COXPD1
MCID: CMB012
MIFTS: 44

Combined Oxidative Phosphorylation Deficiency 1 (COXPD1)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 1

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 1:

Name: Combined Oxidative Phosphorylation Deficiency 1 57 12 43 72 29 13 6 44 15 70
Coxpd1 57 12 43 72
Hepatoencephalopathy Due to Combined Oxidative Phosphorylation Defect Type 1 12 43 58
Early Fatal Progressive Hepatoencephalopathy 12 43
Hepatoencephalopathy Due to Coxpd1 12 58
Combined Oxidative Phosphorylation Deficiency, Type 1 39
Hepatoencephalopathy, Early Fatal Progressive 57
Hepatoencephalopathy Early Fatal Progressive 72

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death within first months or years of life
four patients have been reported (as of july 2011)


HPO:

31
combined oxidative phosphorylation deficiency 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111474
OMIM® 57 609060
OMIM Phenotypic Series 57 PS609060
NCIt 50 C125663
ICD10 via Orphanet 33 E88.8
UMLS via Orphanet 71 C1836797
Orphanet 58 ORPHA137681
MedGen 41 C1836797
UMLS 70 C1836797

Summaries for Combined Oxidative Phosphorylation Deficiency 1

MedlinePlus Genetics : 43 Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.Most people with combined oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens over time; they also have difficulty growing and gaining weight at the expected rate (failure to thrive). In some cases, affected individuals have abnormal muscle tone (increased or decreased), developmental delay, seizures, loss of sensation in the limbs (peripheral neuropathy), and an unusually small head (microcephaly). Liver disease is common in people with combined oxidative phosphorylation deficiency 1, with individuals quickly developing liver failure. Individuals with this condition also usually have a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis).The neurological features of combined oxidative phosphorylation deficiency 1 are largely due to brain abnormalities that include thinning of the tissue that connects the two halves of the brain (corpus callosum hypoplasia) and loss of brain tissue called white matter (leukodystrophy), particularly in an area of the brain called the basal ganglia, which normally helps control movement.Individuals with combined oxidative phosphorylation deficiency 1 usually do not survive past early childhood, although some people live longer.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 1, also known as coxpd1, is related to combined oxidative phosphorylation deficiency and combined oxidative phosphorylation deficiency 6, and has symptoms including muscle spasticity and stiffness. An important gene associated with Combined Oxidative Phosphorylation Deficiency 1 is GFM1 (G Elongation Factor Mitochondrial 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Mitochondrial translation. Affiliated tissues include brain, liver and eye, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32.

OMIM® : 57 Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by Smits et al., 2011). (609060) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 1: A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 1

Diseases related to Combined Oxidative Phosphorylation Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 29.0 VARS2 TUFM TSFM NARS2 MRPS22 GFM1
2 combined oxidative phosphorylation deficiency 6 10.8
3 combined oxidative phosphorylation deficiency 8 10.8
4 combined oxidative phosphorylation deficiency 10 10.8
5 combined oxidative phosphorylation deficiency 11 10.8
6 combined oxidative phosphorylation deficiency 12 10.8
7 combined oxidative phosphorylation deficiency 14 10.8
8 combined oxidative phosphorylation deficiency 18 10.8
9 combined oxidative phosphorylation deficiency 23 10.8
10 combined oxidative phosphorylation deficiency 24 10.8
11 combined oxidative phosphorylation deficiency 28 10.8
12 combined oxidative phosphorylation deficiency 31 10.8
13 combined oxidative phosphorylation deficiency 32 10.8
14 combined oxidative phosphorylation deficiency 33 10.8
15 combined oxidative phosphorylation deficiency 34 10.8
16 combined oxidative phosphorylation deficiency 35 10.8
17 combined oxidative phosphorylation deficiency 37 10.8
18 combined oxidative phosphorylation deficiency 39 10.8
19 combined oxidative phosphorylation deficiency 40 10.8
20 combined oxidative phosphorylation deficiency 42 10.8
21 combined oxidative phosphorylation deficiency 44 10.8
22 combined oxidative phosphorylation deficiency 45 10.8
23 metabolic acidosis 10.1
24 microcephaly 10.1
25 mitochondrial disorder due to a defect in mitochondrial protein synthesis 10.1
26 myoclonic epilepsy associated with ragged-red fibers 9.8 TSFM MRPL44
27 combined oxidative phosphorylation deficiency 3 9.8 TUFM TSFM GFM1
28 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 TSFM MRPS22 MRPL44
29 combined oxidative phosphorylation deficiency 4 9.7 TUFM TSFM GFM1
30 perrault syndrome 9.7 VARS2 NARS2 MRPS22 MRPL44
31 diamond-blackfan anemia 9.2 RPL9 RPL31 RPL18
32 leigh syndrome 9.0 VARS2 TUFM TSFM NARS2 MRPS22 GFM2

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 1:



Diseases related to Combined Oxidative Phosphorylation Deficiency 1

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 1

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 1:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 nystagmus 31 HP:0000639
4 hepatomegaly 31 HP:0002240
5 microcephaly 31 HP:0000252
6 intrauterine growth retardation 31 HP:0001511
7 motor delay 31 HP:0001270
8 increased serum lactate 31 HP:0002151
9 cholestasis 31 HP:0001396
10 hypoplasia of the corpus callosum 31 HP:0002079
11 poor eye contact 31 HP:0000817
12 increased csf lactate 31 HP:0002490
13 feeding difficulties 31 HP:0011968
14 metabolic acidosis 31 HP:0001942
15 muscular hypotonia of the trunk 31 HP:0008936
16 hypokinesia 31 HP:0002375
17 delayed myelination 31 HP:0012448
18 global brain atrophy 31 HP:0002283
19 basal ganglia cysts 31 HP:0006799
20 seizure 31 HP:0001250
21 fulminant hepatic failure 31 HP:0004448

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
hypoplasia of the corpus callosum
delayed myelination
delayed motor development
more
Abdomen Liver:
hepatomegaly
cholestasis
fulminant hepatic failure (in 2 sibs)
liver necrosis

Laboratory Abnormalities:
increased serum lactate
increased cerebrospinal fluid lactate
increased serum direct bilirubin
fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

Head And Neck Head:
microcephaly, mild

Head And Neck Eyes:
nystagmus
poor eye contact

Growth Other:
intrauterine growth retardation

Abdomen Gastrointestinal:
feeding problems

Metabolic Features:
metabolic acidosis, severe

Clinical features from OMIM®:

609060 (Updated 20-May-2021)

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 1:


muscle spasticity; stiffness

GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nuclear 60S biogenesis defects GR00209-A-3 8.8 RPL18 RPL31 RPL9

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 1

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 1

Cochrane evidence based reviews: combined oxidative phosphorylation deficiency 1

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 1

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 1:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 1 29 GFM1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 1

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 1:

40
Brain, Liver, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 1

Articles related to Combined Oxidative Phosphorylation Deficiency 1:

# Title Authors PMID Year
1
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. 6 57
21119709 2011
2
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 6 57
17160893 2007
3
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. 57 6
15537906 2004
4
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
5
[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. 61
33210482 2020

Variations for Combined Oxidative Phosphorylation Deficiency 1

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 1:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GFM1 NM_024996.5(GFM1):c.521A>G (p.Asn174Ser) SNV Pathogenic 4160 rs119470018 GRCh37: 3:158364685-158364685
GRCh38: 3:158646896-158646896
2 GFM1 NM_024996.5(GFM1):c.139C>T (p.Arg47Ter) SNV Pathogenic 4161 rs119470019 GRCh37: 3:158363475-158363475
GRCh38: 3:158645686-158645686
3 GFM1 NM_024996.5(GFM1):c.1487T>G (p.Met496Arg) SNV Pathogenic 4162 rs119470020 GRCh37: 3:158383232-158383232
GRCh38: 3:158665443-158665443
4 GFM1 NM_024996.5(GFM1):c.748C>T (p.Arg250Trp) SNV Pathogenic 30598 rs139430866 GRCh37: 3:158369943-158369943
GRCh38: 3:158652154-158652154
5 NARS2 NM_024678.6(NARS2):c.10del (p.Val4fs) Deletion Pathogenic 522915 rs1555047651 GRCh37: 11:78285524-78285524
GRCh38: 11:78574479-78574479
6 GFM1 NM_024996.5(GFM1):c.2011C>T (p.Arg671Cys) SNV Pathogenic 214500 rs201408725 GRCh37: 3:158408053-158408053
GRCh38: 3:158690264-158690264
7 GFM1 NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) Deletion Pathogenic 812086 rs866604517 GRCh37: 3:158378735-158378738
GRCh38: 3:158660946-158660949
8 GFM1 NM_024996.7(GFM1):c.1404del (p.Gly469fs) Deletion Pathogenic 812087 rs779877297 GRCh37: 3:158383146-158383146
GRCh38: 3:158665357-158665357
9 GFM1 NM_024996.7(GFM1):c.958C>G (p.Pro320Ala) SNV Pathogenic 812088 GRCh37: 3:158371216-158371216
GRCh38: 3:158653427-158653427
10 GFM1 NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) SNV Pathogenic 812089 GRCh37: 3:158407964-158407964
GRCh38: 3:158690175-158690175
11 GFM1 NM_024996.7(GFM1):c.248A>T (p.Asp83Val) SNV Pathogenic 812090 rs1576721522 GRCh37: 3:158363967-158363967
GRCh38: 3:158646178-158646178
12 GFM1 NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del) Deletion Pathogenic 812091 rs1576745248 GRCh37: 3:158376772-158376783
GRCh38: 3:158658983-158658994
13 GFM1 NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) SNV Pathogenic 812092 rs1576757241 GRCh37: 3:158384120-158384120
GRCh38: 3:158666331-158666331
14 GFM1 NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) SNV Pathogenic 812093 rs766234016 GRCh37: 3:158363436-158363436
GRCh38: 3:158645647-158645647
15 GFM1 NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) SNV Pathogenic 812094 rs143031224 GRCh37: 3:158384145-158384145
GRCh38: 3:158666356-158666356
16 MRPL44 NM_022915.4(MRPL44):c.800T>A (p.Leu267Ter) SNV Pathogenic 638416 rs1574796091 GRCh37: 2:224828624-224828624
GRCh38: 2:223963907-223963907
17 GFM1 NM_024996.5(GFM1):c.700C>T (p.Arg234Ter) SNV Pathogenic 214495 rs863224032 GRCh37: 3:158369895-158369895
GRCh38: 3:158652106-158652106
18 GFM1 NM_024996.5(GFM1):c.3G>A (p.Met1Ile) SNV Pathogenic 214491 rs863224030 GRCh37: 3:158362426-158362426
GRCh38: 3:158644637-158644637
19 GFM1 NM_024996.7(GFM1):c.720del (p.Glu241fs) Deletion Pathogenic 653852 rs745718158 GRCh37: 3:158369915-158369915
GRCh38: 3:158652126-158652126
20 GFM1 NM_024996.7(GFM1):c.1424del (p.Arg475fs) Deletion Pathogenic 997529 GRCh37: 3:158383169-158383169
GRCh38: 3:158665380-158665380
21 GFM1 NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter) SNV Pathogenic 1028357 GRCh37: 3:158380417-158380417
GRCh38: 3:158662628-158662628
22 GFM1 NM_024996.5(GFM1):c.2232del (p.Gly747fs) Deletion Pathogenic 214498 rs863224034 GRCh37: 3:158409231-158409231
GRCh38: 3:158691442-158691442
23 GFM1 NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) SNV Likely pathogenic 802018 rs762576741 GRCh37: 3:158402370-158402370
GRCh38: 3:158684581-158684581
24 GFM1 NM_024996.7(GFM1):c.54del (p.Ala19fs) Deletion Likely pathogenic 667375 rs765266988 GRCh37: 3:158362473-158362473
GRCh38: 3:158644684-158644684
25 GFM1 NM_024996.7(GFM1):c.952C>T (p.Pro318Ser) SNV Likely pathogenic 869394 GRCh37: 3:158371210-158371210
GRCh38: 3:158653421-158653421
26 GFM1 NM_001308164.1(GFM1):c.395A>C (p.Glu132Ala) SNV Likely pathogenic 522768 rs1553847587 GRCh37: 3:158364559-158364559
GRCh38: 3:158646770-158646770
27 GFM1 NM_024996.5(GFM1):c.829dup (p.Ser277fs) Duplication Conflicting interpretations of pathogenicity 374695 rs771865940 GRCh37: 3:158370021-158370022
GRCh38: 3:158652232-158652233
28 GFM1 NM_024996.5(GFM1):c.622G>A (p.Glu208Lys) SNV Conflicting interpretations of pathogenicity 214492 rs191462023 GRCh37: 3:158366879-158366879
GRCh38: 3:158649090-158649090
29 GFM1 NM_024996.5(GFM1):c.690-5C>G SNV Conflicting interpretations of pathogenicity 214483 rs201685981 GRCh37: 3:158369880-158369880
GRCh38: 3:158652091-158652091
30 GFM1 NM_024996.5(GFM1):c.2190C>T (p.Asp730=) SNV Uncertain significance 343937 rs149049400 GRCh37: 3:158409190-158409190
GRCh38: 3:158691401-158691401
31 GFM1 NM_024996.5(GFM1):c.1032C>T (p.Asn344=) SNV Uncertain significance 343929 rs373952002 GRCh37: 3:158372369-158372369
GRCh38: 3:158654580-158654580
32 GFM1 NM_024996.7(GFM1):c.1305C>G (p.Ala435=) SNV Uncertain significance 763069 rs141368418 GRCh37: 3:158378746-158378746
GRCh38: 3:158660957-158660957
33 GFM1 NM_024996.7(GFM1):c.408A>T (p.Arg136Ser) SNV Uncertain significance 1028358 GRCh37: 3:158364572-158364572
GRCh38: 3:158646783-158646783
34 GFM1 NM_024996.7(GFM1):c.1221+20G>A SNV Uncertain significance 1028356 GRCh37: 3:158376868-158376868
GRCh38: 3:158659079-158659079
35 GFM1 NM_024996.7(GFM1):c.221C>G (p.Ala74Gly) SNV Uncertain significance 991775 GRCh37: 3:158363557-158363557
GRCh38: 3:158645768-158645768
36 GFM1 NM_024996.7(GFM1):c.443T>C (p.Val148Ala) SNV Uncertain significance 991776 GRCh37: 3:158364607-158364607
GRCh38: 3:158646818-158646818
37 GFM1 NM_024996.7(GFM1):c.616G>T (p.Gly206Cys) SNV Uncertain significance 991777 GRCh37: 3:158366873-158366873
GRCh38: 3:158649084-158649084
38 GFM1 NM_024996.7(GFM1):c.825G>A (p.Ser275=) SNV Uncertain significance 991778 GRCh37: 3:158370020-158370020
GRCh38: 3:158652231-158652231
39 GFM1 NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) SNV Uncertain significance 991779 GRCh37: 3:158376825-158376825
GRCh38: 3:158659036-158659036
40 GFM1 NM_024996.7(GFM1):c.*164C>A SNV Uncertain significance 902834 GRCh37: 3:158409420-158409420
GRCh38: 3:158691631-158691631
41 GFM1 NM_024996.7(GFM1):c.607A>G (p.Ile203Val) SNV Uncertain significance 930333 GRCh37: 3:158366864-158366864
GRCh38: 3:158649075-158649075
42 GFM1 NM_024996.7(GFM1):c.881C>T (p.Pro294Leu) SNV Uncertain significance 931966 GRCh37: 3:158371139-158371139
GRCh38: 3:158653350-158653350
43 GFM1 NM_024996.7(GFM1):c.51C>T (p.Ala17=) SNV Uncertain significance 755085 rs937454854 GRCh37: 3:158362474-158362474
GRCh38: 3:158644685-158644685
44 GFM1 NM_024996.7(GFM1):c.220G>T (p.Ala74Ser) SNV Uncertain significance 746761 rs140377587 GRCh37: 3:158363556-158363556
GRCh38: 3:158645767-158645767
45 GFM1 NM_024996.7(GFM1):c.667A>G (p.Ile223Val) SNV Uncertain significance 742145 rs143446452 GRCh37: 3:158366924-158366924
GRCh38: 3:158649135-158649135
46 GFM1 NM_024996.7(GFM1):c.1083+8G>T SNV Uncertain significance 766333 rs753905803 GRCh37: 3:158372428-158372428
GRCh38: 3:158654639-158654639
47 GFM1 NM_024996.5(GFM1):c.1518+1G>A SNV Uncertain significance 632408 rs1560135491 GRCh37: 3:158383264-158383264
GRCh38: 3:158665475-158665475
48 GFM1 NM_024996.5(GFM1):c.1910-1G>A SNV Uncertain significance 632409 rs1462851267 GRCh37: 3:158407951-158407951
GRCh38: 3:158690162-158690162
49 NARS2 NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly) SNV Uncertain significance 522914 rs751383065 GRCh37: 11:78147844-78147844
GRCh38: 11:78436798-78436798
50 MRPS22 NM_020191.3(MRPS22):c.508C>T (p.Arg170Cys) SNV Uncertain significance 587534 rs948280864 GRCh37: 3:139069024-139069024
GRCh38: 3:139350182-139350182

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 1:

72
# Symbol AA change Variation ID SNP ID
1 GFM1 p.Asn174Ser VAR_021512 rs119470018
2 GFM1 p.Met496Arg VAR_031901 rs119470020
3 GFM1 p.Ser57Tyr VAR_076197 rs125497232
4 GFM1 p.Arg250Trp VAR_076198 rs139430866

Expression for Combined Oxidative Phosphorylation Deficiency 1

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 1.

Pathways for Combined Oxidative Phosphorylation Deficiency 1

Pathways related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 TUFM TSFM MRPS22 MRPL44 GFM2 GFM1
2
Show member pathways
11.66 TUFM TSFM MRPS22 MRPL44 GFM2 GFM1

GO Terms for Combined Oxidative Phosphorylation Deficiency 1

Cellular components related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.56 TSFM NARS2 GFM2 GFM1
2 mitochondrion GO:0005739 9.56 VARS2 TUFM TSFM NARS2 MRPS22 MRPL44
3 cytosolic large ribosomal subunit GO:0022625 9.33 RPL9 RPL31 RPL18
4 polysomal ribosome GO:0042788 9.32 RPL31 RPL18
5 ribosome GO:0005840 9.02 RPL9 RPL31 RPL18 MRPS22 MRPL44

Biological processes related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translational initiation GO:0006413 9.63 RPL9 RPL31 RPL18
2 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.61 RPL9 RPL31 RPL18
3 viral transcription GO:0019083 9.58 RPL9 RPL31 RPL18
4 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.54 RPL9 RPL31 RPL18
5 mitochondrial translational termination GO:0070126 9.5 MRPS22 MRPL44 GFM2
6 tRNA aminoacylation for protein translation GO:0006418 9.48 VARS2 NARS2
7 translational elongation GO:0006414 9.46 TUFM TSFM GFM2 GFM1
8 cytoplasmic translation GO:0002181 9.43 RPL9 RPL31 RPL18
9 mitochondrial translational elongation GO:0070125 9.43 TUFM TSFM MRPS22 MRPL44 GFM2 GFM1
10 translation GO:0006412 9.28 VARS2 TUFM TSFM RPL9 RPL31 RPL18

Molecular functions related to Combined Oxidative Phosphorylation Deficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.8 VARS2 TUFM NARS2 GFM2 GFM1
2 GTP binding GO:0005525 9.54 TUFM GFM2 GFM1
3 GTPase activity GO:0003924 9.5 TUFM GFM2 GFM1
4 RNA binding GO:0003723 9.5 TUFM TSFM RPL9 RPL31 RPL18 MRPL44
5 structural constituent of ribosome GO:0003735 9.46 RPL9 RPL31 RPL18 MRPS22
6 aminoacyl-tRNA ligase activity GO:0004812 9.26 VARS2 NARS2
7 translation elongation factor activity GO:0003746 8.92 TUFM TSFM GFM2 GFM1

Sources for Combined Oxidative Phosphorylation Deficiency 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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