ERCC6L2, ERCC excision repair 6 like 2, 375748

N. diseases: 23; N. variants: 8
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. 28815563 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO