ATP/ITP metabolism

No Pathway Network information available for ATP/ITP metabolism

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

Disorders associated with ATP/ITP metabolism SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR1C, POLR3A, POLR3B5.63
2Pontocerebellar hypoplasia, type 1eEnrichmentEXOSC3, EXOSC8, EXOSC95.33
3Treacher collins syndrome 1EnrichmentPOLR1B, POLR1C, POLR1D5.09
4Adenosine monophosphate deaminase deficiencyEnrichmentAMPD1, AMPD34.41
5Polr3-related leukodystrophyEnrichmentPOLR3A, POLR3B3.94
6Pontocerebellar hypoplasiaEnrichmentAMPD2, EXOSC3, EXOSC93.74
7Hypomyelinating leukodystrophy 7EnrichmentPOLR3A, POLR3B3.64
8Severe combined immunodeficiencyEnrichmentADA, AK2, PNP2.95
9Spastic ataxiaEnrichmentAMPD2, EXOSC8, POLR3A2.35
10Calcification of joints and arteriesEnrichmentNT5E2.20
11Erythrocyte amp deaminase deficiencyEnrichmentAMPD32.20
12Adenylosuccinase deficiencyEnrichmentADSL2.20
13Spondyloenchondrodysplasia with immune dysregulationEnrichmentACP52.20
14Hypermethioninemia due to adenosine kinase deficiencyEnrichmentADK2.20
15Acid phosphatase deficiencyEnrichmentACP22.20
16Pontocerebellar hypoplasia, type 1fEnrichmentEXOSC12.20
17Cerebellar ataxia, brain abnormalities, and cardiac conduction defectsEnrichmentEXOSC52.20
18Leukodystrophy, hypomyelinating, 27EnrichmentPOLR1A2.20
19Treacher collins syndrome 4EnrichmentPOLR1B2.20
20Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6EnrichmentRRM12.20
21Spermatogenic failure 27EnrichmentAK72.20
22Mitochondrial dna depletion syndrome 8bEnrichmentRRM2B2.20
23Immunodeficiency 101EnrichmentPOLR3F2.20
24Leukodystrophy, hypomyelinating, 21EnrichmentPOLR3K2.20
25Treacher collins syndrome 2EnrichmentPOLR1D2.20
26Myopathy, distal, 5EnrichmentADSS12.20
27Purine nucleoside phosphorylase deficiencyEnrichmentPNP2.20
28Pontocerebellar hypoplasia, type 1cEnrichmentEXOSC82.20
29Pontocerebellar hypoplasia, type 1dEnrichmentEXOSC92.20
30Myopathy due to myoadenylate deaminase deficiencyEnrichmentAMPD12.20
31Short stature, hearing loss, retinitis pigmentosa, and distinctive faciesEnrichmentEXOSC22.20
32Combined oxidative phosphorylation deficiency 55EnrichmentPOLRMT2.20
33Adar-related hereditary spastic paraplegiaEnrichmentADAR2.20
34OdontoleukodystrophyEnrichmentPOLR3A2.20
35Rrm2b mitochondrial dna maintenance defectsEnrichmentRRM2B2.20
36LeukodystrophyEnrichmentPOLR3A, POLR3B2.16
37Fanconi renotubular syndrome 1EnrichmentRRM2B1.90
38Immunoerythromyeloid hypoplasiaEnrichmentAK21.90
39Reticular dysgenesisEnrichmentAK21.90
40Treacher collins syndrome 3EnrichmentPOLR1C1.90
41Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunctionEnrichmentRRM2B1.90
42Leukodystrophy, hypomyelinating, 4EnrichmentPOLR3A1.90
43Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5EnrichmentRRM2B1.90
44Waardenburg syndrome, type 4cEnrichmentPOLR2F1.90
45Mitochondrial dna depletion syndrome 8aEnrichmentRRM2B1.90
46Dyschromatosis symmetrica hereditariaEnrichmentADAR1.90
47Adenine phosphoribosyltransferase deficiencyEnrichmentAPRT1.90
48Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR3B1.90
49Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2EnrichmentRRM2B1.90
50Inosine triphosphatase deficiencyEnrichmentITPA1.90
51Aicardi-goutieres syndrome 6EnrichmentADAR1.90
52Leukoencephalopathy, progressive, with ovarian failureEnrichmentPOLR1C1.90
53Neurodevelopmental disorder with hypotonia, microcephaly, and seizuresEnrichmentADARB11.90
54Charcot-marie-tooth disease, demyelinating, type 1iEnrichmentPOLR3B1.90
55Spastic paraplegia 64, autosomal recessiveEnrichmentENTPD11.90
56Leukodystrophy, hypomyelinating, 11EnrichmentPOLR1C1.90
57Developmental and epileptic encephalopathy 35EnrichmentITPA1.90
58Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.90
59Anemia, congenital, nonspherocytic hemolytic, 3EnrichmentAK11.90
60Spastic paraplegia 45, autosomal recessiveEnrichmentNT5C21.90
61Acrofacial dysostosis, cincinnati typeEnrichmentPOLR1A1.90
62Congenital pontocerebellar hypoplasia type 1EnrichmentEXOSC31.90
63Symmetrical dyschromatosis of extremitiesEnrichmentADAR1.90
64Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentADA1.73
65Waardenburg syndrome, type 2aEnrichmentPOLR2F1.73
66Wiedemann-rautenstrauch syndromeEnrichmentPOLR3A1.73
67Lesch-nyhan syndromeEnrichmentHPRT11.73
68Hyperuricemia, hprt-relatedEnrichmentHPRT11.73
69Burn-mckeown syndromeEnrichmentPOLR1A1.73
70Pontocerebellar hypoplasia, type 9EnrichmentAMPD21.73
71Infantile cerebellar-retinal degenerationEnrichmentPOLR3H1.73
72Optic atrophy 9EnrichmentPOLR3H1.73
73Pontocerebellar hypoplasia, type 1bEnrichmentEXOSC31.73
74Viss syndromeEnrichmentPOLR3B1.73
75Cerebellar diseaseEnrichmentEXOSC31.73
76Spastic paraplegia 63, autosomal recessiveEnrichmentAMPD21.73
77Idiopathic camptocormiaEnrichmentRRM2B1.73
78Neonatal pseudo-hydrocephalic progeroid syndromeEnrichmentPOLR3A1.73
79Fetal akinesia deformation sequence 1EnrichmentADSS1, EXOSC31.65
80Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.60
81Adenosine deaminase deficiencyEnrichmentADA1.60
82Familial infantile bilateral striatal necrosisEnrichmentADAR1.60
83Kearns-sayre syndromeEnrichmentRRM2B1.51
84Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentADA1.51
85Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F1.51
86Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentRRM2B1.43
87Waardenburg syndrome, type 4aEnrichmentPOLR2F1.43
88Early myoclonic encephalopathyEnrichmentADSL1.43
89Waardenburg syndromeEnrichmentPOLR2F1.43
90Waardenburg syndrome, type 1EnrichmentPOLR2F1.37
91Waardenburg syndrome, type 2eEnrichmentPOLR2F1.37
92Tooth agenesis, selective, 1EnrichmentITPA1.26
93Aicardi-goutiares syndromeEnrichmentADAR1.26
94Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentRRM2B1.26
95Omenn syndromeEnrichmentADA1.22
96Aicardi-goutieres syndromeEnrichmentADAR1.22
97Movement diseaseEnrichmentPOLR3A1.18
9846 xx gonadal dysgenesisEnrichmentPOLR3H1.14
99Hypercholesterolemia, familial, 1EnrichmentEPHX21.11
100Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentPOLR3B1.07
101Familial hypercholesterolemiaEnrichmentEPHX21.05
102Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B0.95
103Congenital myopathyEnrichmentEXOSC30.95
104LissencephalyEnrichmentEXOSC30.91
105Tooth agenesisEnrichmentITPA0.89
106Kallmann syndromeEnrichmentPOLR2F0.87
107Non-syndromic male infertility due to sperm motility disorderEnrichmentAK70.87
108Congenital nervous system abnormalityEnrichmentAMPD2, EXOSC30.85
109Nervous system diseaseEnrichmentAMPD2, EXOSC30.85
110Developmental and epileptic encephalopathy 1EnrichmentITPA0.84
111Hirschsprung disease 1EnrichmentPOLR2F0.78
112Severe covid-19EnrichmentENTPD20.78
113Visceral heterotaxy 5EnrichmentNME70.75
114MicrocephalyEnrichmentACYP1, EXOSC30.74
115Developmental and epileptic encephalopathyEnrichmentITPA0.69
116Distal arthrogryposisEnrichmentADSS10.63
117Optic atrophy plus syndromeEnrichmentPOLR3H0.62
118Sensorineural hearing lossEnrichmentRRM2B0.58
119Myeloma, multipleEnrichmentDIS30.53
120Rare genetic deafnessEnrichmentPOLR2F0.41
121Colorectal cancerEnrichmentADAR0.37
122Mitochondrial diseaseEnrichmentRRM2B0.37
123Retinitis pigmentosaEnrichmentRRM2B0.13

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