mRNA Splicing - Minor Pathway

No Pathway Network information available for mRNA Splicing - Minor Pathway

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

Disorders associated with mRNA Splicing - Minor Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Esophageal atresia/tracheoesophageal fistulaEnrichmentEFTUD2, POLR2B2.66
2Acrofacial dysostosis syndrome of rodriguezEnrichmentSF3B42.43
3Orofaciodigital syndrome xxiEnrichmentZRSR22.43
4Retinitis pigmentosa 33EnrichmentSNRNP2002.43
5Mandibulofacial dysostosis, guion-almeida typeEnrichmentEFTUD22.43
6Retinitis pigmentosa 60EnrichmentPRPF62.43
7Pituitary hormone deficiency, combined or isolated, 7EnrichmentRNPC32.43
8Combined or isolated pituitary growth hormone deficiency 7EnrichmentRNPC32.43
9Genetic syndromic pierre robin syndromeEnrichmentEFTUD22.43
10Cerebrocostomandibular syndromeEnrichmentSNRPB2.13
11Acrofacial dysostosis 1, nager typeEnrichmentSF3B42.13
12Retinitis pigmentosa 13EnrichmentPRPF82.13
13Waardenburg syndrome, type 4cEnrichmentPOLR2F2.13
14Hypotrichosis 11EnrichmentSNRPE2.13
15Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentSRSF12.13
16Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F2.13
17Leukemia, acute myeloidEnrichmentSF3B1, SRSF22.02
18Waardenburg syndrome, type 2aEnrichmentPOLR2F1.96
19Burn-mckeown syndromeEnrichmentTXNL4A1.96
20Myelodysplastic syndrome with ring sideroblastsEnrichmentSF3B11.96
21Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.83
22Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentSF3B11.83
23Chronic myelomonocytic leukemiaEnrichmentSRSF21.83
24Systemic mastocytosis with associated hematologic neoplasmEnrichmentSRSF21.83
25Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F1.74
26HoloprosencephalyEnrichmentZRSR21.74
27Aggressive systemic mastocytosisEnrichmentSRSF21.74
28Craniofacial microsomia 1EnrichmentSF3B21.66
29Melanoma, uvealEnrichmentSF3B11.66
30Pierre robin syndromeEnrichmentSNRPB1.66
31Holoprosencephaly 1EnrichmentZRSR21.66
32Waardenburg syndrome, type 4aEnrichmentPOLR2F1.66
33Waardenburg syndromeEnrichmentPOLR2F1.66
34Treacher collins syndrome 1EnrichmentEFTUD21.59
35Waardenburg syndrome, type 1EnrichmentPOLR2F1.59
36Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentDDX231.59
37Waardenburg syndrome, type 2eEnrichmentPOLR2F1.59
38Leukemia, chronic myeloidEnrichmentSF3B11.59
39Isolated growth hormone deficiency, type iaEnrichmentRNPC31.54
40Tracheoesophageal fistula with or without esophageal atresiaEnrichmentEFTUD21.49
41Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentSRSF21.49
42Bilateral perisylvian polymicrogyriaEnrichmentDDX231.49
43Hypotrichosis simplexEnrichmentSNRPE1.49
44Isolated tracheo-esophageal fistulaEnrichmentEFTUD21.44
45Myelodysplastic syndromeEnrichmentSF3B11.40
46Retinitis pigmentosaEnrichmentPRPF6, PRPF8, SNRNP2001.37
47Kallmann syndromeEnrichmentPOLR2F1.09
48Hereditary retinal dystrophyEnrichmentPRPF6, PRPF8, SNRNP2001.04
49Fundus dystrophyEnrichmentPRPF6, PRPF8, SNRNP2001.04
50Hirschsprung disease 1EnrichmentPOLR2F0.99
51Rare genetic deafnessEnrichmentPOLR2F0.60
52Complex neurodevelopmental disorderEnrichmentPRPF80.43

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