MCID: MYL020
MIFTS: 61

Myelomeningocele malady

Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Myelomeningocele

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Myelomeningocele is the most severe form of spina bifida. it happens when parts of the spinal cord and nerves come through the open part of the spine. it causes nerve damage and other disabilities. seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). this happens because fluid that protects the brain and spinal cord is unable to drain like it should. the fluid builds up, causing pressure and swelling. without treatment, a person’s head grows too big, and they may have brain damage. other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. the cause of myelomeningocele is unknown. however, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. last updated: 1/11/2013

MalaCards: Myelomeningocele, also known as meningomyelocele, is related to spina bifida and neural tube defects. An important gene associated with Myelomeningocele is PAX3 (paired box 3), and among its related pathways are Folate-Alcohol and Cancer Pathway and Trans-sulfuration pathway. The compounds 5,10-methenyltetrahydrofolate and b vitamins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Wikipedia:65 Spina bifida (Latin: \"split spine\") is a developmental congenital disorder caused by the incomplete... more...

Aliases & Classifications for Myelomeningocele

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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Related Diseases for Myelomeningocele

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17GeneCards, 18GeneDecks
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Diseases related to Myelomeningocele via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida30.8CBS, MTR, MTRR, MTHFR, MTHFD1, PAX3
2neural tube defects30.3PAX3, MTR, MTHFR, MTHFD1, CBS, MTRR
3venous thrombosis29.9MTHFR, MTR, CBS
4obesity29.9TRH, CBS, SOD2, LEP, IGF1, IGFBP3
5hyperhomocysteinemia29.9MTHFR, CBS, SOD1, MTR, MTRR
6growth hormone deficiency29.9LEP, PRL, IGF1, IGFBP3, BGLAP
7parkinson's disease29.8MTR, SOD2, SOD1, TPPP3
8precocious puberty29.6IGF1, IGFBP3, PRL, GNRH1, LEP
9hydrocephalus10.6
10neurogenic bladder10.4
11chiari malformation10.4
12cervicitis10.4
13imperforate anus10.3
14neurogenic bowel10.2
15cerebritis10.2
16chiari malformation type 210.2
17renal agenesis meningomyelocele mullerian defect10.2
18sacrococcygeal teratoma10.2
19eclampsia10.1MTHFR
20endogenous depression10.1TRH
21melancholia10.1TRH
22syringomyelia10.1
23meningocele10.1
24constipation10.1
25encephalocele10.1
26split cord malformation10.1
27encephaloceles10.1
28spinal cord injury10.1
29syringohydromyelia10.1
30exophthalmos10.1TRH
31hyperthyroxinemia10.1TRH
32mccune albright syndrome10.1GNRH1
33gonorrhea10.1MTRR
34peripheral vascular disease10.1CBS, MTHFR
35megaloblastic anemia10.1MTR
36septo-optic dysplasia10.1SOD1
37homocysteinemia due to mthfr deficiency10.1MTHFR, MTR
38fetal macrosomia10.1LEP
39renal agenesis10.1
40spina bifida occulta10.1
41omphalocele10.1
42neural tube defects, folate-sensitive10.1MTR, MTRR
43methylmalonic acidemia10.1MTR, MTHFR
44vitamin b12 deficiency10.1MTHFR, MTR
45disorders of intracellular cobalamin metabolism10.1MTR, MTRR
46hypermethioninemia10.1CBS, SOD1
47nutritional deficiency disease10.1MTHFR, IGFBP3
48pulmonary embolism10.1MTHFR, CBS
49homocysteinemia10.1MTR, MTHFR, CBS
50folic acid deficiency anemia10.1MTR, MTHFR, CBS

Graphical network of the top 20 diseases related to Myelomeningocele:



Diseases related to myelomeningocele

Symptoms for Myelomeningocele

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Drugs & Therapeutics for Myelomeningocele

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Genetic Tests for Myelomeningocele

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Anatomical Context for Myelomeningocele

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33MalaCards
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MalaCards organs/tissues related to Myelomeningocele:

33
Spinal cord, Brain, Bone, Skin, Testes, Smooth muscle, Tonsil, Testis, Small intestine, Placenta, Heart, Uterus, Liver, Cortex

Animal Models for Myelomeningocele or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Myelomeningocele:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9PAX3, SOD1, SOD2, IGF1
2MP:00053918.8LEP, SOD2, SOD1, PAX3, CBS, MTHFR
3MP:00053718.7IGF1, LEP, PAX3, CBS, MTHFD1, MTHFR
4MP:00053678.5IGF1, LEP, GNRH1, SOD2, PAX3, CBS
5MP:00053908.3IGF1, LEP, GNRH1, SOD1, PAX3, MTHFR
6MP:00020068.3IGF1, LEP, GNRH1, SOD2, PAX3, PRL
7MP:00053698.1IGFBP3, IGF1, LEP, SOD2, SOD1, PAX3
8MP:00053858.1IGF1, LEP, SOD2, SOD1, PAX3, CBS
9MP:00053708.0IGFBP3, LEP, GNRH1, SOD2, SOD1, PAX3
10MP:00053977.9IGF1, LEP, GNRH1, SOD2, SOD1, PAX3
11MP:00107717.9IGF1, LEP, GNRH1, SOD2, PAX3, CBS
12MP:00053867.8IGFBP3, LEP, SOD2, SOD1, PAX3, CBS
13MP:00053897.7IGF1, LEP, GNRH1, SOD2, SOD1, CBS
14MP:00053847.7IGF1, LEP, SOD2, SOD1, PAX3, CBS
15MP:00107687.5IGF1, LEP, SOD2, SOD1, PAX3, CBS
16MP:00053877.4IGF1, LEP, GNRH1, SOD2, SOD1, PAX3
17MP:00053797.1IGFBP3, IGF1, LEP, GNRH1, SOD1, PAX3
18MP:00036316.9SOD2, GNRH1, LEP, IGF1, SOD1, PAX3
19MP:00053786.9IGFBP3, IGF1, LEP, GNRH1, SOD2, PAX3
20MP:00053765.7TRH, IGFBP3, IGF1, LEP, GNRH1, SOD2

Publications for Myelomeningocele

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52PubMed
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Articles related to Myelomeningocele:

(show top 50)    (show all 523)
idTitleAuthorsYear
1
Muscle ultrasound quantifies segmental neuromuscular outcome in pediatric myelomeningocele. (24210858)
2014
2
Improvement of motor function and decreased need for postnatal shunting in children who had undergone intrauterine myelomeningocele repair. (24141440)
2013
3
Genetic studies of myelomeningocele. (24013315)
2013
4
Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile. (23427181)
2013
5
Treatment of spinal deformity associated with myelomeningocele in young children with the use of the four-rib construct. (23787773)
2013
6
Intrauterine myelomeningocele repair postnatal results and follow-up at 3.5 years of age--initial experience from a single reference service in Brazil. (22205531)
2012
7
Strabismus in spina bifida myelomeningocele. (22998448)
2012
8
Psycholinguistic and scholastic abilities in children with myelomeningocele. (22231053)
2011
9
Prenatal versus postnatal repair of myelomeningocele. (21714661)
2011
10
Morphometric analysis of posterior fossa after in utero myelomeningocele repair. (21456906)
2011
11
Long-term urological impact of fetal myelomeningocele closure. (21862080)
2011
12
Treatment of Gibbus deformity associated with myelomeningocele in the young child with use of the vertical expandable prosthetic titanium rib (VEPTR): a case report. (20844164)
2010
13
Anesthetic management in intrauterine surgery to evaluate an experimental model of myelomeningocele in non human primates (Macaca mulatta). (20498944)
2010
14
Transanal irrigation in myelomeningocele children: an alternative, safe and valid approach for neurogenic constipation. (20084075)
2010
15
Contributory factors to postoperative spinal fusion complications for children with myelomeningocele. (20354477)
2010
16
Bone mineral density in children with myelomeningocele. (18811711)
2009
17
Bulbar urethral ligation for managing persistent urinary incontinence in young men with myelomeningocele. (19245443)
2009
18
Editorial comment. Effect of pelvic floor interferential electrostimulation on urodynamic parameters and incontinency of children with myelomeningocele and detrusor overactivity. (19646616)
2009
19
Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele. (19487512)
2009
20
Oral findings and dental care in a patient with myelomeningocele: case report of a 3-year-old child. (20126914)
2009
21
Tissue expansion technique for closure of myelomeningocele. (21887171)
2009
22
Independence in the toilet activity in children and adolescents with myelomeningocele--managing clean intermittent catheterization in a hospital setting. (19604172)
2009
23
Reversal of hindbrain herniation after maternal-fetal surgery for myelomeningocele subsequently impacts on brain stem function. (19569004)
2008
24
Morphologic analysis of the neuromuscular development of the anorectal unit in fetal rats with retinoic acid induced myelomeningocele. (18063303)
2008
25
Complications of clean intermittent catheterization in young females with myelomeningocele: 10 to 19 years of followup. (17632181)
2007
26
New anchoring method for tarsal tendon transfers in myelomeningocele patients. (19308534)
2007
27
Intrauterine surgery in myelomeningocele. (17716961)
2007
28
Double myelomeningocele in a neonate: Case report and review of the literature. (15936872)
2006
29
Evaluation of sexual function in young men with spina bifida and myelomeningocele using the International Index of Erectile Function. (16504267)
2006
30
Repeated intradetrusor botulinum toxin type A in children with neurogenic bladder due to myelomeningocele. (16469632)
2006
31
Maternal diabetes and neural tube defects: prenatal diagnosis of lumbosacral myelomeningocele, ventriculomegaly, Arnold-Chiari malformation and foot deformities in a pregnancy with poor maternal metabolic control, and review of the literature. (16259331)
2005
32
Adult tethered cord syndrome in patients with postrepair myelomeningocele: an evidence-based outcome study. (16156223)
2005
33
Impact of maternal-fetal surgery for myelomeningocele on the progression of ventriculomegaly in utero. (16150266)
2005
34
Prescribing the reciprocal gait orthosis for myelomeningocele children: a different approach and clinical outcome. (15204581)
2004
35
Kyphectomy in myelomeningocele with a modified Dunn-McCarthy technique followed by an anterior inlayed strut graft. (14714245)
2004
36
Prenatal intervention for urinary obstruction and myelomeningocele. (15707516)
2004
37
Embryology of myelomeningocele and anencephaly. (15209484)
2004
38
Grip force parameters in precision grip of individuals with myelomeningocele. (12647926)
2003
39
Myelomeningocele: prenatal evaluation--comparison between transabdominal US and MR imaging. (12714679)
2003
40
Maternal-fetal surgery for treatment of myelomeningocele. (12696793)
2003
41
The immunohistochemical profile of the myelomeningocele placode: is the placode normal? (14512686)
2003
42
Correction of hindbrain herniation and anatomy of the vermis after in utero repair of myelomeningocele in sheep. (12632366)
2003
43
In utero meconium exposure increases spinal cord necrosis in arat model of myelomeningocele. (12194146)
2002
44
Postoperative sudden death in two adolescents with myelomeningocele and unrecognized arrhythmogenic right ventricular dysplasia. (11465566)
2001
45
Treatment of neuropathic bladder using botulinum toxin A in a 1-year-old child with myelomeningocele. (11793122)
2001
46
Ambulation in Patients with Myelomeningocele: A 12-Year Follow-up. (17053651)
2001
47
Oval-shaped cornea, lens duplication, and optic nerve hypoplasia associated with myelomeningocele. (11124675)
2000
48
Peripheral chemoreceptor function in children with myelomeningocele and Arnold-Chiari malformation type 2. (7634879)
1995
49
Bladder-outlet reconstruction in neurogenic bladder due to myelomeningocele. (3337968)
1988
50
Klippel-Feil syndrome. Syringomyelia, diastematomyelia, and myelomeningocele--one disease? (13896922)
1961

Variations for Myelomeningocele

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Expression for genes affiliated with Myelomeningocele

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myelomeningocele

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Pathways for genes affiliated with Myelomeningocele

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB, 30KEGG, 60Thomson Reuters
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Pathways related to Myelomeningocele according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0MTHFR, CBS
2
Show member pathways
cysteine biosynthesis/homocysteine degradation38
9.9MTR, CBS
3
Show member pathways
Glycine Metabolism38
glycine biosynthesis I38
folate transformations38
9.9MTHFD1, MTR
4
Show member pathways
9.8SOD2, SOD1
59.8SOD1, SOD2
6
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.7CBS, MTHFR, MTR
7
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.6MTR, MTRR, CBS
8
Show member pathways
9.6CBS, MTRR, MTR
9
Show member pathways
Vitamin B12 Metabolism38
9.6MTRR, MTHFR, SOD1
10
Show member pathways
9.5TRH, LEP
119.4IGF1, IGFBP3
12
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.3MTHFD1, MTHFR, MTRR, MTR
139.2PAX3, IGF1, IGFBP3
14
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.1MTR, MTRR, MTHFR, MTHFD1, CBS
15
Show member pathways
thioredoxin pathway38
9.0SOD2, SOD1, CBS, MTHFR, MTR
168.8PRL, MTHFD1, MTHFR, MTRR, MTR

Compounds for genes affiliated with Myelomeningocele

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Myelomeningocele according to GeneCards/GeneDecks:

(show top 50)    (show all 196)
idCompoundScoreTop Affiliating Genes
15,10-methenyltetrahydrofolate459.8MTHFR, MTR, MTHFD1, CBS
2b vitamins459.8CBS, MTRR, MTR, MTHFR
3methylcobalamin45 2410.8MTRR, MTR, CBS, MTHFR
45-methyltetrahydrofolate45 1110.8MTRR, MTHFR, CBS, MTR
5betaine45 2410.7CBS, MTRR, MTR, MTHFR
6methylmalonic acid45 2410.7MTR, MTHFR, MTRR, CBS
7cystathionine459.5MTRR, MTHFR, MTHFD1, CBS, MTR
8cobalamin45 2410.5MTR, MTHFD1, MTHFR, MTRR, CBS
9thymidylate459.1CBS, MTR, MTRR, MTHFR, MTHFD1
10menadione45 24 1111.0SOD2, MTHFR, IGF1, SOD1, BGLAP
11homocysteine45 2410.0MTR, MTRR, CBS, MTHFD1, MTHFR
12betacarotene459.0LEP, IGFBP3, MTHFR, SOD1, SOD2
13buserelin45 29 1110.9IGFBP3, PRL, GNRH1, IGF1
14fenfluramine45 29 1110.8PRL, IGFBP3, LEP, TRH
15clomiphene citrate458.8GNRH1, IGF1, IGFBP3, PRL
16naltrexone45 29 51 1111.8IGFBP3, PRL, GNRH1, IGF1
17folate458.8SOD2, MTRR, MTR, MTHFR, IGFBP3, CBS
18ghrp458.8PRL, IGFBP3, IGF1, TRH
19vitamin b12458.8IGFBP3, IGF1, CBS, MTHFR, MTRR, MTR
20pyridostigmine45 119.8TRH, PRL, IGF1, IGFBP3
21cabergoline45 29 1110.7GNRH1, IGFBP3, PRL, IGF1
22estrone sulfate45 249.7PRL, IGFBP3, BGLAP, IGF1
23dehydroepiandrosterone sulfate458.5IGFBP3, PRL, GNRH1, IGF1, LEP
24ascorbic acid45 249.5SOD2, LEP, BGLAP, MTHFR, IGFBP3, SOD1
25aspartate458.5IGFBP3, BGLAP, GNRH1, MTHFR, MTR, MTRR
26octreotide45 61 29 1111.4IGF1, IGFBP3, GNRH1, PRL, TRH
27androstenedione45 249.4LEP, IGFBP3, IGF1, PRL, GNRH1
28methotrexate51 45 1110.4LEP, IGFBP3, SOD2, CBS, MTHFD1, MTHFR
29levodopa45 119.4TRH, PRL, IGF1, SOD1, MTHFR
30estrone45 29 24 1111.3LEP, GNRH1, BGLAP, IGFBP3, IGF1, PRL
31dihydrotestosterone45 29 24 1111.3PRL, GNRH1, LEP, BGLAP, IGFBP3, IGF1
32alpha tocopherol458.2MTHFR, SOD1, IGF1, SOD2, LEP, BGLAP
33bromocriptine45 29 1110.2SOD2, GNRH1, IGF1, IGFBP3, TRH, PRL
34triiodothyronine458.2PRL, TRH, LEP, IGF1, IGFBP3
35cisplatin45 51 61 1111.2MTHFR, GNRH1, MTR, LEP, SOD2, SOD1
36clonidine45 51 29 1111.1PRL, LEP, BGLAP, IGF1, IGFBP3, TRH
37cysteine458.0IGFBP3, BGLAP, LEP, SOD2, SOD1, MTHFR
38tamoxifen45 51 29 1111.0IGF1, IGFBP3, SOD2, BGLAP, PRL, GNRH1
39acth457.9IGF1, IGFBP3, PRL, TRH, LEP, GNRH1
40thyroxine45 248.8TRH, PRL, GNRH1, LEP, IGFBP3, IGF1
41gnrh457.8PRL, GNRH1, LEP, IGF1, TRH, IGFBP3
42estradiol45 24 119.7IGFBP3, TRH, PRL, IGF1, GNRH1, LEP
43glutamate457.7IGFBP3, CBS, GNRH1, SOD1, MTHFR, LEP
44norepinephrine45 24 119.6PRL, IGFBP3, LEP, SOD2, TRH, GNRH1
45creatinine457.6BGLAP, IGF1, GNRH1, IGFBP3, SOD2, SOD1
46dexamethasone45 51 29 1110.4IGF1, PRL, SOD2, GNRH1, TRH, LEP
47dopamine45 29 24 1110.4IGF1, TRH, MTHFR, PRL, SOD2, GNRH1
48testosterone45 61 24 1110.2IGFBP3, IGF1, LEP, GNRH1, SOD2, PRL
49estrogen457.2TRH, IGFBP3, IGF1, BGLAP, LEP, GNRH1
50arginine456.9SOD2, IGFBP3, IGF1, BGLAP, LEP, TRH

GO Terms for genes affiliated with Myelomeningocele

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16Gene Ontology
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Cellular components related to Myelomeningocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.1IGF1, IGFBP3
2extracellular spaceGO:0056158.1GNRH1, LEP, BGLAP, IGF1, IGFBP3, SOD1
3extracellular regionGO:0055766.9TRH, PRL, SOD1, GNRH1, LEP, BGLAP

Biological processes related to Myelomeningocele according to GeneCards/GeneDecks:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:05066710.3MTHFR, CBS
2tetrahydrofolate interconversionGO:03599910.3MTHFD1, MTHFR
3response to folic acidGO:05159310.3MTHFR, CBS
4response to superoxideGO:00030310.1SOD1, SOD2
5hydrogen peroxide biosynthetic processGO:05066510.1SOD2, SOD1
6methionine biosynthetic processGO:00908610.1MTRR, MTHFR, MTHFD1
7folic acid metabolic processGO:04665510.1MTRR, MTHFR, MTHFD1
8methylationGO:03225910.1MTRR, MTR
9removal of superoxide radicalsGO:01943010.1SOD2, SOD1
10superoxide anion generationGO:04255410.0SOD2, SOD1
11cobalamin metabolic processGO:00923510.0MTR, MTRR
12sulfur amino acid metabolic processGO:00009610.0CBS, MTRR, MTR
13regulation of mitochondrial membrane potentialGO:05188110.0SOD2, SOD1
14superoxide metabolic processGO:0068019.9SOD2, SOD1, CBS
15response to zinc ionGO:0100439.9SOD2, BGLAP
16response to activityGO:0148239.9SOD2, BGLAP
17response to axon injuryGO:0486789.8SOD2, SOD1
18positive regulation of cytokine productionGO:0018199.8LEP, SOD1
19bone mineralization involved in bone maturationGO:0356309.8LEP, IGF1
20positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.7IGFBP3, IGF1
21water-soluble vitamin metabolic processGO:0067679.7MTHFD1, MTHFR, MTRR, MTR
22vitamin metabolic processGO:0067669.7MTHFD1, MTHFR, MTRR, MTR
23regulation of blood pressureGO:0082179.7LEP, SOD2, SOD1
24eating behaviorGO:0427559.6TRH, LEP
25response to drugGO:0424939.6MTHFR, SOD1, SOD2, BGLAP
26cell agingGO:0075699.5SOD1, BGLAP
27cellular nitrogen compound metabolic processGO:0346419.5CBS, MTRR, MTR
28female pregnancyGO:0075659.5PRL, GNRH1, LEP
29response to ethanolGO:0454719.4TRH, SOD1, GNRH1, BGLAP
30regulation of multicellular organism growthGO:0400149.3IGF1, SOD1, PRL
31positive regulation of MAPK cascadeGO:0434109.3LEP, IGF1, IGFBP3
32response to hypoxiaGO:0016669.3LEP, SOD2, MTHFR, TRH
33negative regulation of cell proliferationGO:0082859.1IGFBP3, IGF1, GNRH1, SOD2

Molecular functions related to Myelomeningocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:07234110.0MTHFR, CBS
2superoxide dismutase activityGO:0047849.5SOD1, SOD2
3hormone activityGO:0051798.5PRL, GNRH1, LEP, IGF1

Products for genes affiliated with Myelomeningocele

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4CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
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