COX6B1, cytochrome c oxidase subunit 6B1, 1340

N. diseases: 45; N. variants: 4
Disease: Hydrocephalus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.010 GeneticVariation disease BEFREE Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. 24781756 2015