NTDFS
MCID: NRL018
MIFTS: 47

Neural Tube Defects, Folate-Sensitive (NTDFS)

Categories: Genetic diseases

Aliases & Classifications for Neural Tube Defects, Folate-Sensitive

MalaCards integrated aliases for Neural Tube Defects, Folate-Sensitive:

Name: Neural Tube Defects, Folate-Sensitive 58 76 30 6 41
Neural Tube Defects, Folate-Sensitive, Susceptibility to 58 13 6
Neural Tube Defect, Folate-Sensitive 77 74
Ntdfs 58 76
Neural Tube Defects, Susceptibility to 58
Ntd, Folate-Sensitive 58
Neural Tube Defects 58

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive


Classifications:



External Ids:

OMIM 58 601634
SNOMED-CT via HPO 70 253098009
UMLS 74 C1866558

Summaries for Neural Tube Defects, Folate-Sensitive

OMIM : 58 Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005). Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects. Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects. (601634)

MalaCards based summary : Neural Tube Defects, Folate-Sensitive, also known as neural tube defects, folate-sensitive, susceptibility to, is related to neural tube defects and anencephaly. An important gene associated with Neural Tube Defects, Folate-Sensitive is MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Selenium Micronutrient Network. Affiliated tissues include heart, testes and brain, and related phenotypes are abnormality of metabolism/homeostasis and spinal dysraphism

UniProtKB/Swiss-Prot : 76 Neural tube defects, folate-sensitive: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.

Wikipedia : 77 Neurulation refers to the folding process in vertebrate embryos, which includes the transformation of... more...

Related Diseases for Neural Tube Defects, Folate-Sensitive

Diseases related to Neural Tube Defects, Folate-Sensitive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 33.9 MTHFD1 MTHFR MTR MTRR
2 anencephaly 32.1 MTHFD1 MTHFR MTR MTRR
3 cleft lip 30.0 MTHFR MTRR
4 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 29.8 MTHFR MTR
5 homocysteinemia 29.8 MTHFR MTR MTRR
6 vitamin b12 deficiency 29.8 MTHFR MTR
7 vascular disease 29.6 MTHFR MTR MTRR
8 homocystinuria 29.4 MTHFR MTR MTRR
9 neural tube defects, x-linked 12.6
10 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.4
11 encephalocele 11.7
12 mthfr gene variant 11.6
13 iniencephaly 11.5
14 craniorachischisis 11.4
15 chiari malformation 11.4
16 fryns microphthalmia syndrome 11.1
17 parietal foramina 11.1
18 hyperthermia induced defects 11.1
19 limb-body wall complex 11.1
20 meningoencephalocele 11.1
21 schisis association 11.1
22 down syndrome 10.6
23 hydrocephalus 10.4
24 chromosomal triplication 10.3
25 omphalocele 10.2
26 heart disease 10.2
27 upper thoracic spina bifida cystica 10.2 MTHFD1 MTHFR
28 cervicothoracic spina bifida cystica 10.2 MTHFD1 MTHFR
29 cervical spina bifida cystica 10.2 MTHFD1 MTHFR
30 lumbosacral spina bifida cystica 10.2 MTHFD1 MTHFR
31 myelomeningocele 10.2
32 epilepsy 10.2
33 hyperglycemia 10.2
34 influenza 10.2
35 waardenburg's syndrome 10.2
36 congenital hydrocephalus 10.2
37 exencephaly 10.2
38 thoracolumbosacral spina bifida cystica 10.2 MTHFD1 MTHFR
39 total spina bifida cystica 10.2 MTHFD1 MTHFR
40 upper thoracic spina bifida aperta 10.2 MTHFD1 MTHFR
41 thoracolumbosacral spina bifida aperta 10.2 MTHFD1 MTHFR
42 lumbosacral spina bifida aperta 10.2 MTHFD1 MTHFR
43 cervical spina bifida aperta 10.2 MTHFD1 MTHFR
44 cervicothoracic spina bifida aperta 10.2 MTHFD1 MTHFR
45 total spina bifida aperta 10.2 MTHFD1 MTHFR
46 schizophrenia 10.1
47 spondylocostal dysostosis 1, autosomal recessive 10.1
48 body mass index quantitative trait locus 1 10.1
49 lipomyelomeningocele 10.1
50 malaria 10.1

Graphical network of the top 20 diseases related to Neural Tube Defects, Folate-Sensitive:



Diseases related to Neural Tube Defects, Folate-Sensitive

Symptoms & Phenotypes for Neural Tube Defects, Folate-Sensitive

Human phenotypes related to Neural Tube Defects, Folate-Sensitive:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 spinal dysraphism 33 HP:0010301

Symptoms via clinical synopsis from OMIM:

58
Metabolic:
maternal abnormal homocysteine metabolism.

Lab:
thermolabile form of mthfr

Misc:
increased (7-fold) risk for ntd
folate-sensitive

Clinical features from OMIM:

601634

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

Search Clinical Trials , NIH Clinical Center for Neural Tube Defects, Folate-Sensitive

Genetic Tests for Neural Tube Defects, Folate-Sensitive

Genetic tests related to Neural Tube Defects, Folate-Sensitive:

# Genetic test Affiliating Genes
1 Neural Tube Defects, Folate-Sensitive 30 MTHFD1 MTHFR MTR MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

MalaCards organs/tissues related to Neural Tube Defects, Folate-Sensitive:

42
Heart, Testes, Brain, Spinal Cord, Placenta, Thyroid, Eye

Publications for Neural Tube Defects, Folate-Sensitive

Articles related to Neural Tube Defects, Folate-Sensitive:

(show top 50) (show all 2542)
# Title Authors Year
1
Predicting Down syndrome and neural tube defects using basic risk factors. ( 30877513 )
2019
2
Maternal anaesthesia in open and fetoscopic surgery of foetal open spinal neural tube defects: A retrospective cohort study. ( 30507621 )
2019
3
Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects: Three case reports and literature review. ( 30633186 )
2019
4
Nutritional status among women whose pregnancy outcome was afflicted with neural tube defects in Tigray region of Ethiopia. ( 30651190 )
2019
5
Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons. ( 30665459 )
2019
6
Variants identified in PTK7 associated with neural tube defects. ( 30689296 )
2019
7
Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth Defects Prevention Study. ( 30689919 )
2019
8
Short-term results of patients with neural tube defects followed-up in the Konya region, Turkey. ( 30708397 )
2019
9
TRIM4 is associated with neural tube defects based on genome-wide DNA methylation analysis. ( 30709423 )
2019
10
Association of maternal chronic arsenic exposure with the risk of neural tube defects in Northern China. ( 30807959 )
2019
11
The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects. ( 30828385 )
2019
12
Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects. ( 30848279 )
2019
13
Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway. ( 30867013 )
2019
14
Real Prevalence of Neural Tube Defects in Japan: How many of such pregnancies have been terminated? ( 30883906 )
2019
15
Evaluation of Neural Tube Defects (NTD) After Exposure to Raltegravir During Pregnancy. ( 30908331 )
2019
16
Regulation of the expression of tumor necrosis factora89related genes by abnormal histone H3K27 acetylation: Implications for neural tube defects. ( 29693124 )
2018
17
Magnitude of Neural Tube Defects and Associated Risk Factors at Three Teaching Hospitals in Addis Ababa, Ethiopia. ( 29713643 )
2018
18
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. ( 29358613 )
2018
19
A public health approach for preventing neural tube defects: folic acid fortification and beyond. ( 29450891 )
2018
20
Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects. ( 29365368 )
2018
21
Letter to the Editor. Family history of neural tube defects. ( 29303457 )
2018
22
Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice. ( 29725084 )
2018
23
Oxidative Stress and Apoptosis in Benzo[a]pyrene-Induced Neural Tube Defects. ( 29309894 )
2018
24
Correction to: Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29445915 )
2018
25
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29392422 )
2018
26
Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study. ( 29900595 )
2018
27
LRP2 gene variants and their haplotypes strongly influence the risk of developing neural tube defects in the fetus: a family-triad study from South India. ( 29728895 )
2018
28
Neurological outcomes by mode of delivery for fetuses with open neural tube defects: A systematic review and meta-analysis. ( 29924919 )
2018
29
Comments on "ambient and dosed exposure to quaternary ammonium disinfectants causes neural tube defects in rodents". ( 29388359 )
2018
30
Genetic contribution of retinoid-related genes to neural tube defects. ( 29297599 )
2018
31
Low carbohydrate diets may increase risk of neural tube defects. ( 29368448 )
2018
32
Neural Tube Defects in Embryonic Life: Lessons Learned From 340 Early Pregnancy Failures. ( 29665042 )
2018
33
Network correlation analysis revealed potential new mechanisms for neural tube defects beyond folic acid. ( 29732722 )
2018
34
Novel mutation in SP2 in a Chinese pedigree with Neural tube defects. ( 29855149 )
2018
35
Chornobyl, radiation, neural tube defects, and microcephaly. ( 29908351 )
2018
36
Maternal dietary nitrate intake and risk of neural tube defects: A systematic review and dose-response meta-analysis. ( 29763679 )
2018
37
Should vitamin B<sub>12</sub>status be considered in assessing risk of neural tube defects? ( 29377209 )
2018
38
Isolated Post-Shunt Metopic Synostosis and Neural Tube Defects. ( 29561489 )
2018
39
NMDA Receptor Signaling Is Important for Neural Tube Formation and for Preventing Antiepileptic Drug-Induced Neural Tube Defects. ( 29712790 )
2018
40
Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis. ( 29363759 )
2018
41
Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers. ( 29222906 )
2018
42
Formate rescues neural tube defects caused by mutations in <i>Slc25a32</i>. ( 29666258 )
2018
43
Public health failure in the prevention of neural tube defects: time to abandon the tolerable upper intake level of folate. ( 29450103 )
2018
44
Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects. ( 29352212 )
2018
45
Fetoscopic Two-Layers Closure of Open Neural Tube Defects. ( 29876992 )
2018
46
Folic acid and primary prevention of neural tube defects: A review. ( 29777755 )
2018
47
Comments on &amp;quot;Low carbohydrate diets may increase risk of neural tube defects&amp;quot;. ( 29797554 )
2018
48
Fortifying food with folic acid to prevent neural tube defects: are we now where we ought to be? ( 29868919 )
2018
49
Comments on &amp;quot;Low carbohydrate diets may increase risk of neural tube defects&amp;quot;. ( 29885048 )
2018
50
Modulation of nuclear factor-I_B signaling and reduction of neural tube defects by quercetin-3-glucoside in embryos of diabetic mice. ( 29733843 )
2018

Variations for Neural Tube Defects, Folate-Sensitive

UniProtKB/Swiss-Prot genetic disease variations for Neural Tube Defects, Folate-Sensitive:

76
# Symbol AA change Variation ID SNP ID
1 MTHFD1 p.Arg293His VAR_010241 rs34181110
2 MTHFD1 p.Arg653Gln VAR_010251 rs2236225

ClinVar genetic disease variations for Neural Tube Defects, Folate-Sensitive:

6 (show top 50) (show all 220)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTHFR NM_005957.4(MTHFR): c.1305C> T (p.Phe435=) single nucleotide variant Benign rs4846051 GRCh37 Chromosome 1, 11854457: 11854457
2 MTHFR NM_005957.4(MTHFR): c.1305C> T (p.Phe435=) single nucleotide variant Benign rs4846051 GRCh38 Chromosome 1, 11794400: 11794400
3 MTHFR NM_005957.4(MTHFR): c.1004G> A (p.Arg335His) single nucleotide variant Uncertain significance rs543016186 GRCh37 Chromosome 1, 11855182: 11855182
4 MTHFR NM_005957.4(MTHFR): c.1004G> A (p.Arg335His) single nucleotide variant Uncertain significance rs543016186 GRCh38 Chromosome 1, 11795125: 11795125
5 MTHFR NM_005957.4(MTHFR): c.1781G> A (p.Arg594Gln) single nucleotide variant Benign/Likely benign, other rs2274976 GRCh37 Chromosome 1, 11850927: 11850927
6 MTHFR NM_005957.4(MTHFR): c.1781G> A (p.Arg594Gln) single nucleotide variant Benign/Likely benign, other rs2274976 GRCh38 Chromosome 1, 11790870: 11790870
7 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh37 Chromosome 1, 11856378: 11856378
8 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh38 Chromosome 1, 11796321: 11796321
9 MTHFR NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1801131 GRCh37 Chromosome 1, 11854476: 11854476
10 MTHFR NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1801131 GRCh38 Chromosome 1, 11794419: 11794419
11 MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh37 Chromosome 5, 7870973: 7870973
12 MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh38 Chromosome 5, 7870860: 7870860
13 MTHFD1 NM_005956.4(MTHFD1): c.1958G> A (p.Arg653Gln) single nucleotide variant Benign rs2236225 GRCh37 Chromosome 14, 64908845: 64908845
14 MTHFD1 NM_005956.4(MTHFD1): c.1958G> A (p.Arg653Gln) single nucleotide variant Benign rs2236225 GRCh38 Chromosome 14, 64442127: 64442127
15 MTR NM_000254.2(MTR): c.2756A> G (p.Asp919Gly) single nucleotide variant Benign rs1805087 GRCh37 Chromosome 1, 237048500: 237048500
16 MTR NM_000254.2(MTR): c.2756A> G (p.Asp919Gly) single nucleotide variant Benign rs1805087 GRCh38 Chromosome 1, 236885200: 236885200
17 MTHFR NM_005957.4(MTHFR): c.*4900C> T single nucleotide variant Uncertain significance rs539181268 GRCh38 Chromosome 1, 11785780: 11785780
18 MTHFR NM_005957.4(MTHFR): c.*4900C> T single nucleotide variant Uncertain significance rs539181268 GRCh37 Chromosome 1, 11845837: 11845837
19 MTHFR NM_005957.4(MTHFR): c.*4791G> A single nucleotide variant Likely benign rs12023469 GRCh38 Chromosome 1, 11785889: 11785889
20 MTHFR NM_005957.4(MTHFR): c.*4791G> A single nucleotide variant Likely benign rs12023469 GRCh37 Chromosome 1, 11845946: 11845946
21 MTHFR NM_005957.4(MTHFR): c.*4679C> T single nucleotide variant Uncertain significance rs185982649 GRCh38 Chromosome 1, 11786001: 11786001
22 MTHFR NM_005957.4(MTHFR): c.*4679C> T single nucleotide variant Uncertain significance rs185982649 GRCh37 Chromosome 1, 11846058: 11846058
23 MTHFR NM_005957.4(MTHFR): c.*4506T> G single nucleotide variant Uncertain significance rs886045168 GRCh38 Chromosome 1, 11786174: 11786174
24 MTHFR NM_005957.4(MTHFR): c.*4506T> G single nucleotide variant Uncertain significance rs886045168 GRCh37 Chromosome 1, 11846231: 11846231
25 MTHFR NM_005957.4(MTHFR): c.*4505C> T single nucleotide variant Uncertain significance rs369609825 GRCh38 Chromosome 1, 11786175: 11786175
26 MTHFR NM_005957.4(MTHFR): c.*4505C> T single nucleotide variant Uncertain significance rs369609825 GRCh37 Chromosome 1, 11846232: 11846232
27 MTHFR NM_005957.4(MTHFR): c.*4168A> C single nucleotide variant Uncertain significance rs774295533 GRCh38 Chromosome 1, 11786512: 11786512
28 MTHFR NM_005957.4(MTHFR): c.*4168A> C single nucleotide variant Uncertain significance rs774295533 GRCh37 Chromosome 1, 11846569: 11846569
29 MTHFR NM_005957.4(MTHFR): c.*4041G> A single nucleotide variant Uncertain significance rs886045173 GRCh38 Chromosome 1, 11786639: 11786639
30 MTHFR NM_005957.4(MTHFR): c.*4041G> A single nucleotide variant Uncertain significance rs886045173 GRCh37 Chromosome 1, 11846696: 11846696
31 MTHFR NM_005957.4(MTHFR): c.*3963G> C single nucleotide variant Uncertain significance rs886045174 GRCh38 Chromosome 1, 11786717: 11786717
32 MTHFR NM_005957.4(MTHFR): c.*3963G> C single nucleotide variant Uncertain significance rs886045174 GRCh37 Chromosome 1, 11846774: 11846774
33 MTHFR NM_005957.4(MTHFR): c.*3158G> A single nucleotide variant Uncertain significance rs886045177 GRCh38 Chromosome 1, 11787522: 11787522
34 MTHFR NM_005957.4(MTHFR): c.*3158G> A single nucleotide variant Uncertain significance rs886045177 GRCh37 Chromosome 1, 11847579: 11847579
35 MTHFR NM_005957.4(MTHFR): c.*3088C> T single nucleotide variant Uncertain significance rs538074274 GRCh38 Chromosome 1, 11787592: 11787592
36 MTHFR NM_005957.4(MTHFR): c.*3088C> T single nucleotide variant Uncertain significance rs538074274 GRCh37 Chromosome 1, 11847649: 11847649
37 MTHFR NM_005957.4(MTHFR): c.*3046G> A single nucleotide variant Uncertain significance rs569629260 GRCh38 Chromosome 1, 11787634: 11787634
38 MTHFR NM_005957.4(MTHFR): c.*3046G> A single nucleotide variant Uncertain significance rs569629260 GRCh37 Chromosome 1, 11847691: 11847691
39 MTHFR NM_005957.4(MTHFR): c.*2965C> A single nucleotide variant Likely benign rs3820192 GRCh38 Chromosome 1, 11787715: 11787715
40 MTHFR NM_005957.4(MTHFR): c.*2965C> A single nucleotide variant Likely benign rs3820192 GRCh37 Chromosome 1, 11847772: 11847772
41 MTHFR NM_005957.4(MTHFR): c.*2835G> T single nucleotide variant Likely benign rs1537515 GRCh38 Chromosome 1, 11787845: 11787845
42 MTHFR NM_005957.4(MTHFR): c.*2835G> T single nucleotide variant Likely benign rs1537515 GRCh37 Chromosome 1, 11847902: 11847902
43 MTHFR NM_005957.4(MTHFR): c.*2805A> G single nucleotide variant Uncertain significance rs116698217 GRCh38 Chromosome 1, 11787875: 11787875
44 MTHFR NM_005957.4(MTHFR): c.*2805A> G single nucleotide variant Uncertain significance rs116698217 GRCh37 Chromosome 1, 11847932: 11847932
45 MTHFR NM_005957.4(MTHFR): c.*2653C> T single nucleotide variant Uncertain significance rs564466007 GRCh38 Chromosome 1, 11788027: 11788027
46 MTHFR NM_005957.4(MTHFR): c.*2653C> T single nucleotide variant Uncertain significance rs564466007 GRCh37 Chromosome 1, 11848084: 11848084
47 MTHFR NM_005957.4(MTHFR): c.*2598C> T single nucleotide variant Likely benign rs11559040 GRCh38 Chromosome 1, 11788082: 11788082
48 MTHFR NM_005957.4(MTHFR): c.*2598C> T single nucleotide variant Likely benign rs11559040 GRCh37 Chromosome 1, 11848139: 11848139
49 MTHFR NM_005957.4(MTHFR): c.*2553G> A single nucleotide variant Uncertain significance rs539472116 GRCh38 Chromosome 1, 11788127: 11788127
50 MTHFR NM_005957.4(MTHFR): c.*2553G> A single nucleotide variant Uncertain significance rs539472116 GRCh37 Chromosome 1, 11848184: 11848184

Expression for Neural Tube Defects, Folate-Sensitive

Search GEO for disease gene expression data for Neural Tube Defects, Folate-Sensitive.

Pathways for Neural Tube Defects, Folate-Sensitive

Pathways related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 MTHFD1 MTHFR MTR MTRR
2
Show member pathways
11.59 MTHFD1 MTHFR MTR MTRR
3
Show member pathways
11.46 MTR MTRR
4
Show member pathways
11.29 MTR MTRR
5
Show member pathways
11.07 MTHFD1 MTHFR MTR MTRR
6 10.58 MTR MTRR

GO Terms for Neural Tube Defects, Folate-Sensitive

Biological processes related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neural tube closure GO:0001843 9.46 MTHFD1 MTHFR
2 one-carbon metabolic process GO:0006730 9.43 MTHFD1 MTHFR
3 cellular amino acid biosynthetic process GO:0008652 9.43 MTHFD1 MTR MTRR
4 cobalamin metabolic process GO:0009235 9.4 MTR MTRR
5 tetrahydrofolate interconversion GO:0035999 9.37 MTHFD1 MTHFR
6 folic acid metabolic process GO:0046655 9.33 MTHFD1 MTHFR MTRR
7 homocysteine metabolic process GO:0050667 9.32 MTHFR MTRR
8 methionine metabolic process GO:0006555 9.13 MTHFD1 MTHFR MTRR
9 methionine biosynthetic process GO:0009086 8.92 MTHFD1 MTHFR MTR MTRR

Molecular functions related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 MTHFD1 MTHFR MTRR
2 flavin adenine dinucleotide binding GO:0050660 9.16 MTHFR MTRR
3 NADP binding GO:0050661 8.96 MTHFR MTRR
4 FAD binding GO:0071949 8.62 MTHFR MTRR

Sources for Neural Tube Defects, Folate-Sensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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