Ubiquitin-Proteasome Dependent Proteolysis

No Pathway Network information available for Ubiquitin-Proteasome Dependent Proteolysis

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

Disorders associated with Ubiquitin-Proteasome Dependent Proteolysis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Primary hyperaldosteronismEnrichmentUSP48, USP82.54
2Spermatogenic failure, x-linked, 6EnrichmentUSP262.04
3Intellectual developmental disorder, x-linked 99EnrichmentUSP9X2.04
4Johanson-blizzard syndromeEnrichmentUBR12.04
5Spastic paraplegia and psychomotor retardation with or without seizuresEnrichmentHACE12.04
6Fanconi anemia, complementation group tEnrichmentUBE2T2.04
7Kaufman oculocerebrofacial syndromeEnrichmentUBE3B2.04
8Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB12.04
9Intellectual developmental disorder, x-linked, syndromic, nascimento typeEnrichmentUBE2A2.04
10Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X2.04
11Syndromic x-linked intellectual disability nascimento typeEnrichmentUBE2A2.04
12Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC32.04
13Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH2.04
14Deafness, autosomal dominant 85EnrichmentUSP482.04
15Cardiac, facial, and digital anomalies with developmental delayEnrichmentTRAF72.04
16Cholestasis, progressive familial intrahepatic, 7, with or without hearing lossEnrichmentUSP532.04
17Neurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesEnrichmentUBE3C2.04
18Pseudo-torch syndrome 2EnrichmentUSP182.04
19Spastic paraplegia-severe developmental delay-epilepsy syndromeEnrichmentHACE12.04
20Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X2.04
21Autosomal recessive spastic paraplegia type 59EnrichmentUSP82.04
22Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH2.04
23Epilepsy, idiopathic generalized 19EnrichmentUSP252.04
24Neurodevelopmental disorder with speech delay and behavioral abnormalitiesEnrichmentUBR52.04
25Traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndromeEnrichmentTRAF72.04
2615q11q13 microduplication syndromeEnrichmentUBE3A2.04
27Pituitary adenoma 4, acth-secretingEnrichmentUSP81.74
28Spermatogenic failure, y-linked, 2EnrichmentUSP9Y1.74
29Vexas syndromeEnrichmentUBA11.74
30Spinocerebellar ataxia, autosomal recessive 24EnrichmentUBA51.74
31Neurodevelopmental disorder with hypotonia, seizures, and absent languageEnrichmentHECW21.74
32Birk-aharoni syndromeEnrichmentPSMC11.74
33Spondyloepiphyseal dysplasia, nishimura typeEnrichmentWWP21.74
34Spinocerebellar ataxia 48EnrichmentSTUB11.74
35Spinal muscular atrophy, x-linked 2EnrichmentUBA11.74
36Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.74
37Pseudosarcomatous fibromatosisEnrichmentUSP61.74
38Hao-fountain syndromeEnrichmentUSP71.74
39Chromosome 2p16.1-p15 deletion syndromeEnrichmentUSP341.74
40Blepharophimosis - intellectual disability syndromeEnrichmentUBE3B1.74
41BronchiectasisEnrichmentUSP111.74
42Multifocal pattern dystrophy simulating fundus flavimaculatusEnrichmentUBR21.74
43Angelman syndrome due to maternal 15q11q13 deletionEnrichmentUBE3A1.74
44Submucosal cleft palateEnrichmentUBB1.74
45Cleft hard palateEnrichmentUBB1.74
46Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.57
47Uvula, bifidEnrichmentUBB1.57
48Cleft soft palateEnrichmentUBB1.57
49Developmental and epileptic encephalopathy 44EnrichmentUBA51.57
50Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.57
51CholestasisEnrichmentUSP531.57
52Thyroid hemiagenesisEnrichmentPSMD31.57
53Angelman syndrome due to imprinting defect in 15q11-q13EnrichmentUBE3A1.57
54Hyperpigmentation of the skinEnrichmentUSP9X1.57
55Variegate porphyriaEnrichmentUSP211.35
56Angelman syndromeEnrichmentUBE3A1.27
57Developmental dysplasia of the hip 1EnrichmentPSMC31.27
58Spinocerebellar ataxia, autosomal recessive 16EnrichmentSTUB11.27
59Patent ductus arteriosusEnrichmentPSMC31.27
60Progressive familial intrahepatic cholestasisEnrichmentUSP531.21
61NeuroblastomaEnrichmentHACE11.15
62Chromosome y microdeletion syndromeEnrichmentUSP9Y1.15
63PolymicrogyriaEnrichmentPSMC31.06
64MeningiomaEnrichmentTRAF70.98
65Patent foramen ovaleEnrichmentPSMC30.82
66Myocardial infarctionEnrichmentPSMA60.74
67Non-syndromic male infertility due to sperm motility disorderEnrichmentUSP260.72
68Male infertilityEnrichmentUSP260.57
69Fanconi anemia, complementation group aEnrichmentUBE2T0.56
70Non-syndromic x-linked intellectual disabilityEnrichmentUSP9X0.55
71Developmental and epileptic encephalopathyEnrichmentUBA50.55
72Systemic lupus erythematosusEnrichmentUBE2L30.52
73Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentUSP480.42
74Undetermined early-onset epileptic encephalopathyEnrichmentUBA50.40
75Congenital nervous system abnormalityEnrichmentHECW20.21
76Nervous system diseaseEnrichmentHECW20.21
77MicrocephalyEnrichmentPSMC30.17
78Hereditary retinal dystrophyEnrichmentUBR20.03
79Fundus dystrophyEnrichmentUBR20.03

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