trans-Golgi Network Vesicle Budding

Pathway network for the trans-Golgi Network Vesicle Budding SuperPath

Sources:
  • Reactome

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

Disorders associated with trans-Golgi Network Vesicle Budding SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Severe intellectual disability and progressive spastic paraplegiaEnrichmentAP4B1, AP4E1, AP4M1, AP4S110.15
2Hermansky-pudlak syndrome due to bloc-1 deficiencyEnrichmentBLOC1S3, BLOC1S6, DTNBP16.58
3Hermansky-pudlak syndromeEnrichmentAP3B1, BLOC1S3, BLOC1S6, DTNBP16.46
4Hermansky-pudlak syndrome 1EnrichmentAP3B1, BLOC1S3, BLOC1S6, DTNBP16.34
5Mednik syndromeEnrichmentAP1B1, AP1S14.71
6Congenital nervous system abnormalityEnrichmentAP4B1, AP4E1, AP4M12.60
7Nervous system diseaseEnrichmentAP4B1, AP4E1, AP4M12.60
8Keratitis-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentAP1B12.59
9Parkinson disease 19a, juvenile-onsetEnrichmentDNAJC62.59
10Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM22.59
11Mucopolysaccharidosis, type iiidEnrichmentGNS2.59
12StutteringEnrichmentAP4E12.59
13Hereditary spastic paraplegia 51EnrichmentAP4E12.59
14Usmani-riazuddin syndrome, autosomal recessiveEnrichmentAP1G12.59
15Cerebral amyloid angiopathy, app-relatedEnrichmentAPP2.59
16Lethal congenital contracture syndrome 5EnrichmentDNM22.59
17Psoriasis 15, pustularEnrichmentAP1S32.59
18Spastic paraplegia 51, autosomal recessiveEnrichmentAP4E12.59
19Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP22.59
20Spastic paraplegia 52, autosomal recessiveEnrichmentAP4S12.59
21Usmani-riazuddin syndrome, autosomal dominantEnrichmentAP1G12.59
22Autoinflammatory-pancytopenia syndromeEnrichmentDNASE22.59
23Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM22.59
24Neurodegeneration with brain iron accumulation 3EnrichmentFTL2.38
25Low density lipoprotein cholesterol level quantitative trait locus 6EnrichmentSORT12.38
26Hermansky-pudlak syndrome 9EnrichmentBLOC1S62.38
27Hermansky-pudlak syndrome 8EnrichmentBLOC1S32.38
28Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphismEnrichmentPUM12.38
29Nephrotic syndrome, type 20EnrichmentTBC1D8B2.38
30Oculoskeletodental syndromeEnrichmentPIK3C2A2.38
31Lowe oculocerebrorenal syndromeEnrichmentOCRL2.38
32Hermansky-pudlak syndrome 7EnrichmentDTNBP12.38
33Immunodeficiency 46EnrichmentTFRC2.38
34L-ferritin deficiencyEnrichmentFTL2.38
35Cerebellar ataxia type 47EnrichmentPUM12.38
36Hermansky-pudlak syndrome due to ap3b1 deficiencyEnrichmentAP3B12.38
37Genetic hyperferritinemia without iron overloadEnrichmentFTL2.38
38Oculocerebrodental syndromeEnrichmentPIK3C2A2.38
39Pum1-related cerebellar ataxiaEnrichmentPUM12.38
40Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP2.29
41Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC62.29
42Psoriasis 14, pustularEnrichmentAP1S32.29
43Periventricular nodular heterotopia 8EnrichmentARF12.29
44Pettigrew syndromeEnrichmentAP1S22.29
45Congenital disorder of glycosylation, type igEnrichmentAP4E12.29
46Hereditary spastic paraplegiaEnrichmentAP4B1, AP4M12.28
47Charcot-marie-tooth disease, axonal, type 2ggEnrichmentGBF12.28
48Deafness, autosomal recessive 123EnrichmentSTX42.28
49Myopathy, centronuclear, x-linkedEnrichmentDNM22.11
50Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC2.11
51Spastic paraplegia 50, autosomal recessiveEnrichmentAP4M12.11
52Atypical juvenile parkinsonismEnrichmentDNAJC62.11
53VitreoretinochoroidopathyEnrichmentFTH12.08
54Dent disease 2EnrichmentOCRL2.08
55Retinitis pigmentosa 50EnrichmentFTH12.08
56Developmental and epileptic encephalopathy 21EnrichmentNECAP12.08
57Hyperferritinemia with or without cataractEnrichmentFTL2.08
58Hermansky-pudlak syndrome 2EnrichmentAP3B12.08
59Hemochromatosis, type 5EnrichmentFTH12.08
60Neurodegeneration with brain iron accumulation 9EnrichmentFTH12.08
61Spastic paraplegia 47, autosomal recessiveEnrichmentAP4B11.99
62Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.99
63Cataract 11, multiple typesEnrichmentGBF11.98
64Anterior segment dysgenesis 1EnrichmentGBF11.98
65Dent diseaseEnrichmentOCRL1.91
66Myopathy, centronuclear, 1EnrichmentDNM21.81
67Inflammatory myofibroblastic tumorEnrichmentCLTC1.81
68Mucopolysaccharidosis iiiEnrichmentGNS1.81
69Bestrophinopathy, autosomal recessiveEnrichmentFTH11.78
70Noonan syndrome 3EnrichmentCLTC1.75
71Alzheimer's disease 1EnrichmentAPP1.75
72Renal cell carcinoma with mit translocationsEnrichmentCLTC1.75
73Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP1.75
74Macular dystrophy, vitelliform, 2EnrichmentFTH11.69
75Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, NECAP11.65
76Tracheoesophageal fistula with or without esophageal atresiaEnrichmentAP1G21.64
77Isolated tracheo-esophageal fistulaEnrichmentAP1G21.59
78Early-onset parkinson's diseaseEnrichmentDNAJC61.52
79Alzheimer's diseaseEnrichmentAPP1.48
80Periventricular nodular heterotopiaEnrichmentARF11.45
8146,xy partial gonadal dysgenesisEnrichmentVAMP71.45
82Alzheimer disease, familial, 1EnrichmentAPP1.37
83Combined immunodeficiencyEnrichmentTFRC1.35
84Combined t cell and b cell immunodeficiencyEnrichmentTFRC1.35
85Combined t and b cell immunodeficiencyEnrichmentTFRC1.35
86Esophageal atresia/tracheoesophageal fistulaEnrichmentAP1G21.32
87Centronuclear myopathyEnrichmentDNM21.28
88Hepatocellular carcinomaEnrichmentIGF2R1.06
89Precursor t-cell acute lymphoblastic leukemiaEnrichmentPICALM1.04
90Autoinflammatory diseaseEnrichmentAP3B11.02
91MyopathyEnrichmentDNM21.01
92Charcot-marie-tooth diseaseEnrichmentDNM21.00
93Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC0.92
94Genetic steroid-resistant nephrotic syndromeEnrichmentTBC1D8B0.88
95Leukemia, acute myeloidEnrichmentPICALM0.82
96Nephrotic syndromeEnrichmentTBC1D8B0.79
97Spastic ataxiaEnrichmentPUM10.71
98Primary ovarian insufficiencyEnrichmentIGF2R0.66
99Sensorineural hearing lossEnrichmentSTX40.65
100MicrocephalyEnrichmentAP4M10.56
101Complex neurodevelopmental disorderEnrichmentAP1G10.56
102Hereditary retinal dystrophyEnrichmentFTH10.15
103Fundus dystrophyEnrichmentFTH10.15

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