MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
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Metabolism, Inborn Errors (D008661)
Parent Node:
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Mitochondrial Diseases (D028361)
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Cytochrome-c Oxidase Deficiency (D030401)

       Child Nodes:
........expandCardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency (C565784)  LSDB  L: 00482;
........expandLeigh syndrome , French Canadian type (C537004)  LSDB  L: 00389;



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2952
Name:Cytochrome-c Oxidase Deficiency
Definition:A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
Alternative IDs:OMIM:220110
ParentIDs:MESH:D008661|MESH:D028361
TreeNumbers:C16.320.565.240 |C18.452.660.195
Synonyms:Complex IV Deficiencies |Complex IV Deficiency |Cox Deficiencies |Cox Deficiency |Cytochrome-c Oxidase Deficiencies |Cytochrome C Oxidase Deficiency |Cytochrome Oxidase Deficiencies |Cytochrome Oxidase Deficiency |Deficiencies, Complex IV |Deficiencies, Cox |Defic
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D030401
MeSH: D030401
OMIM: 220110;
MSeqDR LSDB: 00012;
MSeqDR has 2 matches in descendants: 00389; 00482;  
Genes: APOPT1; COA5; COX10; COX14; COX20; COX6B1; FASTKD2; PET100; TACO1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001427Mitochondrial inheritance
3 HP:0003355Aminoaciduria
4 HP:0001903Anemia
5 HP:0001251Ataxia
6 HP:0003688Decreased activity of cytochrome C oxidase in muscle tissue
7 HP:0001410Decreased liver function
8 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
9 HP:0002875Exertional dyspnea
10 HP:0001508Failure to thrive
11 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
12 HP:0001263Global developmental delay
NAMDC:  Mental retardation
13 HP:0003076Glycosuria
14 HP:0002240Hepatomegaly
15 HP:0003109Hyperphosphaturia
16 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
17 HP:0002490Increased CSF lactate
18 HP:0006565Increased hepatocellular lipid droplets
19 HP:0012240Increased intramyocellular lipid droplets
20 HP:0002151Increased serum lactate
21 HP:0001249Intellectual disability
22 HP:0003128Lactic acidosis
23 HP:0001270Motor delay
24 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
25 HP:0000648Optic atrophy
26 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
27 HP:0000093Proteinuria
28 HP:0000508Ptosis
NAMDC:  Ptosis
29 HP:0001994Renal Fanconi syndrome
30 HP:0000124Renal tubular dysfunction
31 HP:0002880Respiratory difficulties
32 HP:0002747Respiratory insufficiency due to muscle weakness
33 HP:0001250Seizures
NAMDC:  Seizures
34 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001312871.1(COX20):c.154A>C (p.Thr52Pro)-1-Pathogenic587777004RCV000049300; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:674340001245005357245005357NM_001312871.1:c.154A>CNP_001299800.1:p.Thr52ProOMIM Allelic Variant:614698.0001C0268237 220110 Cytochrome-c oxidase deficiency
NM_032374.4(APOPT1):c.163-1G>A84334APOPT1Pathogenic587777785RCV000144486; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:6743400014104037959104037959NM_032374.4:c.163-1G>A14:g.104037959G>AOMIM Allelic Variant:616003.0002C0268237 220110 Cytochrome-c oxidase deficiency
NM_032374.4(APOPT1):c.235C>T (p.Arg79Ter)84334APOPT1Pathogenic587777784RCV000144485; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:6743400014104038032104038032NM_032374.4:c.235C>TNP_115750.2:p.Arg79TerNC_000014.8:g.104038032C>TOMIM Allelic Variant:616003.0001C0268237 220110 Cytochrome-c oxidase deficiency
NM_032374.4(APOPT1):c.353T>C (p.Phe118Ser)84334APOPT1Pathogenic587777786RCV000144487; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:6743400014104038150104038150NM_032374.4:c.353T>CNP_115750.2:p.Phe118Ser14:g.104038150T>COMIM Allelic Variant:616003.0003C0268237 220110 Cytochrome-c oxidase deficiency
NM_032374.4(APOPT1):c.370_372delGAA (p.Glu124del)84334APOPT1Pathogenic587777787RCV000144488; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:6743400014104040453104040455NM_032374.4:c.370_372delGAANP_115750.2:p.Glu124delOMIM Allelic Variant:616003.0004C0268237 220110 Cytochrome-c oxidase deficiency
NM_001040431.2(COA3):c.215A>G (p.Tyr72Cys)28958COA3Pathogenic139877390RCV000170599; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000174095018540950185NM_001040431.2:c.215A>GNP_001035521.1:p.Tyr72CysNC_000017.10:g.40950185T>COMIM Allelic Variant:614775.0002C0268237 220110 Cytochrome-c oxidase deficiency
NM_001040431.2(COA3):c.199dupC (p.Leu67Profs)28958COA3Pathogenic757472611RCV000170598; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000174095050140950501NM_001040431.2:c.199dupCNP_001035521.1:p.Leu67ProfsNC_000017.10:g.40950501dupGOMIM Allelic Variant:614775.0001C0268237 220110 Cytochrome-c oxidase deficiency
NM_001303.3(COX10):c.587C>A (p.Thr196Lys)1352COX10Pathogenic104894555RCV000007958; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000171400552214005522NM_001303.3:c.587C>ANP_001294.2:p.Thr196LysNC_000017.10:g.14005522C>AOMIM Allelic Variant:602125.0002C0268237 220110 Cytochrome-c oxidase deficiency
NM_001303.3(COX10):c.612C>A (p.Asn204Lys)1352COX10Pathogenic104894560RCV000007956; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000171400554714005547NM_001303.3:c.612C>ANP_001294.2:p.Asn204LysNC_000017.10:g.14005547C>AOMIM Allelic Variant:602125.0001C0268237 220110 Cytochrome-c oxidase deficiency
NM_001303.3(COX10):c.674C>T (p.Pro225Leu)1352COX10Pathogenic104894556RCV000007959; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000171406324314063243NM_001303.3:c.674C>TNP_001294.2:p.Pro225LeuNC_000017.10:g.14063243C>TOMIM Allelic Variant:602125.0003C0268237 220110 Cytochrome-c oxidase deficiency
NM_001257133.1(COX14):c.57G>A (p.Met19Ile)84987COX14Pathogenic587776904RCV000024195; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000125051388350513883NM_001257133.1:c.57G>ANP_001244062.1:p.Met19Ile12:g.50513883G>AOMIM Allelic Variant:614478.0001C0268237 220110 Cytochrome-c oxidase deficiency
NM_001863.4(COX6B1):c.58C>T (p.Arg20Cys)1340COX6B1Pathogenic778740017RCV000201789; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000193614220336142203NM_001863.4:c.58C>TNP_001854.1:p.Arg20CysNC_000019.9:g.36142203C>TOMIM Allelic Variant:124089.0002C0268237 220110 Cytochrome-c oxidase deficiency
NM_001863.4(COX6B1):c.59G>A (p.Arg20His)1340COX6B1Pathogenic121909602RCV000018371; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000193614220436142204NM_001863.4:c.59G>ANP_001854.1:p.Arg20HisNC_000019.9:g.36142204G>AOMIM Allelic Variant:124089.0001C0268237 220110 Cytochrome-c oxidase deficiency
NM_004074.2(COX8A):c.115-1G>C1351COX8APathogenic869025575RCV000208577; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000116374369663743696NM_004074.2:c.115-1G>CNC_000011.9:g.63743696G>COMIM Allelic Variant:123870.0001C0268237 220110 Cytochrome-c oxidase deficiency
NM_001136194.1(FASTKD2):c.1294C>T (p.Arg432Ter)22868FASTKD2Pathogenic118203917RCV000000673; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:674340002207638988207638988NM_001136194.1:c.1294C>TNP_001129666.1:p.Arg432TerNC_000002.11:g.207638988C>TOMIM Allelic Variant:612322.0001C0268237 220110 Cytochrome-c oxidase deficiency
m.6480G>A4512MT-CO1Pathogenic199476128RCV000010304; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M64806480--NC_012920.1:m.6480G>AOMIM Allelic Variant:516030.0004C0268237 220110 Cytochrome-c oxidase deficiency
m.6930G>A4512MT-CO1Pathogenic28679680RCV000010306; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M69306930--NC_012920.1:m.6930G>AOMIM Allelic Variant:516030.0006C0268237 220110 Cytochrome-c oxidase deficiency
m.7587T>C4513MT-CO2Pathogenic199474825RCV000010294; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M75877587--NC_012920.1:m.7587T>COMIM Allelic Variant:516040.0001C0268237 220110 Cytochrome-c oxidase deficiency
m.7671T>A4513MT-CO2Pathogenic199474827RCV000010296; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M76717671--NC_012920.1:m.7671T>AOMIM Allelic Variant:516040.0003C0268237 220110 Cytochrome-c oxidase deficiency
m.7896G>A4513MT-CO2Pathogenic199474829RCV000010298; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M78967896--NC_012920.1:m.7896G>AOMIM Allelic Variant:516040.0005C0268237 220110 Cytochrome-c oxidase deficiency
m.8042_8043delAT4513MT-CO2Pathogenic199474828RCV000010297; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M80428043--NC_012920.1:m.8042_8043delATOMIM Allelic Variant:516040.0004C0268237 220110 Cytochrome-c oxidase deficiency
m.9379G>A4514MT-CO3Pathogenic267606615RCV000010293; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M93799379--NC_012920.1:m.9379G>AOMIM Allelic Variant:516050.0006C0268237 220110 Cytochrome-c oxidase deficiency
m.9487_9501delTCGCAGGATTTTTCT4514MT-CO3Pathogenic267606612RCV000010289; RCV000010290; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedGen:C4017626M94879501--NC_012920.1:m.9487_9501delTCGCAGGATTTTTCTOMIM Allelic Variant:516050.0003C0268237 220110 Cytochrome-c oxidase deficiency; C4017626 Mitochondrial complex IV deficiency with recurrent myoglobinuria
m.9537dupC4514MT-CO3Pathogenic267606614RCV000010292; RCV000144008; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M95379537--NC_012920.1:m.9537dupCOMIM Allelic Variant:516050.0005C0268237 220110 Cytochrome-c oxidase deficiency; C0023264 256000 Leigh syndrome
m.9952G>A4514MT-CO3Pathogenic267606613RCV000010291; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000M99529952--NC_012920.1:m.9952G>AOMIM Allelic Variant:516050.0004C0268237 220110 Cytochrome-c oxidase deficiency
m.3243A>G4567MT-TL1Pathogenic199474657RCV000010211; RCV000143997; RCV000022901; RCV000022902; RCV000010206; RCV000192054; RCV000032997; RCV000010208; RCV000010209; RCV000010210; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0152164,OMIM:500007,SNOMED CT:18773000; MedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedGM32433243--NC_012920.1:m.3243A>GOMIM Allelic Variant:590050.0001C0152164 500007 Cyclical vomiting syndrome; C0268237 220110 Cytochrome-c oxidase deficiency; C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C0023264 256000 Leigh syndrome; C0162672 545000 Myoclonus with epilepsy with ragge
m.5728T>C4570MT-TNPathogenic199476132RCV000010247; RCV000010248; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedGen:C1838979,OMIM:252010M57285728--NC_012920.1:m.5728T>COMIM Allelic Variant:590010.0003C0268237 220110 Cytochrome-c oxidase deficiency; C1838979 252010 Mitochondrial complex I deficiency
NM_001171155.1(PET100):c.3G>C (p.Met1Ile)100131801PET100Pathogenic587777839RCV000111466; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:674340001976947227694722NM_001171155.1:c.3G>CNP_001164626.1:p.Met1Ile19:g.7694722G>COMIM Allelic Variant:614770.0001C0268237 220110 Cytochrome-c oxidase deficiency
NM_001171155.1(PET100):c.142C>T (p.Gln48Ter)100131801PET100Pathogenic587779779RCV000144455; NHuman Phenotype Ontology:HP:0004902,MedGen:CN004345; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:674340001976963627696362NM_001171155.1:c.142C>TNP_001164626.1:p.Gln48TerNC_000019.9:g.7696362C>T-CN004345 Congenital lactic acidosis; C0268237 220110 Cytochrome-c oxidase deficiency
NM_004589.3(SCO1):c.521C>T (p.Pro174Leu)6341SCO1Pathogenic104894630RCV000006555; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000171059612210596122NM_004589.3:c.521C>TNP_004580.1:p.Pro174LeuNC_000017.10:g.10596122G>AOMIM Allelic Variant:603644.0002C0268237 220110 Cytochrome-c oxidase deficiency
NM_004589.3(SCO1):c.394G>A (p.Gly132Ser)6341SCO1Pathogenic587777220RCV000106300; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000171059624910596249NM_004589.3:c.394G>ANP_004580.1:p.Gly132SerNC_000017.10:g.10596249C>TOMIM Allelic Variant:603644.0003C0268237 220110 Cytochrome-c oxidase deficiency
NM_004589.3(SCO1):c.363_364delGA (p.Lys122Valfs)6341SCO1Pathogenic587776629RCV000006554; NMedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000171059905810599059NM_004589.3:c.363_364delGANP_004580.1:p.Lys122ValfsOMIM Allelic Variant:603644.0001C0268237 220110 Cytochrome-c oxidase deficiency
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000256053 MSeqDR Search EnsemblAPOPT1104apoptogenic 1, mitochondrial [Source:HGNC Symbol;Acc:20492]00012
ENSG00000183513 MSeqDR Search EnsemblCOA5100cytochrome c oxidase assembly factor 5 [Source:HGNC Symbol;Acc:33848]00012
ENSG00000162377 MSeqDR Search EnsemblCOA7100cytochrome c oxidase assembly factor 7 [Source:HGNC Symbol;Acc:25716]00012
ENSG00000006695 MSeqDR Search EnsemblCOX10133cytochrome c oxidase assembly homolog 10 (yeast) [Source:HGNC Symbol;Acc:2260]00012
ENSG00000178449 MSeqDR Search EnsemblCOX14111cytochrome c oxidase assembly homolog 14 (S. cerevisiae) [Source:HGNC Symbol;Acc:28216]00012
ENSG00000203667 MSeqDR Search EnsemblCOX20110COX20 cytochrome C oxidase assembly factor [Source:HGNC Symbol;Acc:26970]00012
ENSG00000126267 MSeqDR Search EnsemblCOX6B1112cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) [Source:HGNC Symbol;Acc:2280]00012
ENSG00000176340 MSeqDR Search EnsemblCOX8A101cytochrome c oxidase subunit VIIIA (ubiquitous) [Source:HGNC Symbol;Acc:2294]00012
ENSG00000118246 MSeqDR Search EnsemblFASTKD2111FAST kinase domains 2 [Source:HGNC Symbol;Acc:29160]00012
ENSG00000198804 MSeqDR Search EnsemblMT-CO1122mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:7419]00012
ENSG00000198712 MSeqDR Search EnsemblMT-CO2144mitochondrially encoded cytochrome c oxidase II [Source:HGNC Symbol;Acc:7421]00012
ENSG00000198938 MSeqDR Search EnsemblMT-CO3134mitochondrially encoded cytochrome c oxidase III [Source:HGNC Symbol;Acc:7422]00012
ENSG00000209082 MSeqDR Search EnsemblMT-TL1121mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490]00012
ENSG00000210135 MSeqDR Search EnsemblMT-TN111mitochondrially encoded tRNA asparagine [Source:HGNC Symbol;Acc:7493]00012
ENSG00000229833 MSeqDR Search EnsemblPET100102PET100 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:40038]00012
ENSG00000133028 MSeqDR Search EnsemblSCO1123SCO1 cytochrome c oxidase assembly protein [Source:HGNC Symbol;Acc:10603]00012
ENSG00000260692 MSeqDR Search EnsemblSURF1100surfeit 1 [Source:HGNC Symbol;Acc:11474]00012
ENSG00000136463 MSeqDR Search EnsemblTACO1100translational activator of mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:24316]00012

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