DisGeNET - a database of gene-disease associations

ERCC3, ERCC excision repair 3, TFIIH core complex helicase subunit, 2071

N. diseases: 253; N. variants: 28

Disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE ×

Variant: rs121913046 ×

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:

rs121913046

rs121913046

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C4225344
Disease:

TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE

G

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913046

rs121913046

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C4225344
Disease:

TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE

0.800

GeneticVariation

UNIPROT