MCID: MYL020
MIFTS: 54

Myelomeningocele malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Myelomeningocele

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 3CDC, 26ICD10 via Orphanet
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Summaries for Myelomeningocele

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NIH Rare Diseases:41 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 neural tube defects, folate-sensitive 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.

CDC:3 Spina bifida is a major birth defect of a person’s spine. With good quality medical care people with spina bifida can reach their full potential. If you have spina bifida, or know someone who does, it’s important to get the facts so that you can make the best possible health care choices.

Wikipedia:63 Spina bifida (Latin: \"split spine\") is a developmental congenital disorder caused by the incomplete... more...

Related Diseases for Myelomeningocele

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

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects, folate-sensitive30.4MTRR, MTR
2neural tube defects30.4PAX3, CBS, MTHFD1, MTHFR, MTRR, MTR
3hyperhomocysteinemia29.9MTR, MTRR, MTHFR, CBS, SOD1
4obesity29.4IGFBP3, IGF1, LEP, SOD2, CBS, TRH
5growth hormone deficiency29.3IGFBP3, IGF1, BGLAP, LEP, PRL
6precocious puberty29.0IGFBP3, IGF1, LEP, GNRH1, PRL
7hydrocephalus10.6
8eclampsia10.6MTHFR
9endogenous depression10.6TRH
10melancholia10.5TRH
11exophthalmos10.5TRH
12hyperthyroxinemia10.5TRH
13mccune-albright syndrome, somatic, mosaic10.5GNRH1
14gonorrhea10.5MTRR
15neurogenic bladder10.5
16chiari malformation10.4
17peripheral vascular disease10.4CBS, MTHFR
18megaloblastic anemia10.4MTR
19cervicitis10.4
20septooptic dysplasia10.4SOD1
21homocysteinemia due to mthfr deficiency10.4MTHFR, MTR
22fetal macrosomia10.4LEP
23scoliosis10.4
24methylmalonic acidemia10.3MTHFR, MTR
25disorders of intracellular cobalamin metabolism10.3MTRR, MTR
26vitamin b12 deficiency10.3MTHFR, MTR
27hypermethioninemia10.3CBS, SOD1
28nutritional deficiency disease10.3IGFBP3, MTHFR
29pulmonary embolism10.3CBS, MTHFR
30homocysteinemia10.3CBS, MTHFR, MTR
31imperforate anus10.3
32folic acid deficiency anemia10.3MTR, MTHFR, CBS
33thrombophilia due to thrombin defect10.3MTR, MTHFR, CBS
34vascular disease10.3CBS, SOD2
35cleft palate, isolated10.3MTR, MTHFR, PAX3
36gonadal disease10.3IGF1, GNRH1
37penis agenesis10.3IGFBP3, GNRH1
38renal agenesis meningomyelocele mullerian defect10.3
39neurogenic bowel10.3
40cerebritis10.3
41cleft lip10.2MTHFR, MTRR, MTR
42acth deficiency10.2PRL
43rabson-mendenhall syndrome10.2IGFBP3, IGF1
44huntington disease10.2TPPP3, SOD1, CBS
45male infertility10.2GNRH1, SOD1, MTHFR
46insulin-like growth factor 1 resistance to10.2IGFBP3, IGF1
47split cord malformation10.2
48sacrococcygeal teratoma10.2
49cerebrovascular disease10.2TRH, MTR, MTHFR, CBS
50laron dwarfism10.2IGFBP3, IGF1

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:

31
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:

35 (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 558)
idTitleAuthorsYear
1
Physical model from 3D ultrasound and magnetic resonance imaging scan data reconstruction of lumbosacral myelomeningocele in a fetus with Chiari II malformation. (25686895)
2015
2
Who needs surgery for pediatric myelomeningocele? A retrospective study and literature review. (25029586)
2014
3
The Role of Echocardiography in the Intraoperative Management of the Fetus Undergoing Myelomeningocele Repair. (25059830)
2014
4
Muscle ultrasound quantifies segmental neuromuscular outcome in pediatric myelomeningocele. (24210858)
2014
5
L3-L5 Teratological Spondylolysis with Diastematomyelia and L4 Radicular Syndrome followed by Spondyloschisis without Myelomeningocele due to Somato-arcuate Shifting. (25264313)
2014
6
Improvement of motor function and decreased need for postnatal shunting in children who had undergone intrauterine myelomeningocele repair. (24141440)
2013
7
Genetic studies of myelomeningocele. (24013315)
2013
8
Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile. (23427181)
2013
9
Treatment of spinal deformity associated with myelomeningocele in young children with the use of the four-rib construct. (23787773)
2013
10
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
11
Strabismus in spina bifida myelomeningocele. (22998448)
2012
12
Psycholinguistic and scholastic abilities in children with myelomeningocele. (22231053)
2011
13
Prenatal versus postnatal repair of myelomeningocele. (21714661)
2011
14
Morphometric analysis of posterior fossa after in utero myelomeningocele repair. (21456906)
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
Anesthetic management in intrauterine surgery to evaluate an experimental model of myelomeningocele in non human primates (Macaca mulatta). (20498944)
2010
17
Transanal irrigation in myelomeningocele children: an alternative, safe and valid approach for neurogenic constipation. (20084075)
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
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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Search GEO for disease gene expression data for Myelomeningocele.

Pathways for genes affiliated with Myelomeningocele

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Pathways related to Myelomeningocele according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0MTHFR, CBS
2
Show member pathways
cysteine biosynthesis/homocysteine degradation36
9.9MTR, CBS
3
Show member pathways
Glycine Metabolism36
glycine biosynthesis I36
folate transformations36
9.9MTHFD1, MTR
4
Show member pathways
9.8SOD2, SOD1
59.8SOD1, SOD2
6
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.7CBS, MTHFR, MTR
7
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.6MTR, MTRR, CBS
8
Show member pathways
9.6CBS, MTRR, MTR
9
Show member pathways
Vitamin B12 Metabolism36
9.6MTRR, MTHFR, SOD1
10
Show member pathways
9.5TRH, LEP
119.4IGF1, IGFBP3
12
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.3MTHFD1, MTHFR, MTRR, MTR
139.2PAX3, IGF1, IGFBP3
14
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
9.1MTR, MTRR, MTHFR, MTHFD1, CBS
15
Show member pathways
thioredoxin pathway36
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 Suite gene sharing:

(show top 50)    (show all 196)
idCompoundScoreTop Affiliating Genes
15,10-methenyltetrahydrofolate439.8MTHFR, MTR, MTHFD1, CBS
2b vitamins439.8CBS, MTRR, MTR, MTHFR
3methylcobalamin43 2410.8MTRR, MTR, CBS, MTHFR
45-methyltetrahydrofolate43 1210.8MTRR, MTHFR, CBS, MTR
5betaine43 2410.7CBS, MTRR, MTR, MTHFR
6methylmalonic acid43 2410.7MTR, MTHFR, MTRR, CBS
7cystathionine439.5MTRR, MTHFR, MTHFD1, CBS, MTR
8cobalamin43 2410.5MTR, MTHFD1, MTHFR, MTRR, CBS
9thymidylate439.1CBS, MTR, MTRR, MTHFR, MTHFD1
10menadione43 24 1211.0SOD2, MTHFR, IGF1, SOD1, BGLAP
11homocysteine43 2410.0MTR, MTRR, CBS, MTHFD1, MTHFR
12betacarotene439.0LEP, IGFBP3, MTHFR, SOD1, SOD2
13buserelin43 28 1210.9IGFBP3, PRL, GNRH1, IGF1
14fenfluramine43 28 1210.8PRL, IGFBP3, LEP, TRH
15clomiphene citrate438.8GNRH1, IGF1, IGFBP3, PRL
16naltrexone43 28 49 1211.8IGFBP3, PRL, GNRH1, IGF1
17folate438.8SOD2, MTRR, MTR, MTHFR, IGFBP3, CBS
18ghrp438.8PRL, IGFBP3, IGF1, TRH
19vitamin b12438.8IGFBP3, IGF1, CBS, MTHFR, MTRR, MTR
20pyridostigmine43 129.8TRH, PRL, IGF1, IGFBP3
21cabergoline43 28 1210.7GNRH1, IGFBP3, PRL, IGF1
22estrone sulfate43 249.7PRL, IGFBP3, BGLAP, IGF1
23dehydroepiandrosterone sulfate438.5IGFBP3, PRL, GNRH1, IGF1, LEP
24ascorbic acid43 249.5SOD2, LEP, BGLAP, MTHFR, IGFBP3, SOD1
25aspartate438.5IGFBP3, BGLAP, GNRH1, MTHFR, MTR, MTRR
26octreotide43 59 28 1211.4IGF1, IGFBP3, GNRH1, PRL, TRH
27androstenedione43 249.4LEP, IGFBP3, IGF1, PRL, GNRH1
28methotrexate49 43 1210.4LEP, IGFBP3, SOD2, CBS, MTHFD1, MTHFR
29levodopa43 129.4TRH, PRL, IGF1, SOD1, MTHFR
30estrone43 28 24 1211.3LEP, GNRH1, BGLAP, IGFBP3, IGF1, PRL
31dihydrotestosterone43 28 24 1211.3PRL, GNRH1, LEP, BGLAP, IGFBP3, IGF1
32alpha tocopherol438.2MTHFR, SOD1, IGF1, SOD2, LEP, BGLAP
33bromocriptine43 28 1210.2SOD2, GNRH1, IGF1, IGFBP3, TRH, PRL
34triiodothyronine438.2PRL, TRH, LEP, IGF1, IGFBP3
35cisplatin43 49 59 1211.2MTHFR, GNRH1, MTR, LEP, SOD2, SOD1
36clonidine43 49 28 1211.1PRL, LEP, BGLAP, IGF1, IGFBP3, TRH
37cysteine438.0IGFBP3, BGLAP, LEP, SOD2, SOD1, MTHFR
38tamoxifen43 49 28 1211.0IGF1, IGFBP3, SOD2, BGLAP, PRL, GNRH1
39acth437.9IGF1, IGFBP3, PRL, TRH, LEP, GNRH1
40thyroxine43 248.8TRH, PRL, GNRH1, LEP, IGFBP3, IGF1
41gnrh437.8PRL, GNRH1, LEP, IGF1, TRH, IGFBP3
42estradiol43 24 129.7IGFBP3, TRH, PRL, IGF1, GNRH1, LEP
43glutamate437.7IGFBP3, CBS, GNRH1, SOD1, MTHFR, LEP
44norepinephrine43 24 129.6PRL, IGFBP3, LEP, SOD2, TRH, GNRH1
45creatinine437.6BGLAP, IGF1, GNRH1, IGFBP3, SOD2, SOD1
46dexamethasone43 49 28 1210.4IGF1, PRL, SOD2, GNRH1, TRH, LEP
47dopamine43 28 24 1210.4IGF1, TRH, MTHFR, PRL, SOD2, GNRH1
48testosterone43 59 24 1210.2IGFBP3, IGF1, LEP, GNRH1, SOD2, PRL
49estrogen437.2TRH, IGFBP3, IGF1, BGLAP, LEP, GNRH1
50arginine436.9SOD2, IGFBP3, IGF1, BGLAP, LEP, TRH

GO Terms for genes affiliated with Myelomeningocele

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Cellular components related to Myelomeningocele according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:00169429.1IGFBP3, IGF1
2extracellular spaceGO:00056158.1SOD1, GNRH1, LEP, BGLAP, IGF1, IGFBP3
3extracellular regionGO:00055766.9TRH, PRL, SOD1, GNRH1, LEP, BGLAP

Biological processes related to Myelomeningocele according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:005066710.3MTHFR, CBS
2tetrahydrofolate interconversionGO:003599910.3MTHFD1, MTHFR
3response to folic acidGO:005159310.3MTHFR, CBS
4response to superoxideGO:000030310.1SOD1, SOD2
5hydrogen peroxide biosynthetic processGO:005066510.1SOD2, SOD1
6methionine biosynthetic processGO:000908610.1MTRR, MTHFR, MTHFD1
7folic acid metabolic processGO:004665510.1MTRR, MTHFR, MTHFD1
8methylationGO:003225910.1MTRR, MTR
9removal of superoxide radicalsGO:001943010.1SOD2, SOD1
10superoxide anion generationGO:004255410.0SOD2, SOD1
11cobalamin metabolic processGO:000923510.0MTR, MTRR
12sulfur amino acid metabolic processGO:000009610.0CBS, MTRR, MTR
13regulation of mitochondrial membrane potentialGO:005188110.0SOD2, SOD1
14superoxide metabolic processGO:00068019.9SOD2, SOD1, CBS
15response to zinc ionGO:00100439.9SOD2, BGLAP
16response to activityGO:00148239.9SOD2, BGLAP
17response to axon injuryGO:00486789.8SOD2, SOD1
18positive regulation of cytokine productionGO:00018199.8LEP, SOD1
19bone mineralization involved in bone maturationGO:00356309.8LEP, IGF1
20positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.7IGFBP3, IGF1
21water-soluble vitamin metabolic processGO:00067679.7MTHFD1, MTHFR, MTRR, MTR
22vitamin metabolic processGO:00067669.7MTHFD1, MTHFR, MTRR, MTR
23regulation of blood pressureGO:00082179.7LEP, SOD2, SOD1
24eating behaviorGO:00427559.6TRH, LEP
25response to drugGO:00424939.6MTHFR, SOD1, SOD2, BGLAP
26cell agingGO:00075699.5SOD1, BGLAP
27cellular nitrogen compound metabolic processGO:00346419.5CBS, MTRR, MTR
28female pregnancyGO:00075659.5PRL, GNRH1, LEP
29response to ethanolGO:00454719.4TRH, SOD1, GNRH1, BGLAP
30regulation of multicellular organism growthGO:00400149.3IGF1, SOD1, PRL
31positive regulation of MAPK cascadeGO:00434109.3LEP, IGF1, IGFBP3
32response to hypoxiaGO:00016669.3LEP, SOD2, MTHFR, TRH
33negative regulation of cell proliferationGO:00082859.1IGFBP3, IGF1, GNRH1, SOD2

Molecular functions related to Myelomeningocele according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:007234110.0MTHFR, CBS
2superoxide dismutase activityGO:00047849.5SOD1, SOD2
3hormone activityGO:00051798.5PRL, GNRH1, LEP, IGF1

Products for genes affiliated with Myelomeningocele

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Sources for Myelomeningocele

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
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51QIAGEN
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