MCID: SPN038
MIFTS: 70

Spina Bifida malady

Neuronal diseases category

Summaries for Spina Bifida

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42NIH Rare Diseases, 33MedlinePlus, 3CDC, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).

MalaCards: Spina Bifida, also known as spinal dysraphism, is related to neural tube defects and myelomeningocele. An important gene associated with Spina Bifida is CCL2 (chemokine (C-C motif) ligand 2), and among its related pathways are One Carbon Metabolism and Metabolism of vitamins and cofactors. The compounds folate and homocysteine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related mouse phenotypes are mortality/aging and growth/size.

NIH Rare Diseases:42 Spina bifida is a type of neural tube defect in which the bones of the spinal column do not close completely around the developing nerves of the spinal cord during the development of the embryo. as a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. children born with spina bifida often have a fluid-filled sac on their back covered by skin. if the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele; if it does not, it is known as a meningocele. the signs and symptoms range from mild to severe (depending on the location and extent of spinal cord involvement) and can include a loss of feeling below the level of the opening; weakness or paralysis of the feet or legs; problems with bladder and bowel control; hydrocephalus; and learning problems. with surgery and other forms of treatment, many people with spina bifida live into adulthood. there is also a milder form of the condition called spina bifida occulta. last updated: 5/9/2011

MedlinePlus:33 Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. it happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. this can damage the nerves and spinal cord. screening tests during pregnancy can check for spina bifida. sometimes it is discovered only after the baby is born. the symptoms of spina bifida vary from person to person. most people with spina bifida are of normal intelligence. some people need assistive devices such as braces, crutches, or wheelchairs. they may have learning difficulties, urinary and bowel problems, or hydrocephalus, a buildup of fluid in the brain. the exact cause of spina bifida is unknown. it seems to run in families. taking folic acid can reduce the risk of having a baby with spina bifida. it's in most multivitamins. women who could become pregnant should take it daily. nih: national institute of neurological disorders and stroke

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.

Genetics Home Reference:21 Spina bifida is a condition in which the bones of the spinal column do not close completely around the developing nerves of the spinal cord. As a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Spina bifida results when a structure called the neural tube fails to close completely during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect (NTD).

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

Description from OMIM:46 182940

Aliases & Classifications for Spina Bifida

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 33MedlinePlus, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

spina bifida 8 42 21 43 46 10 44 33
spinal dysraphism 42 21
rachischisis 42 21
cleft spine 42 21
open spine 42 21


External Ids:

Disease Ontology8 DOID:0080016
ICD1025 Q05, Q05.4

Related Diseases for Spina Bifida

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

(show top 50)    (show all 229)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects31.2T, MTHFR
2myelomeningocele31.2CBS, MTHFR
3cleft palate30.6MTHFR, SLC19A1, MTR
4hypertension30.5MTHFR, CCL2
5cleft lip30.4MTR, SLC19A1, MTHFR, MTRR
6congenital heart defect30.3MTHFR
7craniorachischisis30.3VANGL2
8strabismus30.3VANGL2
9down syndrome30.1MTR, MTHFR, MTRR, AFP, CBS, SLC19A1
10breast cancer30.1MTRR, SLC19A1, FOLR1, MTHFR, DHFR, CBS
11adenocarcinoma30.1AFP, FOLR1
12vascular disease30.1CBS
13schizophrenia30.1MTHFR
14rheumatoid arthritis30.1MTHFR, DHFR, CCL2, SLC19A1
15arthritis30.1CCL2
16diabetes mellitus30.1MTHFR, CCL2
17hydrocephalus10.8
18spina bifida cystica10.8
19spina bifida aperta10.8
20myelocystocele10.7
21posterior meningocele10.7
22cerebritis10.6
23meningocele10.6
24neurogenic bladder10.6
25split hand urinary anomalies spina bifida10.6
26occult spinal dysraphism10.6
27cervicitis10.5
28spina bifida occulta10.5
29cerebral palsy10.5
30spina bifida hypospadias10.5
31tethered spinal cord syndrome10.5
32anencephaly and spina bifida x-linked10.4
33fecal incontinence10.4
34spondylolisthesis10.4
35constipation10.4
36obesity10.4
37neuronitis10.3
38orofacial cleft10.3
39chiari malformation type 210.3
40caudal regression syndrome10.3
41kasznica carlson coppedge syndrome10.3
42iniencephaly10.3
43upper thoracic spina bifida aperta10.3
44cervical spina bifida aperta10.3
45bacteriuria10.2
46syringomyelia10.2
47tuberous sclerosis10.2
48neurogenic bowel10.2
49digeorge syndrome10.2
50spondylolysis10.2

Graphical network of the top 20 diseases related to Spina Bifida:



Diseases related to spina bifida

Clinical Features for Spina Bifida

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46OMIM
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Clinical features from OMIM:

182940

Drugs & Therapeutics for Spina Bifida

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Spina Bifida

Drug clinical trials:

Search ClinicalTrials for Spina Bifida

Search NIH Clinical Center for Spina Bifida

Search CenterWatch for Spina Bifida

Genetic Tests for Spina Bifida

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Anatomical Context for Spina Bifida

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Spina Bifida:

32
Spinal cord, Brain, Bone, Skin, Testes, Kidney, Colon, Heart, Cerebellum, Bone marrow, Breast, Endothelial, Pituitary, Lung, Temporal lobe, Dorsal root ganglion

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Spina Bifida:
id TissueAnatomical CompartmentCell Relevance
1 Neural TubeNeural Tube  Affected by disease

Animal Models for Spina Bifida or affiliated genes

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36MGI
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Publications for Spina Bifida

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50PubMed
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Articles related to Spina Bifida:

(show top 50)    (show all 1000)
idTitleAuthorsYear
1
Prenatal latex sensitization in patients with spina bifida: a pilot study. (24404967)
2014
2
Left-sided Poland's syndrome in a girl with rare associations like spina bifida and diaphragmatic hernia. (24057335)
2013
3
Transgenic studies on homeobox genes in nervous system development: spina bifida in Isl1 transgenic mice. (23054727)
2013
4
A systematic review on bowel management and the success rate of the various treatment modalities in spina bifida patients. (24126852)
2013
5
Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. (23913553)
2013
6
The longest faun tail forming dreadlocks with underlying spina bifida occulta. (24021371)
2013
7
Experiences of participation in a Swedish society among adults with cerebral palsy or spina bifida: involvement and challenges. (24224972)
2013
8
Treatment of pressure sores in spina bifida patients with calcium alginate and foam dressings. (23832732)
2013
9
The natural history of spina bifida in children pilot project: research protocol. (23612276)
2013
10
Biparietal diameter at 11-13 weeks' gestation in fetuses with open spina bifida. (23362051)
2013
11
The effects of transanal irrigation as a stepwise bowel management program on the quality of life of children with spina bifida and their caregivers. (23439065)
2013
12
The history of the surgical repair of spina bifida. (22669521)
2012
13
Causal connection of non-specific low back pain and disc degeneration in children with transitional vertebra and/or Spina bifida occulta: role of magnetic resonance--prospective study. (22856255)
2012
14
Comparative proteomics of spinal cords of rat fetuses with spina bifida aperta. (21945729)
2011
15
Correlation of spine deformity, lung function, and seat pressure in spina bifida. (21125362)
2011
16
A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis. (22140583)
2011
17
Need for the life course model for spina bifida. (20883879)
2010
18
Optimizing health care for adults with spina bifida. (20419774)
2010
19
Evaluating outcomes of enterocystoplasty in patients with spina bifida: a review of the literature. (18930285)
2008
20
Spina bifida occulta: is it a predictor of underlying spinal cord abnormality in patients with lower urinary tract dysfunction? (18352778)
2008
21
Neural stem cell delivery to the spinal cord in an ovine model of fetal surgery for spina bifida. (18707035)
2008
22
Minimally invasive approach for treatment of urinary and fecal incontinence in selected patients with spina bifida. (17905118)
2007
23
Cervical spina bifida cystica: MRI differentiation of the subtypes in children. (15959736)
2006
24
Risk factors for neural tube defects: associations between uncoupling protein 2 polymorphisms and spina bifida. (12797456)
2003
25
An examination of polymorphic genes and folate metabolism in mothers affected by a spina bifida pregnancy. (11509014)
2001
26
Hyperacusis in children with spina bifida; a pilot-study. (9497120)
1997
27
Changes of the lumbar spinal canal proximal to spina bifida occulta. An archaeologic study with clinical significance. (7939984)
1994
28
Spina bifida occulta of S1 is not an innocent finding. (8153797)
1994
29
Adult patients with spina bifida cystica: genetic counselling, pregnancy and delivery. (8119478)
1993
30
The Chief Scientist reports.... Pattern of decline in prevalence of anencephaly and spina bifida in a high risk area. (1399588)
1992
31
Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery. (1746602)
1991
32
Spina bifida occulta: early clinical and radiographic diagnosis. (2647936)
1989
33
Interaction between selenium and zinc in the pathogenesis of anencephaly and spina bifida. (2696286)
1989
34
Spina bifida and anencephaly in Scotland. (6437477)
1984
35
Low levels of vitamins A, C and E in Nigerian children with spina bifida cystica. (7127454)
1982
36
The composition of amniotic fluid in pregnancies complicated by fetal anencephaly or spina bifida. (387064)
1979
37
Heterotopic dorsal-root ganglion cells around the spinal cord in children with spina bifida aperta. (797611)
1976
38
The incidence of spina bifida occulta in idiopathic scoliosis. (782757)
1976
39
Endocrine dysfunction and anencephaly and spina bifida: an epidemiologic hypothesis. (4359509)
1974
40
Spina bifida cystica: survey of 107 cases. (4555368)
1972
41
Unrecognised epidemic of anencephaly and spina bifida. (4099330)
1971
42
Spina bifida cystica. (4867054)
1968
43
Spina bifida cystica: a follow-up survey. (5339677)
1967
44
Annual Meeting, Swansea: Scientific Proceedings (concluded): Spina Bifida Cystica. (20790635)
1965
45
The treatment of functional disorders of the bladder in spina bifida aperta. (5325228)
1965
46
Enuresis due to spina bifida occulta. (13752451)
1961
47
Spina bifida with meningocele. (13621867)
1958
48
Late neurologic symptoms of spina bifida occulta: report of case. (13297807)
1956
49
Spina Bifida Occulta. (19978286)
1914
50
II. Cases of Operation in Spina Bifida and Encephalocele. (17859817)
1892

Genetic Variations for Spina Bifida

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Spina Bifida:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1CELSR1p.Ala773ValVAR_067213rs12170597
2CELSR1p.Arg2438GlnVAR_067215rs199688538
3CELSR1p.Ser2964LeuVAR_067217rs6008777
4CELSR1p.Pro2983AlaVAR_067218rs61741871
5DACT1p.Asn356LysVAR_068429
6SCRIBp.Pro454SerVAR_067219
7SCRIBp.Arg1535GlnVAR_067220
8VANGL1p.Arg274GlnVAR_035210
9VANGL1p.Met328ThrVAR_035211
10VANGL2p.Ser84PheVAR_067221
11VANGL2p.Arg353CysVAR_067222
12VANGL2p.Phe437SerVAR_067223

Expression for genes affiliated with Spina Bifida

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spina Bifida

Search GEO for disease gene expression data for Spina Bifida.

Pathways for genes affiliated with Spina Bifida

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Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 49PharmGKB, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Spina Bifida according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6MTHFD1, MTHFR, MTR, DHFR, BHMT, MTRR
2
Hide members
10.6SLC19A1, DHFR, MTR, MTHFR, MTHFD1, MTRR
3
Hide members
10.6DHFR, MTR, MTHFR, MTHFD1, MTRR, CBS
410.6CBS, MTR, CCL2, MTHFR
5
Hide members
10.6MTRR, MTR, BHMT, CBS
610.6BHMT, CBS, MTR, MTRR
710.6T, AFP, SCRIB
8
Hide members
10.5MTHFD1, MTHFR, MTR
9
Hide members
10.5MTHFR, CBS, MTR
10
Hide members
10.5MTR, BHMT, CBS
11
Hide members
10.5MTRR, CBS, MTR
1210.5MTR, BHMT
1310.5MTR, MTRR
1410.5MTHFR, DHFR
1510.5MTR, CBS
16
Hide members
10.5DHFR, SLC19A1

Compounds for genes affiliated with Spina Bifida

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Spina Bifida according to GeneCards/GeneDecks:

(show top 50)    (show all 73)
idCompoundScoreTop Affiliating Genes
1folate4411.1MTHFD1, MTRR, MTHFR, MTR, BHMT, CBS
2homocysteine44 2412.1MTHFR, CCL2, MTR, BHMT, CBS, SLC19A1
3methotrexate44 49 1113.1MTRR, MTHFD1, MTHFR, MTR, AFP, CBS
4thymidylate4411.1MTHFR, MTR, CBS, DHFR, SLC19A1, MTHFD1
5vitamin b124411.1MTRR, CBS, BHMT, AFP, CCL2, MTHFR
6methionine4411.1SLC19A1, BHMT, MTR, FOLR1, MTRR, CBS
7cystathionine4411.0CBS, BHMT, MTR, MTHFR, MTHFD1, MTRR
8s-adenosylmethionine44 11 2413.0CBS, BHMT, MTR, SLC19A1, MTRR, MTHFR
95-methyltetrahydrofolate44 1112.0MTHFR, SLC19A1, CBS, MTRR, FOLR1, MTR
1010-formyltetrahydrofolate4411.0SLC19A1, MTR, MTHFR, MTHFD1, DHFR
11betaine44 2412.0BHMT, MTR, MTHFR, MTRR, CBS
12cobalamin44 2412.0MTRR, MTHFD1, MTHFR, MTR, CBS
13tetrahydrofolate4411.0MTR, SLC19A1, DHFR, MTHFR, MTRR
14aspartate4411.0MTR, CCL2, MTRR, PCMT1, DHFR, AFP
15cisplatin44 49 59 1114.0AFP, MTR, FOLR1, MTHFR, DHFR, CCL2
16purine44 2412.0MTHFD1, MTHFR, MTR, CBS, DHFR, SLC19A1
17vitamin b64411.0CBS, BHMT, MTR, MTHFR, MTHFD1
185,10-methenyltetrahydrofolate4411.0MTHFD1, MTHFR, MTR, CBS
19dihydrofolate4411.0FOLR1, MTHFR, SLC19A1, DHFR, MTR
20s-adenosylhomocysteine44 2412.0MTRR, MTHFR, MTR, CBS, PCMT1
21b vitamins4411.0CBS, MTHFR, MTR, MTRR
22methylcobalamin44 2412.0MTHFR, MTR, MTRR, CBS
23serine4411.0CBS, BHMT, AFP, CCL2
24Tetrahydrofolic acid11 2412.0DHFR, MTR, MTHFR, MTHFD1
25methylmalonic acid44 2411.9MTR, MTRR, MTHFR, CBS
26nadph44 2411.9CCL2, MTRR, MTHFR, MTR, MTHFD1, DHFR
27folic acid49 11 2412.9SLC19A1, DHFR, MTHFR, FOLR1
28leucovorin44 49 1112.9DHFR, SLC19A1, FOLR1, MTHFR
295fluorouracil4410.9CCL2, SLC19A1, DHFR, AFP, MTHFR
30trimetrexate44 1111.9DHFR, FOLR1, SLC19A1
31cyanocobalamin49 11 2412.9MTRR, MTHFR, MTR
32hydroxocobalamin44 1111.9MTRR, MTHFR, MTR
33tomudex4410.9FOLR1, DHFR, SLC19A1
34L-Methionine11 2411.9MTRR, MTR, BHMT
35riboflavin44 11 2412.8BHMT, MTHFR, MTRR
36pt 4304410.8SLC19A1, DHFR
37methyl-group4410.8MTHFR, MTR
38ch2h4folate4410.8MTHFR, MTHFD1
39cob(ii)alamin44 2411.8MTR, MTRR
40metoprine4410.8DHFR, SLC19A1
41ag 3374410.7DHFR, SLC19A1
42ag 3314410.7SLC19A1, DHFR
43sulfasalazine44 28 49 1113.7MTHFR, CCL2, SLC19A1
44pt5234410.7DHFR, SLC19A1
45cyclophosphamide44 49 1112.7MTHFR, AFP, DHFR, CCL2
46n-hydroxysuccinimide4410.6SLC19A1, FOLR1
47ag 20344410.5DHFR, SLC19A1
48hdmtx4410.5DHFR, SLC19A1
49aicar44 11 2412.4DHFR, SLC19A1, CCL2
50carbon4410.3DHFR, MTHFR, MTR, AFP

GO Terms for genes affiliated with Spina Bifida

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573710.7ALDH1A2, CCL2, MTRR, MTHFD1, MTR, AFP

Biological processes related to Spina Bifida according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1neural tube closureGO:00184311.0ZIC2, SCRIB, T, VANGL2, CELSR1
2methionine biosynthetic processGO:00908610.9BHMT, MTHFR, MTHFD1, MTRR
3water-soluble vitamin metabolic processGO:00676710.9SLC19A1, MTR, MTHFR, MTHFD1, MTRR
4vitamin metabolic processGO:00676610.9MTRR, MTHFD1, MTHFR, MTR, SLC19A1
5folic acid metabolic processGO:04665510.9FOLR1, MTHFD1, MTHFR, SLC19A1
6sulfur amino acid metabolic processGO:00009610.9MTRR, MTR, BHMT, CBS
7lateral sprouting involved in lung morphogenesisGO:06049010.9VANGL2, CELSR1
8planar dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:06048910.9VANGL2, CELSR1
9cellular nitrogen compound metabolic processGO:03464110.8MTRR, MTR, BHMT, CBS
10orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:06048810.8VANGL2, CELSR1
11small molecule metabolic processGO:04428110.8MTRR, MTHFD1, MTHFR, MTR, BHMT, CBS
12establishment of body hair planar orientationGO:04810510.8VANGL2, CELSR1
13wound healingGO:04206010.8SCRIB, VANGL2, CELSR1
14homocysteine metabolic processGO:05066710.8CBS, MTHFR
15tetrahydrofolate interconversionGO:03599910.8MTHFR, MTHFD1
16folic acid transportGO:01588410.8FOLR1, SLC19A1
17apical protein localizationGO:04517610.7VANGL2, CELSR1
18establishment of planar polarityGO:00173610.7VANGL2, CELSR1
19anterior/posterior pattern specificationGO:00995210.7ALDH1A2, CELSR1, VANGL2
20protein methylationGO:00647910.6PCMT1, BHMT
21planar cell polarity pathway involved in neural tube closureGO:09017910.6VANGL2, CELSR1
22methylationGO:03225910.5MTRR, MTR
23cobalamin metabolic processGO:00923510.5MTR, MTRR
24SMAD protein signal transductionGO:06039510.4T, AFP
25post-anal tail morphogenesisGO:03634210.2VANGL2, T

Molecular functions related to Spina Bifida according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1folic acid bindingGO:00554210.5SLC19A1, FOLR1
2homocysteine S-methyltransferase activityGO:00889810.4BHMT, MTR
3modified amino acid bindingGO:07234110.2CBS, MTHFR

Products for genes affiliated with Spina Bifida

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Sources for Spina Bifida

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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
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet