COX7B, cytochrome c oxidase subunit 7B, 1349

N. diseases: 104; N. variants: 3
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
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		0.520 GeneticVariation disease BEFREE MLS syndrome is genetically heterogeneous given that heterozygous mutations in HCCS or COX7B have been identified in MLS-affected females. 25772934 2015
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		0.520 GermlineCausalMutation disease ORPHANET 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: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		0.520 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: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		0.520 Biomarker disease CTD_human
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: C0026010
Disease: Microphthalmos
Microphthalmos 		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
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker disease HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.100 Biomarker disease HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0003537
Disease: Aphasia
Aphasia 		0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013528
Disease: Echolalia
Echolalia 		0.100 Biomarker phenotype HPO
CUI: C0014588
Disease: Epispadias
Epispadias 		0.100 Biomarker group HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO