Transport to the Golgi and subsequent modification

Pathway network for the Transport to the Golgi and subsequent modification SuperPath

Sources:
  • Reactome

Pathways in the Transport to the Golgi and subsequent modification SuperPath

#NameSourceGenes
1Transport to the Golgi and subsequent modificationReactome
2Asparagine N-linked glycosylationReactome
(see all 312) (see less)
3ER to Golgi Anterograde TransportReactome
4COPI-mediated anterograde transportReactome
5COPII-mediated vesicle transportReactome
6Cargo concentration in the ERReactome
7N-glycan trimming and elongation in the cis-GolgiReactome
8Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2Reactome

Gene overlap in member pathways for Transport to the Golgi and subsequent modification SuperPath

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

Disorders associated with Transport to the Golgi and subsequent modification SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Congenital disorder of glycosylation, type inEnrichmentALG1, ALG13, ALG3, DPAGT1, MAGT1, NUS1, PMM2, RFT1, SRD5A310.53
2Congenital myasthenic syndromes with glycosylation defectEnrichmentALG14, ALG2, DPAGT1, GFPT1, GMPPB8.20
3LissencephalyEnrichmentDYNC1H1, TUBA1A, TUBA3E, TUBB2B, TUBB36.39
4Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB36.38
5TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B5.78
6Developmental and epileptic encephalopathy 36EnrichmentALG1, ALG13, DPM1, PMM25.40
7Combined deficiency of factor v and factor viiiEnrichmentLMAN1, MCFD25.24
8Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB35.09
9Hereditary spherocytosisEnrichmentANK1, SPTA1, SPTB5.09
10Factor v and factor viii, combined deficiency of, 1EnrichmentLMAN1, MCFD24.76
11Pyropoikilocytosis, hereditaryEnrichmentSPTA1, SPTB4.25
12Hereditary elliptocytosisEnrichmentSPTA1, SPTB3.48
13Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentNUS1, TUBA1A, TUBB2B3.40
14Polycystic liver diseaseEnrichmentALG8, ALG9, GANAB, PRKCSH3.29
15Autosomal dominant polycystic liver diseaseEnrichmentALG8, ALG9, GANAB, PRKCSH3.29
16Congenital disorder of glycosylation with defective fucosylation 1EnrichmentFCSK, FUT83.28
17Bilateral perisylvian polymicrogyriaEnrichmentNUS1, TUBA1A, TUBB2B3.04
18Hemolytic anemiaEnrichmentSPTA1, SPTB2.94
19Uvula, bifidEnrichmentARF3, UBB2.81
20Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB12.62
21Epidermolysis bullosa dystrophica, pretibialEnrichmentCOL7A12.61
22Epidermolysis bullosa dystrophica, autosomal dominantEnrichmentCOL7A12.61
23Epidermolysis bullosa dystrophica, autosomal recessiveEnrichmentCOL7A12.61
24Thrombophilia, x-linked, due to factor viii defectEnrichmentF82.61
25Nail disorder, nonsyndromic congenital, 8EnrichmentCOL7A12.61
26Craniolenticulosutural dysplasiaEnrichmentSEC23A2.61
27Transient bullous dermolysis of the newbornEnrichmentCOL7A12.61
28Epidermolysis bullosa with congenital localized absence of skin and deformity of nailsEnrichmentCOL7A12.61
29Factor v and factor viii, combined deficiency of, 2EnrichmentMCFD22.61
30Factor v deficiencyEnrichmentF52.61
31Intellectual developmental disorder, autosomal recessive 52EnrichmentLMAN2L2.61
32Cole-carpenter syndrome 2EnrichmentSEC24D2.61
33Thrombophilia due to activated protein c resistanceEnrichmentF52.61
34Odontochondrodysplasia 2 with hearing loss and diabetesEnrichmentMIA32.61
35Intellectual developmental disorder, autosomal dominant 69EnrichmentLMAN2L2.61
36Epidermolysis bullosa pruriginosaEnrichmentCOL7A12.61
37Neurodegeneration due to cerebral folate transport deficiencyEnrichmentFOLR12.61
38Congenital disorder of glycosylation, type iiaaEnrichmentSTX52.61
39Alpha-1-antitrypsin deficiencyEnrichmentSERPINA12.61
40Thyroid gland diseaseEnrichmentCOL7A12.61
41Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathyEnrichmentCD592.61
42Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA12.61
43Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA12.61
44Recessive dystrophic epidermolysis bullosa-generalized otherEnrichmentCOL7A12.61
45Factor v atlanta bleeding disorderEnrichmentF52.61
46Neurodegenerative syndrome due to cerebral folate transport deficiencyEnrichmentFOLR12.61
47Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutationEnrichmentSERPINA12.61
48Factor v leiden thrombophiliaEnrichmentF52.61
49Localized dystrophic epidermolysis bullosa, acral formEnrichmentCOL7A12.61
50Factor v amsterdam bleeding disorderEnrichmentF52.61
51Recessive dystrophic epidermolysis bullosa inversaEnrichmentCOL7A12.61
52Generalized dominant dystrophic epidermolysis bullosaEnrichmentCOL7A12.61
53Budd-chiari syndromeEnrichmentCALR, F52.51
54Congenital nervous system abnormalityEnrichmentANK3, DYNC1H1, FUCA1, SRD5A3, TRAPPC9, TUBA1A, TUBB4A, TUSC32.51
55Nervous system diseaseEnrichmentANK3, DYNC1H1, FUCA1, SRD5A3, TRAPPC9, TUBA1A, TUBB4A, TUSC32.51
56Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, LMAN2L, TRAPPC92.50
57Protein-deficiency anemiaEnrichmentSPTA1, SPTB2.38
58Autosomal dominant polycystic kidney diseaseEnrichmentALG5, ALG9, GANAB2.35
59Periodontitis, aggressive, 1EnrichmentCTSC2.31
60Haim-munk syndromeEnrichmentCTSC2.31
61Papillon-lefevre syndromeEnrichmentCTSC2.31
62Chylomicron retention diseaseEnrichmentSAR1B2.31
63Hemophilia bEnrichmentF82.31
64Bleeding disorder, east texas typeEnrichmentF52.31
65Recessive dystrophic epidermolysis bullosaEnrichmentCOL7A12.31
66Surfactant metabolism dysfunction, pulmonary, 3EnrichmentF82.31
67Epidermolysis bullosa dystrophicaEnrichmentCOL7A12.31
68Free sialic acid storage disorderEnrichmentGNE, SLC17A52.30
69Spastic paraplegia 57, autosomal recessiveEnrichmentTFG2.29
70Intellectual developmental disorder, autosomal recessive 13EnrichmentTRAPPC92.29
71Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D2.29
72Muscular dystrophy, congenital, with rapid progressionEnrichmentBET12.29
73Halperin-birk syndromeEnrichmentSEC31A2.29
74Developmental and epileptic encephalopathy 107EnrichmentNAPB2.29
75Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophyEnrichmentTRAPPC6B2.29
76Developmental delay with hypotonia, myopathy, and brain abnormalitiesEnrichmentGOLGA22.29
77Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyEnrichmentTRAPPC42.29
78Warburg micro syndrome 4EnrichmentTBC1D202.29
79Neurodevelopmental disorder with microcephaly, short stature, and speech delayEnrichmentTRAPPC102.29
80Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutationEnrichmentTFG2.29
81Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeEnrichmentTRAPPC92.29
82ThrombocytopeniaEnrichmentF8, MCFD22.22
83Nail disorder, nonsyndromic congenital, 4EnrichmentCOL7A12.14
84Gastrointestinal defects and immunodeficiency syndrome 1EnrichmentMCFD22.14
85Intellectual developmental disorder, x-linked 109EnrichmentSERPINA12.14
86Epilepsy, progressive myoclonic, 6EnrichmentGOSR22.14
87Muscular dystrophy, congenital, with or without seizuresEnrichmentGOSR22.14
88Cole-carpenter syndromeEnrichmentSEC24D2.14
89Aggressive periodontitisEnrichmentCTSC2.14
90Cerebral sinovenous thrombosisEnrichmentF52.14
91Hyperpigmentation of the skinEnrichmentCOL7A12.14
92Elliptocytosis 2EnrichmentSPTA12.12
93Perry syndromeEnrichmentDCTN12.12
94Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.12
95Cardiac arrhythmia, ankyrin-b-relatedEnrichmentANK22.12
96Spinocerebellar ataxia 5EnrichmentSPTBN22.12
97Congenital disorder of glycosylation, type iilEnrichmentCOG62.12
98Developmental and epileptic encephalopathy 5EnrichmentSPTAN12.12
99Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyEnrichmentCD552.12
100Intellectual developmental disorder, autosomal recessive 37EnrichmentANK32.12
101Blood group, cromer systemEnrichmentCD552.12
102Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.12
103Congenital disorder of glycosylation, type iijEnrichmentCOG42.12
104Congenital disorder of glycosylation, type iiqEnrichmentCOG22.12
105Osteoporosis, childhood- or juvenile-onset, with developmental delayEnrichmentCOPB22.12
106Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.12
107Spherocytosis, type 3EnrichmentSPTA12.12
108Microcephaly 19, primary, autosomal recessiveEnrichmentCOPB22.12
109Charcot-marie-tooth disease, axonal, type 2ggEnrichmentGBF12.12
110Saul-wilson syndromeEnrichmentCOG42.12
111Long qt syndrome 4EnrichmentANK22.12
112Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.12
113Spinocerebellar ataxia, autosomal recessive 14EnrichmentSPTBN22.12
114Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN12.12
115Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN12.12
116Hyperpigmentation, familial progressive, 1EnrichmentSPTA12.12
117Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.12
118Shaheen syndromeEnrichmentCOG62.12
119Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.12
120Short stature-micrognathia syndromeEnrichmentARCN12.12
121Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.12
122Dync1h1-related disordersEnrichmentDYNC1H12.12
123Cog4-congenital disorder of glycosylationEnrichmentCOG42.12
1248p11.2 deletion syndromeEnrichmentANK12.12
125Autoinflammation and autoimmunity, systemic, with immune dysregulationEnrichmentCOPA2.12
126Spherocytosis, type 2EnrichmentSPTB2.12
127Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.12
128Baralle-macken syndromeEnrichmentCOPB12.12
129Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I22.12
130Elliptocytosis 3EnrichmentSPTB2.12
131Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.12
132Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN12.12
133Developmental delay with or without epilepsyEnrichmentSPTAN12.12
134Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.12
135Congenital myopathy 26EnrichmentTUBA4A2.12
136Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.12
137Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.12
138Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN12.12
139Congenital disorder of glycosylation, type iibbEnrichmentCOG32.12
140Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.12
141Protein-losing enteropathyEnrichmentCD552.12
142Immunodeficiency 128EnrichmentCOPG12.12
143Cog6-congenital disorder of glycosylationEnrichmentCOG62.12
144Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeEnrichmentCOG62.12
145Neuromuscular diseaseEnrichmentGOLGA2, SPTAN12.10
146Hemophilia aEnrichmentF82.01
147Factor viii deficiencyEnrichmentF82.01
148Pregnancy loss, recurrent 1EnrichmentF52.01
149Epidermolytic hyperkeratosisEnrichmentCOL7A12.01
150Cerebral palsyEnrichmentF8, TUBA1A, TUBB4A2.00
151Amyotrophy, hereditary neuralgicEnrichmentNAPB1.99
152Spondyloepiphyseal dysplasia tarda, x-linkedEnrichmentTRAPPC21.99
153Encephalopathy, progressive, early-onset, with episodic rhabdomyolysisEnrichmentTRAPPC2L1.99
154Spondyloepiphyseal dysplasia tardaEnrichmentTRAPPC21.99
155Developmental and epileptic encephalopathy 96EnrichmentNSF1.99
156Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesEnrichmentTRAPPC41.99
157Charcot-marie-tooth diseaseEnrichmentDCTN1, DYNC1H1, TFG1.94
158Epidermolytic hyperkeratosis 1EnrichmentCOL7A11.92
159Epidermolysis bullosaEnrichmentCOL7A11.92
160Immunodeficiency 47EnrichmentALG2, COG71.87
161MicrocephalyEnrichmentARF3, COL7A1, COPB1, DYNC1H1, TUBB4A1.86
162Congenital disorder of glycosylation, type iiaEnrichmentMGAT21.86
163Congenital disorder of glycosylation, type iidEnrichmentB4GALT11.86
164Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.86
165Blood group, lewis systemEnrichmentFUT31.86
166Combined low ldl and fibrinogenEnrichmentB4GALT11.86
167Osteogenesis imperfecta, type iEnrichmentSEC24D1.84
168Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.82
169Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.82
170Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.82
171Cataract 11, multiple typesEnrichmentGBF11.82
172Anterior segment dysgenesis 1EnrichmentGBF11.82
173Fanconi anemia, complementation group nEnrichmentDCTN51.82
174Chudley-mccullough syndromeEnrichmentSPTB1.82
175Maturity-onset diabetes of the young, type 10EnrichmentINS1.82
176Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.82
177Pancreatic cancer 3EnrichmentDCTN51.82
178Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.82
179Neurodevelopmental disorder with hypotonia, neuropathy, and deafnessEnrichmentSPTBN41.82
180Congenital disorder of glycosylation, type iihEnrichmentCOG81.82
181Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.82
182Osteogenesis imperfecta, type xxiEnrichmentKDELR21.82
183HyperproinsulinemiaEnrichmentINS1.82
184Periventricular nodular heterotopia 8EnrichmentARF11.82
185Keratoconus 9EnrichmentTUBA3D1.82
186Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.82
187Lissencephaly 3EnrichmentTUBA1A1.82
188Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H11.82
189Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.82
190Congenital hemolytic anemiaEnrichmentSPTA11.82
191Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.82
192Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.82
193Torsion dystonia 4EnrichmentTUBB4A1.82
194Distal hereditary motor neuropathy type 7EnrichmentDCTN11.82
195Cog8-congenital disorder of glycosylationEnrichmentCOG81.82
196Continuous spikes and waves during sleepEnrichmentTUBA1A1.82
197Advanced sleep phase syndromeEnrichmentCSNK1D1.82
198Nevus, epidermalEnrichmentCOL7A11.77
199Autosomal dominant non-syndromic intellectual disabilityEnrichmentARF3, DYNC1H1, GRIA11.71
200Warburg micro syndrome 1EnrichmentTBC1D201.69
201Mucopolysaccharidosis ivEnrichmentTRAPPC2L1.69
202Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.65
203Type 1 diabetes mellitus 2EnrichmentINS1.65
204Congenital disorder of glycosylation, type iigEnrichmentCOG11.65
205Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.65
206Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.65
207Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.65
208Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.65
209Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.65
210Breast-ovarian cancer, familial 5EnrichmentDCTN51.65
211KyphosisEnrichmentARF31.65
212Cog7-congenital disorder of glycosylationEnrichmentCOG71.65
213Inclusion body myositisEnrichmentGNE1.64
214Anemia, congenital, nonspherocytic hemolytic, 5EnrichmentHK11.64
215Neuraminidase deficiencyEnrichmentNEU11.64
216SialuriaEnrichmentGNE1.64
217Congenital disorder of glycosylation, type ibEnrichmentMPI1.64
218Congenital disorder of glycosylation, type iicEnrichmentSLC35C11.64
219Congenital disorder of glycosylation, type imEnrichmentDOLK1.64
220Muscular dystrophy-dystroglycanopathy , type c, 15EnrichmentDPM31.64
221Intellectual developmental disorder, autosomal recessive 12EnrichmentST3GAL31.64
222Intellectual developmental disorder, autosomal recessive 7EnrichmentTUSC31.64
223Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.64
224Myasthenic syndrome, congenital, 14EnrichmentALG21.64
225Congenital disorder of glycosylation, type iw, autosomal recessiveEnrichmentSTT3A1.64
226Congenital disorder of glycosylation, type ihEnrichmentALG81.64
227Congenital disorder of glycosylation, type iaEnrichmentPMM21.64
228Blood group, sid systemEnrichmentB4GALNT21.64
229Retinitis pigmentosa 79EnrichmentHK11.64
230Congenital disorder of glycosylation, type iuEnrichmentDPM21.64
231Congenital disorder of glycosylation, type iaaEnrichmentNUS11.64
232Muscular dystrophy-dystroglycanopathy , type b, 15EnrichmentDPM31.64
233Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesEnrichmentALG141.64
234Polycystic kidney disease 7EnrichmentALG51.64
235Gillessen-kaesbach-nishimura syndromeEnrichmentALG91.64
236Retinitis pigmentosa 59EnrichmentDHDDS1.64
237Congenital disorder of glycosylation, type iccEnrichmentMAGT11.64
238Rhizomelic dysplasia, ain-naz typeEnrichmentGNPNAT11.64
239Kahrizi syndromeEnrichmentSRD5A31.64
240Congenital disorder of glycosylation, type icEnrichmentALG61.64
241Congenital disorder of glycosylation, type iifEnrichmentSLC35A11.64
242Neuropathy, hereditary motor and sensory, russe typeEnrichmentHK11.64
243Neurodevelopmental disorder with visual defects and brain anomaliesEnrichmentHK11.64
244Epilepsy, familial adult myoclonic, 3EnrichmentMARCHF61.64
245Congenital disorder of glycosylation, type irEnrichmentDDOST1.64
246Porokeratosis 7, multiple typesEnrichmentMVD1.64
247Congenital disorder of glycosylation, type 2vEnrichmentEDEM31.64
248Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.64
249Congenital disorder of deglycosylation 1EnrichmentNGLY11.64
250Intellectual developmental disorder, autosomal dominant 55, with seizuresEnrichmentNUS11.64
251Developmental delay and seizures with or without movement abnormalitiesEnrichmentDHDDS1.64
252Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic faciesEnrichmentSEL1L1.64
253Congenital disorder of glycosylation, type iiccEnrichmentUGGT11.64
254Polycystic liver disease 3 with or without kidney cystsEnrichmentALG81.64
255Multisystem proteinopathyEnrichmentVCP1.64
256Congenital disorder of glycosylation with defective fucosylation 2EnrichmentFCSK1.64
257Autosomal dominant tubulointerstitial kidney disease - umodEnrichmentUMOD1.64
258Congenital disorder of glycosylation iwEnrichmentSTT3A1.64
259Ngly1-related congenital disorder of deglycosylationEnrichmentNGLY11.64
260Thrombocytopenia 12 with or without myopathyEnrichmentGNE1.64
261Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.64
262Glb1-related disordersEnrichmentGLB11.64
263Cathepsin a-related arteriopathy-strokes-leukoencephalopathyEnrichmentCTSA1.64
264St3gal3-cdgEnrichmentST3GAL31.64
265Man1b1-congenital disorder of glycosylationEnrichmentMAN1B11.64
266Stroke, ischemicEnrichmentF51.62
267Progressive myoclonus epilepsyEnrichmentGOSR21.62
268Kbg syndromeEnrichmentTRAPPC2L1.60
269Mucopolysaccharidosis, type ivaEnrichmentTRAPPC2L1.60
270Chondrosarcoma, extraskeletal myxoidEnrichmentTFG1.60
271Diabetes mellitusEnrichmentINS, PMM21.60
272IchthyosisEnrichmentCOL7A11.58
273Digeorge syndromeEnrichmentSEC24C1.54
274Congenital disorder of glycosylation, type iiiEnrichmentCOG51.53
275Neonatal diabetes mellitusEnrichmentINS1.53
276Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.53
277Cog5-congenital disorder of glycosylationEnrichmentCOG51.53
278Autosomal recessive intellectual developmental disorderEnrichmentTRAPPC91.52
279Pulmonary disease, chronic obstructiveEnrichmentSERPINA11.51
280Myoclonic epilepsy of unverricht and lundborgEnrichmentGOSR21.47
281Autism spectrum disorderEnrichmentANK2, DYNC1H1, GRIA1, TRAPPC91.43
282Spherocytosis, type 1EnrichmentANK11.43
283Pervasive developmental disorderEnrichmentSPTBN11.43
284Spinal muscular atrophyEnrichmentDYNC1H11.43
285Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.43
286Genetic motor neuron diseaseEnrichmentDCTN11.43
287Rare pervasive developmental disorderEnrichmentSPTBN11.43
288Spastic paraplegia 4, autosomal dominantEnrichmentTRAPPC21.40
289Beckwith-wiedemann syndromeEnrichmentCOL7A11.37
290West syndromeEnrichmentSPTAN1, TUBA1A1.36
291Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.35
292Type 1 diabetes mellitusEnrichmentINS1.35
293Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentANK21.35
294Early myoclonic encephalopathyEnrichmentTUBA1A1.35
295Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentUMOD1.34
296Chromosomal instability with tissue-specific radiosensitivityEnrichmentGMPPA1.34
297Immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasiaEnrichmentMAGT11.34
298Congenital disorder of glycosylation, type 1ddEnrichmentDHRSX1.34
299Congenital disorder of glycosylation, type iibEnrichmentMOGS1.34
300Salt and pepper developmental regression syndromeEnrichmentST3GAL51.34
301Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP1.34
302Congenital disorder of glycosylation, type ijEnrichmentDPAGT11.34
303Congenital disorder of glycosylation, type ifEnrichmentMPDU11.34
304Muscular dystrophy-dystroglycanopathy , type a, 14EnrichmentGMPPB1.34
305Muscular dystrophy-dystroglycanopathy , type b, 14EnrichmentGMPPB1.34
306Myasthenic syndrome, congenital, 13EnrichmentDPAGT11.34
307Bleeding disorder, platelet-type, 19EnrichmentGNE1.34
308Myasthenic syndrome, congenital, 15EnrichmentALG141.34
309GalactosialidosisEnrichmentCTSA1.34
310Rafiq syndromeEnrichmentMAN1B11.34
311Congenital disorder of glycosylation, type ixEnrichmentSTT3B1.34
312Myasthenic syndrome, congenital, 12EnrichmentGFPT11.34
313Alacrima, achalasia, and impaired intellectual development syndromeEnrichmentGMPPA1.34
314Developmental and epileptic encephalopathy 15EnrichmentST3GAL31.34
315Immunodeficiency 23EnrichmentPGM31.34
316Birk-aharoni syndromeEnrichmentPSMC11.34
317Congenital disorder of glycosylation, type igEnrichmentALG121.34
318Salt and pepper syndromeEnrichmentST3GAL51.34
319Muscular dystrophy-dystroglycanopathy , type c, 14EnrichmentGMPPB1.34
320Congenital disorder of glycosylation, type iqEnrichmentSRD5A31.34
321Syndromic x-linked intellectual disability 17EnrichmentGMPPA1.34
322Myopathy, epilepsy, and progressive cerebral atrophyEnrichmentALG141.34
323Intellectual developmental disorder, autosomal recessive 24EnrichmentTUSC31.34
324Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentSTT3A1.34
325Polycystic kidney disease 3EnrichmentGANAB1.34
326Spastic paraplegia 89, autosomal recessiveEnrichmentAMFR1.34
327Childhood-onset epilepsy syndromeEnrichmentAMDHD21.34
328Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaEnrichmentSEL1L1.34
329GlycoproteinosisEnrichmentNEU11.34
330Congenital muscular dystrophy-dystroglycanopathy type a14EnrichmentGMPPB1.34
331Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentRPN11.34
332Combined deficiency of sialidase and beta galactosidaseEnrichmentCTSA1.34
333Dpagt1-congenital disorder of glycosylationEnrichmentDPAGT11.34
334Submucosal cleft palateEnrichmentUBB1.34
335Cleft hard palateEnrichmentUBB1.34
336Spastic paraplegia-paget disease of bone syndromeEnrichmentVCP1.34
337Developmental and epileptic encephalopathyEnrichmentSEC24C, SPTAN1, ST3GAL31.31
338HepatoblastomaEnrichmentCOL7A11.30
339Focal epilepsyEnrichmentSPTAN11.29
340Cystic fibrosisEnrichmentDCTN4, SERPINA11.28
341Primary autosomal recessive microcephalyEnrichmentCOPB2, TRAPPC101.28
342Tooth agenesisEnrichmentTGFA1.28
343Skin diseaseEnrichmentCOL7A11.28
344FucosidosisEnrichmentFUCA11.27
345Peeling skin syndrome 3EnrichmentCHST81.27
346CryptorchidismEnrichmentTUBA1A1.23
347Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentANK21.23
348Permanent neonatal diabetes mellitusEnrichmentINS1.23
349Spastic ataxiaEnrichmentSPTAN1, TUBB31.22
350Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A1.18
351Variegate porphyriaEnrichmentB4GALT31.17
352Thrombocythemia 1EnrichmentCALR1.17
353Gm1-gangliosidosis, type iEnrichmentGLB11.17
354Mucopolysaccharidosis, type ivbEnrichmentGLB11.17
355Gm1-gangliosidosis, type iiEnrichmentGLB11.17
356Wilson diseaseEnrichmentALG111.17
357Cleft soft palateEnrichmentUBB1.17
358Nonaka myopathyEnrichmentGNE1.17
359Spondyloepimetaphyseal dysplasia, genevieve typeEnrichmentNANS1.17
360Gm1-gangliosidosis, type iiiEnrichmentGLB11.17
361Congenital disorder of glycosylation, type ipEnrichmentALG111.17
362Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic faciesEnrichmentPMM11.17
363Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP1.17
364Hyper ige syndromeEnrichmentPGM31.17
365Gm1 gangliosidosisEnrichmentGLB11.17
366Linear porokeratosisEnrichmentMVD1.17
367Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentTFG, VCP1.16
368Amyotrophic lateral sclerosis 1EnrichmentDCTN11.14
369PolymicrogyriaEnrichmentDYNC1H11.14
370Primary bone dysplasiaEnrichmentCOPB11.14
371Severe combined immunodeficiencyEnrichmentMCFD21.11
372Pectus excavatumEnrichmentARF31.10
373Immune deficiency diseaseEnrichmentCOPB11.10
374Frontotemporal dementia 1EnrichmentDCTN11.10
375OsteochondrodysplasiaEnrichmentCOPB11.10
376Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H11.06
377Congenital hypothyroidismEnrichmentTUBB11.06
378Achalasia-addisonianism-alacrima syndromeEnrichmentGMPPA1.05
379Infantile sialic acid storage diseaseEnrichmentSLC17A51.05
380Congenital disorder of glycosylation, type ikEnrichmentALG11.05
381Salla diseaseEnrichmentSLC17A51.05
382Myopathy, autophagic vacuolar, infantile-onsetEnrichmentGNE1.05
383Long qt syndrome 2EnrichmentALG10B1.05
384PorokeratosisEnrichmentMVD1.05
385MedulloblastomaEnrichmentANK31.00
386Periventricular nodular heterotopiaEnrichmentARF11.00
387CataractEnrichmentCOPB11.00
388Muscular dystrophyEnrichmentGMPPB, PMM20.98
389Corpus callosum, agenesis ofEnrichmentTUBA1A0.97
390Isolated corpus callosum agenesisEnrichmentTUBA1A0.97
391Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A0.97
392Polycystic liver disease 1 with or without kidney cystsEnrichmentPRKCSH0.96
393Dementia, lewy bodyEnrichmentVCP0.96
394Congenital disorder of glycosylation, type idEnrichmentALG30.96
395Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentGANAB0.96
396Congenital disorder of glycosylation, type ilEnrichmentALG90.96
397Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.96
398Polycystic liver disease 1EnrichmentPRKCSH0.96
399Alg9-congenital disorder of glycosylationEnrichmentALG90.96
400Congenital muscular dystrophy with intellectual disabilityEnrichmentGMPPB0.96
401Isolated congenital microcephalyEnrichmentTUBA3E0.94
402Hydrops fetalis, nonimmuneEnrichmentCTSA, NEU10.92
403Dandy-walker syndromeEnrichmentTUBA1A0.92
404Heart, malformation ofEnrichmentARF30.90
405Charcot-marie-tooth disease type 4EnrichmentDYNC1H10.90
406Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentGLB10.88
407Familial adult myoclonic epilepsyEnrichmentMARCHF60.88
408Congenital muscular dystrophy with cerebellar involvementEnrichmentGMPPB0.88
409Differentiated thyroid carcinomaEnrichmentTFG0.86
410Maturity-onset diabetes of the youngEnrichmentINS0.85
411Deafness, autosomal recessiveEnrichmentGOSR20.85
412Autosomal recessive nonsyndromic deafnessEnrichmentGOSR20.84
413Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentALG90.82
414MyelofibrosisEnrichmentCALR0.82
415Muscular dystrophy-dystroglycanopathyEnrichmentGMPPB0.82
416Progressive familial intrahepatic cholestasisEnrichmentGLB10.82
417Polycystic kidney disease 1EnrichmentALG90.82
418Essential thrombocythemiaEnrichmentCALR0.82
419Hereditary clear cell renal cell carcinomaEnrichmentRNF1390.82
420Congenital muscular dystrophy due to dystroglycanopathyEnrichmentGMPPB0.82
421Connective tissue diseaseEnrichmentTRAPPC20.82
422Non-immune hydrops fetalisEnrichmentCTSA, NEU10.80
423ScoliosisEnrichmentARF30.78
424Peripheral nervous system diseaseEnrichmentDYNC1H1, NGLY10.78
425NeuropathyEnrichmentDYNC1H1, NGLY10.78
426Myopathy, tubular aggregate, 1EnrichmentDPAGT10.77
427Complex neurodevelopmental disorderEnrichmentANK2, SPTBN1, TRAPPC40.77
428Jeune thoracic dystrophyEnrichmentSPTAN10.76
429Auditory neuropathyEnrichmentTUBB4A0.75
430Nephrotic syndrome, type 1EnrichmentALG10.72
431Progressive non-fluent aphasiaEnrichmentVCP0.72
432Behavioral variant of frontotemporal dementiaEnrichmentVCP0.72
433Asphyxiating thoracic dystrophyEnrichmentSPTAN10.72
434Bardet-biedl syndromeEnrichmentTRAPPC30.71
435Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGOSR20.71
436Long qt syndrome 1EnrichmentANK20.69
437Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentVCP0.68
438Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentGFPT10.68
439Optic nerve diseaseEnrichmentSRD5A30.68
440Muscle eye brain diseaseEnrichmentGMPPB0.68
441Long qt syndromeEnrichmentANK20.68
442Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.66
443DystoniaEnrichmentARF30.63
444MyopathyEnrichmentDPM3, DYNC1H10.63
445Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.61
446SchizophreniaEnrichmentTRAPPC90.58
447Alzheimer's diseaseEnrichmentVCP0.58
448Benign epilepsy with centrotemporal spikesEnrichmentSPTAN10.57
449Hereditary spastic paraplegiaEnrichmentSPTAN10.57
450Centralopathic epilepsyEnrichmentSPTAN10.56
451Congenital myasthenic syndromeEnrichmentGFPT10.56
452Optic atrophy plus syndromeEnrichmentTUBB60.55
453Hereditary breast carcinomaEnrichmentDCTN50.55
454Renal cell carcinoma, nonpapillaryEnrichmentRNF1390.53
455Lynch syndromeEnrichmentGNE0.53
456Rare genetic intellectual disabilityEnrichmentALG130.53
457Creatine phosphokinase, elevated serumEnrichmentGMPPB0.51
458Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPMM20.51
459Isolated elevated serum creatine phosphokinase levelsEnrichmentGMPPB0.51
460Alzheimer disease, familial, 1EnrichmentVCP0.49
461Hereditary breast ovarian cancer syndromeEnrichmentDCTN50.47
462Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentDCTN10.45
463Congenital myopathyEnrichmentALG140.45
464Undetermined early-onset epileptic encephalopathyEnrichmentDHDDS, NUS10.43
465Focal segmental glomerulosclerosisEnrichmentPMM20.43
466AutismEnrichmentARF30.38
467Cone dystrophyEnrichmentSRD5A30.37
468Breast cancerEnrichmentDCTN50.36
469Colorectal cancerEnrichmentDCTN50.32
470Leber plus diseaseEnrichmentTUBB4B0.29
471Non-syndromic x-linked intellectual disabilityEnrichmentALG130.25
472Inherited cancer-predisposing syndromeEnrichmentDCTN50.20
473Familial isolated dilated cardiomyopathyEnrichmentDOLK0.15
474Primary ovarian insufficiencyEnrichmentPMM20.13
475Retinitis pigmentosaEnrichmentDHDDS, HK10.02
476Hereditary retinal dystrophyEnrichmentDHDDS, HK10.00
477Fundus dystrophyEnrichmentDHDDS, HK10.00

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