DisGeNET - a database of gene-disease associations

ERCC6, ERCC excision repair 6, chromatin remodeling factor, 2074

N. diseases: 257; N. variants: 91

Disease: UV-SENSITIVE SYNDROME 1 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121917901

rs121917901

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C3551173
Disease:

UV-SENSITIVE SYNDROME 1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs121917902

rs121917902

Entrez Id:	2074;267004
Gene Symbol:	ERCC6;PGBD3

ERCC6;PGBD3

CUI:	C3551173
Disease:

UV-SENSITIVE SYNDROME 1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs121917903

rs121917903

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C3551173
Disease:

UV-SENSITIVE SYNDROME 1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs373227647

rs373227647

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C3551173
Disease:

UV-SENSITIVE SYNDROME 1

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs376526037

rs376526037

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C3551173
Disease:

UV-SENSITIVE SYNDROME 1

A

0.700

CausalMutation

CLINVAR