MCID: MYL020
MIFTS: 62

Myelomeningocele malady

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

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NIH Rare Diseases:42 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 based summary: Myelomeningocele, also known as meningomyelocele, is related to spina bifida and venous thrombosis. 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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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
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Related Diseases for Myelomeningocele

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

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida30.8CBS, MTR, MTRR, MTHFR, MTHFD1, PAX3
2venous thrombosis30.3MTHFR, MTR, CBS
3neural tube defects30.2PAX3, MTR, MTHFR, MTHFD1, CBS, MTRR
4hyperhomocysteinemia29.9MTHFR, CBS, SOD1, MTR, MTRR
5parkinson's disease29.9MTR, SOD2, SOD1, TPPP3
6obesity29.5TRH, CBS, SOD2, LEP, IGF1, IGFBP3
7growth hormone deficiency29.3LEP, PRL, IGF1, IGFBP3, BGLAP
8precocious puberty29.1IGF1, IGFBP3, PRL, GNRH1, LEP
9eclampsia10.6MTHFR
10hydrocephalus10.6
11endogenous depression10.6TRH
12melancholia10.5TRH
13exophthalmos10.5TRH
14hyperthyroxinemia10.5TRH
15mccune albright syndrome10.5GNRH1
16gonorrhea10.5MTRR
17neurogenic bladder10.5
18chiari malformation10.4
19peripheral vascular disease10.4CBS, MTHFR
20megaloblastic anemia10.4MTR
21cervicitis10.4
22septo-optic dysplasia10.4SOD1
23homocysteinemia due to mthfr deficiency10.4MTHFR, MTR
24fetal macrosomia10.4LEP
25neural tube defects, folate-sensitive10.4MTR, MTRR
26methylmalonic acidemia10.4MTR, MTHFR
27vitamin b12 deficiency10.3MTHFR, MTR
28disorders of intracellular cobalamin metabolism10.3MTR, MTRR
29hypermethioninemia10.3CBS, SOD1
30pulmonary embolism10.3MTHFR, CBS
31nutritional deficiency disease10.3MTHFR, IGFBP3
32homocysteinemia10.3MTR, MTHFR, CBS
33folic acid deficiency anemia10.3MTR, MTHFR, CBS
34imperforate anus10.3
35vascular disease10.3CBS, SOD2
36thromboembolism10.3CBS, MTHFR, MTR
37cleft palate10.3MTHFR, PAX3, MTR
38gonadal disease10.3GNRH1, IGF1
39penis agenesis10.3IGFBP3, GNRH1
40acth deficiency10.3PRL
41cleft lip10.3MTR, MTRR, MTHFR
42neurogenic bowel10.3
43cerebritis10.3
44rabson-mendenhall syndrome10.2IGFBP3, IGF1
45huntington's disease10.2CBS, TPPP3, SOD1
46aorta atresia10.2IGFBP3, GNRH1
47male infertility10.2GNRH1, SOD1, MTHFR
48insulin-like growth factor 1 resistance to10.2IGFBP3, IGF1
49chiari malformation type 210.2
50cerebrovascular disease10.2TRH, MTR, 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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Drug clinical trials:

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Genetic Tests for Myelomeningocele

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Anatomical Context for Myelomeningocele

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MalaCards organs/tissues related to Myelomeningocele:

32
Spinal cord, Brain, Bone, Skin, Smooth muscle, Testes, Cortex, Heart, Small intestine, Liver, Uterus, Placenta, Testis, Tonsil

Animal Models for Myelomeningocele or affiliated genes

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MGI Mouse Phenotypes related to Myelomeningocele:

36 (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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Articles related to Myelomeningocele:

(show top 50)    (show all 539)
idTitleAuthorsYear
1
Who needs surgery for pediatric myelomeningocele? A retrospective study and literature review. (25029586)
2014
2
The Role of Echocardiography in the Intraoperative Management of the Fetus Undergoing Myelomeningocele Repair. (25059830)
2014
3
Muscle ultrasound quantifies segmental neuromuscular outcome in pediatric myelomeningocele. (24210858)
2014
4
L3-L5 Teratological Spondylolysis with Diastematomyelia and L4 Radicular Syndrome followed by Spondyloschisis without Myelomeningocele due to Somato-arcuate Shifting. (25264313)
2014
5
Improvement of motor function and decreased need for postnatal shunting in children who had undergone intrauterine myelomeningocele repair. (24141440)
2013
6
Genetic studies of myelomeningocele. (24013315)
2013
7
Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile. (23427181)
2013
8
Treatment of spinal deformity associated with myelomeningocele in young children with the use of the four-rib construct. (23787773)
2013
9
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
10
Strabismus in spina bifida myelomeningocele. (22998448)
2012
11
Psycholinguistic and scholastic abilities in children with myelomeningocele. (22231053)
2011
12
Prenatal versus postnatal repair of myelomeningocele. (21714661)
2011
13
Morphometric analysis of posterior fossa after in utero myelomeningocele repair. (21456906)
2011
14
Long-term urological impact of fetal myelomeningocele closure. (21862080)
2011
15
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
16
Transanal irrigation in myelomeningocele children: an alternative, safe and valid approach for neurogenic constipation. (20084075)
2010
17
Contributory factors to postoperative spinal fusion complications for children with myelomeningocele. (20354477)
2010
18
Bone mineral density in children with myelomeningocele. (18811711)
2009
19
Bulbar urethral ligation for managing persistent urinary incontinence in young men with myelomeningocele. (19245443)
2009
20
Editorial comment. Effect of pelvic floor interferential electrostimulation on urodynamic parameters and incontinency of children with myelomeningocele and detrusor overactivity. (19646616)
2009
21
Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele. (19487512)
2009
22
Oral findings and dental care in a patient with myelomeningocele: case report of a 3-year-old child. (20126914)
2009
23
Tissue expansion technique for closure of myelomeningocele. (21887171)
2009
24
Reversal of hindbrain herniation after maternal-fetal surgery for myelomeningocele subsequently impacts on brain stem function. (19569004)
2008
25
Morphologic analysis of the neuromuscular development of the anorectal unit in fetal rats with retinoic acid induced myelomeningocele. (18063303)
2008
26
Complications of clean intermittent catheterization in young females with myelomeningocele: 10 to 19 years of followup. (17632181)
2007
27
New anchoring method for tarsal tendon transfers in myelomeningocele patients. (19308534)
2007
28
Intrauterine surgery in myelomeningocele. (17716961)
2007
29
Double myelomeningocele in a neonate: Case report and review of the literature. (15936872)
2006
30
Evaluation of sexual function in young men with spina bifida and myelomeningocele using the International Index of Erectile Function. (16504267)
2006
31
Repeated intradetrusor botulinum toxin type A in children with neurogenic bladder due to myelomeningocele. (16469632)
2006
32
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
33
Adult tethered cord syndrome in patients with postrepair myelomeningocele: an evidence-based outcome study. (16156223)
2005
34
Impact of maternal-fetal surgery for myelomeningocele on the progression of ventriculomegaly in utero. (16150266)
2005
35
Prescribing the reciprocal gait orthosis for myelomeningocele children: a different approach and clinical outcome. (15204581)
2004
36
Kyphectomy in myelomeningocele with a modified Dunn-McCarthy technique followed by an anterior inlayed strut graft. (14714245)
2004
37
Prenatal intervention for urinary obstruction and myelomeningocele. (15707516)
2004
38
Embryology of myelomeningocele and anencephaly. (15209484)
2004
39
Grip force parameters in precision grip of individuals with myelomeningocele. (12647926)
2003
40
Myelomeningocele: prenatal evaluation--comparison between transabdominal US and MR imaging. (12714679)
2003
41
Maternal-fetal surgery for treatment of myelomeningocele. (12696793)
2003
42
The immunohistochemical profile of the myelomeningocele placode: is the placode normal? (14512686)
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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Expression patterns in normal tissues for genes affiliated with Myelomeningocele

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Pathways for genes affiliated with Myelomeningocele

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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 degradation37
9.9MTR, CBS
3
Show member pathways
Glycine Metabolism37
glycine biosynthesis I37
folate transformations37
9.9MTHFD1, MTR
4
Show member pathways
9.8SOD2, SOD1
59.8SOD1, SOD2
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.7CBS, MTHFR, MTR
7
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.6MTR, MTRR, CBS
8
Show member pathways
9.6CBS, MTRR, MTR
9
Show member pathways
Vitamin B12 Metabolism37
9.6MTRR, MTHFR, SOD1
10
Show member pathways
9.5TRH, LEP
119.4IGF1, IGFBP3
12
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
9.3MTHFD1, MTHFR, MTRR, MTR
139.2PAX3, IGF1, IGFBP3
14
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
9.1MTR, MTRR, MTHFR, MTHFD1, CBS
15
Show member pathways
thioredoxin pathway37
9.0SOD2, SOD1, CBS, MTHFR, MTR
168.8PRL, MTHFD1, MTHFR, MTRR, MTR

Compounds for genes affiliated with Myelomeningocele

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Compounds related to Myelomeningocele according to GeneCards/GeneDecks:

(show top 50)    (show all 196)
idCompoundScoreTop Affiliating Genes
15,10-methenyltetrahydrofolate449.8MTHFR, MTR, MTHFD1, CBS
2b vitamins449.8CBS, MTRR, MTR, MTHFR
3methylcobalamin44 2410.8MTRR, MTR, CBS, MTHFR
45-methyltetrahydrofolate44 1110.8MTRR, MTHFR, CBS, MTR
5betaine44 2410.7CBS, MTRR, MTR, MTHFR
6methylmalonic acid44 2410.7MTR, MTHFR, MTRR, CBS
7cystathionine449.5MTRR, MTHFR, MTHFD1, CBS, MTR
8cobalamin44 2410.5MTR, MTHFD1, MTHFR, MTRR, CBS
9thymidylate449.1CBS, MTR, MTRR, MTHFR, MTHFD1
10menadione44 24 1111.0SOD2, MTHFR, IGF1, SOD1, BGLAP
11homocysteine44 2410.0MTR, MTRR, CBS, MTHFD1, MTHFR
12betacarotene449.0LEP, IGFBP3, MTHFR, SOD1, SOD2
13buserelin44 28 1110.9IGFBP3, PRL, GNRH1, IGF1
14fenfluramine44 28 1110.8PRL, IGFBP3, LEP, TRH
15clomiphene citrate448.8GNRH1, IGF1, IGFBP3, PRL
16naltrexone44 28 50 1111.8IGFBP3, PRL, GNRH1, IGF1
17folate448.8SOD2, MTRR, MTR, MTHFR, IGFBP3, CBS
18ghrp448.8PRL, IGFBP3, IGF1, TRH
19vitamin b12448.8IGFBP3, IGF1, CBS, MTHFR, MTRR, MTR
20pyridostigmine44 119.8TRH, PRL, IGF1, IGFBP3
21cabergoline44 28 1110.7GNRH1, IGFBP3, PRL, IGF1
22estrone sulfate44 249.7PRL, IGFBP3, BGLAP, IGF1
23dehydroepiandrosterone sulfate448.5IGFBP3, PRL, GNRH1, IGF1, LEP
24ascorbic acid44 249.5SOD2, LEP, BGLAP, MTHFR, IGFBP3, SOD1
25aspartate448.5IGFBP3, BGLAP, GNRH1, MTHFR, MTR, MTRR
26octreotide44 61 28 1111.4IGF1, IGFBP3, GNRH1, PRL, TRH
27androstenedione44 249.4LEP, IGFBP3, IGF1, PRL, GNRH1
28methotrexate50 44 1110.4LEP, IGFBP3, SOD2, CBS, MTHFD1, MTHFR
29levodopa44 119.4TRH, PRL, IGF1, SOD1, MTHFR
30estrone44 28 24 1111.3LEP, GNRH1, BGLAP, IGFBP3, IGF1, PRL
31dihydrotestosterone44 28 24 1111.3PRL, GNRH1, LEP, BGLAP, IGFBP3, IGF1
32alpha tocopherol448.2MTHFR, SOD1, IGF1, SOD2, LEP, BGLAP
33bromocriptine44 28 1110.2SOD2, GNRH1, IGF1, IGFBP3, TRH, PRL
34triiodothyronine448.2PRL, TRH, LEP, IGF1, IGFBP3
35cisplatin44 50 61 1111.2MTHFR, GNRH1, MTR, LEP, SOD2, SOD1
36clonidine44 50 28 1111.1PRL, LEP, BGLAP, IGF1, IGFBP3, TRH
37cysteine448.0IGFBP3, BGLAP, LEP, SOD2, SOD1, MTHFR
38tamoxifen44 50 28 1111.0IGF1, IGFBP3, SOD2, BGLAP, PRL, GNRH1
39acth447.9IGF1, IGFBP3, PRL, TRH, LEP, GNRH1
40thyroxine44 248.8TRH, PRL, GNRH1, LEP, IGFBP3, IGF1
41gnrh447.8PRL, GNRH1, LEP, IGF1, TRH, IGFBP3
42estradiol44 24 119.7IGFBP3, TRH, PRL, IGF1, GNRH1, LEP
43glutamate447.7IGFBP3, CBS, GNRH1, SOD1, MTHFR, LEP
44norepinephrine44 24 119.6PRL, IGFBP3, LEP, SOD2, TRH, GNRH1
45creatinine447.6BGLAP, IGF1, GNRH1, IGFBP3, SOD2, SOD1
46dexamethasone44 50 28 1110.4IGF1, PRL, SOD2, GNRH1, TRH, LEP
47dopamine44 28 24 1110.4IGF1, TRH, MTHFR, PRL, SOD2, GNRH1
48testosterone44 61 24 1110.2IGFBP3, IGF1, LEP, GNRH1, SOD2, PRL
49estrogen447.2TRH, IGFBP3, IGF1, BGLAP, LEP, GNRH1
50arginine446.9SOD2, IGFBP3, IGF1, BGLAP, LEP, TRH

GO Terms for genes affiliated with Myelomeningocele

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Cellular components related to Myelomeningocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.1IGFBP3, IGF1
2extracellular spaceGO:0056158.1SOD1, GNRH1, LEP, BGLAP, IGF1, IGFBP3
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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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51PubMed
52QIAGEN
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62UMLS
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