Disease table of NEURAL TUBE DEFECTS, FOLATE-SENSITIVE OMIM ID: 601634

Gene-disease associations table

GeneAssociated with NEURAL TUBE DEFECTS, FOLATE-SENSITIVE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MTHFROMIMHGNC link1p36.225181500, PS188050, 606764, 236250, 601634
MTROMIMHGNC link1q433601634, 250940, 606764
MTHFD1OMIM, HUMSAVARHGNC link14q23.31601634
MTRROMIMHGNC link5p15.313601634, 236270, 606764

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
12MTR, MTHFR
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
MTHFRYES1NFE2L20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MTRMTHFD1No2NTRK1, UBC
MTRMTRRNo1ELAVL1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
MTRMTHFD1No-1UBC
MTRMTRRYesbinding0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.493MTR, MTHFD1, MTHFR
One carbon pool by folatehsa006708.523MTR, MTHFD1, MTHFR

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism of cofactors and vitaminsNEW5.160.007MTR, MTHFD1, MTHFR
One carbon pool by folate (hsa00670) -8.520.0MTR, MTHFD1, MTHFR
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of vitamins and cofactorsR-HSA-1968546.544MTR, MTRR, MTHFD1, MTHFR
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.544MTR, MTRR, MTHFD1, MTHFR
MetabolismR-HSA-14307282.344MTR, MTRR, MTHFD1, MTHFR
Metabolism of folate and pterinesR-HSA-1967579.812MTHFD1, MTHFR
Biological oxidationsR-HSA-2118595.552MTR, MTRR
Metabolism of amino acids and derivativesR-HSA-712915.42MTR, MTRR
Sulfur amino acid metabolismR-HSA-16146358.462MTR, MTRR
MethylationR-HSA-1565819.662MTR, MTRR
Phase II conjugationR-HSA-1565806.522MTR, MTRR
Diseases of metabolismR-HSA-56689146.572MTR, MTRR
Defects in cobalamin (B12) metabolismR-HSA-32964699.282MTR, MTRR
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblER-HSA-335946711.982MTR, MTRR
Defective MTR causes methylmalonic aciduria and homocystinuria type cblGR-HSA-335946911.982MTR, MTRR
Defects in vitamin and cofactor metabolismR-HSA-32964828.522MTR, MTRR
Cobalamin (Cbl, vitamin B12) transport and metabolismR-HSA-1967418.732MTR, MTRR
DiseaseR-HSA-16436853.332MTR, MTRR

NET-GE enrichment

Term New enriched termICP valueGenes
Defects in vitamin and cofactor metabolism (R-HSA-3296482) -8.520.001MTR, MTRR
Metabolism of folate and pterines (R-HSA-196757) -9.810.0MTHFD1, MTHFR
Biological oxidations (R-HSA-211859) -5.550.045MTR, MTRR
Metabolism of vitamins and cofactors (R-HSA-196854) -6.540.0MTR, MTRR, MTHFD1, MTHFR
Sulfur amino acid metabolism (R-HSA-1614635) -8.460.001MTR, MTRR
Methylation (R-HSA-156581) -9.660.0MTR, MTRR
Phase II conjugation (R-HSA-156580) -6.520.024MTR, MTRR
Diseases of metabolism (R-HSA-5668914) -6.570.011MTR, MTRR
Defects in cobalamin (B12) metabolism (R-HSA-3296469) -9.280.001MTR, MTRR
Metabolism (R-HSA-1430728) -2.340.026MTR, MTRR, MTHFD1, MTHFR
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE (R-HSA-3359467) -11.980.0MTR, MTRR
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG (R-HSA-3359469) -11.980.0MTR, MTRR
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849) -6.540.0MTR, MTRR, MTHFD1, MTHFR
Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741) -8.730.001MTR, MTRR
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organic cyclic compound binding (GO:0097159) 1.054MTR, MTRR, MTHFD1, MTHFR
small molecule binding (GO:0036094) 1.894MTR, MTRR, MTHFD1, MTHFR
catalytic activity (GO:0003824) 1.054MTR, MTRR, MTHFD1, MTHFR
binding (GO:0005488) 0.184MTR, MTRR, MTHFD1, MTHFR
protein binding (GO:0005515) 0.464MTR, MTRR, MTHFD1, MTHFR
heterocyclic compound binding (GO:1901363) 1.064MTR, MTRR, MTHFD1, MTHFR
nucleotide binding (GO:0000166) 1.963MTHFD1, MTRR, MTHFR
nucleoside phosphate binding (GO:1901265) 1.963MTHFD1, MTRR, MTHFR
oxidoreductase activity (GO:0016491) 3.123MTHFD1, MTRR, MTHFR
coenzyme binding (GO:0050662) 4.532MTRR, MTHFR
NADP binding (GO:0050661) 5.932MTRR, MTHFR
flavin adenine dinucleotide binding (GO:0050660) 5.412MTRR, MTHFR
carbohydrate derivative binding (GO:0097367) 2.032MTHFD1, MTRR
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor (GO:0016646) 6.792MTHFD1, MTHFR
oxidoreductase activity, acting on the CH-NH group of donors (GO:0016645) 6.412MTHFD1, MTHFR
cofactor binding (GO:0048037) 4.162MTRR, MTHFR
ribonucleotide binding (GO:0032553) 2.192MTHFD1, MTRR

NET-GE enrichment

Term New enriched termICP valueGenes
NADP binding (GO:0050661) -5.930.011MTRR, MTHFR
flavin adenine dinucleotide binding (GO:0050660) -5.410.03MTRR, MTHFR
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor (GO:0016646) -6.790.002MTHFD1, MTHFR
oxidoreductase activity, acting on the CH-NH group of donors (GO:0016645) -6.410.004MTHFD1, MTHFR
small molecule binding (GO:0036094) -1.890.048MTR, MTRR, MTHFD1, MTHFR
oxidoreductase activity (GO:0016491) -3.120.024MTHFD1, MTRR, MTHFR
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
carboxylic acid metabolic process (GO:0019752) 3.124MTR, MTRR, MTHFD1, MTHFR
nitrogen compound metabolic process (GO:0006807) 1.134MTR, MTRR, MTHFD1, MTHFR
aspartate family amino acid metabolic process (GO:0009066) 5.724MTR, MTRR, MTHFD1, MTHFR
single-organism process (GO:0044699) 0.484MTR, MTRR, MTHFD1, MTHFR
single-organism metabolic process (GO:0044710) 1.634MTR, MTRR, MTHFD1, MTHFR
cellular amino acid metabolic process (GO:0006520) 4.224MTR, MTRR, MTHFD1, MTHFR
pteridine-containing compound metabolic process (GO:0042558) 6.174MTR, MTRR, MTHFD1, MTHFR
organic substance metabolic process (GO:0071704) 0.634MTR, MTRR, MTHFD1, MTHFR
organic cyclic compound metabolic process (GO:1901360) 1.264MTR, MTRR, MTHFD1, MTHFR
alpha-amino acid metabolic process (GO:1901605) 4.54MTR, MTRR, MTHFD1, MTHFR
water-soluble vitamin metabolic process (GO:0006767) 5.294MTR, MTRR, MTHFD1, MTHFR
vitamin metabolic process (GO:0006766) 4.974MTR, MTRR, MTHFD1, MTHFR
sulfur amino acid metabolic process (GO:0000096) 6.474MTR, MTRR, MTHFD1, MTHFR
cellular aromatic compound metabolic process (GO:0006725) 1.34MTR, MTRR, MTHFD1, MTHFR
single-organism cellular process (GO:0044763) 0.654MTR, MTRR, MTHFD1, MTHFR
metabolic process (GO:0008152) 0.584MTR, MTRR, MTHFD1, MTHFR
oxoacid metabolic process (GO:0043436) 3.124MTR, MTRR, MTHFD1, MTHFR
heterocycle metabolic process (GO:0046483) 1.314MTR, MTRR, MTHFD1, MTHFR
primary metabolic process (GO:0044238) 0.694MTR, MTRR, MTHFD1, MTHFR
organonitrogen compound metabolic process (GO:1901564) 2.324MTR, MTRR, MTHFD1, MTHFR
organic acid metabolic process (GO:0006082) 3.014MTR, MTRR, MTHFD1, MTHFR
methionine metabolic process (GO:0006555) 6.844MTR, MTRR, MTHFD1, MTHFR
cellular metabolic process (GO:0044237) 0.694MTR, MTRR, MTHFD1, MTHFR
sulfur compound metabolic process (GO:0006790) 3.874MTR, MTRR, MTHFD1, MTHFR
cellular process (GO:0009987) 0.264MTR, MTRR, MTHFD1, MTHFR
small molecule metabolic process (GO:0044281) 2.384MTR, MTRR, MTHFD1, MTHFR
coenzyme metabolic process (GO:0006732) 4.143MTHFD1, MTRR, MTHFR
cellular biosynthetic process (GO:0044249) 1.373MTR, MTHFD1, MTRR
cellular nitrogen compound metabolic process (GO:0034641) 1.223MTHFD1, MTRR, MTHFR
aspartate family amino acid biosynthetic process (GO:0009067) 6.593MTR, MTHFD1, MTRR
small molecule biosynthetic process (GO:0044283) 3.793MTR, MTHFD1, MTRR
folic acid metabolic process (GO:0046655) 6.93MTHFD1, MTRR, MTHFR
organic substance biosynthetic process (GO:1901576) 1.343MTR, MTHFD1, MTRR
single-organism biosynthetic process (GO:0044711) 2.83MTR, MTHFD1, MTRR
homocysteine metabolic process (GO:0050667) 7.333MTHFD1, MTRR, MTHFR
biological regulation (GO:0065007) 0.393MTHFD1, MTRR, MTHFR
alpha-amino acid biosynthetic process (GO:1901607) 5.513MTR, MTHFD1, MTRR
folic acid-containing compound metabolic process (GO:0006760) 6.43MTHFD1, MTRR, MTHFR
biosynthetic process (GO:0009058) 1.323MTR, MTHFD1, MTRR
cofactor metabolic process (GO:0051186) 3.913MTHFD1, MTRR, MTHFR
oxidation-reduction process (GO:0055114) 2.913MTHFD1, MTRR, MTHFR
cellular amino acid biosynthetic process (GO:0008652) 5.493MTR, MTHFD1, MTRR
cellular modified amino acid metabolic process (GO:0006575) 4.693MTHFD1, MTRR, MTHFR
organonitrogen compound biosynthetic process (GO:1901566) 2.853MTR, MTHFD1, MTRR
carboxylic acid biosynthetic process (GO:0046394) 4.323MTR, MTHFD1, MTRR
organic acid biosynthetic process (GO:0016053) 4.263MTR, MTHFD1, MTRR
cellular amide metabolic process (GO:0043603) 3.233MTHFD1, MTRR, MTHFR
methionine biosynthetic process (GO:0009086) 7.093MTR, MTHFD1, MTRR
developmental process (GO:0032502) 1.362MTR, MTHFD1
nucleobase-containing compound metabolic process (GO:0006139) 1.352MTHFD1, MTRR
cobalamin metabolic process (GO:0009235) 6.682MTR, MTRR
response to oxygen-containing compound (GO:1901700) 2.572MTR, MTHFR
one-carbon metabolic process (GO:0006730) 6.152MTHFD1, MTHFR
response to stimulus (GO:0050896) 1.222MTR, MTHFR
response to nitrogen compound (GO:1901698) 3.122MTR, MTHFR
anatomical structure development (GO:0048856) 1.582MTR, MTHFD1
tetrahydrofolate interconversion (GO:0035999) 7.332MTHFD1, MTHFR
cellular component organization (GO:0016043) 1.242MTR, MTHFR
single-organism developmental process (GO:0044767) 1.492MTR, MTHFD1
response to stress (GO:0006950) 1.82MTR, MTHFR
tetrapyrrole metabolic process (GO:0033013) 5.652MTR, MTRR
nucleobase-containing small molecule metabolic process (GO:0055086) 3.592MTHFD1, MTRR
tetrahydrofolate metabolic process (GO:0046653) 6.732MTHFD1, MTHFR
response to chemical (GO:0042221) 1.982MTR, MTHFR
purine-containing compound metabolic process (GO:0072521) 4.02MTHFD1, MTRR
serine family amino acid metabolic process (GO:0009069) 6.022MTHFD1, MTRR
methylation (GO:0032259) 4.062MTR, MTRR
S-adenosylmethionine metabolic process (GO:0046500) 6.842MTRR, MTHFR
cellular component organization or biogenesis (GO:0071840) 1.222MTR, MTHFR

NET-GE enrichment

Term New enriched termICP valueGenes
coenzyme metabolic process (GO:0006732) -4.140.001MTHFD1, MTRR, MTHFR
one-carbon metabolic process (GO:0006730) -6.150.003MTHFD1, MTHFR
cobalamin metabolic process (GO:0009235) -6.680.001MTR, MTRR
carboxylic acid metabolic process (GO:0019752) -3.120.001MTR, MTRR, MTHFD1, MTHFR
aspartate family amino acid biosynthetic process (GO:0009067) -6.590.0MTR, MTRR, MTHFD1, MTHFR
aspartate family amino acid metabolic process (GO:0009066) -5.720.0MTR, MTRR, MTHFD1, MTHFR
small molecule biosynthetic process (GO:0044283) -3.790.003MTR, MTRR, MTHFD1, MTHFR
tetrahydrofolate metabolic process (GO:0046653) -6.730.001MTHFD1, MTHFR
folic acid metabolic process (GO:0046655) -6.90.0MTHFD1, MTRR, MTHFR
cofactor metabolic process (GO:0051186) -3.910.028MTHFD1, MTRR, MTHFR
cellular amino acid metabolic process (GO:0006520) -4.220.002MTR, MTRR, MTHFD1, MTHFR
tetrahydrofolate interconversion (GO:0035999) -7.330.001MTHFD1, MTHFR
pteridine-containing compound metabolic process (GO:0042558) -6.170.0MTR, MTRR, MTHFD1, MTHFR
tetrapyrrole metabolic process (GO:0033013) -5.650.01MTR, MTRR
organic acid metabolic process (GO:0006082) -3.010.001MTR, MTRR, MTHFD1, MTHFR
alpha-amino acid metabolic process (GO:1901605) -4.50.0MTR, MTRR, MTHFD1, MTHFR
alpha-amino acid biosynthetic process (GO:1901607) -5.510.0MTR, MTRR, MTHFD1, MTHFR
water-soluble vitamin metabolic process (GO:0006767) -5.290.0MTR, MTRR, MTHFD1, MTHFR
vitamin metabolic process (GO:0006766) -4.970.0MTR, MTRR, MTHFD1, MTHFR
folic acid-containing compound metabolic process (GO:0006760) -6.40.0MTHFD1, MTRR, MTHFR
cellular amino acid biosynthetic process (GO:0008652) -5.490.0MTR, MTRR, MTHFD1, MTHFR
sulfur amino acid biosynthetic process (GO:0000097) NEW8.340.0MTR, MTRR, MTHFD1, MTHFR
sulfur amino acid metabolic process (GO:0000096) -6.470.0MTR, MTRR, MTHFD1, MTHFR
single-organism biosynthetic process (GO:0044711) -2.80.002MTR, MTRR, MTHFD1, MTHFR
oxoacid metabolic process (GO:0043436) -3.120.001MTR, MTRR, MTHFD1, MTHFR
dicarboxylic acid metabolic process (GO:0043648) NEW5.30.0MTHFD1, MTRR, MTHFR
organonitrogen compound metabolic process (GO:1901564) -2.320.015MTR, MTRR, MTHFD1, MTHFR
cellular modified amino acid metabolic process (GO:0006575) -4.690.019MTHFD1, MTRR, MTHFR
organonitrogen compound biosynthetic process (GO:1901566) -2.850.0MTR, MTRR, MTHFD1, MTHFR
sulfur compound biosynthetic process (GO:0044272) NEW4.50.0MTR, MTRR, MTHFD1, MTHFR
carboxylic acid biosynthetic process (GO:0046394) -4.320.0MTR, MTRR, MTHFD1, MTHFR
methionine metabolic process (GO:0006555) -6.840.0MTR, MTRR, MTHFD1, MTHFR
organic acid biosynthetic process (GO:0016053) -4.260.0MTR, MTRR, MTHFD1, MTHFR
sulfur compound metabolic process (GO:0006790) -3.870.0MTR, MTRR, MTHFD1, MTHFR
methionine biosynthetic process (GO:0009086) -7.090.0MTR, MTRR, MTHFD1, MTHFR
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.284MTR, MTRR, MTHFD1, MTHFR
cytosol (GO:0005829) 1.684MTR, MTRR, MTHFD1, MTHFR
cell part (GO:0044464) 0.114MTR, MTRR, MTHFD1, MTHFR
cytoplasmic part (GO:0044444) 0.824MTR, MTRR, MTHFD1, MTHFR
cytoplasm (GO:0005737) 1.013MTR, MTHFD1, MTRR
intracellular organelle (GO:0043229) 0.512MTHFD1, MTRR
organelle (GO:0043226) 0.42MTHFD1, MTRR

NET-GE enrichment

Term New enriched termICP valueGenes
cytosol (GO:0005829) -1.680.01MTR, MTRR, MTHFD1, MTHFR