G-AlphaQ Signaling

Pathway network for the G-AlphaQ Signaling SuperPath

Sources:
  • QIAGEN
  • PubChem

Pathways in the G-AlphaQ Signaling SuperPath

#NameSourceGenes
1G-AlphaQ SignalingQIAGEN
2Thrombin SignalingQIAGEN
3G-AlphaI SignalingQIAGEN
4PAR4-mediated thrombin signaling eventsPubChem

Gene overlap in member pathways for G-AlphaQ Signaling SuperPath

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

Disorders associated with G-AlphaQ Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS110.79
3Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.61
4Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K28.43
5Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K28.43
6Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS7.91
7Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS16.90
8Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF16.60
9Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS6.32
10Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.72
11Nevus, epidermalEnrichmentHRAS, KRAS, NRAS4.79
12Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS4.79
13Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF14.79
14Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS4.79
15Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.22
16Pulmonic stenosisEnrichmentBRAF, SOS14.21
17Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.21
18Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS4.13
19Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS4.00
20Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.96
21Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.74
22Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR33.59
23Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R13.48
24Anastomosing haemangiomaEnrichmentGNA11, GNA143.48
25Cerebral palsyEnrichmentF2, GNB13.45
26Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.44
27Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.44
28Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.19
29Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.19
30Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB43.19
31Achromatopsia 4EnrichmentGNAI3, GNAT23.19
32Prothrombin deficiency, congenitalEnrichmentF23.13
33Pregnancy loss, recurrent 2EnrichmentF23.13
34Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA3.13
35Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB13.13
36Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA3.13
37Prothrombin deficiencyEnrichmentF23.13
38Congenital heart defects, multiple types, 4EnrichmentGATA4, GATA62.97
39Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K12.90
40Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.90
41Gallbladder cancerEnrichmentBRAF, KRAS2.90
42Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL22.83
43Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL22.83
44Cerebral visual impairmentEnrichmentGNB12.83
45Breast adenocarcinomaEnrichmentAKT1, KRAS2.80
46Melanoma, uvealEnrichmentGNA11, PLCB42.79
47Lung squamous cell carcinomaEnrichmentEGFR, KRAS2.79
48Familial atrial fibrillationEnrichmentGATA4, GATA5, GATA62.70
49Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.67
50Arteriovenous malformationEnrichmentHRAS, MAP2K12.67
51Cerebral sinovenous thrombosisEnrichmentF22.66
52Tetralogy of fallotEnrichmentGATA4, GATA5, GATA62.60
53Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K12.57
54Bladder cancerEnrichmentEGFR, HRAS, KRAS2.46
55Lip and oral cavity carcinomaEnrichmentBRAF, HRAS2.41
56Hemihyperplasia, isolatedEnrichmentRHOA2.35
57Acute promyelocytic leukemiaEnrichmentPRKAR1A, STAT32.34
58Stroke, ischemicEnrichmentF2, PRKCH2.33
59Thrombophilia due to thrombin defectEnrichmentF22.29
60Familial isolated restrictive cardiomyopathyEnrichmentMYL22.29
61Lung cancer susceptibility 3EnrichmentBRAF, KRAS2.28
62Glycogen storage diseaseEnrichmentGYS1, GYS22.25
63Myelodysplastic syndromeEnrichmentGATA2, GNB12.24
64DystoniaEnrichmentCAMK2B, GNAL, GNB12.23
65HypothyroidismEnrichmentGNB12.23
66Hypertension, essentialEnrichmentGNB3, RGS52.11
67Dandy-walker syndromeEnrichmentBRAF, PPP1CB2.11
68Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.10
69Oculoectodermal syndromeEnrichmentKRAS2.10
70Developmental and epileptic encephalopathy 8EnrichmentARHGEF92.10
71Noonan syndrome 5EnrichmentRAF12.10
72Noonan syndrome 4EnrichmentSOS12.10
73Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.10
74Carney complex, type 1EnrichmentPRKAR1A2.10
75Melorheostosis, isolatedEnrichmentMAP2K12.10
76Noonan syndrome 7EnrichmentBRAF2.10
77Leopard syndrome 3EnrichmentBRAF2.10
78Cardiomyopathy, dilated, 1nnEnrichmentRAF12.10
79Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.10
80Melanosis, neurocutaneousEnrichmentNRAS2.10
81Noonan syndrome 9EnrichmentSOS22.10
82Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY52.10
83Noonan syndrome 6EnrichmentNRAS2.10
84Deafness, autosomal recessive 44EnrichmentADCY12.10
85Pulmonary hypertension, primary, 3EnrichmentCAV12.10
86Ventricular tachycardia, familialEnrichmentGNAI22.10
87Immunodeficiency 62EnrichmentARHGEF12.10
88Noonan syndrome 11EnrichmentMRAS2.10
89Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.10
90Noonan syndrome 13EnrichmentMAPK12.10
91Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF22.10
92Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY52.10
93Intellectual developmental disorder, x-linked 46EnrichmentARHGEF62.10
94Cardioacrofacial dysplasia 2EnrichmentPRKACB2.10
95T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.10
96Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.10
97Myxoma, intracardiacEnrichmentPRKAR1A2.10
98Lipodystrophy, familial partial, type 7EnrichmentCAV12.10
99Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF102.10
100Prolonged electroretinal response suppression 1EnrichmentRGS92.10
101Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.10
102Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY52.10
103LymphangiomaEnrichmentBRAF2.10
104Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.10
105Phace associationEnrichmentBRAF2.10
106MelorheostosisEnrichmentMAP2K12.10
107Leopard syndrome 2EnrichmentRAF12.10
108Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.10
109Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.10
110Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.10
111Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF152.10
112Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.10
113Cardioacrofacial dysplasia 1EnrichmentPRKACA2.10
114Thrombocytopenia 6EnrichmentSRC2.10
115Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.10
116Sick sinus syndrome 4EnrichmentGNB22.10
117TrigonitisEnrichmentRAF12.10
118Immunodeficiency 129EnrichmentRHOH2.10
119T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH2.10
120Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.10
121Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.10
122Congenital pulmonary airway malformationEnrichmentKRAS2.10
123Syringocystadenoma papilliferumEnrichmentBRAF2.10
124GangliogliomaEnrichmentBRAF2.10
125Nongerminomatous germ cell tumorEnrichmentBRAF2.10
126Phace syndromeEnrichmentBRAF2.10
127Phakomatosis pigmentokeratoticaEnrichmentHRAS2.10
128Classic hairy cell leukemiaEnrichmentBRAF2.10
129Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.10
130Neurocutaneous melanocytosisEnrichmentNRAS2.10
131Protein-deficiency anemiaEnrichmentGATA1, NRAS2.10
132Leukemia, acute lymphoblasticEnrichmentGNB12.09
133Leukemia, acute myeloidEnrichmentGATA2, KRAS, NRAS2.07
134Aortic aneurysm, familial thoracic 1EnrichmentGATA4, MYLK2.03
135Arteriovenous malformations of the brainEnrichmentBRAF, KRAS2.02
136Diffuse large b-cell lymphomaEnrichmentBRAF, STAT32.02
137Heart diseaseEnrichmentMYL21.99
138Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.98
139Proteus syndromeEnrichmentAKT11.98
140Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.98
141Pallister-killian syndromeEnrichmentARAF1.98
142Incontinentia pigmentiEnrichmentIKBKG1.98
143Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.98
144Cardiac valvular dysplasia 1EnrichmentPLD11.98
145Fetal encasement syndromeEnrichmentCHUK1.98
146Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.98
147Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.98
148Immunodeficiency 15bEnrichmentIKBKB1.98
149Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.98
150Immunodeficiency 15aEnrichmentIKBKB1.98
151Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.98
152Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.98
153Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.98
154Short syndromeEnrichmentPIK3R11.98
155Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.98
156Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.98
157Auriculocondylar syndrome 2aEnrichmentPLCB41.98
158Isolated growth hormone deficiency type iiiEnrichmentBTK1.98
159Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.98
160Spinocerebellar ataxia 14EnrichmentPRKCG1.98
161Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.98
162Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.98
163Long qt syndrome 16EnrichmentCALM31.98
164Cowden syndrome 6EnrichmentAKT11.98
165Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.98
166Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.98
167Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.98
168Bartsocas-papas syndrome 2EnrichmentCHUK1.98
169Auriculocondylar syndrome 2bEnrichmentPLCB41.98
170Long qt syndrome 15EnrichmentCALM21.98
171Capillary hemangiomaEnrichmentAKT31.98
172Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.98
173Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.98
174Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.98
175Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT51.98
176Akt2-related familial partial lipodystrophyEnrichmentAKT21.98
177Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.98
178Anemia, congenital, nonspherocytic hemolytic, 9EnrichmentGATA11.98
179Thrombocytopenia, x-linked, with or without dyserythropoietic anemiaEnrichmentGATA11.98
180Thrombocytopenia with beta-thalassemia, x-linkedEnrichmentGATA11.98
181Hypomagnesemia 4, renalEnrichmentEGF1.98
182Pseudohypoparathyroidism, type icEnrichmentGNAS1.98
183Osseous heteroplasia, progressiveEnrichmentGNAS1.98
184Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.98
185Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.98
186Atrioventricular septal defect 4EnrichmentGATA41.98
187Atrioventricular septal defect 5EnrichmentGATA61.98
188Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.98
189Pituitary adenoma 3, multiple typesEnrichmentGNAS1.98
190Congenital heart defects, multiple types, 5EnrichmentGATA51.98
191Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.98
192Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.98
193Anemia, x-linked, with or without neutropenia and/or platelet abnormalitiesEnrichmentGATA11.98
194Lymphedema, primary, with myelodysplasiaEnrichmentGATA21.98
195Developmental and epileptic encephalopathy 17EnrichmentGNAO11.98
196Atrial septal defect 2EnrichmentGATA41.98
197Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.98
198Immunodeficiency 21EnrichmentGATA21.98
199Dystonia 25EnrichmentGNAL1.98
200Night blindness, congenital stationary, type 1gEnrichmentGNAT11.98
201Hypocalcemia, autosomal dominant 2EnrichmentGNA111.98
202Testicular anomalies with or without congenital heart diseaseEnrichmentGATA41.98
203Disorders of gnas inactivationEnrichmentGNAS1.98
204Atrial septal defect 9EnrichmentGATA61.98
2058p23.1 microdeletion syndromeEnrichmentGATA41.98
206Deafness-lymphedema-leukemia syndromeEnrichmentGATA21.98
207Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.98
208Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.98
209Acute megakaryoblastic leukemia in children with down syndromeEnrichmentGATA11.98
210Thrombocytopenia with congenital dyserythropoietic anemiaEnrichmentGATA11.98
211Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA41.98
212Monostotic fibrous dysplasiaEnrichmentGNAS1.98
213Gnao1-related disorderEnrichmentGNAO11.98
214Phakomatosis cesiomarmorataEnrichmentGNA111.98
215Kaposiform hemangioendotheliomaEnrichmentGNA141.98
216Mazabraud syndromeEnrichmentGNAS1.98
217Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.98
218Congenital myopathy 4a, autosomal dominantEnrichmentMYL21.96
219Cleft palate, isolatedEnrichmentGNB11.90
220Cardiomyopathy, dilated, 1eEnrichmentMYL21.90
221Colorectal cancerEnrichmentAKT1, BRAF, NRAS, PIK3R11.88
222Patent foramen ovaleEnrichmentGATA4, GATA61.82
223Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, GNB11.80
224Fibromatosis, gingival, 1EnrichmentSOS11.80
225Costello syndromeEnrichmentHRAS1.80
226Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.80
227Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.80
228Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A1.80
229Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.80
230Lethal congenital contracture syndrome 8EnrichmentADCY61.80
231Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.80
232Night blindness, congenital stationary, type 1hEnrichmentGNB31.80
233Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.80
234Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.80
235Noonan syndrome 12EnrichmentRRAS21.80
236Usher syndrome, type ivEnrichmentPRKAR1A1.80
237Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.80
238AcrodysostosisEnrichmentPRKAR1A1.80
239Body mass index quantitative trait locus 19EnrichmentADCY31.80
240Fibrolamellar carcinomaEnrichmentPRKACA1.80
241Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.80
242HypopituitarismEnrichmentGNAI21.80
243BradyopsiaEnrichmentRGS91.80
244Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.80
245Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.80
246Tafro syndromeEnrichmentMAP2K21.80
247Wooly hair nevusEnrichmentHRAS1.80
248StrabismusEnrichmentGNB11.70
249Myeloma, multipleEnrichmentBRAF, KRAS, PIK3R21.68
250Spinocerebellar ataxia 29EnrichmentITPR11.68
251Glycogen storage disease 0, liverEnrichmentGYS21.68
252Immunodeficiency 33EnrichmentIKBKG1.68
253Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.68
254Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.68
255Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.68
256Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD31.68
257Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.68
258Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.68
259Long qt syndrome 14EnrichmentCALM11.68
260Agammaglobulinemia, x-linkedEnrichmentBTK1.68
261Spinocerebellar ataxia 46EnrichmentPLD31.68
262Glycogen storage disease 0, muscleEnrichmentGYS11.68
263Senior-loken syndrome 7EnrichmentAKT31.68
264Ocular melanomaEnrichmentPLCB41.68
265Bardet-biedl syndrome 16EnrichmentAKT31.68
266Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.68
267Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS21.68
268Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.68
269Charcot-marie-tooth disease type 4fEnrichmentPLD31.68
270Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.68
271Common variable immunodeficiency 12EnrichmentNFKB11.68
272Myeloproliferative syndrome, transientEnrichmentGATA11.68
273Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.68
274Pseudohypoparathyroidism, type iaEnrichmentGNAS1.68
275Cutis marmorata telangiectatica congenitaEnrichmentGNA111.68
276Porphyria, congenital erythropoieticEnrichmentGATA11.68
277Spinocerebellar ataxia 17EnrichmentTBP1.68
278PseudopseudohypoparathyroidismEnrichmentGNAS1.68
279Angioma, tuftedEnrichmentGNA141.68
280Spermatogenic failure 17EnrichmentPLCZ11.68
281Neutropenia, severe congenital, 8, autosomal dominantEnrichmentGATA61.68
282Acute basophilic leukemiaEnrichmentGATA11.68
283Autosomal dominant hypocalcemiaEnrichmentGNA111.68
284PseudohypoparathyroidismEnrichmentGNAS1.68
28546,xy sex reversal 3EnrichmentGATA41.68
286B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.68
287Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.68
288Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.68
289Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.68
290Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.68
291Phakomatosis cesioflammeaEnrichmentGNA111.68
292Ovarian cancerEnrichmentAKT1, EGFR, KRAS, RRAS21.66
293Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.63
294Ataxia-telangiectasiaEnrichmentBRAF1.63
295Nuchal bleb, familialEnrichmentSOS11.63
296Tethered spinal cord syndromeEnrichmentBRAF1.63
297Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT31.63
298Hyper ige syndromeEnrichmentSTAT31.63
299SpermatocytomaEnrichmentHRAS1.63
300Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.63
301Familial hypertrophic cardiomyopathyEnrichmentMYL21.62
302Congenital stationary night blindnessEnrichmentGNAT1, GNB31.62
303Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.61
304Lung cancerEnrichmentBRAF, KRAS1.58
305Gillespie syndromeEnrichmentITPR11.51
306Succinic semialdehyde dehydrogenase deficiencyEnrichmentGPLD11.51
307Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.51
308Nasopharyngeal carcinomaEnrichmentNFKBIA1.51
309Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.51
310Agammaglobulinemia 1EnrichmentBTK1.51
311Immunodeficiency 14EnrichmentPIK3R11.51
312Chorea, benign hereditaryEnrichmentADCY51.51
313Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.51
314Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.51
315Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.51
316Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.51
317Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.51
318Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.51
319Carney complex variantEnrichmentPRKAR1A1.51
320Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.51
321Lung sarcomatoid carcinomaEnrichmentKRAS1.51
322CraniopharyngiomaEnrichmentBRAF1.51
323Pilocytic astrocytomaEnrichmentKRAS1.51
324Newborn respiratory distress syndromeEnrichmentBRAF1.51
325Epidermolytic nevusEnrichmentHRAS1.51
326Gingival fibromatosisEnrichmentSOS11.51
327Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.51
328Familial sick sinus syndromeEnrichmentGNB21.51
329Hypertrophic cardiomyopathyEnrichmentMYL21.50
330Mccune-albright syndromeEnrichmentGNAS1.50
331Heart defects, congenital, and other congenital anomaliesEnrichmentGATA61.50
332Nephrotic syndrome, type 3EnrichmentPLCE11.50
333Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.50
334Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.50
335End stage renal diseaseEnrichmentGATA31.50
336Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.50
337Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.50
338Diffuse cutaneous systemic sclerosisEnrichmentCAV11.41
339Spinocerebellar ataxia 15EnrichmentITPR11.38
340Developmental and epileptic encephalopathy 12EnrichmentPLCB11.38
341Hereditary ataxiaEnrichmentPRKCG1.38
342Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYLK1.38
343Down syndromeEnrichmentGATA11.38
344Pseudohypoparathyroidism, type ibEnrichmentGNAS1.38
345Transposition of the great arteriesEnrichmentGATA41.38
346Middle aortic syndromeEnrichmentGATA61.38
347Long qt syndromeEnrichmentCALM1, CALM21.38
348Breast cancerEnrichmentAKT1, GNG3, KRAS1.36
349Wilms tumor 5EnrichmentBRAF1.33
350Adrenocortical carcinomaEnrichmentPRKAR1A1.33
351Limited sclerodermaEnrichmentCAV11.33
352Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.29
353HemimegalencephalyEnrichmentAKT31.29
354Capillary malformations, congenitalEnrichmentGNA111.29
355Visceral myopathy 1EnrichmentMYLK1.29
356Night blindness, congenital stationary, type 1cEnrichmentGNAT11.29
357Ventricular septal defect 1EnrichmentGATA41.29
358Acute megakaryocytic leukemiaEnrichmentGATA11.29
359Persistent truncus arteriosusEnrichmentGATA61.29
360MyelofibrosisEnrichmentSRC1.27
361Dilated cardiomyopathyEnrichmentMYL21.24
362Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.21
363Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.21
364Lymphoma, non-hodgkin, familialEnrichmentBRAF1.21
365Permanent neonatal diabetes mellitusEnrichmentSTAT31.21
366Cowden syndrome 1EnrichmentEGFR1.21
367Conotruncal heart malformationsEnrichmentGATA61.21
368Charcot-marie-tooth diseaseEnrichmentARHGEF10, PLD31.16
369Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.16
370Primary hyperaldosteronismEnrichmentBRAF1.16
371Ventricular septal defectEnrichmentBRAF1.16
372MegacolonEnrichmentAKT31.15
373Common variable immunodeficiencyEnrichmentNFKB11.15
374Overgrowth syndromeEnrichmentPIK3R11.15
375Squamous cell carcinoma, head and neckEnrichmentEGFR1.15
376BrachydactylyEnrichmentGNAS1.15
377Type 2 diabetes mellitusEnrichmentAKT2, SLC2A41.14
378MelanomaEnrichmentBRAF1.12
379Hereditary breast carcinomaEnrichmentAKT1, KRAS1.11
380Autism spectrum disorderEnrichmentGNB11.11
381West syndromeEnrichmentGNAO1, PLCB11.11
382Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.09
383Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.09
384Choreatic diseaseEnrichmentGNAO11.09
385Heritable pulmonary arterial hypertensionEnrichmentCAV11.08
386Specific learning disabilityEnrichmentMAPK11.08
387MicrocephalyEnrichmentGNB11.06
388Inflammatory bowel disease 1EnrichmentPRKCQ1.04
389Coronary heart disease 5EnrichmentIKBKG1.04
390Developmental and epileptic encephalopathy 14EnrichmentPLCB11.04
391Cowden syndromeEnrichmentAKT11.04
392ThrombocytopeniaEnrichmentGATA1, SRC1.04
393Nephrotic syndrome, type 1EnrichmentPLCE11.04
394Adult hepatocellular carcinomaEnrichmentEGF1.04
395Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK1.04
396Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS1.01
397Aortic valve disease 1EnrichmentSOS11.01
398Ciliary dyskinesia, primary, 3EnrichmentNFKB11.00
399PolymicrogyriaEnrichmentAKT31.00
400Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.00
401AchromatopsiaEnrichmentGNAT21.00
402Congenital nervous system abnormalityEnrichmentCAMK2B, GNAO1, GNB50.99
403Nervous system diseaseEnrichmentCAMK2B, GNAO1, GNB50.99
404OsteoporosisEnrichmentSRC0.98
40546,xy partial gonadal dysgenesisEnrichmentSOS10.98
406Movement diseaseEnrichmentGNAO10.96
407Wilms tumor 1EnrichmentBRAF0.95
408Lynch syndromeEnrichmentKRAS0.95
409MeningiomaEnrichmentAKT10.93
410Congenital long qt syndromeEnrichmentITPR30.93
411RhabdomyosarcomaEnrichmentHRAS0.92
412Melanoma, cutaneous malignant 1EnrichmentBRAF0.90
413Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.89
414Diaphragmatic hernia, congenitalEnrichmentGATA60.89
415Heart, malformation ofEnrichmentMAPK10.88
416Multiple sclerosisEnrichmentITPR10.86
417Cone-rod dystrophy 6EnrichmentGNAT20.86
418Anterior segment dysgenesisEnrichmentITPR10.84
419Rare genetic intellectual disabilityEnrichmentGNAO10.83
420GliosarcomaEnrichmentNFKBIA0.81
421Attention deficit-hyperactivity disorderEnrichmentGNB50.80
422Sudden infant death syndromeEnrichmentCALM20.79
423Giant cell glioblastomaEnrichmentNFKBIA0.79
424Charcot-marie-tooth disease type 4EnrichmentPLD30.76
425Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.76
426Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.76
427Pancreatic cancerEnrichmentKRAS0.75
428Parkinson's diseaseEnrichmentTBP0.74
429Hydrops fetalis, nonimmuneEnrichmentHRAS0.73
430Focal segmental glomerulosclerosisEnrichmentPLCE10.72
431Cardiomyopathy, dilated, 1aEnrichmentNFATC20.70
432MalariaEnrichmentIKBKG0.67
433Diamond-blackfan anemia 1EnrichmentGATA10.66
434Parkinson disease, late-onsetEnrichmentTBP0.65
435Cone dystrophyEnrichmentGNAT20.65
436Jeune thoracic dystrophyEnrichmentGRK20.64
437Developmental and epileptic encephalopathy 1EnrichmentGNAO10.63
438Left ventricular noncompactionEnrichmentRAF10.62
439Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF60.60
440Developmental and epileptic encephalopathyEnrichmentARHGEF150.60
441Asphyxiating thoracic dystrophyEnrichmentGRK20.59
442Gastric cancerEnrichmentKRAS0.54
443Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK20.53
444Severe combined immunodeficiencyEnrichmentIKBKB0.53
445CakutEnrichmentGATA30.52
446Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.52
447Eye diseaseEnrichmentGNAT20.51
448Diamond-blackfan anemiaEnrichmentGATA10.50
449Familial isolated dilated cardiomyopathyEnrichmentRAF10.46
450Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.45
451Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.45
452Centralopathic epilepsyEnrichmentPLCB10.44
453Nephrotic syndromeEnrichmentPLCE10.44
454Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYLK0.43
455Spastic ataxiaEnrichmentITPR10.37
456Undetermined early-onset epileptic encephalopathyEnrichmentPPP3CA0.35
457Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGATA40.35
458Primary ciliary dyskinesiaEnrichmentPRKAR1B0.34
459Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.30
460Leber plus diseaseEnrichmentRGS90.28
461AutismEnrichmentCAMK2G0.27
462Complex neurodevelopmental disorderEnrichmentGNB20.20
463Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.19
464Hereditary retinal dystrophyEnrichmentGNAT1, GNAT20.09
465Fundus dystrophyEnrichmentGNAT1, GNAT20.09
466Retinitis pigmentosaEnrichmentGNAT10.05

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