Disorders of folate metabolism and transport

Pathway network for the Disorders of folate metabolism and transport SuperPath

Sources:

WikiPathways
PubChem

Pathways in the Disorders of folate metabolism and transport SuperPath

#	Name	Source	Genes
1	Disorders of folate metabolism and transport	WikiPathways	ALDH1L1 ALDH1L2 ATIC FOLR1 FTCD MTHFD1 MTHFD2 MTHFD2L MTHFR MTR QDPR SHMT1 SHMT2 SLC19A1 SLC46A1 TYMS (see all 16) (see less)
2	Glycine metabolism	WikiPathways	MTHFR SHMT1 SHMT2
3	glycine/serine biosynthesis	PubChem	SHMT1 SHMT2

Gene overlap in member pathways for Disorders of folate metabolism and transport SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	SHMT2	Serine Hydroxymethyltransferase 2	Protein Coding	3
2	SHMT1	Serine Hydroxymethyltransferase 1	Protein Coding	3
3	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	2
4	MTHFD2L	Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2 Like	Protein Coding	1
5	FOLR1	Folate Receptor Alpha	Protein Coding	1
6	MTHFD2	Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2, Methenyltetrahydrofolate Cyclohydrolase	Protein Coding	1
7	QDPR	Quinoid Dihydropteridine Reductase	Protein Coding	1
8	FTCD	Formimidoyltransferase Cyclodeaminase	Protein Coding	1
9	ALDH1L1	Aldehyde Dehydrogenase 1 Family Member L1	Protein Coding	1
10	ALDH1L2	Aldehyde Dehydrogenase 1 Family Member L2	Protein Coding	1
11	SLC19A1	Solute Carrier Family 19 Member 1	Protein Coding	1
12	SLC46A1	Solute Carrier Family 46 Member 1	Protein Coding	1
13	MTHFD1	Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1	Protein Coding	1
14	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	1
15	ATIC	5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase	Protein Coding	1
16	TYMS	Thymidylate Synthetase	Protein Coding	1

Disorders associated with Disorders of folate metabolism and transport SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Neural tube defects, folate-sensitive	Enrichment	MTHFD1, MTHFR, MTR	8.27
2	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	Enrichment	SHMT2	3.83
3	Homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity	Enrichment	MTHFR	3.66
4	Isolated anencephaly	Enrichment	MTHFR	3.35
5	Isolated exencephaly	Enrichment	MTHFR	3.35
6	Aica-ribosiduria due to atic deficiency	Enrichment	ATIC	2.93
7	Megaloblastic anemia, folate-responsive	Enrichment	SLC19A1	2.93
8	Neurodegeneration due to cerebral folate transport deficiency	Enrichment	FOLR1	2.93
9	Immunodeficiency 114, folate-responsive	Enrichment	SLC19A1	2.93
10	Neurodegenerative syndrome due to cerebral folate transport deficiency	Enrichment	FOLR1	2.93
11	Thrombophilia due to thrombin defect	Enrichment	MTHFR	2.81
12	Glutamate formiminotransferase deficiency	Enrichment	FTCD	2.63
13	Hyperphenylalaninemia, bh4-deficient, c	Enrichment	QDPR	2.63
14	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Enrichment	MTHFD1	2.63
15	Glaucoma, primary closed-angle	Enrichment	SLC19A1	2.63
16	Disorders of intracellular cobalamin metabolism	Enrichment	MTR	2.63
17	Dyskeratosis congenita, digenic	Enrichment	TYMS	2.63
18	Neural tube defects	Enrichment	MTHFR	2.54
19	Homocystinuria-megaloblastic anemia, cblg type	Enrichment	MTR	2.45
20	Glomerulopathy with fibronectin deposits 2	Enrichment	ATIC	2.45
21	Folate malabsorption, hereditary	Enrichment	SLC46A1	2.45
22	Homocystinuria	Enrichment	MTR	2.45
23	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Enrichment	QDPR	2.45
24	Knobloch syndrome	Enrichment	SLC19A1	2.33
25	Knobloch syndrome 1	Enrichment	SLC19A1	2.23
26	Hyperphenylalaninemia, bh4-deficient, a	Enrichment	QDPR	2.15
27	West syndrome	Enrichment	MTHFR	2.01
28	Schizophrenia	Enrichment	MTHFR	1.89
29	Cataract	Enrichment	SLC19A1	1.79
30	Dyskeratosis congenita	Enrichment	TYMS	1.65
31	Stargardt disease 1	Enrichment	SLC19A1	1.46
32	Lung cancer	Enrichment	SLC19A1	1.43
33	Severe combined immunodeficiency	Enrichment	MTHFD1	1.42
34	Epilepsy	Enrichment	MTR	1.34
35	Nephrotic syndrome	Enrichment	ATIC	1.30
36	Retinitis pigmentosa	Enrichment	SLC19A1	0.65
37	Hereditary retinal dystrophy	Enrichment	SLC19A1	0.53
38	Fundus dystrophy	Enrichment	SLC19A1	0.53

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Disorders of folate metabolism and transport

Pathway Network for Disorders of folate metabolism and transport

Pathway network for the Disorders of folate metabolism and transport SuperPath

Member Pathways for Disorders of folate metabolism and transport

Pathways in the Disorders of folate metabolism and transport SuperPath

Gene overlap in member pathways for Disorders of folate metabolism and transport SuperPath

Associated Genes for Disorders of folate metabolism and transport

Associated Disorders for Disorders of folate metabolism and transport

Disorders associated with Disorders of folate metabolism and transport SuperPath

STRING Interaction Network for Disorders of folate metabolism and transport

Sources for Disorders of folate metabolism and transport