Synaptic vesicle pathway

No Pathway Network information available for Synaptic vesicle pathway

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

Disorders associated with Synaptic vesicle pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Undetermined early-onset epileptic encephalopathyEnrichmentATP1A2, CACNA1A, CACNA1B, CLTC, DNM15.69
2Alternating hemiplegia of childhoodEnrichmentATP1A2, CACNA1A, SLC1A35.56
3Alternating hemiplegia of childhood 1EnrichmentATP1A2, CACNA1A4.86
4Developmental and epileptic encephalopathy 2EnrichmentCACNA1A, SNAP254.08
5Familial or sporadic hemiplegic migraineEnrichmentATP1A2, CACNA1A4.08
6Lennox-gastaut syndromeEnrichmentCACNA1A, DNM13.42
7Presynaptic congenital myasthenic syndromesEnrichmentSLC18A3, SNAP253.13
8Stereotypic movement disorderEnrichmentDNM1, SNAP252.98
9Generalized epilepsy with febrile seizures plusEnrichmentSLC32A1, STX1B2.91
10AutismEnrichmentSTX1A, STXBP1, UNC13A2.60
11Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S12.42
12Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2EnrichmentSLC25A42.42
13Episodic ataxia, type 6EnrichmentSLC1A32.42
14Optic atrophy 5EnrichmentDNM1L2.42
15Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM22.42
16Encephalopathy due to defective mitochondrial and peroxisomal fission 1EnrichmentDNM1L2.42
17Diarrhea 12, with microvillus atrophyEnrichmentSTX32.42
18Mitochondrial dna depletion syndrome 12b , autosomal recessiveEnrichmentSLC25A42.42
19Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic faciesEnrichmentATP1A22.42
20Intellectual developmental disorder, x-linked 50EnrichmentSYN12.42
21Developmental and epileptic encephalopathy 117EnrichmentSNAP252.42
22Developmental and epileptic encephalopathy 63EnrichmentCPLX12.42
23Baker-gordon syndromeEnrichmentSYT12.42
24Ceroid lipofuscinosis, neuronal, 8EnrichmentCLN82.42
25Epilepsy, x-linked 1, with variable learning disabilities and behavior disordersEnrichmentSYN12.42
26Mitochondrial dna depletion syndrome 12a , autosomal dominantEnrichmentSLC25A42.42
27Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variantEnrichmentCLN82.42
28Cone-rod dystrophy 7EnrichmentRIMS12.42
29Deafness, autosomal dominant 25EnrichmentSLC17A82.42
30X-linked epilepsy with variable learning disabilities and behavior disordersEnrichmentSYN12.42
31Parkinson disease 7, autosomal recessive early-onsetEnrichmentPARK72.42
32Lethal congenital contracture syndrome 5EnrichmentDNM22.42
33Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP22.42
34Epilepsy with generalized tonic-clonic seizuresEnrichmentSNAP252.42
35Generalized epilepsy with febrile seizures plus, type 12EnrichmentSLC32A12.42
36Mitochondrial metabolism diseaseEnrichmentSLC25A42.42
37Developmental and epileptic encephalopathy 98EnrichmentATP1A22.42
38Retinal dystrophy and microvillus inclusion diseaseEnrichmentSTX32.42
39Generalized epilepsy with febrile seizures plus, type 9EnrichmentSTX1B2.42
40Congenital insensitivity to pain with severe intellectual disabilityEnrichmentCLTCL12.42
41Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM22.42
42Developmental and epileptic encephalopathy 114EnrichmentSLC32A12.42
43Sporadic hemiplegic migraineEnrichmentCACNA1A2.42
44Late infantile cln8 diseaseEnrichmentCLN82.42
45Encephalopathy due to mitochondrial and peroxisomal fission defectEnrichmentDNM1L2.42
46Benign paroxysmal torticollis of infancyEnrichmentCACNA1A2.42
47Auditory neuropathyEnrichmentCACNA1A, SLC17A82.37
48StrabismusEnrichmentCACNA1A, STXBP12.34
49Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1EnrichmentPARK72.12
50Sorsby fundus dystrophyEnrichmentSYN32.12
51Migraine, familial hemiplegic, 2EnrichmentATP1A22.12
52Obsessive-compulsive disorderEnrichmentSLC6A42.12
53Myoclonic epilepsy, familial infantileEnrichmentCPLX12.12
54Parkinsonism-dystonia 2, infantile-onsetEnrichmentSLC18A22.12
55Familial hemiplegic migraineEnrichmentATP1A22.12
56Developmental and epileptic encephalopathy 96EnrichmentNSF2.12
57Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M12.12
58Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B2.12
599q33.3q34.11 microdeletion syndromeEnrichmentSTXBP12.12
60Myasthenic syndrome, congenital, 21, presynapticEnrichmentSLC18A32.12
61Progressive bulbar palsyEnrichmentCACNA1A2.12
62Developmental and epileptic encephalopathyEnrichmentSNAP25, STXBP12.09
63EpilepsyEnrichmentATP1A2, SYN12.01
64Sengers syndromeEnrichmentSLC25A41.95
65Intellectual developmental disorder, x-linked 96EnrichmentSYP1.95
66Myopathy, centronuclear, x-linkedEnrichmentDNM21.95
67Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A1.95
68Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.95
69Developmental and epileptic encephalopathy 31bEnrichmentDNM11.95
70Gyrate atrophy of choroid and retinaEnrichmentRIMS11.95
71Microvillus inclusion diseaseEnrichmentSTX31.95
72Autosomal dominant optic atrophy, classic formEnrichmentDNM1L1.95
73Hereditary episodic ataxiaEnrichmentCACNA1A1.95
74West syndromeEnrichmentDNM1, STXBP11.93
75Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.83
76Spinocerebellar ataxia 6EnrichmentCACNA1A1.83
77Developmental and epileptic encephalopathy 4EnrichmentSTXBP11.83
78Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.83
79Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.83
80Generalized epilepsyEnrichmentSTX1B1.83
81Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.83
82Episodic ataxiaEnrichmentCACNA1A1.83
83Spastic ataxiaEnrichmentATP1A2, STXBP11.77
84Episodic ataxia, type 2EnrichmentCACNA1A1.73
85Developmental and epileptic encephalopathy 31aEnrichmentDNM11.73
86Myopathy, centronuclear, 1EnrichmentDNM21.65
87Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentSLC25A41.65
88Wolf-hirschhorn syndromeEnrichmentCPLX11.65
89AnxietyEnrichmentSLC6A41.65
90Parkinson disease 6, autosomal recessive early-onsetEnrichmentPARK71.65
91Inflammatory myofibroblastic tumorEnrichmentCLTC1.65
92Noonan syndrome 3EnrichmentCLTC1.58
93Renal cell carcinoma with mit translocationsEnrichmentCLTC1.58
94Focal epilepsyEnrichmentSNAP251.58
95Difference of sex developmentEnrichmentCACNA1A1.53
96Myoclonic-atonic epilepsyEnrichmentAP2M11.48
97Amyotrophic lateral sclerosis 1EnrichmentUNC13A1.43
98PolymicrogyriaEnrichmentATP1A21.43
99Migraine with or without aura 1EnrichmentCACNA1A1.39
100Mitochondrial myopathyEnrichmentSLC25A41.39
101Mitochondrial diseaseEnrichmentDNM1L, SLC25A41.37
102Early-onset parkinson's diseaseEnrichmentPARK71.35
103MyopiaEnrichmentSLC25A41.26
104Neuronal ceroid lipofuscinosisEnrichmentCLN81.26
105Syndromic intellectual disabilityEnrichmentSYT11.21
106Autism spectrum disorderEnrichmentRIMS1, STXBP11.20
107Early infantile developmental and epileptic encephalopathyEnrichmentSLC32A11.18
108Arteriovenous malformations of the brainEnrichmentSYN31.16
109Williams-beuren syndromeEnrichmentSTX1A1.14
110Centronuclear myopathyEnrichmentDNM21.12
111MicrocephalyEnrichmentSNAP25, STXBP11.11
112Cystic fibrosisEnrichmentSTX1A0.94
113Non-syndromic x-linked intellectual disabilityEnrichmentSYP0.90
114Fetal akinesia deformation sequence 1EnrichmentSLC18A30.89
115Cerebral palsyEnrichmentCACNA1A0.86
116MyopathyEnrichmentDNM20.85
117Charcot-marie-tooth diseaseEnrichmentDNM20.84
118Hypertrophic cardiomyopathyEnrichmentSLC25A40.82
119Optic atrophy plus syndromeEnrichmentSNAP250.82
120Body mass index quantitative trait locus 11EnrichmentDNM1L0.76
121Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC0.76
122Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentSLC17A80.75
123Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentUNC13A0.71
124SchizophreniaEnrichmentSYN20.70
125Cone-rod dystrophy 2EnrichmentRIMS10.65
126Congenital nervous system abnormalityEnrichmentCACNA1A0.48
127Nervous system diseaseEnrichmentCACNA1A0.48
128Hereditary retinal dystrophyEnrichmentSYN30.17
129Fundus dystrophyEnrichmentSYN30.17

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