CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4016600
Disease: PARKINSONISM/MELAS OVERLAP SYNDROME
PARKINSONISM/MELAS OVERLAP SYNDROME 		disease Finding 1 1 0.100 None 0 1
CUI: C0272220
Disease: Chronic granulomatous disease, type II
Chronic granulomatous disease, type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 1989 1989
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		disease Disease or Syndrome 4 6 0.100 None 1.000 5 5 1996 2001
CUI: C0345319
Disease: Cyst of hydatid of Morgagni
Cyst of hydatid of Morgagni 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Congenital Abnormality 4 0.010 None 1.000 1 2015 2015
CUI: C0030757
Disease: Pediculus capitis infestation
Pediculus capitis infestation 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.030 None 1.000 3 2015 2018
CUI: C3661525
Disease: Autosomal Recessive Chronic Granulomatous Disease
Autosomal Recessive Chronic Granulomatous Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2009 2009
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		disease Disease or Syndrome 10 2 0.090 None 1.000 9 1 1996 2013
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2002 2002
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		phenotype Finding 11 0.100 None 0
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 12 3 0.510 None 1.000 1 1 2000 2000
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 12 0.100 None 0
CUI: C1863999
Disease: Peroxisome Biogenesis Disorder, Complementation Group D
Peroxisome Biogenesis Disorder, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.010 None 1.000 1 2002 2002
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 142 0.010 None 1.000 1 2007 2007
CUI: C0851886
Disease: Pneumocystis Infections
Pneumocystis Infections 		group Infections Disease or Syndrome 18 0.010 None 1.000 1 2018 2018
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 20 2 0.100 None 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		disease Cardiovascular Diseases Disease or Syndrome 20 0.100 None 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.100 None 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		phenotype Finding 20 1 0.100 None 0
CUI: C0013502
Disease: Echinococcosis
Echinococcosis 		disease Infections Disease or Syndrome 21 1 0.010 None 1.000 1 2015 2015
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		phenotype Finding 21 4 0.100 None 0
CUI: C0041227
Disease: Trypanosomiasis
Trypanosomiasis 		disease Infections Disease or Syndrome 23 0.010 None 1.000 1 2011 2011
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		disease Congenital Abnormality 25 7 0.010 None 1.000 1 1999 1999
CUI: C4553297
Disease: Cystic Echinocccosis
Cystic Echinocccosis 		disease Infections Disease or Syndrome 26 1 0.010 None 1.000 1 2015 2015
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype Finding 26 0.100 None 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		phenotype Finding 27 3 0.100 None 0