COX7B, cytochrome c oxidase subunit 7B, 1349

N. diseases: 104; N. variants: 3
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. 23122588 2012
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.600 Biomarker disease GENOMICS_ENGLAND Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. 9747372 1998
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.600 Biomarker disease CTD_human
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.600 CausalMutation disease CLINVAR
CUI: C3550921
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 		0.600 Biomarker disease GENOMICS_ENGLAND