TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. 15963462 2005
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. 15595939 2005
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. 15024740 2004
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. 15340059 2004
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. 12271141 2002
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. 10607950 2000
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. 10735580 1999
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067 1999
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911 1999
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. 10069705 1999
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910 1998
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 10732801 1998
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313 1998
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. 9302281 1997
dbSNP: rs45517418
rs45517418
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 GeneticVariation UNIPROT Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881 1996