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: rs45517411
rs45517411
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis. 24789117 2015
dbSNP: rs45517411
rs45517411
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. 25782670 2015
dbSNP: rs45517411
rs45517411
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR SNP identification, haplotype analysis, and parental origin of mutations in TSC2. 12136241 2002
dbSNP: rs45517411
rs45517411
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999
dbSNP: rs45517411
rs45517411
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. 9328481 1997