Pyrimidine metabolism and related diseases

No Pathway Network information available for Pyrimidine metabolism and related diseases

Pathways in the Pyrimidine metabolism and related diseases SuperPath

#	Name	Source	Genes
1	Pyrimidine metabolism and related diseases	WikiPathways	ABAT AGXT2 ALDH6A1 CPS1 DHODH DPYD DPYS GLS2 NT5C NT5C3A OTC RRM1 RRM2 RRM2B TK2 TYMP TYMS UPB1 (see all 18) (see less)
2	Biomarkers for pyrimidine metabolism disorders	WikiPathways	CKB DHODH DPYD DPYS NT5C NT5C3A PUS1 RRM1 RRM2 RRM2B TK2 TYMP TYMS UPB1 (see all 14) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	NT5C3A	5''-Nucleotidase, Cytosolic IIIA	Protein Coding	2
2	UPB1	Beta-Ureidopropionase 1	Protein Coding	2
3	NT5C	5'', 3''-Nucleotidase, Cytosolic	Protein Coding	2
4	TYMP	Thymidine Phosphorylase	Protein Coding	2
5	TK2	Thymidine Kinase 2	Protein Coding	2
6	RRM2B	Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B	Protein Coding	2
7	DHODH	Dihydroorotate Dehydrogenase (Quinone)	Protein Coding	2
8	DPYS	Dihydropyrimidinase	Protein Coding	2
9	DPYD	Dihydropyrimidine Dehydrogenase	Protein Coding	2
10	TYMS	Thymidylate Synthetase	Protein Coding	2
11	RRM1	Ribonucleotide Reductase Catalytic Subunit M1	Protein Coding	2
12	RRM2	Ribonucleotide Reductase Regulatory Subunit M2	Protein Coding	2
13	GLS2	Glutaminase 2	Protein Coding	1
14	OTC	Ornithine Transcarbamylase	Protein Coding	1
15	CPS1	Carbamoyl-Phosphate Synthase 1	Protein Coding	1
16	ALDH6A1	Aldehyde Dehydrogenase 6 Family Member A1	Protein Coding	1
17	AGXT2	Alanine--Glyoxylate Aminotransferase 2	Protein Coding	1
18	ABAT	4-Aminobutyrate Aminotransferase	Protein Coding	1
19	PUS1	Pseudouridine Synthase 1	Protein Coding	1
20	CKB	Creatine Kinase B	Protein Coding	1

Disorders associated with Pyrimidine metabolism and related diseases SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	RRM2B, TYMP	4.45
2	Dihydropyrimidinase deficiency	Enrichment	DPYS	2.99
3	Anemia, congenital, nonspherocytic hemolytic, 8	Enrichment	NT5C3A	2.99
4	Beta-ureidopropionase deficiency	Enrichment	UPB1	2.99
5	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6	Enrichment	RRM1	2.99
6	Mitochondrial dna depletion syndrome 8b	Enrichment	RRM2B	2.99
7	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3	Enrichment	TK2	2.99
8	Myopathy, lactic acidosis, and sideroblastic anemia	Enrichment	PUS1	2.99
9	Rrm2b mitochondrial dna maintenance defects	Enrichment	RRM2B	2.99
10	1p21.3 microdeletion syndrome	Enrichment	DPYD	2.99
11	Beta-aminoisobutyric aciduria	Enrichment	AGXT2	2.88
12	Ornithine transcarbamylase deficiency, hyperammonemia due to	Enrichment	OTC	2.88
13	Gaba aminotransferase deficiency	Enrichment	ABAT	2.88
14	Gaba-transaminase deficiency	Enrichment	ABAT	2.88
15	Pulmonary hypertension, neonatal	Enrichment	CPS1	2.88
16	Disorder of ornithine metabolism	Enrichment	OTC	2.88
17	Fanconi renotubular syndrome 1	Enrichment	RRM2B	2.69
18	Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction	Enrichment	RRM2B	2.69
19	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5	Enrichment	RRM2B	2.69
20	Mitochondrial dna depletion syndrome 2	Enrichment	TK2	2.69
21	Mitochondrial dna depletion syndrome 8a	Enrichment	RRM2B	2.69
22	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2	Enrichment	RRM2B	2.69
23	Miller syndrome	Enrichment	DHODH	2.69
24	Autosomal recessive progressive external ophthalmoplegia	Enrichment	TK2	2.69
25	Dyskeratosis congenita, digenic	Enrichment	TYMS	2.69
26	Carbamoyl phosphate synthetase i deficiency, hyperammonemia due to	Enrichment	CPS1	2.58
27	Methylmalonate semialdehyde dehydrogenase deficiency	Enrichment	ALDH6A1	2.58
28	Dihydropyrimidine dehydrogenase deficiency	Enrichment	DPYD	2.51
29	Idiopathic camptocormia	Enrichment	RRM2B	2.51
30	Mitochondrial disease	Enrichment	RRM2B, TK2	2.45
31	Myopathy, lactic acidosis, and sideroblastic anemia 1	Enrichment	PUS1	2.38
32	Kearns-sayre syndrome	Enrichment	RRM2B	2.29
33	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	Enrichment	RRM2B	2.21
34	Mitochondrial dna depletion syndrome 1	Enrichment	TYMP	2.21
35	Mitochondrial dna depletion syndrome	Enrichment	TK2	2.21
36	Mitochondrial dna depletion syndrome 4b	Enrichment	TYMP	2.08
37	Dyskeratosis congenita	Enrichment	TYMS	1.71
38	Myopathy	Enrichment	TK2	1.39
39	Sensorineural hearing loss	Enrichment	RRM2B	1.31
40	Hereditary breast ovarian cancer syndrome	Enrichment	CPS1	1.15
41	Retinitis pigmentosa	Enrichment	RRM2B	0.70

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

Pyrimidine metabolism and related diseases

Pathway Network for Pyrimidine metabolism and related diseases

Member Pathways for Pyrimidine metabolism and related diseases

Pathways in the Pyrimidine metabolism and related diseases SuperPath

Associated Genes for Pyrimidine metabolism and related diseases

Associated Disorders for Pyrimidine metabolism and related diseases

Disorders associated with Pyrimidine metabolism and related diseases SuperPath

STRING Interaction Network for Pyrimidine metabolism and related diseases

Sources for Pyrimidine metabolism and related diseases