MCID: NRL018
MIFTS: 44

Neural Tube Defects, Folate-Sensitive

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 57 75 29 6 40
Neural Tube Defects, Folate-Sensitive, Susceptibility to 57 13 6
Neural Tube Defect, Folate-Sensitive 76 73
Ntdfs 57 75
Neural Tube Defects, Susceptibility to 57
Ntd, Folate-Sensitive 57
Neural Tube Defects 57

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive


Classifications:



External Ids:

OMIM 57 601634
SNOMED-CT via HPO 69 253098009
UMLS 73 C1866558

Summaries for Neural Tube Defects, Folate-Sensitive

OMIM : 57 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 upper thoracic spina bifida cystica. 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 Folate Metabolism. Affiliated tissues include heart, placenta and brain, and related phenotypes are abnormality of metabolism/homeostasis and spinal dysraphism

UniProtKB/Swiss-Prot : 75 Neural tube defects, folate-sensitive: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.

Wikipedia : 76 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 all 37)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 30.7 MTHFD1 MTHFR MTR MTRR
2 upper thoracic spina bifida cystica 10.4 MTHFD1 MTHFR
3 cervicothoracic spina bifida cystica 10.4 MTHFD1 MTHFR
4 cervical spina bifida cystica 10.4 MTHFD1 MTHFR
5 lumbosacral spina bifida cystica 10.4 MTHFD1 MTHFR
6 thoracolumbosacral spina bifida cystica 10.4 MTHFD1 MTHFR
7 total spina bifida cystica 10.4 MTHFD1 MTHFR
8 upper thoracic spina bifida aperta 10.4 MTHFD1 MTHFR
9 thoracolumbosacral spina bifida aperta 10.4 MTHFD1 MTHFR
10 lumbosacral spina bifida aperta 10.4 MTHFD1 MTHFR
11 cervical spina bifida aperta 10.4 MTHFD1 MTHFR
12 cervicothoracic spina bifida aperta 10.3 MTHFD1 MTHFR
13 total spina bifida aperta 10.3 MTHFD1 MTHFR
14 nondisjunction 10.2 MTHFR MTRR
15 placental abruption 10.2 MTHFD1 MTHFR
16 acute lymphoblastic leukemia, childhood 10.2 MTHFD1 MTHFR
17 myelomeningocele 10.1 MTHFD1 MTHFR
18 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.1 MTHFR MTR
19 vitamin metabolic disorder 10.1 MTHFR MTR
20 methylmalonic aciduria and homocystinuria type cble 10.1 MTR MTRR
21 methylmalonic aciduria and homocystinuria type cblg 10.1 MTR MTRR
22 vitamin b12 deficiency 10.0 MTHFR MTR
23 amino acid metabolic disorder 10.0 MTHFR MTR
24 methylmalonic aciduria and homocystinuria, cblc type 10.0 MTHFD1 MTR
25 placental choriocarcinoma 10.0 MTHFD1 MTR
26 methylmalonic aciduria, cblb type 9.9 MTHFR MTR
27 cleft lip/palate 9.9 MTHFR MTRR
28 colorectal adenoma 9.8 MTHFR MTR
29 cerebrovascular disease 9.6 MTHFR MTR
30 transcobalamin ii deficiency 9.6 MTHFR MTR MTRR
31 homocysteinemia 9.6 MTHFR MTR MTRR
32 homocystinuria 9.6 MTHFR MTR MTRR
33 cleft lip 9.5 MTHFR MTRR
34 disorders of intracellular cobalamin metabolism 9.5 FASTKD3 MTR MTRR
35 vascular disease 9.4 MTHFR MTR MTRR
36 anencephaly 9.1 MTHFD1 MTHFR MTR MTRR
37 megaloblastic anemia 9.1 MTHFD1 MTHFR MTR MTRR

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

Symptoms via clinical synopsis from OMIM:

57
Metabolic:
maternal abnormal homocysteine metabolism.

Lab:
thermolabile form of mthfr

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


Clinical features from OMIM:

601634

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

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 spinal dysraphism 32 HP:0010301

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 29 MTHFD1 MTHFR MTR MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

41
Heart, Placenta, Brain, Testes, Spinal Cord, Bone Marrow, Monocytes

Publications for Neural Tube Defects, Folate-Sensitive

Articles related to Neural Tube Defects, Folate-Sensitive:

(show top 50) (show all 958)
# Title Authors Year
1
Regulation of the expression of tumor necrosis factora89related genes by abnormal histone H3K27 acetylation: Implications for neural tube defects. ( 29693124 )
2018
2
Magnitude of Neural Tube Defects and Associated Risk Factors at Three Teaching Hospitals in Addis Ababa, Ethiopia. ( 29713643 )
2018
3
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. ( 29358613 )
2018
4
A public health approach for preventing neural tube defects: folic acid fortification and beyond. ( 29450891 )
2018
5
Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects. ( 29365368 )
2018
6
Letter to the Editor. Family history of neural tube defects. ( 29303457 )
2018
7
Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice. ( 29725084 )
2018
8
Oxidative Stress and Apoptosis in Benzo[a]pyrene-Induced Neural Tube Defects. ( 29309894 )
2018
9
Correction to: Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29445915 )
2018
10
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29392422 )
2018
11
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
12
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
13
Neurological outcomes by mode of delivery for fetuses with open neural tube defects: A systematic review and meta-analysis. ( 29924919 )
2018
14
Comments on "ambient and dosed exposure to quaternary ammonium disinfectants causes neural tube defects in rodents". ( 29388359 )
2018
15
Genetic contribution of retinoid-related genes to neural tube defects. ( 29297599 )
2018
16
Low carbohydrate diets may increase risk of neural tube defects. ( 29368448 )
2018
17
Neural Tube Defects in Embryonic Life: Lessons Learned From 340 Early Pregnancy Failures. ( 29665042 )
2018
18
Network correlation analysis revealed potential new mechanisms for neural tube defects beyond folic acid. ( 29732722 )
2018
19
Novel mutation in SP2 in a Chinese pedigree with Neural tube defects. ( 29855149 )
2018
20
Chornobyl, radiation, neural tube defects, and microcephaly. ( 29908351 )
2018
21
Maternal dietary nitrate intake and risk of neural tube defects: A systematic review and dose-response meta-analysis. ( 29763679 )
2018
22
Should vitamin B<sub>12</sub>status be considered in assessing risk of neural tube defects? ( 29377209 )
2018
23
Isolated Post-Shunt Metopic Synostosis and Neural Tube Defects. ( 29561489 )
2018
24
NMDA Receptor Signaling Is Important for Neural Tube Formation and for Preventing Antiepileptic Drug-Induced Neural Tube Defects. ( 29712790 )
2018
25
Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis. ( 29363759 )
2018
26
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
27
Formate rescues neural tube defects caused by mutations in <i>Slc25a32</i>. ( 29666258 )
2018
28
Public health failure in the prevention of neural tube defects: time to abandon the tolerable upper intake level of folate. ( 29450103 )
2018
29
Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects. ( 29352212 )
2018
30
Fetoscopic Two-Layers Closure of Open Neural Tube Defects. ( 29876992 )
2018
31
Folic acid and primary prevention of neural tube defects: A review. ( 29777755 )
2018
32
Fortifying food with folic acid to prevent neural tube defects: are we now where we ought to be? ( 29868919 )
2018
33
Modulation of nuclear factor-I_B signaling and reduction of neural tube defects by quercetin-3-glucoside in embryos of diabetic mice. ( 29733843 )
2018
34
Highlighting recognition, management, and treatment of neural tube defects at various stages of development. ( 28265328 )
2017
35
Spinal Arteriovenous Vascular Malformations in Patients with Neural Tube Defects. ( 29284599 )
2017
36
A single center study of epidemiology of neural tube defects. ( 28149108 )
2017
37
Papers from the Ninth International Conference on Neural Tube Defects. ( 28398651 )
2017
38
Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway. ( 28770393 )
2017
39
Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation. ( 28862178 )
2017
40
Neural Tube Defects: Risk Factors and Preventive Measures. ( 28425110 )
2017
41
Proposal for supplemental intake of folic acid to reduce the risk of neural tube defects. ( 28266124 )
2017
42
Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches. ( 28411382 )
2017
43
Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. ( 28944587 )
2017
44
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. ( 29205322 )
2017
45
Novel approach to supine positioning for infants with spinal neural tube defects. ( 28101975 )
2017
46
A pilot study on the association between rare earth elements in maternal hair and the risk of neural tube defects in north China. ( 28411498 )
2017
47
A parental perspective concerning barriers to care for neural tube defects in China. ( 28904822 )
2017
48
Relationship between maternal blood ceruloplasmin level, catalase and myeloperoxidase activity and neural tube defects. ( 28397206 )
2017
49
Surveillance survey of family history in children with neural tube defects. ( 28362184 )
2017
50
Apoptosis, Expression of PAX3 and P53, and Caspase Signal in Fetuses with Neural Tube Defects. ( 28786179 )
2017

Variations for Neural Tube Defects, Folate-Sensitive

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

75
# 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 217)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh37 Chromosome 1, 11856378: 11856378
2 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh38 Chromosome 1, 11796321: 11796321
3 MTHFR NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala) single nucleotide variant drug response rs1801131 GRCh37 Chromosome 1, 11854476: 11854476
4 MTHFR NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala) single nucleotide variant drug response rs1801131 GRCh38 Chromosome 1, 11794419: 11794419
5 FASTKD3; MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh37 Chromosome 5, 7870973: 7870973
6 FASTKD3; MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh38 Chromosome 5, 7870860: 7870860
7 MTR MTR, 2756A-G single nucleotide variant risk factor
8 MTHFR NM_005957.4(MTHFR): c.1305C> T (p.Phe435=) single nucleotide variant Benign rs4846051 GRCh37 Chromosome 1, 11854457: 11854457
9 MTHFR NM_005957.4(MTHFR): c.1305C> T (p.Phe435=) single nucleotide variant Benign rs4846051 GRCh38 Chromosome 1, 11794400: 11794400
10 MTHFR NM_005957.4(MTHFR): c.1004G> A (p.Arg335His) single nucleotide variant Uncertain significance rs543016186 GRCh37 Chromosome 1, 11855182: 11855182
11 MTHFR NM_005957.4(MTHFR): c.1004G> A (p.Arg335His) single nucleotide variant Uncertain significance rs543016186 GRCh38 Chromosome 1, 11795125: 11795125
12 MTHFR NM_005957.4(MTHFR): c.1781G> A (p.Arg594Gln) single nucleotide variant Benign/Likely benign, other rs2274976 GRCh37 Chromosome 1, 11850927: 11850927
13 MTHFR NM_005957.4(MTHFR): c.1781G> A (p.Arg594Gln) single nucleotide variant Benign/Likely benign, other rs2274976 GRCh38 Chromosome 1, 11790870: 11790870
14 MTHFR NM_005957.4(MTHFR): c.*4900C> T single nucleotide variant Uncertain significance rs539181268 GRCh38 Chromosome 1, 11785780: 11785780
15 MTHFR NM_005957.4(MTHFR): c.*4900C> T single nucleotide variant Uncertain significance rs539181268 GRCh37 Chromosome 1, 11845837: 11845837
16 MTHFR NM_005957.4(MTHFR): c.*4791G> A single nucleotide variant Likely benign rs12023469 GRCh38 Chromosome 1, 11785889: 11785889
17 MTHFR NM_005957.4(MTHFR): c.*4791G> A single nucleotide variant Likely benign rs12023469 GRCh37 Chromosome 1, 11845946: 11845946
18 MTHFR NM_005957.4(MTHFR): c.*4679C> T single nucleotide variant Uncertain significance rs185982649 GRCh38 Chromosome 1, 11786001: 11786001
19 MTHFR NM_005957.4(MTHFR): c.*4679C> T single nucleotide variant Uncertain significance rs185982649 GRCh37 Chromosome 1, 11846058: 11846058
20 MTHFR NM_005957.4(MTHFR): c.*4506T> G single nucleotide variant Uncertain significance rs886045168 GRCh38 Chromosome 1, 11786174: 11786174
21 MTHFR NM_005957.4(MTHFR): c.*4506T> G single nucleotide variant Uncertain significance rs886045168 GRCh37 Chromosome 1, 11846231: 11846231
22 MTHFR NM_005957.4(MTHFR): c.*4505C> T single nucleotide variant Uncertain significance rs369609825 GRCh38 Chromosome 1, 11786175: 11786175
23 MTHFR NM_005957.4(MTHFR): c.*4505C> T single nucleotide variant Uncertain significance rs369609825 GRCh37 Chromosome 1, 11846232: 11846232
24 MTHFR NM_005957.4(MTHFR): c.*4168A> C single nucleotide variant Uncertain significance rs774295533 GRCh38 Chromosome 1, 11786512: 11786512
25 MTHFR NM_005957.4(MTHFR): c.*4168A> C single nucleotide variant Uncertain significance rs774295533 GRCh37 Chromosome 1, 11846569: 11846569
26 MTHFR NM_005957.4(MTHFR): c.*4041G> A single nucleotide variant Uncertain significance rs886045173 GRCh38 Chromosome 1, 11786639: 11786639
27 MTHFR NM_005957.4(MTHFR): c.*4041G> A single nucleotide variant Uncertain significance rs886045173 GRCh37 Chromosome 1, 11846696: 11846696
28 MTHFR NM_005957.4(MTHFR): c.*3963G> C single nucleotide variant Uncertain significance rs886045174 GRCh38 Chromosome 1, 11786717: 11786717
29 MTHFR NM_005957.4(MTHFR): c.*3963G> C single nucleotide variant Uncertain significance rs886045174 GRCh37 Chromosome 1, 11846774: 11846774
30 MTHFR NM_005957.4(MTHFR): c.*3158G> A single nucleotide variant Uncertain significance rs886045177 GRCh37 Chromosome 1, 11847579: 11847579
31 MTHFR NM_005957.4(MTHFR): c.*3158G> A single nucleotide variant Uncertain significance rs886045177 GRCh38 Chromosome 1, 11787522: 11787522
32 MTHFR NM_005957.4(MTHFR): c.*3088C> T single nucleotide variant Uncertain significance rs538074274 GRCh37 Chromosome 1, 11847649: 11847649
33 MTHFR NM_005957.4(MTHFR): c.*3088C> T single nucleotide variant Uncertain significance rs538074274 GRCh38 Chromosome 1, 11787592: 11787592
34 MTHFR NM_005957.4(MTHFR): c.*3046G> A single nucleotide variant Uncertain significance rs569629260 GRCh37 Chromosome 1, 11847691: 11847691
35 MTHFR NM_005957.4(MTHFR): c.*3046G> A single nucleotide variant Uncertain significance rs569629260 GRCh38 Chromosome 1, 11787634: 11787634
36 MTHFR NM_005957.4(MTHFR): c.*2965C> A single nucleotide variant Likely benign rs3820192 GRCh37 Chromosome 1, 11847772: 11847772
37 MTHFR NM_005957.4(MTHFR): c.*2965C> A single nucleotide variant Likely benign rs3820192 GRCh38 Chromosome 1, 11787715: 11787715
38 MTHFR NM_005957.4(MTHFR): c.*2835G> T single nucleotide variant Likely benign rs1537515 GRCh37 Chromosome 1, 11847902: 11847902
39 MTHFR NM_005957.4(MTHFR): c.*2835G> T single nucleotide variant Likely benign rs1537515 GRCh38 Chromosome 1, 11787845: 11787845
40 MTHFR NM_005957.4(MTHFR): c.*2805A> G single nucleotide variant Uncertain significance rs116698217 GRCh37 Chromosome 1, 11847932: 11847932
41 MTHFR NM_005957.4(MTHFR): c.*2805A> G single nucleotide variant Uncertain significance rs116698217 GRCh38 Chromosome 1, 11787875: 11787875
42 MTHFR NM_005957.4(MTHFR): c.*2653C> T single nucleotide variant Uncertain significance rs564466007 GRCh37 Chromosome 1, 11848084: 11848084
43 MTHFR NM_005957.4(MTHFR): c.*2653C> T single nucleotide variant Uncertain significance rs564466007 GRCh38 Chromosome 1, 11788027: 11788027
44 MTHFR NM_005957.4(MTHFR): c.*2598C> T single nucleotide variant Likely benign rs11559040 GRCh37 Chromosome 1, 11848139: 11848139
45 MTHFR NM_005957.4(MTHFR): c.*2598C> T single nucleotide variant Likely benign rs11559040 GRCh38 Chromosome 1, 11788082: 11788082
46 MTHFR NM_005957.4(MTHFR): c.*2553G> A single nucleotide variant Uncertain significance rs539472116 GRCh38 Chromosome 1, 11788127: 11788127
47 MTHFR NM_005957.4(MTHFR): c.*2553G> A single nucleotide variant Uncertain significance rs539472116 GRCh37 Chromosome 1, 11848184: 11848184
48 MTHFR NM_005957.4(MTHFR): c.*2222C> T single nucleotide variant Uncertain significance rs886045181 GRCh38 Chromosome 1, 11788458: 11788458
49 MTHFR NM_005957.4(MTHFR): c.*2222C> T single nucleotide variant Uncertain significance rs886045181 GRCh37 Chromosome 1, 11848515: 11848515
50 MTHFR NM_005957.4(MTHFR): c.*1285T> G single nucleotide variant Uncertain significance rs886045185 GRCh38 Chromosome 1, 11789395: 11789395

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
12.16 MTHFD1 MTHFR MTR MTRR
2
Show member pathways
11.59 MTHFD1 MTHFR MTR MTRR
3
Show member pathways
11.49 MTR MTRR
4
Show member pathways
11.34 MTR MTRR
5
Show member pathways
11.07 MTHFD1 MTHFR MTR MTRR
6 10.64 MTR MTRR
7
Show member pathways
9.76 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 one-carbon metabolic process GO:0006730 9.46 MTHFD1 MTHFR
2 cobalamin metabolic process GO:0009235 9.43 MTR MTRR
3 cellular amino acid biosynthetic process GO:0008652 9.43 MTHFD1 MTR MTRR
4 tetrahydrofolate interconversion GO:0035999 9.4 MTHFD1 MTHFR
5 sulfur amino acid metabolic process GO:0000096 9.37 MTR MTRR
6 folic acid metabolic process GO:0046655 9.33 MTHFD1 MTHFR MTRR
7 homocysteine metabolic process GO:0050667 9.32 MTHFR MTRR
8 methionine biosynthetic process GO:0009086 9.13 MTHFD1 MTR MTRR
9 methionine metabolic process GO:0006555 8.8 MTHFD1 MTHFR 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 9.33 MTHFD1 MTHFR MTRR
2 flavin adenine dinucleotide binding GO:0050660 8.96 MTHFR MTRR
3 NADP binding GO:0050661 8.62 MTHFR MTRR

Sources for Neural Tube Defects, Folate-Sensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....