RNA Polymerase I Transcription Termination

Pathway network for the RNA Polymerase I Transcription Termination SuperPath

Sources:
  • Reactome
  • QIAGEN

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

Disorders associated with RNA Polymerase I Transcription Termination SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Treacher collins syndrome 1EnrichmentPOLR1B, POLR1C, POLR1D8.00
2TrichothiodystrophyEnrichmentERCC2, ERCC3, GTF2H56.00
3Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC34.27
4Cerebrooculofacioskeletal syndrome 1EnrichmentERCC2, ERCC63.76
5Xeroderma pigmentosum, variant typeEnrichmentERCC2, ERCC33.53
6Leukodystrophy, hypomyelinating, 27EnrichmentPOLR1A3.13
7Treacher collins syndrome 4EnrichmentPOLR1B3.13
8Treacher collins syndrome 2EnrichmentPOLR1D3.13
9Treacher collins syndrome 3EnrichmentPOLR1C2.83
10Spinocerebellar ataxia 17EnrichmentTBP2.83
11Leukoencephalopathy, progressive, with ovarian failureEnrichmentPOLR1C2.83
12Leukodystrophy, hypomyelinating, 11EnrichmentPOLR1C2.83
13Acrofacial dysostosis, cincinnati typeEnrichmentPOLR1A2.83
14Burn-mckeown syndromeEnrichmentPOLR1A2.66
15Neurodegeneration, childhood-onset, with brain atrophyEnrichmentUBTF2.66
16Xeroderma pigmentosum, complementation group bEnrichmentERCC32.63
17Xeroderma pigmentosum, complementation group dEnrichmentERCC22.63
18Trichothiodystrophy 2, photosensitiveEnrichmentERCC32.63
19Xeroderma pigmentosum group bEnrichmentERCC32.63
20Cerebrooculofacioskeletal syndrome 2EnrichmentERCC22.63
21Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H52.63
22Lipodystrophy, congenital generalized, type 4EnrichmentCAVIN12.63
23Xeroderma pigmentosum group dEnrichmentERCC22.63
24Spermatogenic failure, x-linked, 9EnrichmentRBBP72.46
25Gand syndromeEnrichmentGATAD2B2.46
26Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B2.46
27Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR1C2.43
28Rare syndromic intellectual disabilityEnrichmentUBTF2.43
29Waardenburg syndrome, type 4cEnrichmentPOLR2F2.33
30Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F2.33
31Sifrim-hitz-weiss syndromeEnrichmentCHD42.16
32Snijders blok-campeau syndromeEnrichmentCHD32.16
33Cockayne syndrome type 3EnrichmentERCC62.16
34Waardenburg syndrome, type 2aEnrichmentPOLR2F2.15
35Trichothiodystrophy 1, photosensitiveEnrichmentERCC22.15
36Wieacker-wolff syndromeEnrichmentCCNH2.15
37Congenital generalized lipodystrophyEnrichmentCAVIN12.03
38CraniopharyngiomaEnrichmentERCC22.03
39De sanctis-cacchione syndromeEnrichmentERCC61.98
40Uv-sensitive syndrome 1EnrichmentERCC61.98
41Uv-sensitive syndromeEnrichmentERCC61.98
42Premature ovarian failure 11EnrichmentERCC61.98
43Capillary malformations, congenitalEnrichmentCCNH1.93
44Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F1.93
45Macular degeneration, age-related, 5EnrichmentERCC61.86
46Parkinson's diseaseEnrichmentTBP1.86
47Klippel-trenaunay-weber syndromeEnrichmentCCNH1.85
48Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH1.85
49Waardenburg syndrome, type 4aEnrichmentPOLR2F1.85
50Hemangioma, capillary infantileEnrichmentCCNH1.85
51Basal cell carcinoma 1EnrichmentCCNH1.85
52Waardenburg syndromeEnrichmentPOLR2F1.85
53Waardenburg syndrome, type 1EnrichmentPOLR2F1.79
54Waardenburg syndrome, type 2eEnrichmentPOLR2F1.79
55Capillary malformation-arteriovenous malformation 1EnrichmentCCNH1.79
56Hereditary hemorrhagic telangiectasiaEnrichmentCCNH1.79
57Cockayne syndrome aEnrichmentERCC61.76
58Parkinson disease, late-onsetEnrichmentTBP1.76
59Cockayne syndrome bEnrichmentERCC61.69
60Inflammatory bowel disease 1EnrichmentERCC21.68
61Arteriovenous malformationEnrichmentCCNH1.68
62Hypotrichosis simplexEnrichmentERCC21.68
63Myopathy, x-linked, with excessive autophagyEnrichmentCCNH1.63
64Ovarian cancerEnrichmentERCC2, ERCC31.63
65Cockayne syndromeEnrichmentERCC61.62
66Corpus callosum, agenesis ofEnrichmentERCC21.46
67Isolated corpus callosum agenesisEnrichmentERCC21.46
68Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentERCC21.46
69Familial isolated dilated cardiomyopathyEnrichmentTAF1A1.42
70LeukodystrophyEnrichmentERCC21.34
71HepatoblastomaEnrichmentERCC21.31
72Kallmann syndromeEnrichmentPOLR2F1.28
73Bladder cancerEnrichmentERCC21.18
74Hirschsprung disease 1EnrichmentPOLR2F1.18
75Lung cancerEnrichmentERCC60.98
76Rare genetic deafnessEnrichmentPOLR2F0.77
77Inherited cancer-predisposing syndromeEnrichmentERCC30.57

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