mBDNF and proBDNF regulation of GABA neurotransmission

No Pathway Network information available for mBDNF and proBDNF regulation of GABA neurotransmission

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

Disorders associated with mBDNF and proBDNF regulation of GABA neurotransmission SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Childhood absence epilepsyEnrichmentGABRA1, GABRB3, GABRG26.39
2Undetermined early-onset epileptic encephalopathyEnrichmentGABRA2, GABRA5, GABRB2, GABRG2, NTRK26.34
3Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.64
4Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK2, STAT34.64
5Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R24.34
6HemimegalencephalyEnrichmentPIK3CA, PTEN4.12
7Cowden syndrome 1EnrichmentPIK3CA, PTEN3.94
8Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.94
9Lennox-gastaut syndromeEnrichmentGABRB3, GABRG23.67
10Cowden syndromeEnrichmentPIK3CA, PTEN3.57
11Dravet syndromeEnrichmentGABRA1, GABRG23.47
12Epilepsy, myoclonic juvenileEnrichmentGABRA1, GABRD3.38
13Epilepsy, idiopathic generalizedEnrichmentGABRA1, GABRD3.38
14MeningiomaEnrichmentPIK3CA, PTEN3.30
15Generalized epilepsy with febrile seizures plusEnrichmentGABRD, GABRG23.17
16Breast cancerEnrichmentPIK3CA, PTEN, SHC12.92
17Diffuse large b-cell lymphomaEnrichmentPTEN, STAT32.90
18Endometrial cancerEnrichmentPIK3CA, PTEN2.81
19MacrodactylyEnrichmentPIK3CA2.55
20Vacterl association with hydrocephalusEnrichmentPTEN2.55
21Febrile seizures, familial, 8EnrichmentGABRG22.55
22Megalencephaly, autosomal dominantEnrichmentPIK3CA2.55
23Epilepsy, idiopathic generalized 13EnrichmentGABRA12.55
24Cowden syndrome 5EnrichmentPIK3CA2.55
25Epilepsy, idiopathic generalized 14EnrichmentSLC12A52.55
26Cerebral cavernous malformations 4EnrichmentPIK3CA2.55
27Developmental and epileptic encephalopathy 58EnrichmentNTRK22.55
28Developmental and epileptic encephalopathy 74EnrichmentGABRG22.55
29Developmental and epileptic encephalopathy 79EnrichmentGABRA52.55
30Short syndromeEnrichmentPIK3R12.55
31Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.55
32Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic featuresEnrichmentGABRA32.55
33T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.55
34Epilepsy, idiopathic generalized 10EnrichmentGABRD2.55
35Papillary tumor of the pineal regionEnrichmentPTEN2.55
36Developmental and epileptic encephalopathy 19EnrichmentGABRA12.55
37Hemifacial myohyperplasiaEnrichmentPIK3CA2.55
38Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.55
39Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.55
40Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.55
41Epilepsy, childhood absence 5EnrichmentGABRB32.55
42Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.55
43Obesity, hyperphagia, and developmental delayEnrichmentNTRK22.55
44Glioma susceptibility 2EnrichmentPTEN2.55
45Developmental and epileptic encephalopathy 92EnrichmentGABRB22.55
46Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.55
47Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.55
48Developmental and epileptic encephalopathy 43EnrichmentGABRB32.55
49Developmental and epileptic encephalopathy 45EnrichmentGABRB12.55
50Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.55
51Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.55
52HypospadiasEnrichmentPIK3CA2.55
53Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.55
54Rare venous malformationEnrichmentPIK3CA2.55
55Diaphragmatic eventrationEnrichmentPIK3CA2.55
56Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.55
57Rare combined vascular malformationEnrichmentPIK3CA2.55
58Cavernous lymphangiomaEnrichmentPIK3CA2.55
59Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.55
60Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.55
61Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.55
62Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.55
63Eccrine angiomatous hamartomaEnrichmentPIK3CA2.55
64Macrodactyly of toeEnrichmentPIK3CA2.55
65Bladder cancerEnrichmentPIK3CA, PTEN2.53
66Prostate cancerEnrichmentPIK3CA, PTEN2.53
67EpilepsyEnrichmentGABRA1, GABRB32.25
68Histiocytoma, angiomatoid fibrousEnrichmentCREB12.25
69Keratosis, seborrheicEnrichmentPIK3CA2.25
70Developmental and epileptic encephalopathy 34EnrichmentSLC12A52.25
71Noonan syndrome 8EnrichmentPIK3CA2.25
72Thrombocythemia 3EnrichmentJAK22.25
73Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.25
74Developmental and epileptic encephalopathy 78EnrichmentGABRA22.25
75PolycythemiaEnrichmentJAK22.25
76Vacterl with hydrocephalusEnrichmentPTEN2.25
77Hypereosinophilic syndromeEnrichmentJAK22.25
78Juvenile polyposis of infancyEnrichmentPTEN2.25
79Gastric cancerEnrichmentPIK3CA, PTEN2.19
80Hereditary breast carcinomaEnrichmentPIK3CA, PTEN2.17
81Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.08
82Polycythemia veraEnrichmentJAK22.08
83Pompe disease, infantile-onsetEnrichmentPIK3CA2.08
84Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.08
85Hyper ige syndromeEnrichmentSTAT32.08
86Immunodeficiency 14EnrichmentPIK3R12.08
87Laryngeal squamous cell carcinomaEnrichmentPTEN2.08
88Melanoma of soft tissueEnrichmentCREB12.08
89Thyrotoxic periodic paralysisEnrichmentGABRA32.08
90KeratoacanthomaEnrichmentPIK3CA2.08
91Erythrocytosis, familial, 1EnrichmentJAK21.95
92Budd-chiari syndromeEnrichmentJAK21.95
93Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.95
94Autosomal dominant nocturnal frontal lobe epilepsyEnrichmentGABRG21.95
95Cerebrovascular diseaseEnrichmentPIK3CA1.95
96Familial cerebral cavernous malformationsEnrichmentPIK3CA1.95
97GliomaEnrichmentPTEN1.95
98Capillary malformations, congenitalEnrichmentPIK3CA1.86
99Macrocephaly/autism syndromeEnrichmentPTEN1.86
100Myeloproliferative neoplasmEnrichmentJAK21.86
101HemangiomaEnrichmentPTEN1.86
102Acute megakaryocytic leukemiaEnrichmentPTEN1.86
103Angelman syndromeEnrichmentGABRG31.78
104Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.78
105Alcohol dependenceEnrichmentGABRA21.78
106Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.78
107Epilepsy, childhood absence 1EnrichmentGABRB31.78
108Breast adenocarcinomaEnrichmentPIK3CA1.78
109Lung squamous cell carcinomaEnrichmentPIK3CA1.78
110Nevus, epidermalEnrichmentPIK3CA1.71
111Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.71
112MyelofibrosisEnrichmentJAK21.71
113Squamous cell carcinoma, head and neckEnrichmentPTEN1.71
114Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.71
115Essential thrombocythemiaEnrichmentJAK21.71
116Gallbladder cancerEnrichmentPIK3CA1.71
117Pilomyxoid astrocytomaEnrichmentNTRK21.71
118Follicular thyroid carcinomaEnrichmentPTEN1.71
119Overgrowth syndromeEnrichmentPIK3R11.71
120Permanent neonatal diabetes mellitusEnrichmentSTAT31.65
121Colorectal cancerEnrichmentPIK3CA, PIK3R11.61
122Leukemia, acute lymphoblastic 3EnrichmentJAK21.60
123Developmental and epileptic encephalopathy 14EnrichmentSLC12A51.60
124Arteriovenous malformationEnrichmentPIK3CA1.60
125Adult hepatocellular carcinomaEnrichmentPIK3CA1.60
126Congenital central hypoventilation syndromeEnrichmentBDNF1.60
127Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.56
128MelanomaEnrichmentPTEN1.56
129Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.56
130Meningioma, familialEnrichmentPTEN1.52
131Lung non-small cell carcinomaEnrichmentPIK3CA1.52
132Uterine corpus cancerEnrichmentPTEN1.52
133Ovarian cancerEnrichmentPIK3CA, PTEN1.49
134Lip and oral cavity carcinomaEnrichmentPIK3CA1.48
135Acute promyelocytic leukemiaEnrichmentSTAT31.45
136Chromosome 1p36 deletion syndromeEnrichmentGABRD1.45
137Nk-cell enteropathyEnrichmentPIK3CB1.45
138Lynch syndromeEnrichmentPIK3CA1.38
139RhabdomyosarcomaEnrichmentPTEN1.36
140Hepatocellular carcinomaEnrichmentPIK3CA1.22
141Lung cancerEnrichmentPIK3CA1.07
142Leukemia, acute myeloidEnrichmentJAK20.97
143Benign epilepsy with centrotemporal spikesEnrichmentGABRG20.96
144Centralopathic epilepsyEnrichmentGABRG20.94
145West syndromeEnrichmentNTRK20.93
146Body mass index quantitative trait locus 11EnrichmentBDNF0.88
147HypertelorismEnrichmentPIK3CA0.87
148Hereditary breast ovarian cancer syndromeEnrichmentPTEN0.84
149Myeloma, multipleEnrichmentPIK3R20.84
150SchizophreniaEnrichmentGABRB20.82
151Primary ovarian insufficiencyEnrichmentJAK20.82
152Congenital nervous system abnormalityEnrichmentPTEN0.59
153Nervous system diseaseEnrichmentPTEN0.59
154Autism spectrum disorderEnrichmentPTEN0.58
155Inherited cancer-predisposing syndromeEnrichmentPTEN0.51

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