purine nucleotides de novo biosynthesis

Pathway network for the purine nucleotides de novo biosynthesis SuperPath

Sources:
  • PubChem
  • Reactome

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

Disorders associated with purine nucleotides de novo biosynthesis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Aica-ribosiduria due to atic deficiencyEnrichmentATIC2.99
2Adenylosuccinase deficiencyEnrichmentADSL2.99
3Retinitis pigmentosa 10EnrichmentIMPDH12.99
4Impdh2 enzyme activity, variation inEnrichmentIMPDH22.99
5Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6EnrichmentRRM12.99
6Leber congenital amaurosis 11EnrichmentIMPDH12.99
7Mitochondrial dna depletion syndrome 8bEnrichmentRRM2B2.99
8Ciliary dyskinesia, primary, 48, without situs inversusEnrichmentNME52.99
9Rrm2b mitochondrial dna maintenance defectsEnrichmentRRM2B2.99
10Phosphoribosylaminoimidazole carboxylase deficiencyEnrichmentPAICS2.69
11Mitochondrial dna depletion syndrome 21EnrichmentGUK12.69
12Fanconi renotubular syndrome 1EnrichmentRRM2B2.69
13Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunctionEnrichmentRRM2B2.69
14Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5EnrichmentRRM2B2.69
15Mitochondrial dna depletion syndrome 8aEnrichmentRRM2B2.69
16Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2EnrichmentRRM2B2.69
17Spermatogenic failure 27EnrichmentAK72.67
18Myopathy, distal, 5EnrichmentADSS12.67
19Immunodeficiency 24EnrichmentCTPS12.67
20Anemia, congenital, nonspherocytic hemolytic, 10EnrichmentGSR2.67
21Bone marrow failure and diabetes mellitus syndromeEnrichmentDUT2.67
22Neurodegeneration, childhood-onset, with progressive microcephalyEnrichmentDTYMK2.67
23Glomerulopathy with fibronectin deposits 2EnrichmentATIC2.51
24Cerebroretinal microangiopathy with calcifications and cysts 1EnrichmentPFAS2.51
25Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentIMPDH22.51
26Idiopathic camptocormiaEnrichmentRRM2B2.51
27Immunoerythromyeloid hypoplasiaEnrichmentAK22.37
28Reticular dysgenesisEnrichmentAK22.37
29Anemia, congenital, nonspherocytic hemolytic, 3EnrichmentAK12.37
30Spermatogenic failure 89EnrichmentAK92.37
31Dyskeratosis congenita, digenicEnrichmentTYMS2.37
32Kearns-sayre syndromeEnrichmentRRM2B2.29
33Early myoclonic encephalopathyEnrichmentADSL2.21
34Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentRRM2B2.21
35Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentRRM2B2.03
36Isolated tracheo-esophageal fistulaEnrichmentGART1.99
37Esophageal atresia/tracheoesophageal fistulaEnrichmentGART1.71
38Dyskeratosis congenitaEnrichmentPFAS1.71
39Retinitis pigmentosaEnrichmentIMPDH1, RRM2B1.71
40Postsynaptic congenital myasthenic syndromesEnrichmentAK91.60
41Visceral heterotaxy 5EnrichmentNME71.50
42DystoniaEnrichmentIMPDH21.45
43Nephrotic syndromeEnrichmentATIC1.36
44Non-syndromic male infertility due to sperm motility disorderEnrichmentAK71.32
45Sensorineural hearing lossEnrichmentRRM2B1.31
46Severe combined immunodeficiencyEnrichmentAK21.17
47Primary ciliary dyskinesiaEnrichmentNME51.12
48Fetal akinesia deformation sequence 1EnrichmentADSS11.12
49Distal arthrogryposisEnrichmentADSS11.07
50Mitochondrial diseaseEnrichmentRRM2B1.06
51Leber plus diseaseEnrichmentIMPDH11.03
52Hereditary retinal dystrophyEnrichmentIMPDH10.58
53Fundus dystrophyEnrichmentIMPDH10.58

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