COPI-independent Golgi-to-ER retrograde traffic

Pathway network for the COPI-independent Golgi-to-ER retrograde traffic SuperPath

Sources:
  • Reactome
  • GeneGo (Thomson Reuters)

Pathways in the COPI-independent Golgi-to-ER retrograde traffic SuperPath

#NameSourceGenes
1COPI-independent Golgi-to-ER retrograde trafficReactome
2Cell cycle Spindle assembly and chromosome separationGeneGo (Thomson Reuters)
3HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligandReactome
4Cytoskeleton remodeling NeurofilamentsGeneGo (Thomson Reuters)

Gene overlap in member pathways for COPI-independent Golgi-to-ER retrograde traffic SuperPath

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

Disorders associated with COPI-independent Golgi-to-ER retrograde traffic SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1LissencephalyEnrichmentACTG1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3, TUBG111.09
2Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB37.25
3Warburg micro syndrome 1EnrichmentRAB18, RAB3GAP1, RAB3GAP26.65
4TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B6.65
5Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB35.95
6Amyotrophic lateral sclerosis 1EnrichmentDCTN1, NEFH, PRPH5.13
7Spinal muscular atrophy with lower extremity predominantEnrichmentBICD2, DYNC1H14.82
8Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.79
9Cornelia de lange syndrome 1EnrichmentRAD21, SMC1A, SMC34.57
10Cornelia de lange syndromeEnrichmentRAD21, SMC1A, SMC34.57
11Martsolf syndrome 1EnrichmentRAB3GAP1, RAB3GAP23.83
12Auditory neuropathyEnrichmentKIF5A, NEFL, TUBB4A3.81
13Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B3.51
14CryptorchidismEnrichmentRAB3GAP1, TUBA1A3.38
15Cryptorchidism, unilateral or bilateralEnrichmentRAB3GAP1, TUBA1A3.28
16Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B3.28
17Charcot-marie-tooth diseaseEnrichmentDCTN1, DST, NEFL3.22
18Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB13.18
19Wiedemann-steiner syndromeEnrichmentSMC1A, SMC33.15
20Congenital nervous system abnormalityEnrichmentDYNC1H1, PLA2G6, TUBA1A, TUBB4A3.11
21Nervous system diseaseEnrichmentDYNC1H1, PLA2G6, TUBA1A, TUBB4A3.11
22Multiple sclerosisEnrichmentDST, PLEC2.85
23MicrocephalyEnrichmentACTB, ACTG1, STXBP1, TUBB4A2.81
24Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentDCTN1, NEFH, PRPH2.78
25Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentKIF5A, NEFL2.58
26Perry syndromeEnrichmentDCTN12.41
27Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.41
28Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G62.41
29Warburg micro syndrome 2EnrichmentRAB3GAP22.41
30Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.41
31Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.41
32Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G62.41
33Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominantEnrichmentBICD22.41
34Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.41
35Spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominantEnrichmentBICD22.41
36Martsolf syndrome 2EnrichmentRAB3GAP12.41
37Parkinson disease 14, autosomal recessiveEnrichmentPLA2G62.41
38Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN12.41
39Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G62.41
40Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.41
41Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.41
42Congenital disorder of glycosylation, type iitEnrichmentGALNT22.41
43Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.41
44Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.41
45Warburg micro syndrome 3EnrichmentRAB182.41
46Dync1h1-related disordersEnrichmentDYNC1H12.41
47Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.41
48Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.41
49Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I22.41
50Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.41
51Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.41
52Congenital myopathy 26EnrichmentTUBA4A2.41
53Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.41
54Autosomal dominant distal hereditary motor neuronopathyEnrichmentBICD22.41
55Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.41
56Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.41
57Autosomal recessive spastic paraplegia type 69EnrichmentRAB3GAP22.41
58Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.41
59Lissencephaly due to lis1 mutationEnrichmentPAFAH1B12.41
60Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB2.39
61Baraitser-winter syndrome 1EnrichmentACTB2.39
62Spastic paraplegia 10, autosomal dominantEnrichmentKIF5A2.39
63Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB2.39
64Charcot-marie-tooth disease, demyelinating, type 1fEnrichmentNEFL2.39
65Scapuloperoneal syndrome, neurogenic, kaeser typeEnrichmentDES2.39
66Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK52.39
67Charcot-marie-tooth disease, axonal, type 2ccEnrichmentNEFH2.39
68Charcot-marie-tooth disease, dominant intermediate gEnrichmentNEFL2.39
69Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.39
70Myoclonus, intractable, neonatalEnrichmentKIF5A2.39
71Amyotrophic lateral sclerosis 25EnrichmentKIF5A2.39
72Becker nevus syndromeEnrichmentACTB2.39
73Dystonia-deafness syndrome 1EnrichmentACTB2.39
74Charcot-marie-tooth disease type 1fEnrichmentNEFL2.39
75Cortical dysplasia, complex, with other brain malformations 2EnrichmentKIF5C2.39
76Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.39
77Baraitser-winter syndromeEnrichmentACTB2.39
78Charcot-marie-tooth disease type 2b5EnrichmentNEFL2.39
79Congenital smooth muscle hamartomaEnrichmentACTB2.39
80Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.39
81Qualitative or quantitative defects of plectinEnrichmentPLEC2.39
82Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutationEnrichmentKIF5A2.39
83Premature agingEnrichmentVIM2.39
84Prostate cancer, hereditary, x-linked 3EnrichmentAR2.38
85Androgen insensitivity, partialEnrichmentAR2.38
86Glucocorticoid resistance, generalizedEnrichmentNR3C12.38
87Progesterone resistanceEnrichmentPGR2.38
88Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancyEnrichmentNR3C22.38
89Pseudohyperaldosteronism type 2EnrichmentNR3C22.38
90Complete androgen insensitivity syndromeEnrichmentAR2.38
91Semilobar holoprosencephalyEnrichmentSMC1A, STAG22.16
92Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual developmentEnrichmentKIF112.15
93Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A2.15
94Holoprosencephaly 13, x-linkedEnrichmentSTAG22.15
95Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC32.15
96Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD212.15
97Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC202.15
98Mullegama-klein-martinez syndromeEnrichmentSTAG22.15
99Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC72.15
100Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG12.15
101Spondyloepimetaphyseal dysplasia with joint laxity, type 2EnrichmentKIF222.15
102Rothmund-thomson syndrome, type 1EnrichmentANAPC12.15
103Mungan syndromeEnrichmentRAD212.15
104Retinitis pigmentosa 67EnrichmentNEK22.15
105Xq25 microduplication syndromeEnrichmentSTAG22.15
106Spastic paraplegia 88, autosomal dominantEnrichmentKPNA32.15
107Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L12.15
108Infection-induced acute-onset axonal neuropathyEnrichmentRCC12.15
109Peripheral nervous system diseaseEnrichmentKIF5A, NEFL2.13
110NeuropathyEnrichmentKIF5A, NEFL2.13
111Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H12.11
112Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A2.11
113Fanconi anemia, complementation group nEnrichmentDCTN52.11
114Lissencephaly 1EnrichmentPAFAH1B12.11
115Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A2.11
116Pancreatic cancer 3EnrichmentDCTN52.11
117Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I22.11
118Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H12.11
119Keratoconus 9EnrichmentTUBA3D2.11
120Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A2.11
121Lissencephaly 3EnrichmentTUBA1A2.11
122Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB32.11
123Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H12.11
124Intellectual developmental disorder, autosomal dominant 45EnrichmentPAFAH1B32.11
125Torsion dystonia 4EnrichmentTUBB4A2.11
126Distal hereditary motor neuropathy type 7EnrichmentDCTN12.11
127Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G62.11
128Continuous spikes and waves during sleepEnrichmentTUBA1A2.11
129Epidermolysis bullosa simplex 5a, ogna typeEnrichmentPLEC2.09
130Alexander diseaseEnrichmentGFAP2.09
131Epidermolysis bullosa simplex 5b, with muscular dystrophyEnrichmentPLEC2.09
132Hereditary motor and sensory neuropathy, type iicEnrichmentNEFH2.09
133Deafness, autosomal dominant 20EnrichmentACTG12.09
134Baraitser-winter syndrome 2EnrichmentACTG12.09
135Cardiomyopathy, dilated, 1iEnrichmentDES2.09
136Muscular dystrophy, limb-girdle, autosomal recessive 17EnrichmentPLEC2.09
137Spastic paraplegia, intellectual disability, nystagmus, and obesityEnrichmentGFAP2.09
138Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG12.09
139Autosomal recessive limb-girdle muscular dystrophy type 2qEnrichmentPLEC2.09
140Progressive familial heart blockEnrichmentDES2.09
141Cataract 30EnrichmentVIM2.09
142Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentKIF5A2.09
1439q33.3q34.11 microdeletion syndromeEnrichmentSTXBP12.09
144Multiple benign circumferential skin creases on limbsEnrichmentTUBB2.09
145Demyelinating polyneuropathyEnrichmentKIF5A2.09
146Skeletal muscle diseaseEnrichmentKIF5B2.09
147Galactosemia iiEnrichmentNR3C12.08
148Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR2.08
149Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentNR3C22.08
15046,xy sex reversal 1EnrichmentAR2.08
151Androgen insensitivity syndromeEnrichmentAR2.08
152Hypospadias 1, x-linkedEnrichmentAR2.08
153Fibrolamellar carcinomaEnrichmentDNAJB12.08
154Posterior hypospadiasEnrichmentAR2.08
155PseudohypoaldosteronismEnrichmentNR3C22.08
156Cerebral palsyEnrichmentTUBA1A, TUBB4A1.99
157MyopathyEnrichmentBICD2, DYNC1H11.97
158Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.93
159Band heterotopiaEnrichmentPAFAH1B11.93
160Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.93
161Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B11.93
162Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B11.93
163Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.93
164Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.93
165Breast-ovarian cancer, familial 5EnrichmentDCTN51.93
166Distal myopathyEnrichmentBICD21.93
167Muscular atrophyEnrichmentBICD21.93
168Myopathy, myofibrillar, 1EnrichmentDES1.92
169Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiencyEnrichmentDST1.92
170Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessiveEnrichmentPLEC1.92
171West syndromeEnrichmentSTXBP1, TUBA1A1.86
172Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentKIF111.86
173Cornelia de lange syndrome 2EnrichmentSMC1A1.86
174Microcephaly and chorioretinopathy 1EnrichmentKIF111.86
175Spastic paraplegia 37, autosomal dominantEnrichmentKPNA31.86
176Submucosal cleft palateEnrichmentUBB1.86
177Cleft hard palateEnrichmentUBB1.86
178Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentPLEC1.79
179Developmental and epileptic encephalopathy 4EnrichmentSTXBP11.79
180Aminoacylase 1 deficiencyEnrichmentACTB1.79
181Neuropathy, hereditary sensory and autonomic, type viEnrichmentDST1.79
182Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.79
183Spastic ataxiaEnrichmentPLA2G6, TUBB31.74
184Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B11.71
185Congenital ptosisEnrichmentRAB3GAP11.71
186Spinal muscular atrophyEnrichmentDYNC1H11.71
187Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.71
188Genetic motor neuron diseaseEnrichmentDCTN11.71
189Epidermolysis bullosa simplex 2f, with mottled pigmentationEnrichmentPLEC1.70
190Epidermolysis bullosa simplex 1a, generalized severeEnrichmentPLEC1.70
191Kearns-sayre syndromeEnrichmentKIF5B1.70
192Charcot-marie-tooth disease, axonal, type 2eEnrichmentNEFL1.70
193Histiocytoid hemangiomaEnrichmentVIM1.70
1942q23.1 microduplication syndromeEnrichmentKIF5C1.70
195Aplasia cutis congenitaEnrichmentPLEC1.70
196Coloboma of choroid and retinaEnrichmentACTG11.70
197Major depressive disorderEnrichmentFKBP51.68
198Uvula, bifidEnrichmentUBB1.68
199Cleft soft palateEnrichmentUBB1.68
200Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.63
201Early myoclonic encephalopathyEnrichmentTUBA1A1.63
202HypertrichosisEnrichmentRAB3GAP11.63
203Metachromatic leukodystrophyEnrichmentGFAP1.62
204Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentPLEC1.62
205Trichorhinophalangeal syndrome, type iiEnrichmentRAD211.56
206Pregnancy loss, recurrent 1EnrichmentCCNB31.56
207Epidermolysis bullosa simplexEnrichmentPLEC1.55
208Myofibrillar myopathyEnrichmentDES1.55
209Difference of sex developmentEnrichmentAR1.48
210Mosaic variegated aneuploidy syndrome 1EnrichmentMAD1L11.46
211Primary hyperaldosteronismEnrichmentNR3C11.43
212Neurodegeneration with brain iron accumulationEnrichmentPLA2G61.42
213PolymicrogyriaEnrichmentDYNC1H11.42
214Cat eye syndromeEnrichmentACTG11.40
215Cataract 30, multiple typesEnrichmentVIM1.40
216Syndromic rod-cone dystrophyEnrichmentKIF111.38
217Dilated cardiomyopathyEnrichmentDES, KIF5B1.38
218Frontotemporal dementia 1EnrichmentDCTN11.38
219Movement diseaseEnrichmentRAB3GAP11.38
220AsthmaEnrichmentFKBP51.34
22146,xy complete gonadal dysgenesisEnrichmentAR1.34
222Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H11.34
223Congenital hypothyroidismEnrichmentTUBB11.34
224Rett syndrome, congenital variantEnrichmentSMC1A1.26
225Mosaic variegated aneuploidy syndromeEnrichmentMAD1L11.26
226Corpus callosum, agenesis ofEnrichmentTUBA1A1.24
227Isolated corpus callosum agenesisEnrichmentTUBA1A1.24
228Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A1.24
229Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G61.22
230Isolated congenital microcephalyEnrichmentTUBA3E1.22
231Hydrocephalus, congenital, 1EnrichmentTUBB1.20
232Arrhythmogenic right ventricular cardiomyopathyEnrichmentDES1.20
233Cleft palate, isolatedEnrichmentRAB3GAP11.19
234Dandy-walker syndromeEnrichmentTUBA1A1.19
235Cardiomyopathy, dilated, 1eEnrichmentDES1.18
236Charcot-marie-tooth disease type 4EnrichmentDYNC1H11.17
237Neuromuscular diseaseEnrichmentDES1.15
238Esophageal atresia/tracheoesophageal fistulaEnrichmentRAB3GAP21.14
239Autism spectrum disorderEnrichmentDYNC1H1, NR3C21.11
240Attention deficit-hyperactivity disorderEnrichmentKIF5B1.07
241Skin diseaseEnrichmentPLEC1.07
242Acute promyelocytic leukemiaEnrichmentNUMA11.06
243Nk-cell enteropathyEnrichmentAURKB1.06
244ScoliosisEnrichmentGFAP1.03
245StrabismusEnrichmentSTXBP10.98
246Alobar holoprosencephalyEnrichmentSTAG20.95
247Prostate cancerEnrichmentAR0.94
248Cystic fibrosisEnrichmentDCTN40.93
249Colorectal cancerEnrichmentAURKA, DCTN50.91
250Familial hypertrophic cardiomyopathyEnrichmentDES0.90
251CakutEnrichmentACTG10.89
252Male infertilityEnrichmentAR0.87
253Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.87
254Developmental and epileptic encephalopathyEnrichmentSTXBP10.87
255Non-syndromic genetic deafnessEnrichmentACTG10.87
256Distal arthrogryposisEnrichmentBICD20.82
257Hereditary spastic paraplegiaEnrichmentKIF5A0.80
258Nonsyndromic hearing lossEnrichmentACTG10.80
259Optic atrophy plus syndromeEnrichmentTUBB60.80
260Hereditary breast carcinomaEnrichmentDCTN50.80
261Hypertrophic cardiomyopathyEnrichmentKIF5B0.79
262ThrombocytopeniaEnrichmentTUBB10.77
263Sensorineural hearing lossEnrichmentNEFL0.75
264Autosomal dominant non-syndromic intellectual disabilityEnrichmentDYNC1H10.75
265Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.72
266Hereditary breast ovarian cancer syndromeEnrichmentDCTN50.71
267Familial isolated dilated cardiomyopathyEnrichmentDES0.71
268Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR0.68
269AutismEnrichmentSTXBP10.59
270Breast cancerEnrichmentDCTN50.59
271Rare genetic deafnessEnrichmentACTG10.56
272Leber plus diseaseEnrichmentTUBB4B0.51
273Myeloma, multipleEnrichmentAURKA0.49
274Ovarian cancerEnrichmentAR0.46
275Inherited cancer-predisposing syndromeEnrichmentDCTN50.39
276Retinitis pigmentosaEnrichmentKIF11, NEK20.36
277Hereditary retinal dystrophyEnrichmentKIF11, NEK20.22
278Fundus dystrophyEnrichmentKIF11, NEK20.22

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