DisGeNET - a database of gene-disease associations

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

N. diseases: 257; N. variants: 91

Disease: PREMATURE OVARIAN FAILURE 11 ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4310783
Disease:	PREMATURE OVARIAN FAILURE 11

PREMATURE OVARIAN FAILURE 11

0.600

GeneticVariation

disease

UNIPROT

CSB-PGBD3 Mutations Cause Premature Ovarian Failure.

26218421

2015

CUI:	C4310783
Disease:	PREMATURE OVARIAN FAILURE 11

PREMATURE OVARIAN FAILURE 11

0.600

CausalMutation

disease

CLINVAR

CUI:	C4310783
Disease:	PREMATURE OVARIAN FAILURE 11

PREMATURE OVARIAN FAILURE 11

0.600

Biomarker

disease

CTD_human