Neuroinflammation and glutamatergic signaling

No Pathway Network information available for Neuroinflammation and glutamatergic signaling

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

Disorders associated with Neuroinflammation and glutamatergic signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR29.98
2Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, IL10RB, TGFB16.79
3Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR26.52
4Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR25.97
5Behcet syndromeEnrichmentIFNGR1, IL10, IL12A, TNFRSF1A4.43
6West syndromeEnrichmentGRIA3, GRIN1, GRIN2B, PLCB1, SLC2A14.07
7Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.98
8Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.98
9Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR23.91
10Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, GRIA1, GRIN1, GRIN2B3.80
11Psoriatic arthritisEnrichmentLTA, TNF3.50
12Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, STAT33.50
13Hepatitis bEnrichmentIFNGR1, IL10RB3.20
14Aortic aneurysmEnrichmentSMAD3, TGFBR13.20
15Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, GRIN2A, PLCB1, SLC2A13.09
16Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR23.03
17Centralopathic epilepsyEnrichmentGRIN1, GRIN2A, PLCB1, SLC2A13.01
18Inflammatory bowel disease 25, autosomal recessiveEnrichmentIL10RB, TGFB12.81
19Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.67
20Alternating hemiplegia of childhoodEnrichmentSLC1A3, SLC2A12.55
21Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, GRIK2, GRIN1, GRM72.52
22AsthmaEnrichmentIL13, TNF2.26
23EpilepsyEnrichmentGRIN2A, GRIN2B, SLC2A12.09
24MicrocephalyEnrichmentCAMK2B, GRIN2B, GRM7, MAPK1, SLC2A12.05
25Type 2 diabetes mellitusEnrichmentIL6, INSR, IRS12.04
26Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.99
27Proteus syndromeEnrichmentAKT11.99
28Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS11.99
29Neu-laxova syndrome 1EnrichmentPHGDH1.99
30Donohue syndromeEnrichmentINSR1.99
31Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A1.99
32Dicarboxylic aminoaciduriaEnrichmentSLC1A11.99
33Helicobacter pylori infectionEnrichmentIFNGR11.99
34Phosphoglycerate dehydrogenase deficiencyEnrichmentPHGDH1.99
35Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.99
36Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.99
37Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.99
38Leprosy 4EnrichmentLTA1.99
39Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A11.99
40Dermatitis, atopic, 4EnrichmentSOCS31.99
41Episodic ataxia, type 6EnrichmentSLC1A31.99
42Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.99
43Deafness, autosomal recessive 44EnrichmentADCY11.99
44Developmental and epileptic encephalopathy 41EnrichmentSLC1A21.99
45Developmental and epileptic encephalopathy 27EnrichmentGRIN2B1.99
46Spinocerebellar ataxia, autosomal recessive 13EnrichmentGRM11.99
47Immunodeficiency 27aEnrichmentIFNGR11.99
48Schizophrenia 18EnrichmentSLC1A11.99
49Immunodeficiency 69EnrichmentIFNG1.99
50Stuve-wiedemann syndrome 2EnrichmentIL6ST1.99
51Noonan syndrome 13EnrichmentMAPK11.99
52Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST1.99
53Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.99
54Neurodevelopmental disorder with impaired language and ataxia and with or without seizuresEnrichmentGRIK21.99
55Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT61.99
56Casgid syndromeEnrichmentGLS1.99
57Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.99
58Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.99
59Intellectual developmental disorder, x-linked, syndromic, wu typeEnrichmentGRIA31.99
60Progressive familial heart block, type ibEnrichmentTRPM41.99
61Graft-versus-host diseaseEnrichmentIL101.99
62Auriculocondylar syndrome 2aEnrichmentPLCB41.99
63Erythrokeratodermia variabilis et progressiva 6EnrichmentTRPM41.99
64Phosphoserine aminotransferase deficiencyEnrichmentPSAT11.99
65T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.99
66Developmental and epileptic encephalopathy 102EnrichmentSLC38A31.99
67Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.99
68Allergic rhinitisEnrichmentIL131.99
69Intellectual developmental disorder, autosomal recessive 6EnrichmentGRIK21.99
70Immunodeficiency 27bEnrichmentIFNGR11.99
71Camurati-engelmann disease 2EnrichmentTGFB21.99
72Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN11.99
73Spinocerebellar ataxia 14EnrichmentPRKCG1.99
74Developmental and epileptic encephalopathy 71EnrichmentGLS1.99
75Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.99
76Agammaglobulinemia 5, autosomal dominantEnrichmentLRRC8A1.99
77Aspartate aminotransferase, serum level of, quantitative trait locus 1EnrichmentGOT11.99
78Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B1.99
79Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R1.99
80Epilepsy, idiopathic generalized 12EnrichmentSLC2A11.99
81Immunodeficiency 31aEnrichmentSTAT11.99
82Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R1.99
83Multiple sclerosis 5EnrichmentTNFRSF1A1.99
84Immunodeficiency 29EnrichmentIL12B1.99
85Cowden syndrome 6EnrichmentAKT11.99
86Phosphoserine phosphatase deficiencyEnrichmentPSPH1.99
87Neurodevelopmental disorder with language impairment and behavioral abnormalitiesEnrichmentGRIA21.99
88Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R1.99
89Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesEnrichmentSHMT21.99
90Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.99
91Loeys-dietz syndrome 6EnrichmentSMAD21.99
92Colorectal cancer 3EnrichmentSMAD71.99
93Developmental and epileptic encephalopathy 101EnrichmentGRIN11.99
94Immunodeficiency 31bEnrichmentSTAT11.99
95Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN11.99
96Neurodevelopmental disorder with or without seizures and gait abnormalitiesEnrichmentGRIA41.99
97Loeys-dietz syndrome 5EnrichmentTGFB31.99
98Glycine encephalopathy with normal serum glycineEnrichmentSLC6A91.99
99Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.99
100Cardioacrofacial dysplasia 1EnrichmentPRKACA1.99
101Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.99
102Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST1.99
103Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST1.99
104Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA11.99
105Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.99
106Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.99
107Spinocerebellar ataxia 44EnrichmentGRM11.99
108Developmental and epileptic encephalopathy 116EnrichmentGLUL1.99
109Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesEnrichmentGRM71.99
110Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.99
111Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA11.99
112Auriculocondylar syndrome 2bEnrichmentPLCB41.99
113Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.99
114Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.99
115Neu-laxova syndrome 2EnrichmentPSAT11.99
116Heritable thoracic aortic diseaseEnrichmentSMAD41.99
117Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short statureEnrichmentLRRC8C1.99
118Syndromic x-linked intellectual disability 94EnrichmentGRIA31.99
119Hot water epilepsyEnrichmentSLC1A11.99
120Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B1.99
121Spastic ataxia-dysarthria due to glutaminase deficiencyEnrichmentGLS1.99
122Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.99
123Landau-kleffner syndromeEnrichmentGRIN2A1.99
124Epilepsy with myoclonic absencesEnrichmentSLC2A11.99
125Intellectual disability, autosomal dominant 8EnrichmentGRIN11.99
126Neurometabolic disorder due to serine deficiencyEnrichmentPSAT11.99
127Gria2-related neurodevelopmental disorderEnrichmentGRIA21.99
128Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A1.99
129Grin2a-related disordersEnrichmentGRIN2A1.99
130Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiencyEnrichmentIFNGR21.99
131Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiencyEnrichmentPSPH1.99
132Chondromyxoid fibromaEnrichmentGRM11.99
133Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.99
134Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.99
135Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A11.99
136Human immunodeficiency virus type 1EnrichmentIFNG, IL101.84
137Early infantile developmental and epileptic encephalopathyEnrichmentGRIN1, GRM71.84
138Body mass index quantitative trait locus 11EnrichmentADCY3, BDNF, GRIA41.83
139Undetermined early-onset epileptic encephalopathyEnrichmentGRIN2D, SLC1A2, SLC38A31.70
140Myhre syndromeEnrichmentSMAD41.69
141Camurati-engelmann disease 1EnrichmentTGFB11.69
142Alexander diseaseEnrichmentGFAP1.69
143Hemangiopericytoma, malignantEnrichmentSTAT61.69
144Dihydrolipoamide dehydrogenase deficiencyEnrichmentDLD1.69
145Dystonia 9EnrichmentSLC2A11.69
146Histiocytoma, angiomatoid fibrousEnrichmentCREB11.69
147Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA1.69
148Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.69
149Microvascular complications of diabetes 5EnrichmentTGFBR21.69
150Glutamine deficiency, congenitalEnrichmentGLUL1.69
151Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.69
152Glut1 deficiency syndrome 1EnrichmentSLC2A11.69
153Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.69
154Schizophrenia 9EnrichmentDISC11.69
155Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentDLD1.69
156Pyruvate dehydrogenase e2 deficiencyEnrichmentDLAT1.69
157Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.69
158Immunodeficiency, common variable, 10EnrichmentNFKB21.69
159Spastic paraplegia, intellectual disability, nystagmus, and obesityEnrichmentGFAP1.69
160Long qt syndrome 14EnrichmentCALM11.69
161Loeys-dietz syndrome 3EnrichmentSMAD31.69
162Hypogonadotropic hypogonadism 9 with or without anosmiaEnrichmentNSMF1.69
163Immunodeficiency 31cEnrichmentSTAT11.69
164Global developmental delay, progressive ataxia, and elevated glutamineEnrichmentGLS1.69
165Spastic tetraplegia, thin corpus callosum, and progressive microcephalyEnrichmentSLC1A41.69
166Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.69
167Intravascular large b-cell lymphomaEnrichmentBCL21.69
168Immunodeficiency 127EnrichmentTNF1.69
169Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.69
170Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.69
171Developmental and epileptic encephalopathy 16EnrichmentGLUL1.69
172Bilateral generalized polymicrogyriaEnrichmentGRIN11.69
173Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A1.69
174Developmental and epileptic encephalopathy 46EnrichmentGRIN2D1.69
175Camurati-engelmann diseaseEnrichmentTGFB11.69
176Inflammatory bowel disease 28EnrichmentIL10RA1.69
177Body mass index quantitative trait locus 19EnrichmentADCY31.69
178Fibrolamellar carcinomaEnrichmentPRKACA1.69
179Ocular melanomaEnrichmentPLCB41.69
180Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.69
181Congenital brain dysgenesis due to glutamine synthetase deficiencyEnrichmentGLUL1.69
182Intermittent hydrarthrosisEnrichmentTNFRSF1A1.69
183Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A1.69
184Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.69
185Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeEnrichmentSLC1A41.69
186Common variable immunodeficiency 12EnrichmentNFKB11.69
187Epilepsy-aphasia spectrumEnrichmentGRIN2A1.69
188Cerebral visual impairmentEnrichmentGRIK21.69
189ScoliosisEnrichmentGFAP, GRIN2B1.60
190Developmental and epileptic encephalopathy 1EnrichmentGRIN1, SLC2A11.57
191Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.51
192Juvenile polyposis syndromeEnrichmentSMAD41.51
193Takayasu arteritisEnrichmentIL12B1.51
194Mycosis fungoidesEnrichmentTNFRSF1B1.51
195Tuberous sclerosis 1EnrichmentIFNG1.51
196Stuve-wiedemann syndrome 1EnrichmentIL6ST1.51
197Glut1 deficiency syndrome 2EnrichmentSLC2A11.51
198Hepatitis c virusEnrichmentIFNG1.51
199Tuberous sclerosis 2EnrichmentIFNG1.51
200Immunodeficiency 28EnrichmentIFNGR21.51
201Auditory neuropathy and optic atrophyEnrichmentGRIN2C1.51
202Hyper ige syndromeEnrichmentSTAT31.51
203High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL21.51
204Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.51
205Inflammatory bowel disease 25EnrichmentIL10RB1.51
206Migraine without auraEnrichmentTNF1.51
207Melanoma of soft tissueEnrichmentCREB11.51
208Stüve-wiedemann syndromeEnrichmentIL6ST1.51
209Saczary syndromeEnrichmentTNFRSF1B1.51
210Kaposi sarcomaEnrichmentIL61.39
211Huntington diseaseEnrichmentSLC2A31.39
212Pyruvate dehydrogenase e1-alpha deficiencyEnrichmentPDHA11.39
213AstigmatismEnrichmentGRIN2B1.39
214Auriculocondylar syndrome 1EnrichmentPLCB41.39
215Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.39
216Immunodeficiency, common variable, 1EnrichmentNFKB21.39
217Developmental and epileptic encephalopathy 12EnrichmentPLCB11.39
218Congenital generalized lipodystrophyEnrichmentFOS1.39
219Hereditary ataxiaEnrichmentPRKCG1.39
220Idiopathic achalasiaEnrichmentNOS11.39
221Hereditary progressive cardiac conduction defectEnrichmentTRPM41.39
222Cerebral malariaEnrichmentTNF1.39
223Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.39
224Atypical glycine encephalopathyEnrichmentSLC6A91.39
225Connective tissue diseaseEnrichmentSMAD3, TGFBR21.37
226DystoniaEnrichmentCAMK2B, GRIA31.30
227Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.30
228Rheumatoid arthritis, systemic juvenileEnrichmentIL61.30
229Insulin-like growth factor iEnrichmentIGF11.30
230Follicular lymphomaEnrichmentBCL21.30
231Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.30
232Histiocytoid hemangiomaEnrichmentFOS1.30
233Vascular dementiaEnrichmentTNF1.30
234Sleep disorderEnrichmentGRIN2B1.30
235Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.30
236Idiopathic aplastic anemiaEnrichmentIFNG1.30
237Familial cerebral saccular aneurysmEnrichmentTGFBR31.30
238Atrial septal defect 1EnrichmentTGFB21.22
239Melanoma, uvealEnrichmentPLCB41.22
240Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.22
241Metachromatic leukodystrophyEnrichmentGFAP1.22
242Type 1 diabetes mellitusEnrichmentIL61.22
243Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.22
244Chronic mucocutaneous candidiasisEnrichmentSTAT11.22
245Breast adenocarcinomaEnrichmentAKT11.22
246Classic ehlers-danlos syndromeEnrichmentTGFBR11.22
24746,xy disorder of sex developmentEnrichmentINSR1.22
248Systemic lupus erythematosusEnrichmentIL10, TNF1.21
249Esophageal cancerEnrichmentTGFBR21.15
250Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF1.15
251Gallbladder cancerEnrichmentSMAD41.15
252Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.15
253Paroxysmal dystoniaEnrichmentSLC2A11.15
254Gastric cancerEnrichmentIL1B, SMAD41.14
255Erythrokeratodermia variabilis et progressiva 1EnrichmentTRPM41.10
256Glycine encephalopathy 1EnrichmentSLC6A91.10
257Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.10
258Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM11.10
259Permanent neonatal diabetes mellitusEnrichmentSTAT31.10
260Rheumatoid arthritisEnrichmentIL101.05
261Charge syndromeEnrichmentTNFRSF1A1.05
262Ellis-van creveld syndromeEnrichmentPRKACA1.05
263Inflammatory bowel disease 1EnrichmentIL61.05
264Myoclonic-atonic epilepsyEnrichmentSLC2A11.05
265Developmental and epileptic encephalopathy 14EnrichmentPLCB11.05
266Congenital central hypoventilation syndromeEnrichmentBDNF1.05
267Primary biliary cholangitisEnrichmentIL12A1.05
268Cowden syndromeEnrichmentAKT11.05
269Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.05
270Ciliary dyskinesia, primary, 3EnrichmentNFKB11.01
271Aplastic anemiaEnrichmentIFNG1.01
272Autosomal non-syndromic agammaglobulinemiaEnrichmentLRRC8A1.01
273Pectus excavatumEnrichmentTGFBR10.97
274Specific learning disabilityEnrichmentMAPK10.97
275MeningiomaEnrichmentAKT10.93
276Lactic acidosisEnrichmentDLD0.93
277Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.93
278Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.93
279Acute promyelocytic leukemiaEnrichmentSTAT30.90
280Alzheimer's diseaseEnrichmentTNF0.90
281Multiple sclerosisEnrichmentTNFRSF1A0.87
282Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.87
283Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.87
284Pituitary stalk interruption syndromeEnrichmentNSMF0.87
285Complex neurodevelopmental disorderEnrichmentGRIA4, GRIK2, GRIN2B0.86
286Lynch syndromeEnrichmentTGFBR20.84
287Dandy-walker syndromeEnrichmentPPP1CB0.79
288Sudden infant death syndromeEnrichmentPDHA10.79
289AutismEnrichmentCAMK2G, DISC10.77
290Heart, malformation ofEnrichmentMAPK10.77
291Normosmic congenital hypogonadotropic hypogonadismEnrichmentNSMF0.77
292Arteriovenous malformations of the brainEnrichmentIL60.75
293Diffuse large b-cell lymphomaEnrichmentSTAT30.75
294Esophageal atresia/tracheoesophageal fistulaEnrichmentGLS0.75
295CraniosynostosisEnrichmentGRIN2B0.73
296Myocardial infarctionEnrichmentLTA0.69
297Noonan syndrome 1EnrichmentPPP1CB0.67
298MalariaEnrichmentTNF0.67
299Autoinflammatory diseaseEnrichmentTNFRSF1A0.66
300Colorectal cancerEnrichmentAKT1, SMAD40.65
301Pancreatic cancerEnrichmentSMAD40.64
302Brugada syndromeEnrichmentTRPM40.63
303RasopathyEnrichmentPPP1CB0.63
304StrabismusEnrichmentSLC2A10.61
305Severe covid-19EnrichmentIL10RB0.58
306Long qt syndrome 1EnrichmentCALM10.57
307Long qt syndromeEnrichmentCALM10.56
308Cystic fibrosisEnrichmentTGFB10.55
309Peripheral nervous system diseaseEnrichmentNGF0.55
310NeuropathyEnrichmentNGF0.55
311Autism spectrum disorderEnrichmentGRIA1, GRIN2B0.51
312Developmental and epileptic encephalopathyEnrichmentGRIA30.51
313Cerebral palsyEnrichmentGRIN2B0.48
314Hereditary breast carcinomaEnrichmentAKT10.44
315ThrombocytopeniaEnrichmentSMAD40.41
316Myeloma, multipleEnrichmentTRAF50.36
317Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentDAO0.34
318Breast cancerEnrichmentAKT10.27
319Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.22
320Ovarian cancerEnrichmentAKT10.19
321Congenital nervous system abnormalityEnrichmentCAMK2B0.17
322Nervous system diseaseEnrichmentCAMK2B0.17
323Inherited cancer-predisposing syndromeEnrichmentSMAD40.13

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