HCCS, holocytochrome c synthase, 3052

N. diseases: 135; N. variants: 4
Disease: Anophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.110 GeneticVariation disease BEFREE To analyze if mutations in HCCS, encoding the mitochondrial holocytochrome c-type synthase, are associated with phenotypes other than the microphthalmia with linear skin defects (MLS) syndrome, including severe eye malformations such as microphthalmia and/or anophthalmia. 17893649 2007
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.110 Biomarker disease HPO