DisGeNET - a database of gene-disease associations

TUBEROUS SCLEROSIS 2 (disorder), C1860707

Variant: rs1064792923 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1064792923

PKD1 ; TSC2

0.700

CausalMutation

CLINVAR

Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

24789117

2015

dbSNP:

rs1064792923

PKD1 ; TSC2

0.700

CausalMutation

CLINVAR

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

25498131

2014

dbSNP:

rs1064792923

PKD1 ; TSC2

0.700

CausalMutation

CLINVAR

LOVD v.2.0: the next generation in gene variant databases.

21520333

2011

dbSNP:

rs1064792923

PKD1 ; TSC2

0.700

CausalMutation

CLINVAR

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

10205261

1999

dbSNP:

rs1064792923

PKD1 ; TSC2

0.700

CausalMutation

CLINVAR

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

9328481

1997