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
Term ID:6278
Name:Leigh Disease
Definition:A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Alternative IDs:OMIM:256000
ParentIDs:MESH:D015323|MESH:D020739|MESH:D028361
TreeNumbers:C10.228.140.163.100.412 |C16.320.565.189.412 |C16.320.565.202.810.444 |C18.452.132.100.412 |C18.452.648.189.412 |C18.452.648.202.810.444 |C18.452.660.520
Synonyms:Disease, Leigh's |Encephalomyelitides, Subacute Necrotizing |Encephalomyelitis, Subacute Necrotizing |Encephalomyelopathies, Subacute Necrotizing |Encephalomyelopathy, Subacute Necrotizing |Encephalopathies, Subacute Necrotizing |Encephalopathy, Subacute Necro
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D007888
MeSH: D007888
OMIM: 256000;
MSeqDR LSDB: 00015;
MSeqDR has 3 matches in descendants: 00389; 00390; 00433;  
Genes: BCS1L; COX10; COX15; FOXRED1; NDUFA10; NDUFA12; NDUFA2; NDUFA9; NDUFAF2; NDUFAF6; NDUFS3; NDUFS4; NDUFS7; NDUFS8; SDHA; SURF1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001427Mitochondrial inheritance
3 HP:0003593Infantile onset
4 HP:0002793Abnormal pattern of respiration
5 HP:0100022Abnormality of movementhallmark
6 HP:0001251Ataxia
7 HP:0007305CNS demyelination
8 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
hallmark
9 HP:0001260Dysarthria
NAMDC:  Dysarthria
10 HP:0001332Dystonia
NAMDC:  Dystonia
11 HP:0000712Emotional lability
12 HP:0001508Failure to thrive
13 HP:0002171Gliosis
14 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
15 HP:0001263Global developmental delay
NAMDC:  Mental retardation
16 HP:0001404Hepatocellular necrosis
17 HP:0001425Heterogeneous
18 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
19 HP:0000998Hypertrichosis
20 HP:0002311Incoordinationhallmark
21 HP:0002490Increased CSF lactate
22 HP:0002151Increased serum lactate
23 HP:0001249Intellectual disability
24 HP:0003128Lactic acidosis
25 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
hallmark
26 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
27 HP:0000639Nystagmushallmark
28 HP:0000639Nystagmus
29 HP:0000597Ophthalmoparesis
NAMDC:  Ophthalmoparesis
typical
30 HP:0000602Ophthalmoplegia
31 HP:0000648Optic atrophy
32 HP:0000648Optic atrophytypical
33 HP:0003812Phenotypic variability
34 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
35 HP:0003676Progressive
36 HP:0000508Ptosis
NAMDC:  Ptosis
37 HP:0002878Respiratory failure
38 HP:0002093Respiratory insufficiencyhallmark
39 HP:0001250Seizures
NAMDC:  Seizures
typical
40 HP:0001250Seizures
NAMDC:  Seizures
41 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
42 HP:0001257Spasticity
NAMDC:  Spasticity
43 HP:0000486Strabismus
44 HP:0000486Strabismushallmark
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004092.3(ECHS1):c.5C>T (p.Ala2Val)1892ECHS1Likely pathogenic;Pathogenic587776498RCV000144497; RCV000167582; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:CN228784,OMIM:61627710135186833135186833NM_004092.3:c.5C>TNP_004083.3:p.Ala2ValNC_000010.10:g.135186833G>AOMIM Allelic Variant:602292.0004C0023264 256000 Leigh syndrome; CN228784 616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
NM_004092.3(ECHS1):c.2T>G (p.Met1Arg)1892ECHS1Likely pathogenic;Pathogenic587776497RCV000144496; RCV000167581; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:CN228784,OMIM:61627710135186836135186836NM_004092.3:c.2T>GNP_004083.3:p.Met1ArgNC_000010.10:g.135186836A>COMIM Allelic Variant:602292.0003C0023264 256000 Leigh syndrome; CN228784 616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
NM_018060.3(IARS2):c.1821G>A (p.Trp607Ter)55699IARS2Pathogenic;Uncertain significance373436822RCV000144716; RCV000144955; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:CN2218091220300169220300169NM_018060.3:c.1821G>ANP_060530.3:p.Trp607TerNC_000001.10:g.220300169G>AOMIM Allelic Variant:612801.0002C0023264 256000 Leigh syndrome; CN221809 not provided
NM_018060.3(IARS2):c.2122G>A (p.Glu708Lys)55699IARS2Pathogenic;Uncertain significance143722284RCV000144717; RCV000144956; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:CN2218091220311332220311332NM_018060.3:c.2122G>ANP_060530.3:p.Glu708LysNC_000001.10:g.220311332G>AOMIM Allelic Variant:612801.0003C0023264 256000 Leigh syndrome; CN221809 not provided
NC_012920.1:m.8839G>C4508MT-ATP6Pathogenic369202065RCV000144024; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M88398839--NC_012920.1:m.8839G>C-C0023264 256000 Leigh syndrome
m.8851T>C4508MT-ATP6Pathogenic199476136RCV000144005; RCV000010280; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1839022,OMIM:500003M88518851--NC_012920.1:m.8851T>COMIM Allelic Variant:516060.0006C0023264 256000 Leigh syndrome; C1839022 500003 Striatonigral degeneration, infantile, mitochondrial
NC_012920.1:m.8989G>C4508MT-ATP6Pathogenic587776444RCV000144025; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M89898989--NC_012920.1:m.8989G>C-C0023264 256000 Leigh syndrome
m.8993T>G4508MT-ATP6Pathogenic199476133RCV000010273; RCV000010274; RCV000191106; YHuman Phenotype Ontology:HP:0001251,Human Phenotype Ontology:HP:0001253,Human Phenotype Ontology:HP:0002513,Human Phenotype Ontology:HP:0007050,Human Phenotype Ontology:HP:0007157,MedGen:CN001146; MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C18M89938993--NC_012920.1:m.8993T>GOMIM Allelic Variant:516060.0001CN001146 Ataxia; C0023264 256000 Leigh syndrome
m.8993T>C4508MT-ATP6Pathogenic199476133RCV000010275; RCV000010276; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838916M89938993--NC_012920.1:m.8993T>COMIM Allelic Variant:516060.0002C1838916 Ataxia and polyneuropathy, adult-onset; C0023264 256000 Leigh syndrome
m.9176T>C4508MT-ATP6Pathogenic199476135RCV000010279; RCV000010278; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1839022,OMIM:500003M91769176--NC_012920.1:m.9176T>COMIM Allelic Variant:516060.0005C0023264 256000 Leigh syndrome; C1839022 500003 Striatonigral degeneration, infantile, mitochondrial
m.9176T>G4508MT-ATP6Pathogenic199476135RCV000010285; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M91769176--NC_012920.1:m.9176T>GOMIM Allelic Variant:516060.0011C0023264 256000 Leigh syndrome
m.9185T>C4508MT-ATP6Pathogenic199476138RCV000010282; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M91859185--NC_012920.1:m.9185T>COMIM Allelic Variant:516060.0008C0023264 256000 Leigh syndrome
m.9191T>C4508MT-ATP6Pathogenic386829069RCV000144006; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M91919191--NC_012920.1:m.9191T>C-C0023264 256000 Leigh syndrome
NC_012920.1:m.9478T>C4514MT-CO3Pathogenic587776437RCV000144007; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M94789478--NC_012920.1:m.9478T>C-C0023264 256000 Leigh syndrome
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.3460G>A4535MT-ND1Pathogenic199476118RCV000010371; RCV000143998; RCV000010370; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003; MedGen:C1838979,OMIM:252010M34603460--NC_012920.1:m.3460G>AOMIM Allelic Variant:516000.0001C0917796 535000 Leber's optic atrophy; C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
NC_012920.1:m.3481G>A4535MT-ND1Pathogenic587776433RCV000143999; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M34813481--NC_012920.1:m.3481G>A-C0023264 256000 Leigh syndrome
NC_012920.1:m.3890G>A4535MT-ND1Pathogenic587776434RCV000144000; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M38903890--NC_012920.1:m.3890G>A-C0023264 256000 Leigh syndrome
NC_012920.1:m.3928G>C4535MT-ND1Pathogenic587776442RCV000144023; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M39283928--NC_012920.1:m.3928G>C-C0023264 256000 Leigh syndrome
m.4681T>C4536MT-ND2Pathogenic267606889RCV000010369; RCV000144022; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951M46814681--NC_012920.1:m.4681T>COMIM Allelic Variant:516001.0006C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NC_012920.1:m.10134C>A4537MT-ND3Pathogenic587780529RCV000144458; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M1013410134--NC_012920.1:m.10134C>A-C0023264 256000 Leigh syndrome
m.10158T>C4537MT-ND3Pathogenic199476117RCV000010360; RCV000010361; RCV000144009; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1838979,OMIM:252010M1015810158--NC_012920.1:m.10158T>COMIM Allelic Variant:516002.0003C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency; C1838979 252010 Mitochondrial complex I deficiency
m.10191T>C4537MT-ND3Pathogenic267606890RCV000010358; RCV000144010; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838979,OMIM:252010M1019110191--NC_012920.1:m.10191T>COMIM Allelic Variant:516002.0001C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
m.10197G>A4537MT-ND3Pathogenic267606891RCV000010362; RCV000144011; RCV000010363; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1839040,OMIM:500001M1019710197--NC_012920.1:m.10197G>AOMIM Allelic Variant:516002.0004C1839040 500001 Leber hereditary optic neuropathy with dystonia; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NC_012920.1:m.10254G>A4537MT-ND3Pathogenic587776438RCV000144012; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M1025410254--NC_012920.1:m.10254G>A-C0023264 256000 Leigh syndrome
m.11777C>A4538MT-ND4Pathogenic28384199RCV000010357; RCV000144013; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838979,OMIM:252010M1177711777--NC_012920.1:m.11777C>AOMIM Allelic Variant:516003.0004C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
NC_012920.1:m.11984T>C4538MT-ND4Pathogenic200911567RCV000144014; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M1198411984--NC_012920.1:m.11984T>C-C0023264 256000 Leigh syndrome
m.12706T>C4540MT-ND5Pathogenic267606893RCV000010338; RCV000144015; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951M1270612706--NC_012920.1:m.12706T>COMIM Allelic Variant:516005.0003C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
m.13513G>A4540MT-ND5Pathogenic267606897RCV000010346; RCV000144016; RCV000010345; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C1838951M1351313513--NC_012920.1:m.13513G>AOMIM Allelic Variant:516005.0007C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NC_012920.1:m.13514A>G4540MT-ND5Pathogenic587776440RCV000144017; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M1351413514--NC_012920.1:m.13514A>G-C0023264 256000 Leigh syndrome
m.14459G>A4541MT-ND6Pathogenic199476105RCV000010328; RCV000144019; RCV000010327; RCV000010326; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003; MedGen:C1838951; MedGen:C1839040,OMIM:500001M1445914459--NC_012920.1:m.14459G>AOMIM Allelic Variant:516006.0002C1839040 500001 Leber hereditary optic neuropathy with dystonia; C0917796 535000 Leber's optic atrophy; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NC_012920.1:m.14484T>C4541MT-ND6Pathogenic199476104RCV000144018; RCV000010325; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003M1448414484--NC_012920.1:m.14484T>COMIM Allelic Variant:516006.0001C0917796 535000 Leber's optic atrophy; C0023264 256000 Leigh syndrome
m.14487T>C4541MT-ND6Pathogenic199476109RCV000010333; RCV000144020; RCV000010334; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1838954M1448714487--NC_012920.1:m.14487T>COMIM Allelic Variant:516006.0007C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency; C1838954 Striatal necrosis, bilateral, with dystonia
m.8344A>G4566MT-TKPathogenic118192098RCV000010193; RCV000010192; RCV000010194; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:C1838867,OMIM:556500M83448344--NC_012920.1:m.8344A>GOMIM Allelic Variant:590060.0001C0023264 256000 Leigh syndrome; C0162672 545000 Myoclonus with epilepsy with ragged red fibers; C1838867 556500 Parkinson disease, mitochondrial
m.8363G>A4566MT-TKPathogenic118192100RCV000144004; RCV000192053; RCV000010197; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:CN069290M83638363--NC_012920.1:m.8363G>AOMIM Allelic Variant:590060.0003CN069290 Cardiomyopathy and Deafness; C0023264 256000 Leigh syndrome; C0162672 545000 Myoclonus with epilepsy with ragged red fibers
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.1624C>T4577MT-TVPathogenic199476144RCV000010158; RCV000010157; NHuman Phenotype Ontology:HP:0003811,Human Phenotype Ontology:HP:0003820,Human Phenotype Ontology:HP:0003824,MedGen:C0410916; MedGen:C0023264,OMIM:256000,SNOMED CT:29570005M16241624--NC_012920.1:m.1624C>TOMIM Allelic Variant:590105.0002C0023264 256000 Leigh syndrome; C0410916 Neonatal death
NC_012920.1:m.1644G>T4577MT-TVPathogenic587776441RCV000144021; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M16441644--NC_012920.1:m.1644G>T-C0023264 256000 Leigh syndrome
NC_012920.1:m.5523T>G4578MT-TWPathogenic587776435RCV000144001; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M55235523--NC_012920.1:m.5523T>G-C0023264 256000 Leigh syndrome
m.5537_5538insT4578MT-TWPathogenic199474672RCV000010165; RCV000010164; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1852373M55375538--NC_012920.1:m.5537_5538insTOMIM Allelic Variant:590095.0002C1852373 Encephalopathy, mitochondrial; C0023264 256000 Leigh syndrome
NC_012920.1:m.5559A>G4578MT-TWPathogenic370471013RCV000144003; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005M55595559--NC_012920.1:m.5559A>G-C0023264 256000 Leigh syndrome
NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu)123263MTFMTPathogenic201431517RCV000033048; RCV000190888; RCV000033047; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C3554182,OMIM:614947,ORPHA:319524156531387165313871NM_139242.3:c.626C>TNP_640335.2:p.Ser209LeuNC_000015.9:g.65313871G>AOMIM Allelic Variant:611766.0001C3554182 614947 Combined oxidative phosphorylation deficiency 15; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.343A>G (p.Lys115Glu)4728NDUFS8Likely pathogenic764276946RCV000200148; NMedGen:C0023264,OMIM:256000,SNOMED CT:29570005116780072167800721NM_002496.3:c.343A>GNP_002487.1:p.Lys115GluNC_000011.9:g.67800721A>G-C0023264 256000 Leigh syndrome
NM_003172.3(SURF1):c.106+1G>C6834SURF1Likely pathogenic863224926RCV000196131; NMedGen:C0023264,OMIM:256000,SNOMED CT:295700059136223123136223123NM_003172.3:c.106+1G>CNC_000009.11:g.136223123C>G-C0023264 256000 Leigh syndrome
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000074582 MSeqDR Search EnsemblBCS1L100BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]00015
ENSG00000006695 MSeqDR Search EnsemblCOX10100cytochrome c oxidase assembly homolog 10 (yeast) [Source:HGNC Symbol;Acc:2260]00015
ENSG00000014919 MSeqDR Search EnsemblCOX15100cytochrome c oxidase assembly homolog 15 (yeast) [Source:HGNC Symbol;Acc:2263]00015
ENSG00000110074 MSeqDR Search EnsemblFOXRED1100FAD-dependent oxidoreductase domain containing 1 [Source:HGNC Symbol;Acc:26927]00015
ENSG00000198899 MSeqDR Search EnsemblMT-ATP6179mitochondrially encoded ATP synthase 6 [Source:HGNC Symbol;Acc:7414]00015
ENSG00000210156 MSeqDR Search EnsemblMT-TK132mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]00015
ENSG00000210077 MSeqDR Search EnsemblMT-TV132mitochondrially encoded tRNA valine [Source:HGNC Symbol;Acc:7500]00015
ENSG00000210117 MSeqDR Search EnsemblMT-TW143mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501]00015
ENSG00000130414 MSeqDR Search EnsemblNDUFA10100NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa [Source:HGNC Symbol;Acc:7684]00015
ENSG00000184752 MSeqDR Search EnsemblNDUFA12100NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 [Source:HGNC Symbol;Acc:23987]00015
ENSG00000131495 MSeqDR Search EnsemblNDUFA2100NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa [Source:HGNC Symbol;Acc:7685]00015
ENSG00000139180 MSeqDR Search EnsemblNDUFA9100NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa [Source:HGNC Symbol;Acc:7693]00015
ENSG00000164182 MSeqDR Search EnsemblNDUFAF2100NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]00015
ENSG00000156170 MSeqDR Search EnsemblNDUFAF6100NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 [Source:HGNC Symbol;Acc:28625]00015
ENSG00000213619 MSeqDR Search EnsemblNDUFS3100NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]00015
ENSG00000164258 MSeqDR Search EnsemblNDUFS4100NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]00015
ENSG00000115286 MSeqDR Search EnsemblNDUFS7100NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7714]00015
ENSG00000110717 MSeqDR Search EnsemblNDUFS8101NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7715]00015
ENSG00000073578 MSeqDR Search EnsemblSDHA110succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [Source:HGNC Symbol;Acc:10680]00015
ENSG00000260692 MSeqDR Search EnsemblSURF1101surfeit 1 [Source:HGNC Symbol;Acc:11474]00015

*Click on gene and variants to check details. Or view all variants in new page