DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Tuberous Sclerosis ×

Gene: TSC1 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

TSC complex subunit 1

0.440

0.808

1.00

CUI:	C0041341
Disease:	Tuberous Sclerosis

Tuberous Sclerosis

disease

0.900

definitive

0.981

0

1990

2020