MC3DN2
MCID: MTC091
MIFTS: 43

Mitochondrial Complex Iii Deficiency, Nuclear Type 2 (MC3DN2)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 2 57 29 13 6 39 70
Mc3dn2 57 12 72
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 57 6
Mitochondrial Complex Iii Deficiency Nuclear Type 2 12 15
Mitochondrial Complex Iii Deficiency, Nuclear 2 72
Mc2dn3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
variable age at onset (range late infancy to adulthood)
rapidly progressive episodes
severe neurodegenerative course resulting in a comatose state or death


HPO:

31
mitochondrial complex iii deficiency, nuclear type 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

OMIM® : 57 Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000). (615157) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 2, also known as mc3dn2, is related to mitochondrial complex iii deficiency, nuclear type 1 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3, and has symptoms including ataxia, tremor and muscle weakness. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 2 is TTC19 (Tetratricopeptide Repeat Domain 19), and among its related pathways/superpathways are Spinocerebellar ataxia and Mitochondrial Gene Expression. Affiliated tissues include brain and skeletal muscle, and related phenotypes are hyperreflexia and hearing impairment

Disease Ontology : 12 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.

UniProtKB/Swiss-Prot : 72 Mitochondrial complex III deficiency, nuclear 2: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Diseases related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iii deficiency, nuclear type 1 10.2 TTC19 NCOR1
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.1 TWNK MSTO1
3 mitochondrial complex iii deficiency 10.1 TTC19 NCOR1 MSTO1
4 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.0 MSTO1 CYCS
5 spinocerebellar ataxia, autosomal recessive 24 10.0 SPG7 GRM1
6 lichtenstein-knorr syndrome 9.9 TWNK SLC9A1 MSTO1
7 polg-related disorders 9.9 TWNK POLG
8 myotonic cataract 9.9 TWNK POLG
9 ataxia neuropathy spectrum 9.9 TWNK POLG
10 mitochondrial dna maintenance defects 9.9 TWNK POLG
11 mitochondrial dna depletion syndrome 6 9.9 TWNK POLG
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.8 TWNK POLG
13 dysphagia 9.8 TWNK POLG
14 pearson marrow-pancreas syndrome 9.8 TWNK POLG
15 perrault syndrome 9.8 TWNK SPG7 FXN
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.8 TWNK POLG
17 neuropathy, ataxia, and retinitis pigmentosa 9.8 TWNK POLG
18 autosomal dominant progressive external ophthalmoplegia 9.8 TWNK POLG
19 mitochondrial metabolism disease 9.8 TWNK TTC19 POLG
20 mitochondrial dna depletion syndrome 3 9.8 TWNK POLG
21 diabetic polyneuropathy 9.7 TWNK POLG
22 ocular motility disease 9.7 TWNK SPG7 POLG
23 mitochondrial dna depletion syndrome 4b 9.7 TWNK POLG
24 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.7 TWNK SPG7 POLG
25 chronic progressive external ophthalmoplegia 9.7 TWNK SPG7 POLG
26 early myoclonic encephalopathy 9.7 TWNK SPG7 POLG
27 marinesco-sjogren syndrome 9.7 POLG MSTO1 FXN
28 mitochondrial dna depletion syndrome 7 9.6 TWNK POLG FXN
29 autosomal recessive cerebellar ataxia 9.6 TWNK SPG7 GRM1 FXN
30 hereditary ataxia 9.6 TWNK SPG7 GRM1 FXN
31 mitochondrial myopathy 9.5 TWNK SPG7 POLG MSTO1
32 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.5 TWNK POLG CYCS
33 dentatorubral-pallidoluysian atrophy 9.4 TWNK SPG7 POLG FXN
34 mitochondrial disorders 9.4 TWNK SPG7 POLG FXN
35 cranial nerve disease 9.4 TWNK SPG7 POLG CYCS
36 kearns-sayre syndrome 9.3 TWNK SPG7 SDHD POLG FXN
37 mitochondrial complex i deficiency, nuclear type 1 9.2 POLG FXN CYCS
38 cerebellar disease 9.2 TWNK SPG7 POLG GRM1 FXN
39 autosomal dominant cerebellar ataxia 9.2 TWNK SPG7 POLG GRM1 FXN
40 optic nerve disease 9.1 TWNK SPG7 POLG FXN CYCS
41 leber hereditary optic neuropathy, modifier of 9.1 TWNK SPG7 POLG FXN CYCS
42 3-methylglutaconic aciduria, type iii 9.1 TWNK SPG7 POLG FXN CYCS
43 leigh syndrome 9.0 TWNK TTC19 SDHD POLG FXN CYCS
44 peripheral nervous system disease 8.9 TWNK SPG7 SDHD POLG FXN CYCS
45 disease of mental health 8.5 SPG7 POLG NCOR1 GRM1 FXN CYCS

Graphical network of the top 20 diseases related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:



Diseases related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 occasional (7.5%) HP:0001347
2 hearing impairment 31 occasional (7.5%) HP:0000365
3 global developmental delay 31 occasional (7.5%) HP:0001263
4 babinski sign 31 occasional (7.5%) HP:0003487
5 nystagmus 31 HP:0000639
6 depressivity 31 HP:0000716
7 dysarthria 31 HP:0001260
8 tremor 31 HP:0001337
9 dysphonia 31 HP:0001618
10 muscle weakness 31 HP:0001324
11 hallucinations 31 HP:0000738
12 cognitive impairment 31 HP:0100543
13 skeletal muscle atrophy 31 HP:0003202
14 anxiety 31 HP:0000739
15 obsessive-compulsive behavior 31 HP:0000722
16 dysmetria 31 HP:0001310
17 dystonia 31 HP:0001332
18 dysdiadochokinesis 31 HP:0002075
19 psychosis 31 HP:0000709
20 cerebellar atrophy 31 HP:0001272
21 spastic paraparesis 31 HP:0002313
22 cerebral atrophy 31 HP:0002059
23 aggressive behavior 31 HP:0000718
24 olivopontocerebellar atrophy 31 HP:0002542
25 apraxia 31 HP:0002186
26 bradykinesia 31 HP:0002067
27 incoordination 31 HP:0002311
28 neurodegeneration 31 HP:0002180
29 axonal degeneration 31 HP:0040078

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
tremor
dysphonia
more
Muscle Soft Tissue:
muscle weakness
muscle atrophy
decreased mitochondrial complex iii activity seen on muscle biopsy

Neurologic Peripheral Nervous System:
axonal degeneration
hyperreflexia (1 patient)

Laboratory Abnormalities:
decreased mitochondrial complex iii activity in muscle

Head And Neck Eyes:
nystagmus

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
anxiety
psychosis
depression
aggression
more
Head And Neck Ears:
hearing loss (1 patient)

Clinical features from OMIM®:

615157 619167 (Updated 05-Apr-2021)

UMLS symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:


ataxia; tremor; muscle weakness; abnormality of extrapyramidal motor function; dysdiadochokinesis; bradykinesia; paraparesis, spastic

MGI Mouse Phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 CYCS FXN GRM1 MSTO1 NCOR1 SDHD
2 growth/size/body region MP:0005378 9.85 BCKDHB CYCS FXN GRM1 MSTO1 NCOR1
3 mortality/aging MP:0010768 9.65 BCKDHB CYCS FXN GRM1 MSTO1 NCOR1
4 nervous system MP:0003631 9.32 BCKDHB CYCS FXN GRM1 NCOR1 POLG

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 29 TTC19

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

40
Brain, Skeletal Muscle

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Articles related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

# Title Authors PMID Year
1
Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome. 6 57
24368687 2014
2
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 6 57
24397319 2014
3
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. 6 57
23532514 2013
4
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 6 57
21278747 2011
5
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 6
26008905 2015
6
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. 6
24367056 2014
7
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment. 61
31551910 2019

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC19 NM_017775.4(TTC19):c.517C>T (p.Gln173Ter) SNV Pathogenic 31074 rs387907094 GRCh37: 17:15907199-15907199
GRCh38: 17:16003885-16003885
2 TTC19 TTC19, TRP186TER Variation Pathogenic 102438 GRCh37:
GRCh38:
3 TTC19 TTC19, 4-BP DEL, 964GGCT Deletion Pathogenic 102439 GRCh37:
GRCh38:
4 TTC19 NM_017775.4(TTC19):c.829C>T (p.Gln277Ter) SNV Pathogenic 102440 rs794726692 GRCh37: 17:15928483-15928483
GRCh38: 17:16025169-16025169
5 TTC19 NM_017775.4(TTC19):c.817G>T (p.Glu273Ter) SNV Pathogenic 437076 rs1555530551 GRCh37: 17:15928471-15928471
GRCh38: 17:16025157-16025157
6 TTC19 NM_017775.4(TTC19):c.656T>G (p.Leu219Ter) SNV Pathogenic 31073 rs747166010 GRCh37: 17:15909862-15909862
GRCh38: 17:16006548-16006548
7 SDHD NM_003002.4(SDHD):c.275A>G (p.Asp92Gly) SNV Pathogenic 180590 rs786205436 GRCh37: 11:111959696-111959696
GRCh38: 11:112088972-112088972
8 TTC19 NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) SNV Pathogenic 437427 rs1187416161 GRCh37: 17:15907549-15907549
GRCh38: 17:16004235-16004235
9 TTC19 NM_017775.4(TTC19):c.601_604del (p.Gly201fs) Deletion Pathogenic 102437 rs794726691 GRCh37: 17:15909804-15909807
GRCh38: 17:16006490-16006493
10 SDHD NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) SNV Pathogenic 156153 rs202198133 GRCh37: 11:111959626-111959626
GRCh38: 11:112088902-112088902
11 TTC19 NM_017775.4(TTC19):c.583C>T (p.Gln195Ter) SNV Pathogenic 982298 GRCh37: 17:15909789-15909789
GRCh38: 17:16006475-16006475
12 SDHD NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) SNV Pathogenic 156154 rs201372601 GRCh37: 11:111965693-111965693
GRCh38: 11:112094969-112094969
13 TTC19 NM_017775.4(TTC19):c.581+1_581+5del Deletion Likely pathogenic 873487 GRCh37: 17:15907575-15907579
GRCh38: 17:16004261-16004265
14 TTC19 NM_017775.4(TTC19):c.581+4A>C SNV Uncertain significance 889256 GRCh37: 17:15907580-15907580
GRCh38: 17:16004266-16004266
15 TTC19 NM_017775.4(TTC19):c.677-6C>T SNV Uncertain significance 889257 GRCh37: 17:15928325-15928325
GRCh38: 17:16025011-16025011
16 TTC19 NM_017775.4(TTC19):c.713T>C (p.Met238Thr) SNV Uncertain significance 889258 GRCh37: 17:15928367-15928367
GRCh38: 17:16025053-16025053
17 TTC19 NM_017775.4(TTC19):c.*834C>T SNV Uncertain significance 889318 GRCh37: 17:15931670-15931670
GRCh38: 17:16028356-16028356
18 TTC19 NM_017775.4(TTC19):c.*999T>C SNV Uncertain significance 889319 GRCh37: 17:15931835-15931835
GRCh38: 17:16028521-16028521
19 TTC19 NM_017775.4(TTC19):c.*1003C>T SNV Uncertain significance 889320 GRCh37: 17:15931839-15931839
GRCh38: 17:16028525-16028525
20 TTC19 NM_017775.4(TTC19):c.*335C>T SNV Uncertain significance 321955 rs117087989 GRCh37: 17:15931171-15931171
GRCh38: 17:16027857-16027857
21 TTC19 NM_017775.4(TTC19):c.994+3A>T SNV Uncertain significance 321949 rs189614332 GRCh37: 17:15930019-15930019
GRCh38: 17:16026705-16026705
22 TTC19 NM_017775.4(TTC19):c.*1194T>A SNV Uncertain significance 321968 rs116722822 GRCh37: 17:15932030-15932030
GRCh38: 17:16028716-16028716
23 TTC19 NM_017775.4(TTC19):c.*676C>T SNV Uncertain significance 321960 rs886052631 GRCh37: 17:15931512-15931512
GRCh38: 17:16028198-16028198
24 TTC19 NM_017775.4(TTC19):c.*753A>G SNV Uncertain significance 321963 rs886052632 GRCh37: 17:15931589-15931589
GRCh38: 17:16028275-16028275
25 TTC19 NM_017775.4(TTC19):c.*1321A>C SNV Uncertain significance 321979 rs886052640 GRCh37: 17:15932157-15932157
GRCh38: 17:16028843-16028843
26 TTC19 NM_017775.4(TTC19):c.*1562A>G SNV Uncertain significance 321982 rs749875042 GRCh37: 17:15932398-15932398
GRCh38: 17:16029084-16029084
27 TTC19 NM_017775.4(TTC19):c.25C>T (p.Leu9=) SNV Uncertain significance 321940 rs568088809 GRCh37: 17:15903187-15903187
GRCh38: 17:15999873-15999873
28 TTC19 NM_017775.4(TTC19):c.*578C>T SNV Uncertain significance 321957 rs188915420 GRCh37: 17:15931414-15931414
GRCh38: 17:16028100-16028100
29 TTC19 NM_017775.4(TTC19):c.270C>G (p.Asp90Glu) SNV Uncertain significance 321943 rs757875189 GRCh37: 17:15903517-15903517
GRCh38: 17:16000203-16000203
30 TTC19 NM_017775.4(TTC19):c.*1008G>A SNV Uncertain significance 321966 rs886052633 GRCh37: 17:15931844-15931844
GRCh38: 17:16028530-16028530
31 TTC19 NM_017775.4(TTC19):c.439T>C (p.Phe147Leu) SNV Uncertain significance 321946 rs765464563 GRCh37: 17:15906122-15906122
GRCh38: 17:16002808-16002808
32 TTC19 NM_017775.4(TTC19):c.*1318A>C SNV Uncertain significance 321977 rs886052638 GRCh37: 17:15932154-15932154
GRCh38: 17:16028840-16028840
33 NCOR1 , TTC19 NM_017775.4(TTC19):c.*1738T>C SNV Uncertain significance 321983 rs111241994 GRCh37: 17:15932574-15932574
GRCh38: 17:16029260-16029260
34 TTC19 NM_017775.4(TTC19):c.781G>A (p.Glu261Lys) SNV Uncertain significance 321948 rs755952117 GRCh37: 17:15928435-15928435
GRCh38: 17:16025121-16025121
35 TTC19 NM_017775.4(TTC19):c.*1099C>T SNV Uncertain significance 321967 rs886052634 GRCh37: 17:15931935-15931935
GRCh38: 17:16028621-16028621
36 TTC19 NM_017775.4(TTC19):c.*297G>A SNV Uncertain significance 321953 rs886052628 GRCh37: 17:15931133-15931133
GRCh38: 17:16027819-16027819
37 TTC19 NM_017775.4(TTC19):c.*1320A>C SNV Uncertain significance 321978 rs886052639 GRCh37: 17:15932156-15932156
GRCh38: 17:16028842-16028842
38 TTC19 NM_017775.4(TTC19):c.155G>A (p.Arg52Gln) SNV Uncertain significance 321942 rs886052626 GRCh37: 17:15903317-15903317
GRCh38: 17:16000003-16000003
39 TTC19 NM_017775.4(TTC19):c.612C>G (p.Phe204Leu) SNV Uncertain significance 215307 rs544027755 GRCh37: 17:15909818-15909818
GRCh38: 17:16006504-16006504
40 TTC19 NM_017775.4(TTC19):c.*746C>G SNV Uncertain significance 321962 rs143866104 GRCh37: 17:15931582-15931582
GRCh38: 17:16028268-16028268
41 TTC19 NM_017775.4(TTC19):c.424-3C>G SNV Uncertain significance 982299 GRCh37: 17:15906104-15906104
GRCh38: 17:16002790-16002790
42 TTC19 NM_017775.4(TTC19):c.304C>G (p.Arg102Gly) SNV Uncertain significance 891678 GRCh37: 17:15903551-15903551
GRCh38: 17:16000237-16000237
43 TTC19 NM_017775.4(TTC19):c.371G>A (p.Arg124His) SNV Uncertain significance 891679 GRCh37: 17:15905287-15905287
GRCh38: 17:16001973-16001973
44 TTC19 NM_017775.4(TTC19):c.*536C>T SNV Uncertain significance 891749 GRCh37: 17:15931372-15931372
GRCh38: 17:16028058-16028058
45 TTC19 NM_017775.4(TTC19):c.313-4T>C SNV Uncertain significance 509771 rs374666326 GRCh37: 17:15905225-15905225
GRCh38: 17:16001911-16001911
46 TTC19 NM_017775.4(TTC19):c.787G>T (p.Ala263Ser) SNV Uncertain significance 215302 rs141892030 GRCh37: 17:15928441-15928441
GRCh38: 17:16025127-16025127
47 TTC19 NM_017775.4(TTC19):c.820A>G (p.Arg274Gly) SNV Uncertain significance 215304 rs147111211 GRCh37: 17:15928474-15928474
GRCh38: 17:16025160-16025160
48 TTC19 NM_017775.4(TTC19):c.1004C>T (p.Thr335Ile) SNV Uncertain significance 215297 rs78193493 GRCh37: 17:15930697-15930697
GRCh38: 17:16027383-16027383
49 TTC19 NM_017775.4(TTC19):c.-1C>T SNV Uncertain significance 137773 rs2302414 GRCh37: 17:15903162-15903162
GRCh38: 17:15999848-15999848
50 TTC19 NM_017775.4(TTC19):c.122A>G (p.Gln41Arg) SNV Uncertain significance 516796 rs1462593526 GRCh37: 17:15903284-15903284
GRCh38: 17:15999970-15999970

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 2.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Pathways related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 TWNK GRM1 CYCS
2
Show member pathways
10.94 TWNK NCOR1 CYCS

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Cellular components related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.32 TWNK TTC19 SPG7 SLC9A1 SDHD POLG
2 mitochondrial inner membrane GO:0005743 9.26 TTC19 SPG7 SDHD CYCS
3 mitochondrial nucleoid GO:0042645 9.16 TWNK POLG

Biological processes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.55 TTC19 SDHD FXN CYCS BCKDHB
2 regulation of sensory perception of pain GO:0051930 9.32 SLC9A1 GRM1
3 cellular response to electrical stimulus GO:0071257 9.26 SLC9A1 GRM1
4 mitochondrion organization GO:0007005 9.02 TWNK SPG7 MSTO1 FXN CYCS
5 mitochondrial DNA replication GO:0006264 8.96 TWNK POLG

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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