DisGeNET - a database of gene-disease associations

Source: ALL

Disease: dowling-degos disease ×

Gene: SPTBN2 ×

Results per page

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6712
Gene Symbol:	SPTBN2

SPTBN2

CUI:	C3714534
Disease:	dowling-degos disease

dowling-degos disease

0.010

GeneticVariation

BEFREE

This highlighted heterozygous de novo nonsynonymous variants in SPTBN2 as causative in three DDD probands.

2019