Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
0.700 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. 27185855 2016
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
0.700 Biomarker disease GENOMICS_ENGLAND ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. 24507776 2014
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
0.700 GermlineCausalMutation disease ORPHANET ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. 24507776 2014
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
0.700 CausalMutation disease CLINVAR
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
0.700 Biomarker disease CTD_human