Regulation of degradation of deltaF508 CFTR in CF

No Pathway Network information available for Regulation of degradation of deltaF508 CFTR in CF

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

Disorders associated with Regulation of degradation of deltaF508 CFTR in CF SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Ceroid lipofuscinosis, neuronal, 4EnrichmentDNAJC52.56
2Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP2.56
3Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB12.56
4Tubulointerstitial kidney disease, autosomal dominant 5EnrichmentSEC61A12.56
5Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP2.56
6Multisystem proteinopathyEnrichmentVCP2.56
7Neutropenia, severe congenital, 11, autosomal dominantEnrichmentSEC61A12.56
8Adult-onset distal myopathy due to vcp mutationEnrichmentVCP2.56
9Aquagenic palmoplantar keratodermaEnrichmentCFTR2.56
10Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC62.33
11Even-plus syndromeEnrichmentHSPA92.33
12Anemia, sideroblastic, 4EnrichmentHSPA92.33
13Cataract 9, multiple typesEnrichmentCRYAA2.33
14Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB12.33
15Dync1h1-related disordersEnrichmentDYNC1H12.33
16Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I22.33
17Spermatogenic failure, y-linked, 2EnrichmentCFTR2.26
18Vexas syndromeEnrichmentUBA12.26
19Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP2.26
20Immunodeficiency, common variable, 15EnrichmentSEC61A12.26
21Spinocerebellar ataxia 48EnrichmentSTUB12.26
22Spinal muscular atrophy, x-linked 2EnrichmentUBA12.26
23Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB42.26
24Submucosal cleft palateEnrichmentUBB2.26
25Cleft hard palateEnrichmentUBB2.26
26Spastic paraplegia-paget disease of bone syndromeEnrichmentVCP2.26
27Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB42.09
28Uvula, bifidEnrichmentUBB2.09
29Nuchal bleb, familialEnrichmentCFTR2.09
30Cleft soft palateEnrichmentUBB2.09
31Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP2.09
32Proteosome-associated autoinflammatory syndromeEnrichmentPSMB42.09
33Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H12.03
34Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB12.03
35Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I22.03
36Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H12.03
37Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H12.03
38Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H12.03
39Autosomal recessive sideroblastic anemiaEnrichmentHSPA92.03
40Spastic paraplegia 89, autosomal recessiveEnrichmentAMFR2.03
41Idiopathic bronchiectasisEnrichmentCFTR1.96
42Dementia, lewy bodyEnrichmentVCP1.87
43Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP1.87
44Charcot-marie-tooth diseaseEnrichmentDYNC1H1, HSPB11.81
45Machado-joseph diseaseEnrichmentATXN31.79
46Spinocerebellar ataxia, autosomal recessive 16EnrichmentSTUB11.79
47Early-onset anterior polar cataractEnrichmentCRYAA1.73
48Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB11.64
49Spinal muscular atrophyEnrichmentDYNC1H11.64
50Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR1.61
51Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR1.61
52Progressive non-fluent aphasiaEnrichmentVCP1.61
53Behavioral variant of frontotemporal dementiaEnrichmentVCP1.61
54Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentVCP1.57
55Digeorge syndromeEnrichmentUFD11.49
56Alzheimer's diseaseEnrichmentVCP1.46
57Cataract - microcornea syndromeEnrichmentCRYAA1.44
58Hereditary chronic pancreatitisEnrichmentCFTR1.43
59Neuronal ceroid lipofuscinosisEnrichmentDNAJC51.40
60Lynch syndromeEnrichmentCFTR1.40
61Alzheimer disease, familial, 1EnrichmentVCP1.34
62Pancreatitis, hereditaryEnrichmentCFTR1.34
63Polycystic liver diseaseEnrichmentSEC61A11.34
64Autosomal dominant polycystic liver diseaseEnrichmentSEC61A11.34
65PolymicrogyriaEnrichmentDYNC1H11.34
66Early-onset lamellar cataractEnrichmentCRYAA1.30
67Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentVCP1.30
68Parkinson's diseaseEnrichmentATXN31.30
69Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H11.26
70Myocardial infarctionEnrichmentPSMA61.23
71Parkinson disease, late-onsetEnrichmentATXN31.20
72Cataract 44EnrichmentCRYAA1.12
73Charcot-marie-tooth disease type 4EnrichmentDYNC1H11.09
74Early-onset nuclear cataractEnrichmentCRYAA1.09
75Cystic fibrosisEnrichmentCFTR1.08
76Male infertilityEnrichmentCFTR1.05
77LissencephalyEnrichmentDYNC1H11.03
78Peripheral nervous system diseaseEnrichmentDYNC1H10.86
79NeuropathyEnrichmentDYNC1H10.86
80Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentCFTR0.85
81Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentVCP0.83
82Eye diseaseEnrichmentCRYAA0.82
83MyopathyEnrichmentDYNC1H10.77
84Autosomal dominant non-syndromic intellectual disabilityEnrichmentDYNC1H10.68
85Congenital nervous system abnormalityEnrichmentDYNC1H10.41
86Nervous system diseaseEnrichmentDYNC1H10.41
87Autism spectrum disorderEnrichmentDYNC1H10.40
88MicrocephalyEnrichmentDYNC1H10.36

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