DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Severe global developmental delay ×

Gene: ERCC6 ×

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

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:	2074
Gene Symbol:	ERCC6

ERCC6

ERCC excision repair 6, chromatin remodeling factor

0.507

0.808

5.2E-22

CUI:	C1837397
Disease:	Severe global developmental delay

Severe global developmental delay

phenotype

0.100

None

0