DisGeNET - a database of gene-disease associations

Source: ALL

Disease: TUBEROUS SCLEROSIS 2 (disorder) ×

Variant: rs748011804 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs748011804

PIK3CD

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

TUBEROUS SCLEROSIS 2 (disorder)

0.010

GeneticVariation

BEFREE

Mutations were detected in 3 (21%) of 14 analyzed tumors: (1) c.3200A>T substitution in PIK3CB encoding PI3K 110β subunit, (2) c.1040A>G substitution in tuberous sclerosis complex (TSC2) encoding tuberin, mTOR down-regulator (3) c.6625C>G substitution in mTOR.

28777148

2019