Golgi-to-ER retrograde transport

Pathway network for the Golgi-to-ER retrograde transport SuperPath

Sources:
  • Reactome

Pathways in the Golgi-to-ER retrograde transport SuperPath

#NameSourceGenes
1Golgi-to-ER retrograde transportReactome
2Intra-Golgi and retrograde Golgi-to-ER trafficReactome
3Factors involved in megakaryocyte development and platelet productionReactome
4MHC class II antigen presentationReactome
5COPI-dependent Golgi-to-ER retrograde trafficReactome
6KinesinsReactome

Gene overlap in member pathways for Golgi-to-ER retrograde transport SuperPath

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

Disorders associated with Golgi-to-ER retrograde transport SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Congenital fibrosis of the extraocular musclesEnrichmentKIF21A, TUBA1A, TUBB2B, TUBB38.26
2LissencephalyEnrichmentDYNC1H1, PAFAH1B1, TUBA1A, TUBA3E, TUBB2B, TUBB37.40
3Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB37.06
4TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B6.46
5Delta beta-thalassemiaEnrichmentHBB, HBD, HBG15.71
6Warburg micro syndrome 1EnrichmentRAB18, RAB3GAP1, RAB3GAP25.43
7Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeEnrichmentHBB, HBG1, HBG25.12
8Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentHBB, HBG1, HBG24.72
9Anemia, congenital dyserythropoietic, type iiiaEnrichmentKIF23, RACGAP14.70
10Narcolepsy 1EnrichmentCTSH, HLA-DQB1, HLA-DRB14.37
11Infantile liver failure syndromeEnrichmentNBAS, RINT14.27
12Essential thrombocythemiaEnrichmentJAK2, SH2B3, TP534.19
13Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB14.07
14Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB14.07
15Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB14.07
16Spinal muscular atrophy with lower extremity predominantEnrichmentBICD2, DYNC1H14.01
17Glioma susceptibility 1EnrichmentH3-3A, H3C1, TP533.99
18Fetal hemoglobin quantitative trait locus 1EnrichmentHBB, HBG1, HBG23.99
19Multisystem inflammatory syndrome in childrenEnrichmentIFNA21, IFNA4, IFNA6, IFNB13.84
20Acute basophilic leukemiaEnrichmentGATA1, MYB3.81
21Hemoglobin lepore-beta-thalassemia syndromeEnrichmentHBB, HBD3.81
22Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.81
23Sickle cell s-lepore diseaseEnrichmentHBB, HBD3.81
24MicrocephalyEnrichmentARF3, COPB1, DYNC1H1, KIF11, KIF23, PLA2G6, TUBB4A3.67
25Mednik syndromeEnrichmentAP1B1, AP1S13.59
26Tetralogy of fallotEnrichmentGATA4, GATA5, GATA6, ZFPM23.54
27Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B3.39
28Idiopathic achalasiaEnrichmentHLA-DQA1, HLA-DQB13.29
29Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B3.15
30Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB13.08
31Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB13.06
32Hereditary spastic paraplegiaEnrichmentKIF1A, KIF1C, KIF5A3.06
33Erythrocytosis, familial, 1EnrichmentJAK2, SH2B33.04
34Martsolf syndrome 1EnrichmentRAB3GAP1, RAB3GAP23.02
35Granulomatosis with polyangiitisEnrichmentHLA-DPA1, HLA-DPB12.90
36Congenital heart defects, multiple types, 4EnrichmentGATA4, GATA62.82
37Acute megakaryocytic leukemiaEnrichmentGATA1, TP532.82
38Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentKIF1A, KIF5A, MFN22.79
39Spastic ataxiaEnrichmentKIF1A, KIF1C, TUBB32.76
40Conotruncal heart malformationsEnrichmentGATA6, ZFPM22.64
41Adrenocortical carcinomaEnrichmentPRKAR1A, TP532.64
42CryptorchidismEnrichmentRAB3GAP1, TUBA1A2.58
43MyelofibrosisEnrichmentJAK2, SH2B32.50
44B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, TP532.50
45Familial atrial fibrillationEnrichmentGATA4, GATA5, GATA62.49
46Cryptorchidism, unilateral or bilateralEnrichmentRAB3GAP1, TUBA1A2.48
47Auditory neuropathyEnrichmentKIF5A, MFN2, TUBB4A2.39
48Fibrosis of extraocular muscles, congenital, 1EnrichmentKIF21A2.35
49Charcot-marie-tooth disease, axonal, type 2a1EnrichmentKIF1B2.35
50Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual developmentEnrichmentKIF112.35
51Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.35
52Intellectual developmental disorder, x-linked 100EnrichmentKIF4A2.35
53Spastic paraplegia 10, autosomal dominantEnrichmentKIF5A2.35
54Taurodontism, microdontia, and dens invaginatusEnrichmentKIF4A2.35
55Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.35
56Neuroblastoma 1EnrichmentKIF1B2.35
57Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A2.35
58Cardiomyopathy, familial restrictive, 6EnrichmentKIF20A2.35
59Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.35
60Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.35
61Myoclonus, intractable, neonatalEnrichmentKIF5A2.35
62Cortical dysplasia, complex, with other brain malformations 11EnrichmentKIF26A2.35
63Cholestasis, progressive familial intrahepatic, 8EnrichmentKIF122.35
64Spondyloepimetaphyseal dysplasia with joint laxity, type 2EnrichmentKIF222.35
65Amyotrophic lateral sclerosis 25EnrichmentKIF5A2.35
66Ocular motility diseaseEnrichmentKIF21A2.35
67Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.35
68Charcot-marie-tooth disease type 2a1EnrichmentKIF1B2.35
69Retinitis pigmentosa 89EnrichmentKIF3B2.35
70Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.35
71Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.35
72Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE2.35
73Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.35
74Spastic paraplegia 30b, autosomal recessiveEnrichmentKIF1A2.35
75Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.35
76Braddock-carey syndrome 2EnrichmentKIF152.35
77Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.35
78Congenital myopathy 26EnrichmentTUBA4A2.35
79Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.35
80Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.35
81Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyEnrichmentKLC42.35
8221q22.11q22.12 microdeletion syndromeEnrichmentKIF152.35
83Congenital dyserythropoietic anemia type iiibEnrichmentRACGAP12.35
84Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.35
85Anemia, congenital dyserythropoietic, type iiib, autosomal recessiveEnrichmentRACGAP12.35
86Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutationEnrichmentKIF5A2.35
87Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.28
88Charcot-marie-tooth diseaseEnrichmentDCTN1, DNM2, DYNC1H12.19
89Autosomal dominant non-syndromic intellectual disabilityEnrichmentARF3, CUX1, DYNC1H1, KIF1A2.18
90Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB12.14
91Osteoporosis, childhood- or juvenile-onset, with developmental delayEnrichmentCOPB22.13
92Developmental and epileptic encephalopathy 107EnrichmentNAPB2.13
93Microcephaly 19, primary, autosomal recessiveEnrichmentCOPB22.13
94Charcot-marie-tooth disease, axonal, type 2ggEnrichmentGBF12.13
95Infantile liver failure syndrome 3EnrichmentRINT12.13
96Short stature-micrognathia syndromeEnrichmentARCN12.13
97Autoinflammation and autoimmunity, systemic, with immune dysregulationEnrichmentCOPA2.13
98Baralle-macken syndromeEnrichmentCOPB12.13
99Immunodeficiency 128EnrichmentCOPG12.13
100Spondyloepiphyseal dysplasia, holling typeEnrichmentBNIP12.13
101Myelodysplastic syndromeEnrichmentGATA2, TP532.10
102Neuronal ceroid lipofuscinosisEnrichmentCTSD, CTSF2.08
103Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A2.05
104Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentKIF112.05
105Spastic paraplegia, optic atrophy, and neuropathyEnrichmentKLC22.05
106Melanoma, cutaneous malignant 6EnrichmentKLC12.05
107Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A2.05
108Nescav syndromeEnrichmentKIF1A2.05
109Peho syndromeEnrichmentKIF1A2.05
110Keratoconus 9EnrichmentTUBA3D2.05
111Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A2.05
112Spastic paraplegia 30a, autosomal dominantEnrichmentKIF1A2.05
113Microcephaly and chorioretinopathy 1EnrichmentKIF112.05
114Lissencephaly 3EnrichmentTUBA1A2.05
115Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentKIF5A2.05
116Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB32.05
117Neuropathy, hereditary sensory, type iicEnrichmentKIF1A2.05
118Torsion dystonia 4EnrichmentTUBB4A2.05
119Hereditary spastic paraplegia 30EnrichmentKIF1A2.05
120Demyelinating polyneuropathyEnrichmentKIF5A2.05
121Skeletal muscle diseaseEnrichmentKIF5B2.05
122Continuous spikes and waves during sleepEnrichmentTUBA1A2.05
123Keratolytic winter erythemaEnrichmentCTSB2.03
124Perry syndromeEnrichmentDCTN12.03
125Keratitis-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentAP1B12.03
126Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S12.03
127Spinocerebellar ataxia 5EnrichmentSPTBN22.03
128PycnodysostosisEnrichmentCTSK2.03
129Craniolenticulosutural dysplasiaEnrichmentSEC23A2.03
130Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM22.03
131Ceroid lipofuscinosis, neuronal, 10EnrichmentCTSD2.03
132Cole-carpenter syndrome 2EnrichmentSEC24D2.03
133Ceroid lipofuscinosis, neuronal, 13EnrichmentCTSF2.03
134Halperin-birk syndromeEnrichmentSEC31A2.03
135Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A2.03
136Charcot-marie-tooth disease type 2bEnrichmentRAB7A2.03
137Spinocerebellar ataxia, autosomal recessive 14EnrichmentSPTBN22.03
138Usmani-riazuddin syndrome, autosomal recessiveEnrichmentAP1G12.03
139Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB12.03
140Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN12.03
141Lethal congenital contracture syndrome 5EnrichmentDNM22.03
142Psoriasis 15, pustularEnrichmentAP1S32.03
143Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA2.03
144Dync1h1-related disordersEnrichmentDYNC1H12.03
145Usmani-riazuddin syndrome, autosomal dominantEnrichmentAP1G12.03
146BerylliosisEnrichmentHLA-DPB12.03
147Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I22.03
148Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM22.03
149Cathepsin a-related arteriopathy-strokes-leukoencephalopathyEnrichmentCTSA2.03
150Lip and oral cavity carcinomaEnrichmentABL1, TP532.02
151Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G62.01
152Warburg micro syndrome 2EnrichmentRAB3GAP22.01
153Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G62.01
154Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominantEnrichmentBICD22.01
155Spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominantEnrichmentBICD22.01
156Martsolf syndrome 2EnrichmentRAB3GAP12.01
157Parkinson disease 14, autosomal recessiveEnrichmentPLA2G62.01
158Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G62.01
159Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.01
160Congenital disorder of glycosylation, type iitEnrichmentGALNT22.01
161Warburg micro syndrome 3EnrichmentRAB182.01
162Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.01
163Autosomal dominant distal hereditary motor neuronopathyEnrichmentBICD22.01
164Autosomal recessive spastic paraplegia type 69EnrichmentRAB3GAP22.01
165Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.01
166Lissencephaly due to lis1 mutationEnrichmentPAFAH1B12.01
167Diaphragmatic hernia, congenitalEnrichmentGATA6, ZFPM21.95
168Protein-deficiency anemiaEnrichmentGATA1, HBB1.95
169Fetal akinesia deformation sequence 1EnrichmentKIF21A, TUBA1A1.92
170Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.90
171Baraitser-winter syndrome 1EnrichmentACTB1.90
172Anemia, congenital, nonspherocytic hemolytic, 9EnrichmentGATA11.90
173Thrombocytopenia, x-linked, with or without dyserythropoietic anemiaEnrichmentGATA11.90
174Autoinflammatory disease, multisystem, with immune dysregulation, x-linkedEnrichmentDOCK111.90
175Thrombocytopenia with beta-thalassemia, x-linkedEnrichmentGATA11.90
176Carney complex, type 1EnrichmentPRKAR1A1.90
177Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK51.90
178Atrioventricular septal defect 4EnrichmentGATA41.90
179Atrioventricular septal defect 5EnrichmentGATA61.90
180Congenital heart defects, multiple types, 5EnrichmentGATA51.90
181Bone marrow failure syndrome 5EnrichmentTP531.90
182Anemia, x-linked, with or without neutropenia and/or platelet abnormalitiesEnrichmentGATA11.90
183Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.90
184Lymphedema, primary, with myelodysplasiaEnrichmentGATA21.90
185Papilloma of choroid plexusEnrichmentTP531.90
186Basal cell carcinoma 7EnrichmentTP531.90
187Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalitiesEnrichmentRBSN1.90
188Anaplastic thyroid carcinomaEnrichmentTP531.90
189Cardioacrofacial dysplasia 2EnrichmentPRKACB1.90
190Myxoma, intracardiacEnrichmentPRKAR1A1.90
191Multiple symmetric lipomatosisEnrichmentMFN21.90
192Immunodeficiency 40EnrichmentDOCK21.90
193Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2aEnrichmentMFN21.90
194Becker nevus syndromeEnrichmentACTB1.90
195Dystonia-deafness syndrome 1EnrichmentACTB1.90
196Atrial septal defect 2EnrichmentGATA41.90
197Immunodeficiency 21EnrichmentGATA21.90
198Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizuresEnrichmentPHF21A1.90
199Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A1.90
200Testicular anomalies with or without congenital heart diseaseEnrichmentGATA41.90
201Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.90
202Ductal carcinoma in situEnrichmentTP531.90
203Atrial septal defect 9EnrichmentGATA61.90
204Neutropenia, severe congenital, 5, autosomal recessiveEnrichmentVPS451.90
205Cardioacrofacial dysplasia 1EnrichmentPRKACA1.90
2068p23.1 microdeletion syndromeEnrichmentGATA41.90
207Takenouchi-kosaki syndromeEnrichmentCDC421.90
208Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.90
209Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2bEnrichmentMFN21.90
210Deafness-lymphedema-leukemia syndromeEnrichmentGATA21.90
211Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.90
212Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxiaEnrichmentDOCK31.90
213Sickle cell-beta-thalassemia disease syndromeEnrichmentHBB1.90
214Thyroid gland undifferentiated carcinomaEnrichmentTP531.90
215Acute megakaryoblastic leukemia in children with down syndromeEnrichmentGATA11.90
216Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.90
217Baraitser-winter syndromeEnrichmentACTB1.90
218Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A1.90
219Charcot-marie-tooth disease type 5EnrichmentMFN21.90
220Thrombocytopenia with congenital dyserythropoietic anemiaEnrichmentGATA11.90
221Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.90
222Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.90
223Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.90
224Hemoglobin c-beta-thalassemia syndromeEnrichmentHBB1.90
225Kariminejad neurodevelopmental syndromeEnrichmentRBSN1.90
226Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A1.90
227Choroid plexus cancerEnrichmentTP531.90
228Charcot-marie-tooth disease type 2a2bEnrichmentMFN21.90
229Central nervous system germinomaEnrichmentJMJD1C1.90
230Severe congenital neutropenia 5EnrichmentVPS451.90
231Sickle cell s-o arab diseaseEnrichmentHBB1.90
232Congenital smooth muscle hamartomaEnrichmentACTB1.90
233Sickle cell-beta zero-thalassemiaEnrichmentHBB1.90
234Nocarh syndromeEnrichmentCDC421.90
235Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA41.90
236Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.90
237Growth retardation-mild developmental delay-chronic hepatitis syndromeEnrichmentSH2B31.90
238Pleomorphic xanthoastrocytomaEnrichmentTP531.90
239Sickle cell s-d punjab diseaseEnrichmentHBB1.90
240Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.90
241Sickle cell s-c diseaseEnrichmentHBB1.90
242Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiencyEnrichmentSH2B11.90
243Hemoglobinopathy toms riverEnrichmentHBG21.90
244Sickle cell s-e diseaseEnrichmentHBB1.90
245Temporomandibular joint anomalyEnrichmentDOCK11.90
246Homozygous hemoglobin o arab diseaseEnrichmentHBB1.90
247Sickle cell s-other specified hemoglobin variantEnrichmentHBB1.90
248Cerebral palsyEnrichmentMFN2, TUBA1A, TUBB4A1.90
249Heart diseaseEnrichmentABL1, GATA41.89
25046,xy partial gonadal dysgenesisEnrichmentGATA4, ZFPM21.89
251Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.87
252Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.87
253Spastic ataxia 2, autosomal recessiveEnrichmentKIF1C1.87
254Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.87
255Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.87
256Spastic ataxia 2EnrichmentKIF1C1.87
257Leukemia, acute myeloidEnrichmentGATA2, JAK2, TP531.87
258Amyotrophy, hereditary neuralgicEnrichmentNAPB1.83
259Cataract 11, multiple typesEnrichmentGBF11.83
260Anterior segment dysgenesis 1EnrichmentGBF11.83
261Short stature, optic nerve atrophy, and pelger-huet anomalyEnrichmentNBAS1.83
262Osteogenesis imperfecta, type xxiEnrichmentKDELR21.83
263Periventricular nodular heterotopia 8EnrichmentARF11.83
264Developmental and epileptic encephalopathy 96EnrichmentNSF1.83
265Infantile liver failure syndrome 2EnrichmentNBAS1.83
266Achondrogenesis, type iaEnrichmentTRIP111.82
267Congenital disorder of glycosylation, type iilEnrichmentCOG61.82
268Odontochondrodysplasia 1EnrichmentTRIP111.82
269Congenital disorder of glycosylation, type iijEnrichmentCOG41.82
270Congenital disorder of glycosylation, type iiqEnrichmentCOG21.82
271Saul-wilson syndromeEnrichmentCOG41.82
272Congenital disorder of glycosylation, type iiaaEnrichmentSTX51.82
273Shaheen syndromeEnrichmentCOG61.82
274Cog4-congenital disorder of glycosylationEnrichmentCOG41.82
275Pontocerebellar hypoplasia, type 13EnrichmentVPS511.82
276Congenital disorder of glycosylation, type iibbEnrichmentCOG31.82
277Cog6-congenital disorder of glycosylationEnrichmentCOG61.82
278Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeEnrichmentCOG61.82
279Gastric cancerEnrichmentIRF1, RAD51C, TP531.78
280Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentKIF1A1.75
281Hereditary sensory and autonomic neuropathy type 2EnrichmentKIF1A1.75
282Periodontitis, aggressive, 1EnrichmentCTSC1.73
283Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.73
284Haim-munk syndromeEnrichmentCTSC1.73
285Papillon-lefevre syndromeEnrichmentCTSC1.73
286Chylomicron retention diseaseEnrichmentSAR1B1.73
287Fanconi anemia, complementation group nEnrichmentDCTN51.73
288Creutzfeldt-jakob diseaseEnrichmentHLA-DQB11.73
289GalactosialidosisEnrichmentCTSA1.73
290Sarcoidosis 1EnrichmentHLA-DRB11.73
291Pancreatic cancer 3EnrichmentDCTN51.73
292Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.73
293Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.73
294Psoriasis 14, pustularEnrichmentAP1S31.73
295Pettigrew syndromeEnrichmentAP1S21.73
296Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.73
297Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M11.73
298Distal hereditary motor neuropathy type 7EnrichmentDCTN11.73
299Combined deficiency of sialidase and beta galactosidaseEnrichmentCTSA1.73
300Lissencephaly 1EnrichmentPAFAH1B11.71
301Intellectual developmental disorder, autosomal dominant 45EnrichmentPAFAH1B31.71
302Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.71
303Congenital nervous system abnormalityEnrichmentDYNC1H1, PLA2G6, TUBA1A, TUBB4A1.68
304Nervous system diseaseEnrichmentDYNC1H1, PLA2G6, TUBA1A, TUBB4A1.68
305Patent foramen ovaleEnrichmentGATA4, GATA61.68
306Uvula, bifidEnrichmentARF31.66
307KyphosisEnrichmentARF31.66
308Acute liver failureEnrichmentRINT11.66
309Multiple endocrine neoplasia, type iiaEnrichmentKIF1B1.65
310Kearns-sayre syndromeEnrichmentKIF5B1.65
311Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.65
312Primary autosomal recessive microcephalyEnrichmentCENPE, COPB21.64
313Myeloproliferative syndrome, transientEnrichmentGATA11.60
314Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.60
315Adrenocortical carcinoma, hereditaryEnrichmentTP531.60
316Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.60
317Porphyria, congenital erythropoieticEnrichmentGATA11.60
318Cervical cancerEnrichmentTP531.60
319Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A1.60
320Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathyEnrichmentMFN21.60
321Chromosome 16p11.2 deletion syndrome, 220-kbEnrichmentSH2B11.60
32246,xy sex reversal 9EnrichmentZFPM21.60
323Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.60
324Lymphoma, hodgkin, classicEnrichmentTP531.60
325Thrombocythemia 3EnrichmentJAK21.60
326Cyanosis, transient neonatalEnrichmentHBG21.60
327Adams-oliver syndrome 2EnrichmentDOCK61.60
328Neutropenia, severe congenital, 8, autosomal dominantEnrichmentGATA61.60
329Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.60
330Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.60
331Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.60
332Usher syndrome, type ivEnrichmentPRKAR1A1.60
333AcrodysostosisEnrichmentPRKAR1A1.60
334Chromosome 16p11.2 deletion syndrome, 593-kbEnrichmentSH2B11.60
335Congenital fibrosarcomaEnrichmentTP531.60
33646,xy sex reversal 3EnrichmentGATA41.60
337Hypobetalipoproteinemia, familial, 2EnrichmentDOCK71.60
338Li-fraumeni syndrome 1EnrichmentTP531.60
339SarcomaEnrichmentTP531.60
340Witteveen-kolk syndromeEnrichmentSIN3A1.60
341Fibrolamellar carcinomaEnrichmentPRKACA1.60
342Angiocentric gliomaEnrichmentMYB1.60
343Axonal neuropathyEnrichmentMFN21.60
344Developmental and epileptic encephalopathy 23EnrichmentDOCK71.60
345Cervix carcinomaEnrichmentTP531.60
346Immune system diseaseEnrichmentCDC421.60
347Hodgkin's lymphomaEnrichmentTP531.60
348Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.60
349B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.60
350Paget's disease of boneEnrichmentDOCK61.60
351Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB1.60
352Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.60
353PolycythemiaEnrichmentJAK21.60
354Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.60
355Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.60
356Hypereosinophilic syndromeEnrichmentJAK21.60
357Immunodeficiency 117EnrichmentIRF11.60
358Pleomorphic rhabdomyosarcomaEnrichmentTP531.60
359Multiple system atrophy, cerebellar typeEnrichmentMFN21.60
360Inherited cancer-predisposing syndromeEnrichmentPRKAR1A, RAD51B, RAD51C, SH2B3, TP531.60
361Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.57
362Early myoclonic encephalopathyEnrichmentTUBA1A1.57
363Multicystic kidney dysplasiaEnrichmentKIF4A1.57
364Syndromic rod-cone dystrophyEnrichmentKIF111.57
365Multicystic dysplastic kidneyEnrichmentKIF4A1.57
366Myopathy, centronuclear, x-linkedEnrichmentDNM21.56
367Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.56
368Developmental and epileptic encephalopathy 31bEnrichmentDNM11.56
369Breast-ovarian cancer, familial 5EnrichmentDCTN51.56
370Nail disorder, nonsyndromic congenital, 9EnrichmentCTSK1.56
371Adult-onset myasthenia gravisEnrichmentHLA-DQA11.56
372Cole-carpenter syndromeEnrichmentSEC24D1.56
373Aggressive periodontitisEnrichmentCTSC1.56
374Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.56
375Band heterotopiaEnrichmentPAFAH1B11.53
376Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B11.53
377Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B11.53
378Distal myopathyEnrichmentBICD21.53
379Muscular atrophyEnrichmentBICD21.53
380Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeEnrichmentSNAP291.53
381Congenital disorder of glycosylation, type iihEnrichmentCOG81.53
382Catifa syndromeEnrichmentRIC11.53
383Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentCUX11.53
384Smith-mccort dysplasiaEnrichmentRAB33B1.53
385Smith-mccort dysplasia 2EnrichmentRAB33B1.53
386Cog8-congenital disorder of glycosylationEnrichmentCOG81.53
387Familial isolated restrictive cardiomyopathyEnrichmentKIF20A1.51
388Hereditary breast ovarian cancer syndromeEnrichmentRAD51B, RAD51C, TP531.50
389Myeloma, multipleEnrichmentH3C1, SH2B3, TP531.48
390Diamond-blackfan anemia 1EnrichmentGATA1, TP531.48
391Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, MYB1.48
392Peripheral nervous system diseaseEnrichmentDYNC1H1, KIF5A1.45
393NeuropathyEnrichmentDYNC1H1, KIF5A1.45
394NeuroblastomaEnrichmentKIF1B1.45
395Liver failure, infantile, transientEnrichmentNBAS1.44
396Temporal arteritisEnrichmentHLA-DRB11.44
397Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.44
398Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.44
399Thrombocythemia 1EnrichmentSH2B31.43
400Hyper-ige syndrome 2, autosomal recessive, with recurrent infectionsEnrichmentDOCK81.43
401Polycythemia veraEnrichmentJAK21.43
402Epilepsy, familial temporal lobe, 1EnrichmentMICAL11.43
403Heart defects, congenital, and other congenital anomaliesEnrichmentGATA61.43
404Osteogenic sarcomaEnrichmentTP531.43
405Neuropathy, hereditary motor and sensory, type via, with optic atrophyEnrichmentMFN21.43
406Hypercholanemia, familial 1EnrichmentDOCK61.43
407Nasopharyngeal carcinomaEnrichmentTP531.43
408Diaphragmatic hernia 3EnrichmentZFPM21.43
409Adams-oliver syndrome 1EnrichmentDOCK61.43
410Breast-ovarian cancer, familial 3EnrichmentRAD51C1.43
411Fanconi anemia, complementation group oEnrichmentRAD51C1.43
412Hyper-ige syndrome 3, autosomal recessive, with recurrent infectionsEnrichmentDOCK81.43
413Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.43
414Atypical teratoid rhabdoid tumorEnrichmentTP531.43
415Anaplastic astrocytomaEnrichmentTP531.43
416Hemoglobin e diseaseEnrichmentHBB1.43
417Squamous cell carcinomaEnrichmentTP531.43
418T-cell acute lymphoblastic leukemiaEnrichmentABL11.43
419AdenocarcinomaEnrichmentTP531.43
420Hereditary site-specific ovarian cancer syndromeEnrichmentRAD51C1.43
421End stage renal diseaseEnrichmentGATA31.43
422Bone osteosarcomaEnrichmentTP531.43
423Adenoid cystic carcinomaEnrichmentMYB1.43
424Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.43
425Sickle cell-hemoglobin c diseaseEnrichmentHBB1.43
426Hemoglobin d diseaseEnrichmentHBB1.43
427Unstable hemoglobin diseaseEnrichmentHBB1.43
428Hyperpigmentation of the skinEnrichmentMFN21.43
429Hemoglobin e/beta thalassemia diseaseEnrichmentHBB1.43
430Primary ovarian insufficiencyEnrichmentJAK2, RAD51C, SH2B11.42
431Autosomal dominant cerebellar ataxiaEnrichmentKIF26B1.40
432Pelizaeus-merzbacher diseaseEnrichmentRAB9B1.35
433Spastic paraplegia 2, x-linkedEnrichmentRAB9B1.35
434Congenital disorder of glycosylation, type iigEnrichmentCOG11.35
435Leukodystrophy, hypomyelinating, 2EnrichmentSNAP291.35
436Epilepsy, progressive myoclonic, 6EnrichmentGOSR21.35
437Muscular dystrophy, congenital, with or without seizuresEnrichmentGOSR21.35
438Cog7-congenital disorder of glycosylationEnrichmentCOG71.35
439Pelizeaus-merzbacher spectrum disorderEnrichmentRAB9B1.35
440Developmental and epileptic encephalopathy 31aEnrichmentDNM11.34
441Follicular lymphomaEnrichmentHLA-DRB11.34
442Spinal muscular atrophyEnrichmentDYNC1H11.34
443Genetic motor neuron diseaseEnrichmentDCTN11.34
444Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB11.34
445Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B11.31
446Congenital ptosisEnrichmentRAB3GAP11.31
447Small cell cancer of the lungEnrichmentTP531.31
448Down syndromeEnrichmentGATA11.31
449Thyroid cancer, nonmedullary, 1EnrichmentTP531.31
450Budd-chiari syndromeEnrichmentJAK21.31
451Potocki-shaffer syndromeEnrichmentPHF21A1.31
452Carney complex variantEnrichmentPRKAR1A1.31
453Sickle cell diseaseEnrichmentHBB1.31
454Beta-thalassemia, dominant inclusion body typeEnrichmentHBB1.31
455Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.31
456Aminoacylase 1 deficiencyEnrichmentACTB1.31
457Fetal akinesia deformation sequence 3EnrichmentDOCK71.31
458Erythrocytosis, familial, 6EnrichmentHBB1.31
459Beta-thalassemia intermediaEnrichmentHBB1.31
460Lung sarcomatoid carcinomaEnrichmentTP531.31
461Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL11.31
462HemoglobinopathyEnrichmentHBB1.31
463Embryonal rhabdomyosarcomaEnrichmentTP531.31
464Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.31
465Hemoglobin c diseaseEnrichmentHBB1.31
466Transposition of the great arteriesEnrichmentGATA41.31
467Methemoglobinemia, beta-globin typeEnrichmentHBB1.31
468Middle aortic syndromeEnrichmentGATA61.31
469Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.31
470Congenital hypothyroidismEnrichmentTUBB11.28
471MyopathyEnrichmentDNM2, DYNC1H11.27
472Osteogenesis imperfecta, type iEnrichmentSEC24D1.26
473Myopathy, centronuclear, 1EnrichmentDNM21.26
474Inflammatory myofibroblastic tumorEnrichmentCLTC1.26
475Limited sclerodermaEnrichmentHLA-DRB11.26
476HypertrichosisEnrichmentRAB3GAP11.24
477Pseudohypoparathyroidism, type ibEnrichmentSTX161.23
478Congenital disorder of glycosylation, type iiiEnrichmentCOG51.23
479Cog5-congenital disorder of glycosylationEnrichmentCOG51.23
480Rhabdomyosarcoma 2EnrichmentTP531.21
481Ventricular septal defect 1EnrichmentGATA41.21
482LymphomaEnrichmentTP531.21
483ThalassemiaEnrichmentHBB1.21
484Myeloproliferative neoplasmEnrichmentJAK21.21
485Persistent truncus arteriosusEnrichmentGATA61.21
486Seckel syndromeEnrichmentCENPE1.21
487West syndromeEnrichmentDNM1, TUBA1A1.20
488Noonan syndrome 3EnrichmentCLTC1.20
489Renal cell carcinoma with mit translocationsEnrichmentCLTC1.20
490Corpus callosum, agenesis ofEnrichmentTUBA1A1.18
491HydrocephalusEnrichmentKIF4A1.18
492Isolated corpus callosum agenesisEnrichmentTUBA1A1.18
493Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A1.18
494Breast cancerEnrichmentKLC1, RAD51C, TP531.17
495Hydrocephalus, congenital, 1EnrichmentKIF4A1.16
496Isolated congenital microcephalyEnrichmentTUBA3E1.16
497Primary bone dysplasiaEnrichmentCOPB11.15
498Lennox-gastaut syndromeEnrichmentDNM11.14
499Pontocerebellar hypoplasia, type 2dEnrichmentVPS531.14
500Hyperaldosteronism, familial, type iEnrichmentHBD1.14
501Li-fraumeni syndromeEnrichmentTP531.14
502Methemoglobinemia, beta typeEnrichmentHBB1.14
503Double outlet right ventricleEnrichmentZFPM21.14
504Breast adenocarcinomaEnrichmentTP531.14
505Autosomal dominant secondary polycythemiaEnrichmentHBB1.14
506Dandy-walker syndromeEnrichmentTUBA1A1.13
507Syndromic intellectual disabilityEnrichmentKIF1A1.13
508Diamond-blackfan anemiaEnrichmentGATA1, TP531.13
509Pectus excavatumEnrichmentARF31.11
510Immune deficiency diseaseEnrichmentCOPB11.11
511OsteochondrodysplasiaEnrichmentCOPB11.11
512Myoclonic-atonic epilepsyEnrichmentAP2M11.09
513Esophageal cancerEnrichmentTP531.07
514Squamous cell carcinoma, head and neckEnrichmentTP531.07
515Leukemia, chronic myeloidEnrichmentABL11.07
516Beta-thalassemiaEnrichmentHBB1.07
517Adams-oliver syndromeEnrichmentDOCK61.07
518Beta-thalassemia majorEnrichmentHBB1.07
519Gallbladder cancerEnrichmentTP531.07
520Hemolytic anemiaEnrichmentHBB1.07
521Moyamoya angiopathyEnrichmentABL11.07
522Amyotrophic lateral sclerosis 1EnrichmentDCTN11.05
523PolymicrogyriaEnrichmentDYNC1H11.05
524Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentKIF1B1.04
525Attention deficit-hyperactivity disorderEnrichmentKIF5B1.02
526Neurodegeneration with brain iron accumulationEnrichmentPLA2G61.02
527Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, DNM11.02
528Heinz body anemiasEnrichmentHBB1.02
529Lymphoma, non-hodgkin, familialEnrichmentTP531.02
530Severe congenital neutropeniaEnrichmentVPS451.02
531Heinz body anemiaEnrichmentHBB1.02
532Frontotemporal dementia 1EnrichmentDCTN11.01
533Periventricular nodular heterotopiaEnrichmentARF11.01
534CataractEnrichmentCOPB11.01
535Pontocerebellar hypoplasia, type 2eEnrichmentVPS531.00
536Movement diseaseEnrichmentRAB3GAP10.99
537Digeorge syndromeEnrichmentSEC24C0.97
538Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.97
539Alpha-thalassemiaEnrichmentHBB0.97
540Leukemia, acute lymphoblastic 3EnrichmentJAK20.97
541Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.97
542Adult hepatocellular carcinomaEnrichmentTP530.97
543Primary hyperaldosteronismEnrichmentTP530.97
544Hydrops fetalis, nonimmuneEnrichmentKIF190.96
545Immunodeficiency 47EnrichmentCOG70.94
546Stereotypic movement disorderEnrichmentDNM10.94
547Leukemia, chronic lymphocyticEnrichmentTP530.93
548Familial colorectal cancerEnrichmentTP530.93
549ThrombocytopeniaEnrichmentGATA1, TUBB10.92
550Heart, malformation ofEnrichmentARF30.90
551Lung non-small cell carcinomaEnrichmentIRF10.89
552Uterine corpus cancerEnrichmentRAD51C0.89
553Non-immune hydrops fetalisEnrichmentKIF190.88
554Ovarian cancerEnrichmentKIF1B, RAD51C, TP530.87
555Progressive myoclonus epilepsyEnrichmentGOSR20.85
556Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.83
557Aortic valve disease 1EnrichmentGATA50.82
558Hypercholesterolemia, familial, 1EnrichmentDOCK60.82
559Breast-ovarian cancer, familial 1EnrichmentRAD51C0.82
560Acute promyelocytic leukemiaEnrichmentPRKAR1A0.82
561Charcot-marie-tooth disease type 4EnrichmentDYNC1H10.81
562Leber plus diseaseEnrichmentNBAS, TUBB4B0.81
563Cleft palate, isolatedEnrichmentRAB3GAP10.81
564Aortic aneurysm, familial thoracic 1EnrichmentGATA40.79
565Lung cancer susceptibility 3EnrichmentTP530.79
566ScoliosisEnrichmentARF30.79
567Esophageal atresia/tracheoesophageal fistulaEnrichmentRAB3GAP20.76
568Atypical hemolytic-uremic syndromeEnrichmentHBB0.76
569Familial hypercholesterolemiaEnrichmentDOCK60.76
570Hypertrophic cardiomyopathyEnrichmentKIF5B0.75
571Centronuclear myopathyEnrichmentDNM20.75
572Optic atrophy plus syndromeEnrichmentTUBB60.74
573RhabdomyosarcomaEnrichmentTP530.74
574GliosarcomaEnrichmentTP530.74
575Myoclonic epilepsy of unverricht and lundborgEnrichmentGOSR20.72
576Cleft lip/palateEnrichmentRIC10.72
577Giant cell glioblastomaEnrichmentTP530.71
578Beckwith-wiedemann syndromeEnrichmentMFN20.69
579Diffuse large b-cell lymphomaEnrichmentTP530.67
580DystoniaEnrichmentARF30.64
581Endometrial cancerEnrichmentRAD51C0.63
582HepatoblastomaEnrichmentTP530.63
583Severe covid-19EnrichmentHLA-DQB10.62
584Pontocerebellar hypoplasiaEnrichmentVPS530.62
585Hepatocellular carcinomaEnrichmentTP530.62
586MalariaEnrichmentHBB0.60
587Cystic fibrosisEnrichmentDCTN40.59
588Dilated cardiomyopathyEnrichmentGATA6, KIF5B0.58
589Pancreatic cancerEnrichmentTP530.57
590Developmental and epileptic encephalopathyEnrichmentSEC24C0.54
591Systemic lupus erythematosusEnrichmentHLA-DRB10.52
592Bladder cancerEnrichmentTP530.51
593Prostate cancerEnrichmentTP530.51
594Lung cancerEnrichmentIRF10.48
595Hereditary breast carcinomaEnrichmentDCTN50.47
596Severe combined immunodeficiencyEnrichmentDOCK80.47
597Distal arthrogryposisEnrichmentBICD20.47
598CakutEnrichmentGATA30.46
599Differentiated thyroid carcinomaEnrichmentGOLGA50.45
600Fanconi anemia, complementation group aEnrichmentRAD51C0.45
601Connective tissue diseaseEnrichmentTRIP110.42
602AutismEnrichmentARF30.38
603Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentDCTN10.38
604Joubert syndrome 1EnrichmentRCOR10.33
605Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGATA40.29
606Colorectal cancerEnrichmentDCTN50.25
607Deafness, autosomal recessiveEnrichmentGOSR20.21
608Primary ciliary dyskinesiaEnrichmentPRKAR1B0.21
609Retinitis pigmentosaEnrichmentKIF110.21
610Autosomal recessive nonsyndromic deafnessEnrichmentGOSR20.21
611Hereditary retinal dystrophyEnrichmentKIF11, NBAS0.20
612Fundus dystrophyEnrichmentKIF11, NBAS0.20
613Autism spectrum disorderEnrichmentDYNC1H10.19
614Complex neurodevelopmental disorderEnrichmentAP1G10.16
615Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGOSR20.13

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