ERCC6L2, ERCC excision repair 6 like 2, 375748

N. diseases: 23; N. variants: 8
Disease: Bone marrow failure syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. 27185855 2016
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. 24507776 2014
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 GermlineCausalMutation disease ORPHANET ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. 24507776 2014
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 CausalMutation disease CLINVAR
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 Biomarker disease CTD_human