Unblocking of NMDA receptors, glutamate binding and activation

Pathway network for the Unblocking of NMDA receptors, glutamate binding and activation SuperPath

Sources:
  • Reactome

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

Disorders associated with Unblocking of NMDA receptors, glutamate binding and activation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, ERBB4, GRIA1, GRIN1, GRIN2B9.59
2Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM36.69
3Long qt syndrome 1EnrichmentCALM1, CALM2, CALM34.84
4West syndromeEnrichmentGRIA3, GRIN1, GRIN2B4.33
5Complex neurodevelopmental disorderEnrichmentDLG4, GRIA4, GRIN2B3.00
6Long qt syndromeEnrichmentCALM1, CALM22.95
7DystoniaEnrichmentCAMK2B, GRIA32.84
8Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A2.79
9Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN22.79
10Charcot-marie-tooth disease, demyelinating, type 1fEnrichmentNEFL2.79
11Developmental and epileptic encephalopathy 27EnrichmentGRIN2B2.79
12Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.79
13Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.79
14Congenital myopathy 8EnrichmentACTN22.79
15Charcot-marie-tooth disease, dominant intermediate gEnrichmentNEFL2.79
16Intellectual developmental disorder, x-linked, syndromic, wu typeEnrichmentGRIA32.79
17Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN12.79
18Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B2.79
19Charcot-marie-tooth disease type 1fEnrichmentNEFL2.79
20Long qt syndrome 16EnrichmentCALM32.79
21Neurodevelopmental disorder with language impairment and behavioral abnormalitiesEnrichmentGRIA22.79
22Developmental and epileptic encephalopathy 101EnrichmentGRIN12.79
23Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN12.79
24Neurodevelopmental disorder with or without seizures and gait abnormalitiesEnrichmentGRIA42.79
25Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA12.79
26Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN22.79
27Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.79
28Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA12.79
29Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.79
30Long qt syndrome 15EnrichmentCALM22.79
31Syndromic x-linked intellectual disability 94EnrichmentGRIA32.79
32Charcot-marie-tooth disease type 2b5EnrichmentNEFL2.79
33Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B2.79
34Landau-kleffner syndromeEnrichmentGRIN2A2.79
35Intellectual disability, autosomal dominant 8EnrichmentGRIN12.79
36Gria2-related neurodevelopmental disorderEnrichmentGRIA22.79
37Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A2.79
38Grin2a-related disordersEnrichmentGRIN2A2.79
39Amyotrophic lateral sclerosis 19EnrichmentERBB42.75
40Thrombocytopenia 6EnrichmentSRC2.75
41EpilepsyEnrichmentGRIN2A, GRIN2B2.72
42Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, GRIN2A2.70
43Centralopathic epilepsyEnrichmentGRIN1, GRIN2A2.66
44Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM12.49
45Long qt syndrome 14EnrichmentCALM12.49
46Intellectual developmental disorder, x-linked 90EnrichmentDLG32.49
47Bilateral generalized polymicrogyriaEnrichmentGRIN12.49
48Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A2.49
49Developmental and epileptic encephalopathy 46EnrichmentGRIN2D2.49
50Vulto-van silfhout-de vries syndromeEnrichmentDLG42.49
51Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A2.49
52Epilepsy-aphasia spectrumEnrichmentGRIN2A2.49
53Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, GRIN12.41
54Heart defects, congenital, and other congenital anomaliesEnrichmentDLG42.31
55Auditory neuropathy and optic atrophyEnrichmentGRIN2C2.31
56Intellectual developmental disorder, autosomal dominant 62EnrichmentDLG42.31
57Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizuresEnrichmentDLG42.31
58Intrinsic cardiomyopathyEnrichmentACTN22.31
59Dlg4-related synaptopathyEnrichmentDLG42.31
60Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDLG42.19
61AstigmatismEnrichmentGRIN2B2.19
62Mulibrey nanismEnrichmentPPM1E2.19
63Charcot-marie-tooth disease, axonal, type 2eEnrichmentNEFL2.09
64Sleep disorderEnrichmentGRIN2B2.09
65Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM12.01
66MyelofibrosisEnrichmentSRC1.91
67Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.89
68Autism spectrum disorderEnrichmentGRIA1, GRIN2B1.88
69MicrocephalyEnrichmentCAMK2B, GRIN2B1.78
70Cleft lip/palateEnrichmentDLG11.65
71Nk-cell enteropathyEnrichmentERBB41.64
72OsteoporosisEnrichmentSRC1.61
73Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN21.59
74Sudden infant death syndromeEnrichmentCALM21.56
75Early infantile developmental and epileptic encephalopathyEnrichmentGRIN11.54
76Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentNEFL1.52
77CraniosynostosisEnrichmentGRIN2B1.50
78ScoliosisEnrichmentGRIN2B1.42
79Developmental and epileptic encephalopathy 1EnrichmentGRIN11.40
80Auditory neuropathyEnrichmentNEFL1.38
81Peripheral nervous system diseaseEnrichmentNEFL1.30
82NeuropathyEnrichmentNEFL1.30
83Familial hypertrophic cardiomyopathyEnrichmentACTN21.28
84Left ventricular noncompactionEnrichmentACTN21.26
85Non-syndromic x-linked intellectual disabilityEnrichmentDLG31.25
86Developmental and epileptic encephalopathyEnrichmentGRIA31.25
87Cerebral palsyEnrichmentGRIN2B1.21
88Charcot-marie-tooth diseaseEnrichmentNEFL1.19
89Hypertrophic cardiomyopathyEnrichmentACTN21.17
90Sensorineural hearing lossEnrichmentNEFL1.12
91Body mass index quantitative trait locus 11EnrichmentGRIA41.11
92ThrombocytopeniaEnrichmentSRC1.09
93Familial isolated dilated cardiomyopathyEnrichmentACTN21.08
94Undetermined early-onset epileptic encephalopathyEnrichmentGRIN2D1.06
95SchizophreniaEnrichmentDLG21.04
96Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentERBB41.01
97AutismEnrichmentCAMK2G0.96
98Dilated cardiomyopathyEnrichmentACTN20.91
99Colorectal cancerEnrichmentSRC0.84
100Congenital nervous system abnormalityEnrichmentCAMK2B0.80
101Nervous system diseaseEnrichmentCAMK2B0.80

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