Development A2B receptor- action via G-protein alpha s

No Pathway Network information available for Development A2B receptor- action via G-protein alpha s

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

Disorders associated with Development A2B receptor- action via G-protein alpha s SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome 1EnrichmentBRAF, HRAS, MAP2K1, MAP2K2, SOS1, SOS29.15
2RasopathyEnrichmentBRAF, HRAS, MAP2K1, MAP2K2, SOS1, SOS28.81
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, MAP2K1, MAP2K2, SOS18.31
4Lung non-small cell carcinomaEnrichmentBRAF, HRAS, MAP2K1, PIK3CA6.89
5Cardiofaciocutaneous syndrome 1EnrichmentBRAF, MAP2K1, MAP2K26.44
6Cardiofaciocutaneous syndromeEnrichmentBRAF, MAP2K1, MAP2K26.44
7Capillary malformations, congenitalEnrichmentGNA11, GNAQ, PIK3CA6.04
8Melanoma, uvealEnrichmentGNA11, GNAQ, PLCB45.74
9Gallbladder cancerEnrichmentBRAF, CTNNB1, PIK3CA5.50
10Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA5.13
11Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA4.97
12Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA4.71
13Pulmonic stenosisEnrichmentBRAF, SOS14.69
14Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A4.69
15Immune system diseaseEnrichmentCDC42, PIK3CD4.69
16Phakomatosis cesioflammeaEnrichmentGNA11, GNAQ4.69
17Langerhans cell histiocytosisEnrichmentBRAF, MAP2K14.21
18Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3CA4.21
19Anastomosing haemangiomaEnrichmentGNA11, GNAQ4.21
20Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA3.91
21CraniopharyngiomaEnrichmentBRAF, CTNNB13.91
22HemimegalencephalyEnrichmentAKT3, PIK3CA3.69
23Klippel-trenaunay-weber syndromeEnrichmentGNAQ, PIK3CA3.52
24Adrenocortical carcinomaEnrichmentCTNNB1, PRKAR1A3.52
25Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.52
26Bladder cancerEnrichmentCTNNB1, HRAS, PIK3CA3.52
27Nevus, epidermalEnrichmentHRAS, PIK3CA3.37
28Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS3.37
29Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA3.37
30Noonan syndrome 3EnrichmentHRAS, SOS13.37
31Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.37
32Follicular thyroid carcinomaEnrichmentBRAF, HRAS3.37
33Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS3.25
34Colorectal cancerEnrichmentAKT1, BRAF, CTNNB1, PIK3CA3.18
35Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB3.14
36Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA3.14
37Primary hyperaldosteronismEnrichmentBRAF, GNAS3.14
38Cowden syndromeEnrichmentAKT1, PIK3CA3.14
39Ventricular septal defectEnrichmentBRAF, RPS6KA33.14
40Type 2 diabetes mellitusEnrichmentAKT2, IL6, TCF7L23.04
41Specific learning disabilityEnrichmentMAPK1, RPS6KA32.96
42MeningiomaEnrichmentAKT1, PIK3CA2.88
43Arteriovenous malformations of the brainEnrichmentBRAF, IL62.48
44Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA2.35
45Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.34
46MacrodactylyEnrichmentPIK3CA2.34
47Proteus syndromeEnrichmentAKT12.34
48Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.34
49Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.34
50Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.34
51Noonan syndrome 4EnrichmentSOS12.34
52Pseudohypoparathyroidism, type icEnrichmentGNAS2.34
53Carney complex, type 1EnrichmentPRKAR1A2.34
54Melorheostosis, isolatedEnrichmentMAP2K12.34
55Megalencephaly, autosomal dominantEnrichmentPIK3CA2.34
56Osseous heteroplasia, progressiveEnrichmentGNAS2.34
57Noonan syndrome 7EnrichmentBRAF2.34
58Leopard syndrome 3EnrichmentBRAF2.34
59Cowden syndrome 5EnrichmentPIK3CA2.34
60Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.34
61Noonan syndrome 9EnrichmentSOS22.34
62Deafness, autosomal recessive 44EnrichmentADCY12.34
63Sturge-weber syndromeEnrichmentGNAQ2.34
64Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.34
65Cerebral cavernous malformations 4EnrichmentPIK3CA2.34
66Noonan syndrome 13EnrichmentMAPK12.34
67Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.34
68Immunodeficiency 92EnrichmentREL2.34
69Pituitary adenoma 3, multiple typesEnrichmentGNAS2.34
70Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.34
71Auriculocondylar syndrome 2aEnrichmentPLCB42.34
72Cardioacrofacial dysplasia 2EnrichmentPRKACB2.34
73Myxoma, intracardiacEnrichmentPRKAR1A2.34
74Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.34
75LymphangiomaEnrichmentBRAF2.34
76Hemifacial myohyperplasiaEnrichmentPIK3CA2.34
77Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.34
78Phace associationEnrichmentBRAF2.34
79MelorheostosisEnrichmentMAP2K12.34
80Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.34
81Hypocalcemia, autosomal dominant 2EnrichmentGNA112.34
82Cowden syndrome 6EnrichmentAKT12.34
83Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.34
84Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.34
85Disorders of gnas inactivationEnrichmentGNAS2.34
86Cardioacrofacial dysplasia 1EnrichmentPRKACA2.34
87Takenouchi-kosaki syndromeEnrichmentCDC422.34
88Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.34
89Immunodeficiency 53EnrichmentRELB2.34
90Epilepsy, familial adult myoclonic, 7EnrichmentRAPGEF22.34
91Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.34
92Auriculocondylar syndrome 2bEnrichmentPLCB42.34
93Adenoid ameloblastomaEnrichmentCTNNB12.34
94HypospadiasEnrichmentPIK3CA2.34
95Capillary hemangiomaEnrichmentAKT32.34
96Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.34
97Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.34
98Rare venous malformationEnrichmentPIK3CA2.34
99Diaphragmatic eventrationEnrichmentPIK3CA2.34
100Nocarh syndromeEnrichmentCDC422.34
101Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.34
102Syringocystadenoma papilliferumEnrichmentBRAF2.34
103Rare combined vascular malformationEnrichmentPIK3CA2.34
104GangliogliomaEnrichmentBRAF2.34
105Cavernous lymphangiomaEnrichmentPIK3CA2.34
106Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.34
107Nongerminomatous germ cell tumorEnrichmentBRAF2.34
108Monostotic fibrous dysplasiaEnrichmentGNAS2.34
109Phace syndromeEnrichmentBRAF2.34
110Phakomatosis pigmentokeratoticaEnrichmentHRAS2.34
111Classic hairy cell leukemiaEnrichmentBRAF2.34
112Phakomatosis cesiomarmorataEnrichmentGNA112.34
113Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.34
114Mazabraud syndromeEnrichmentGNAS2.34
115Eccrine angiomatous hamartomaEnrichmentPIK3CA2.34
116Macrodactyly of toeEnrichmentPIK3CA2.34
117Microcystic stromal tumorEnrichmentCTNNB12.34
118Akt2-related familial partial lipodystrophyEnrichmentAKT22.34
119Coffin-lowry syndromeEnrichmentRPS6KA32.34
120Fetal encasement syndromeEnrichmentCHUK2.34
12146,xy sex reversal 6EnrichmentMAP3K12.34
122Immunodeficiency 15bEnrichmentIKBKB2.34
123Immunodeficiency 15aEnrichmentIKBKB2.34
124Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.34
125Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.34
126Bartsocas-papas syndrome 2EnrichmentCHUK2.34
127Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.34
128Acute encephalopathy with biphasic seizures and late reduced diffusionEnrichmentADORA2A2.34
129Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.34
130Breast cancerEnrichmentAKT1, PIK3CA, SHC12.31
131Differentiated thyroid carcinomaEnrichmentBRAF, HRAS2.11
132Spinocerebellar ataxia 29EnrichmentITPR12.04
133Fibromatosis, gingival, 1EnrichmentSOS12.04
134Pseudohypoparathyroidism, type iaEnrichmentGNAS2.04
135Costello syndromeEnrichmentHRAS2.04
136Amelogenesis imperfecta, type igEnrichmentPRKAR1A2.04
137Cutis marmorata telangiectatica congenitaEnrichmentGNA112.04
138Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.04
139Histiocytoma, angiomatoid fibrousEnrichmentCREB12.04
140PseudopseudohypoparathyroidismEnrichmentGNAS2.04
141Keratosis, seborrheicEnrichmentPIK3CA2.04
142Roifman-chitayat syndromeEnrichmentPIK3CD2.04
143Bleeding disorder, platelet-type, 19EnrichmentPRKACG2.04
144Noonan syndrome 8EnrichmentPIK3CA2.04
145Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.04
146Immunodeficiency, common variable, 10EnrichmentNFKB22.04
147Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B2.04
148Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.04
149Usher syndrome, type ivEnrichmentPRKAR1A2.04
150Childhood hepatocellular carcinomaEnrichmentCTNNB12.04
151Rela fusion-positive ependymomaEnrichmentRELA2.04
152Senior-loken syndrome 7EnrichmentAKT32.04
153Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.04
154Autosomal dominant hypocalcemiaEnrichmentGNA112.04
155AcrodysostosisEnrichmentPRKAR1A2.04
156PseudohypoparathyroidismEnrichmentGNAS2.04
157Fibrolamellar carcinomaEnrichmentPRKACA2.04
158Ocular melanomaEnrichmentPLCB42.04
159Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B2.04
160Bardet-biedl syndrome 16EnrichmentAKT32.04
161Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.04
162Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A2.04
163Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS2.04
164TeratomaEnrichmentCTNNB12.04
165Common variable immunodeficiency 12EnrichmentNFKB12.04
166Tafro syndromeEnrichmentMAP2K22.04
167Wooly hair nevusEnrichmentHRAS2.04
168Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.04
169Lethal congenital contracture syndrome 8EnrichmentADCY62.04
170Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA2.04
171Lung cancerEnrichmentBRAF, PIK3CA2.03
172Ovarian cancerEnrichmentAKT1, CTNNB1, PIK3CA1.96
173Desmoid disease, hereditaryEnrichmentCTNNB11.86
174Mccune-albright syndromeEnrichmentGNAS1.86
175Ataxia-telangiectasiaEnrichmentBRAF1.86
176Gillespie syndromeEnrichmentITPR11.86
177Pompe disease, infantile-onsetEnrichmentPIK3CA1.86
178Nuchal bleb, familialEnrichmentSOS11.86
179Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.86
180Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD1.86
181Anus, imperforateEnrichmentCTNNB11.86
182Exudative vitreoretinopathy 7EnrichmentCTNNB11.86
183Tethered spinal cord syndromeEnrichmentBRAF1.86
184Large congenital melanocytic nevusEnrichmentHRAS1.86
185Desmoid tumorEnrichmentCTNNB11.86
186Immunodeficiency 14EnrichmentPIK3CD1.86
187SpermatocytomaEnrichmentHRAS1.86
188Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.86
189Melanoma of soft tissueEnrichmentCREB11.86
190KeratoacanthomaEnrichmentPIK3CA1.86
191Nasopharyngeal carcinomaEnrichmentNFKBIA1.86
192Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.86
193Hereditary breast carcinomaEnrichmentAKT1, PIK3CA1.76
194Kaposi sarcomaEnrichmentIL61.74
195Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.74
196Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.74
197Pseudohypoparathyroidism, type ibEnrichmentGNAS1.74
198Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.74
199Auriculocondylar syndrome 1EnrichmentPLCB41.74
200Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.74
201Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.74
202Immunodeficiency, common variable, 1EnrichmentNFKB21.74
203PilomatrixomaEnrichmentCTNNB11.74
204Carney complex variantEnrichmentPRKAR1A1.74
205Spinocerebellar ataxia 15EnrichmentITPR11.74
206Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.74
207Developmental and epileptic encephalopathy 12EnrichmentPLCB11.74
208Alazami syndromeEnrichmentCTNNB11.74
209Cerebrovascular diseaseEnrichmentPIK3CA1.74
210Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.74
211Noonan syndrome with multiple lentiginesEnrichmentBRAF1.74
212Newborn respiratory distress syndromeEnrichmentBRAF1.74
213Epidermolytic nevusEnrichmentHRAS1.74
214Familial cerebral cavernous malformationsEnrichmentPIK3CA1.74
215Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.74
216Gingival fibromatosisEnrichmentSOS11.74
217Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.74
218Alzheimer disease 2EnrichmentNOS31.64
219Exudative vitreoretinopathy 1EnrichmentCTNNB11.64
220Rheumatoid arthritis, systemic juvenileEnrichmentIL61.64
221Pre-eclampsiaEnrichmentNOS31.64
222HypertelorismEnrichmentPIK3CA, RPS6KA31.63
223Cowden syndrome 1EnrichmentPIK3CA1.57
224Weyers acrofacial dysostosisEnrichmentCTNNB11.57
225Hemihyperplasia, isolatedEnrichmentPIK3CA1.57
226Type 1 diabetes mellitusEnrichmentIL61.57
227Wilms tumor 5EnrichmentBRAF1.57
228Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.57
229Lung squamous cell carcinomaEnrichmentPIK3CA1.57
230BrachydactylyEnrichmentGNAS1.50
231Pilomyxoid astrocytomaEnrichmentBRAF1.50
232MegacolonEnrichmentAKT31.50
233Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.44
234Lymphoma, non-hodgkin, familialEnrichmentBRAF1.44
235Exudative vitreoretinopathyEnrichmentCTNNB11.44
236Gastroesophageal refluxEnrichmentRPS6KA31.44
237Orthostatic intoleranceEnrichmentRPS6KA31.44
238Lennox-gastaut syndromeEnrichmentMAPK101.44
239Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.39
240Inflammatory bowel disease 1EnrichmentIL61.39
241Developmental and epileptic encephalopathy 14EnrichmentPLCB11.39
242Stroke, ischemicEnrichmentNOS31.35
243Ciliary dyskinesia, primary, 3EnrichmentNFKB11.35
244PolymicrogyriaEnrichmentAKT31.35
245MelanomaEnrichmentBRAF1.35
246Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD1.35
24746,xy complete gonadal dysgenesisEnrichmentMAP3K11.31
248Congenital long qt syndromeEnrichmentITPR31.27
249Aortic valve disease 1EnrichmentSOS11.24
250Acute promyelocytic leukemiaEnrichmentPRKAR1A1.24
251Nk-cell enteropathyEnrichmentPIK3CB1.24
252Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.24
253Multiple sclerosisEnrichmentITPR11.21
254MedulloblastomaEnrichmentCTNNB11.21
255Lung cancer susceptibility 3EnrichmentBRAF1.21
25646,xy partial gonadal dysgenesisEnrichmentSOS11.21
257Wilms tumor 1EnrichmentBRAF1.18
258Anterior segment dysgenesisEnrichmentITPR11.18
259Lynch syndromeEnrichmentPIK3CA1.18
260RhabdomyosarcomaEnrichmentHRAS1.15
261GliosarcomaEnrichmentNFKBIA1.15
262Alzheimer disease, familial, 1EnrichmentNOS31.13
263Hypertension, essentialEnrichmentNOS31.13
264Melanoma, cutaneous malignant 1EnrichmentBRAF1.13
265Dandy-walker syndromeEnrichmentBRAF1.13
266Polycystic liver diseaseEnrichmentCTNNB11.13
267Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.13
268Giant cell glioblastomaEnrichmentNFKBIA1.13
269Heart, malformation ofEnrichmentMAPK11.10
270Diffuse large b-cell lymphomaEnrichmentBRAF1.08
271Endometrial cancerEnrichmentPIK3CA1.04
272HepatoblastomaEnrichmentCTNNB11.04
273MicrocephalyEnrichmentCTNNB1, MAPK10.96
274Hydrops fetalis, nonimmuneEnrichmentHRAS0.95
275Prostate cancerEnrichmentPIK3CA0.90
276Long qt syndrome 1EnrichmentITPR30.89
277Non-immune hydrops fetalisEnrichmentHRAS0.88
278Severe combined immunodeficiencyEnrichmentIKBKB0.85
279Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.82
280Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.77
281Centralopathic epilepsyEnrichmentPLCB10.75
282Gastric cancerEnrichmentPIK3CA0.75
283West syndromeEnrichmentPLCB10.74
284Body mass index quantitative trait locus 11EnrichmentGNAS0.69
285Spastic ataxiaEnrichmentITPR10.67
286Myeloma, multipleEnrichmentBRAF0.64
287Primary ovarian insufficiencyEnrichmentNOS30.62
288AutismEnrichmentTCF7L20.55
289Primary ciliary dyskinesiaEnrichmentPRKAR1B0.53
290Dilated cardiomyopathyEnrichmentBRAF0.51
291Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.47
292Congenital nervous system abnormalityEnrichmentCTNNB10.41
293Nervous system diseaseEnrichmentCTNNB10.41
294Autism spectrum disorderEnrichmentMAP2K10.40
295Complex neurodevelopmental disorderEnrichmentTCF7L20.36
296Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.34

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