One-carbon metabolism and related pathways

Pathway network for the One-carbon metabolism and related pathways SuperPath

Sources:
  • WikiPathways
  • PubChem

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with One-carbon metabolism and related pathways SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Neural tube defects, folate-sensitiveEnrichmentMTHFD1, MTHFR, MTR6.36
2HomocystinuriaEnrichmentCBS, MTR4.16
3Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesEnrichmentSHMT23.66
4Dyskeratosis congenita, digenicEnrichmentTYMS3.35
5Myocardial infarctionEnrichmentGCLC, GCLM2.52
6CystathioninuriaEnrichmentCTH2.42
7Beta-aminoisobutyric aciduriaEnrichmentAGXT22.42
8Glutathione synthetase deficiencyEnrichmentGSS2.42
9Cardiac valvular dysplasia 1EnrichmentPLD12.42
10Anemia, congenital, nonspherocytic hemolytic, 6EnrichmentGSS2.42
11Spondylometaphyseal dysplasia, sedaghatian typeEnrichmentGPX42.42
12Anemia, congenital, nonspherocytic hemolytic, 7EnrichmentGCLC2.42
13Homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activityEnrichmentMTHFR2.42
14Anemia, congenital, nonspherocytic hemolytic, 10EnrichmentGSR2.42
15Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizuresEnrichmentCHKA2.42
16Proximal myopathy with focal depletion of mitochondriaEnrichmentCHKB2.42
17Hypervalinemia and hyperleucine-isoleucinemiaEnrichmentBCAT22.42
18Developmental and epileptic encephalopathy 89EnrichmentGAD12.42
19Dimethylglycine dehydrogenase deficiencyEnrichmentDMGDH2.42
20SarcosinemiaEnrichmentSARDH2.42
21Heyn-sproul-jackson syndromeEnrichmentDNMT3A2.42
22Glutathione peroxidase deficiencyEnrichmentGPX12.42
23Hypercholanemia, familial 3EnrichmentBAAT2.42
24Dyskeratosis congenitaEnrichmentTYMS2.38
25Neu-laxova syndrome 1EnrichmentPHGDH2.31
26Phosphoglycerate dehydrogenase deficiencyEnrichmentPHGDH2.31
27Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiencyEnrichmentAHCY2.31
28HyperhomocysteinemiaEnrichmentCBS2.31
29Phosphoserine aminotransferase deficiencyEnrichmentPSAT12.31
30Phosphoserine phosphatase deficiencyEnrichmentPSPH2.31
31Megaloblastic anemia due to dihydrofolate reductase deficiencyEnrichmentDHFR2.31
32Neu-laxova syndrome 2EnrichmentPSAT12.31
33Neurometabolic disorder due to serine deficiencyEnrichmentPSAT12.31
34Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiencyEnrichmentPSPH2.31
35Glycine n-methyltransferase deficiencyEnrichmentGNMT2.12
36Methionine adenosyltransferase i/iii deficiencyEnrichmentMAT1A2.12
37Spondylometaphyseal dysplasia with cone-rod dystrophyEnrichmentPCYT1A2.12
38Peroxisome biogenesis disorder 4bEnrichmentGNMT2.12
39Spastic paraplegia 82, autosomal recessiveEnrichmentPCYT22.12
40Spastic tetraplegia and axial hypotonia, progressiveEnrichmentSOD12.12
41Tatton-brown-rahman syndromeEnrichmentDNMT3A2.12
42Disorders of intracellular cobalamin metabolismEnrichmentMTR2.12
43Isolated anencephalyEnrichmentMTHFR2.12
44Lipodystrophy, congenital generalized, type 5EnrichmentPCYT1A2.12
45Isolated exencephalyEnrichmentMTHFR2.12
46Methionine adenosyltransferase deficiencyEnrichmentMAT1A2.12
47Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B2.01
48Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiaEnrichmentMTHFD12.01
49Glycine encephalopathy 2EnrichmentAMT2.01
50Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B2.01
51Homocystinuria-megaloblastic anemia, cblg typeEnrichmentMTR1.95
52Brown-vialetto-van laere syndrome 2EnrichmentGNMT1.95
53Developmental and epileptic encephalopathy 31bEnrichmentDNM11.95
54West syndromeEnrichmentDNM1, MTHFR1.93
55Homocystinuria due to cystathionine beta-synthase deficiencyEnrichmentCBS1.84
56Familial adenomatous polyposis 4EnrichmentDHFR1.84
57Muscular dystrophy, congenital, megaconial typeEnrichmentCHKB1.83
58Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesEnrichmentGAD11.83
59Spastic quadriplegic cerebral palsyEnrichmentGAD11.83
60Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentSOD11.73
61Developmental and epileptic encephalopathy 31aEnrichmentDNM11.73
62Myeloproliferative neoplasmEnrichmentDNMT3A1.73
63GlioblastomaEnrichmentDNMT3A1.73
64Atypical glycine encephalopathyEnrichmentAMT1.71
65Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCBS, MAT2A1.71
66Familial hypercholanemiaEnrichmentBAAT1.65
67Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A1.65
68Thrombophilia due to thrombin defectEnrichmentMTHFR1.58
69Motor neuron diseaseEnrichmentSOD11.58
70Facioscapulohumeral muscular dystrophy 1EnrichmentDNMT3B1.54
71Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B1.54
72Glycine encephalopathyEnrichmentAMT1.54
73Lennox-gastaut syndromeEnrichmentDNM11.53
74Amyotrophic lateral sclerosis 1EnrichmentSOD11.43
75MelanomaEnrichmentDNMT3A1.43
76Glycine encephalopathy 1EnrichmentAMT1.42
77Specific learning disabilityEnrichmentDNMT3A1.39
78Neural tube defectsEnrichmentMTHFR1.32
79Stereotypic movement disorderEnrichmentDNM11.32
80Rare genetic intellectual disabilityEnrichmentDNMT3A1.26
81GliosarcomaEnrichmentDNMT3A1.23
82Giant cell glioblastomaEnrichmentDNMT3A1.21
83Diffuse large b-cell lymphomaEnrichmentDNMT3A1.16
84Muscular dystrophyEnrichmentCHKB1.06
85Endometrial cancerEnrichmentDHFR1.01
86Cystic fibrosisEnrichmentGCLC0.94
87Leukemia, acute myeloidEnrichmentDNMT3A0.85
88EpilepsyEnrichmentMTR0.85
89Connective tissue diseaseEnrichmentCBS0.84
90Severe combined immunodeficiencyEnrichmentMTHFD10.83
91Body mass index quantitative trait locus 11EnrichmentDNMT3A0.76
92Myeloma, multipleEnrichmentDNMT3A0.72
93Undetermined early-onset epileptic encephalopathyEnrichmentDNM10.72
94Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentSOD10.71
95Autosomal recessive non-syndromic intellectual disabilityEnrichmentCHKA0.71
96SchizophreniaEnrichmentMTHFR0.70
97Leber plus diseaseEnrichmentPCYT1A0.52
98Congenital nervous system abnormalityEnrichmentDNMT3A0.48
99Nervous system diseaseEnrichmentDNMT3A0.48
100Autism spectrum disorderEnrichmentDNMT3A0.47
101MicrocephalyEnrichmentCHKA0.43
102Inherited cancer-predisposing syndromeEnrichmentDHFR0.32

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