COX7B, cytochrome c oxidase subunit 7B, 1349

N. diseases: 104; N. variants: 3
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 Biomarker disease BEFREE Downregulation of the COX7B ortholog (cox7B) in medaka (Oryzias latipes) resulted in microcephaly and microphthalmia that recapitulated the MLS phenotype and demonstrated an essential function of complex IV activity in vertebrate CNS development. 23122588 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO