAND Inherited interstitial lung disease. 15331184

2004
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.690 Biomarker GENOMICS_ENGLAND Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. 12112044

2002
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.690 Biomarker GENOMICS_ENGLAND Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. 10069705

1999
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.690 Biomarker GENOMICS_ENGLAND Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 10227394

1999
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.690 Biomarker GENOMICS_ENGLAND Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607

1997