Nucleotide metabolism

No Pathway Network information available for Nucleotide metabolism

Pathways in the Nucleotide metabolism SuperPath

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

Disorders associated with Nucleotide metabolism SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Idiopathic camptocormiaEnrichmentPOLG, RRM2B5.25
2Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentPOLG, RRM2B4.56
3Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentPOLG, RRM2B4.18
4Charcot-marie-tooth disease, x-linked recessive, 5EnrichmentPRPS12.85
5Van esch-o'driscoll syndromeEnrichmentPOLA12.85
6Arts syndromeEnrichmentPRPS12.85
7Colorectal cancer 10EnrichmentPOLD12.85
8Adenylosuccinase deficiencyEnrichmentADSL2.85
9Retinitis pigmentosa 10EnrichmentIMPDH12.85
10Pigmentary disorder, reticulate, with systemic manifestations, x-linkedEnrichmentPOLA12.85
11Immunodeficiency 120EnrichmentPOLD12.85
12Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6EnrichmentRRM12.85
13Phosphoribosylpyrophosphate synthetase superactivityEnrichmentPRPS12.85
14Deafness, x-linked 1EnrichmentPRPS12.85
15Mitochondrial dna depletion syndrome 8bEnrichmentRRM2B2.85
16Leber congenital amaurosis 11EnrichmentIMPDH12.85
17Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeEnrichmentPOLD12.85
18Megaloblastic anemia due to dihydrofolate reductase deficiencyEnrichmentDHFR2.85
19Childhood myocerebrohepatopathy spectrumEnrichmentPOLG2.85
20X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeEnrichmentPRPS12.85
21Spinocerebellar ataxia with epilepsyEnrichmentPOLG2.85
22Rrm2b mitochondrial dna maintenance defectsEnrichmentRRM2B2.85
23Recessive mitochondrial ataxia syndromeEnrichmentPOLG2.85
24Fanconi renotubular syndrome 1EnrichmentRRM2B2.55
25Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunctionEnrichmentRRM2B2.55
26Fanconi anemia, complementation group iEnrichmentPOLG2.55
27Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5EnrichmentRRM2B2.55
28Mitochondrial dna depletion syndrome 8aEnrichmentRRM2B2.55
29Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2EnrichmentRRM2B2.55
30Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1EnrichmentPOLG2.55
31Polg-related disordersEnrichmentPOLG2.55
32Autosomal recessive progressive external ophthalmoplegiaEnrichmentPOLG2.55
33Partington syndromeEnrichmentPOLA12.38
34Lesch-nyhan syndromeEnrichmentHPRT12.38
35Hyperuricemia, hprt-relatedEnrichmentHPRT12.38
36Familial adenomatous polyposis 4EnrichmentDHFR2.38
37Keratosis follicularis spinulosa decalvansEnrichmentSAT12.38
38Polymerase proofreading-related polyposisEnrichmentPOLD12.38
39Generalized epilepsyEnrichmentPOLG2.25
40Pediatric systemic lupus erythematosusEnrichmentSAT12.25
41Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentPRPS12.25
42Mitochondrial diseaseEnrichmentPOLG, RRM2B2.19
43Kearns-sayre syndromeEnrichmentRRM2B2.16
44Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisEnrichmentPOLG2.16
45Machado-joseph diseaseEnrichmentPOLG2.08
46Mitochondrial dna depletion syndrome 1EnrichmentPOLG2.08
47Mitochondrial dna depletion syndromeEnrichmentPOLG2.08
48Early myoclonic encephalopathyEnrichmentADSL2.08
49Mitochondrial dna depletion syndrome 4aEnrichmentPOLG2.01
50Mitochondrial dna depletion syndrome 4bEnrichmentPOLG1.95
51Autosomal dominant cerebellar ataxiaEnrichmentPOLG1.90
52Inherited cancer-predisposing syndromeEnrichmentDHFR, POLD11.84
53Combined immunodeficiencyEnrichmentPOLD11.82
54Combined t cell and b cell immunodeficiencyEnrichmentPOLD11.82
55Familial colorectal cancer type xEnrichmentPOLD11.82
56Combined t and b cell immunodeficiencyEnrichmentPOLD11.82
57Endometrial cancerEnrichmentDHFR1.54
58Pancreatic cancerEnrichmentPOLD11.46
59Retinitis pigmentosaEnrichmentIMPDH1, RRM2B1.46
60Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesEnrichmentPOLG1.28
61Hereditary spastic paraplegiaEnrichmentPOLG1.24
62Hypertrophic cardiomyopathyEnrichmentPOLG1.23
63Hereditary retinal dystrophyEnrichmentIMPDH1, PRPS11.21
64Fundus dystrophyEnrichmentIMPDH1, PRPS11.21
65Sensorineural hearing lossEnrichmentRRM2B1.19
66Body mass index quantitative trait locus 11EnrichmentPOLG1.17
67Primary ovarian insufficiencyEnrichmentPOLG1.10
68Leigh syndrome, nuclearEnrichmentPOLG1.03
69Colorectal cancerEnrichmentPOLD10.94
70Leber plus diseaseEnrichmentIMPDH10.90
71Congenital nervous system abnormalityEnrichmentPOLG0.86
72Nervous system diseaseEnrichmentPOLG0.86

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