Beta-Adrenergic Signaling

Pathway network for the Beta-Adrenergic Signaling SuperPath

Sources:
  • QIAGEN
  • Tocris

Pathways in the Beta-Adrenergic Signaling SuperPath

#NameSourceGenes
1Beta-Adrenergic SignalingQIAGEN
2CDK5 PathwayQIAGEN
3Insulin Receptor PathwayQIAGEN
4Erythropoietin PathwayQIAGEN
5Insulin PathwayTocris

Gene overlap in member pathways for Beta-Adrenergic Signaling SuperPath

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

Disorders associated with Beta-Adrenergic 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, SOS110.88
3Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.76
4Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS, PIK3CA10.64
5Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K28.99
6Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K28.99
7Leukoencephalopathy with vanishing white matter 1EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B58.96
8Leukoencephalopathy with vanishing white matter 5EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B58.54
9Leukoencephalopathy with vanishing white matterEnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B58.19
10Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA7.46
11Junctional epidermolysis bullosaEnrichmentITGA6, ITGB4, LAMA3, LAMB3, LAMC27.30
12Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS17.18
13Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF17.16
14Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS6.74
15Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB4, LAMA3, LAMB3, LAMC26.34
16Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB4, LAMA3, LAMB3, LAMC26.34
17Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.14
18Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.14
19HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA5.74
20Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, RRAS5.55
21Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA5.44
22Differentiated thyroid carcinomaEnrichmentBRAF, EIF1AX, HRAS, KRAS, NRAS5.28
23Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS5.20
24Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA5.20
25Gallbladder cancerEnrichmentBRAF, KRAS, PIK3CA5.20
26Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF15.20
27Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS5.20
28Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, NRAS5.03
29Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA4.82
30Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA4.67
31Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.49
32Type 2 diabetes mellitusEnrichmentINSR, IRS1, IRS2, PPP1R3A, SLC2A44.47
33Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA4.41
34Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC24.34
35Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB34.34
36Pulmonic stenosisEnrichmentBRAF, SOS14.23
37Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A4.23
38Leukemia, chronic myeloidEnrichmentABL1, KRAS, NRAS4.10
39Cardiac conduction defectEnrichmentCACNA1C, PLN, RYR24.03
40Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.01
41Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.01
42Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.01
43Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.01
44Colorectal cancerEnrichmentAKT1, BRAF, NRAS, PIK3CA, PIK3R13.85
45Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB4, PSMB93.75
46Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.71
47Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.71
48Erythrocytosis, familial, 1EnrichmentEPOR, JAK23.58
49Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C, RYR23.45
50Malignant hyperthermiaEnrichmentCACNA1S, RYR13.45
51Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, YWHAZ3.33
52Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA3.32
53Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB33.27
54Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB83.27
55Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB83.27
56Anastomosing haemangiomaEnrichmentGNA11, GNA143.27
57Heart conduction diseaseEnrichmentCACNA1C, RYR23.23
58Bladder cancerEnrichmentHRAS, KRAS, PIK3CA3.22
59Overgrowth syndromeEnrichmentMTOR, PIK3R13.17
60Multiple sclerosisEnrichmentITGB4, LAMA5, LAMB13.11
61Lung cancerEnrichmentBRAF, KRAS, PIK3CA3.09
62Breast cancerEnrichmentAKT1, JUN, KRAS, PIK3CA3.04
63MyelofibrosisEnrichmentJAK2, SRC3.04
64Achromatopsia 4EnrichmentGNAI3, GNAT22.98
65Ventricular septal defectEnrichmentBRAF, RPS6KA32.94
66Cowden syndromeEnrichmentAKT1, PIK3CA2.94
67Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.85
68Myeloma, multipleEnrichmentBRAF, EIF1AX, KRAS, PIK3R22.81
69Long qt syndromeEnrichmentCACNA1C, CACNA1S, RYR22.76
70Specific learning disabilityEnrichmentRPS6KA3, YWHAG2.76
71Epidermolysis bullosaEnrichmentITGA6, LAMB32.76
72Hereditary breast carcinomaEnrichmentAKT1, KRAS, PIK3CA2.69
73Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.69
74Primary hyperaldosteronismEnrichmentBRAF, GNAS2.69
75Hydrops fetalisEnrichmentRYR1, RYR32.69
76MeningiomaEnrichmentAKT1, PIK3CA2.68
77Leukemia, acute myeloidEnrichmentJAK2, KRAS, NRAS2.62
78Nk-cell enteropathyEnrichmentIGF1R, PIK3CB2.61
79Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB42.59
80Adrenocortical carcinomaEnrichmentCTNNB1, PRKAR1A2.59
81Lung cancer susceptibility 3EnrichmentBRAF, KRAS2.55
82Attention deficit-hyperactivity disorderEnrichmentDRD4, DRD5, GNB52.52
83Skin diseaseEnrichmentITGB4, LAMB3, LAMC22.52
84Lynch syndromeEnrichmentKRAS, PIK3CA2.49
85Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB32.44
86Dandy-walker syndromeEnrichmentBRAF, PPP1CB2.38
87Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentPLN, RYR22.29
88Arteriovenous malformations of the brainEnrichmentBRAF, KRAS2.28
89MacrodactylyEnrichmentPIK3CA2.24
90Proteus syndromeEnrichmentAKT12.24
91Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.24
92Donohue syndromeEnrichmentINSR2.24
93Coffin-lowry syndromeEnrichmentRPS6KA32.24
94Oculoectodermal syndromeEnrichmentKRAS2.24
95Pallister-killian syndromeEnrichmentARAF2.24
96Incontinentia pigmentiEnrichmentIKBKG2.24
97Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.24
98Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.24
99Noonan syndrome 5EnrichmentRAF12.24
100Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.24
101Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.24
102Melorheostosis, isolatedEnrichmentMAP2K12.24
103Megalencephaly, autosomal dominantEnrichmentPIK3CA2.24
104Noonan syndrome 7EnrichmentBRAF2.24
105Leopard syndrome 3EnrichmentBRAF2.24
106Cardiomyopathy, dilated, 1nnEnrichmentRAF12.24
107Cowden syndrome 5EnrichmentPIK3CA2.24
108Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.24
109Melanosis, neurocutaneousEnrichmentNRAS2.24
110Noonan syndrome 6EnrichmentNRAS2.24
111Fetal encasement syndromeEnrichmentCHUK2.24
112Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.24
113Cerebral cavernous malformations 4EnrichmentPIK3CA2.24
114Immunodeficiency 15bEnrichmentIKBKB2.24
115Immunodeficiency 15aEnrichmentIKBKB2.24
116Short syndromeEnrichmentPIK3R12.24
117Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.24
118Oculoskeletodental syndromeEnrichmentPIK3C2A2.24
119Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.24
120Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.24
121Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.24
122LymphangiomaEnrichmentBRAF2.24
123Hemifacial myohyperplasiaEnrichmentPIK3CA2.24
124Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.24
125Phace associationEnrichmentBRAF2.24
126Spinocerebellar ataxia 14EnrichmentPRKCG2.24
127MelorheostosisEnrichmentMAP2K12.24
128Leopard syndrome 2EnrichmentRAF12.24
129Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.24
130Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.24
131Cowden syndrome 6EnrichmentAKT12.24
132Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.24
133Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.24
134Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.24
135Developmental and epileptic encephalopathy 56EnrichmentYWHAG2.24
136Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.24
137Bartsocas-papas syndrome 2EnrichmentCHUK2.24
138TrigonitisEnrichmentRAF12.24
139Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.24
140Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.24
141HypospadiasEnrichmentPIK3CA2.24
142Capillary hemangiomaEnrichmentAKT32.24
143Congenital pulmonary airway malformationEnrichmentKRAS2.24
144Rare venous malformationEnrichmentPIK3CA2.24
145Diaphragmatic eventrationEnrichmentPIK3CA2.24
146Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.24
147Syringocystadenoma papilliferumEnrichmentBRAF2.24
148Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.24
149Rare combined vascular malformationEnrichmentPIK3CA2.24
150GangliogliomaEnrichmentBRAF2.24
151Cavernous lymphangiomaEnrichmentPIK3CA2.24
152Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.24
153Nongerminomatous germ cell tumorEnrichmentBRAF2.24
154Phace syndromeEnrichmentBRAF2.24
155Oculocerebrodental syndromeEnrichmentPIK3C2A2.24
156Phakomatosis pigmentokeratoticaEnrichmentHRAS2.24
157Classic hairy cell leukemiaEnrichmentBRAF2.24
158Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.24
159Eccrine angiomatous hamartomaEnrichmentPIK3CA2.24
160Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE2.24
161Macrodactyly of toeEnrichmentPIK3CA2.24
162Neurocutaneous melanocytosisEnrichmentNRAS2.24
163Akt2-related familial partial lipodystrophyEnrichmentAKT22.24
164MicrocephalyEnrichmentABL1, CTNNB1, GNAO1, GNB1, MAPK1, PSMC32.20
165Arrhythmogenic right ventricular cardiomyopathyEnrichmentRYR1, RYR22.18
166Noonan syndrome 4EnrichmentSOS12.17
167Spinocerebellar ataxia 12EnrichmentPPP2R2B2.17
168Noonan syndrome 9EnrichmentSOS22.17
169Microvascular complications of diabetes 2EnrichmentEPO2.17
170Noonan syndrome 11EnrichmentMRAS2.17
171Noonan syndrome 13EnrichmentMAPK12.17
172Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B2.17
173Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA2.17
174Houge-janssens syndrome 4EnrichmentPPP2R5C2.17
175Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.17
176Houge-janssens syndrome 2EnrichmentPPP2R1A2.17
177Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.17
178Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.17
179Erythrocytosis, familial, 5EnrichmentEPO2.17
180Thrombocytopenia 6EnrichmentSRC2.17
181Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.17
182Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.17
183Vegetative pyoderma gangrenosumEnrichmentPTPN62.17
184Bullous pyoderma gangrenosumEnrichmentPTPN62.17
185Pustular pyoderma gangrenosumEnrichmentPTPN62.17
186Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.17
187Classic pyoderma gangrenosumEnrichmentPTPN62.17
188Hepatocellular carcinomaEnrichmentIGF2R, PIK3CA2.15
189Amelogenesis imperfecta, type ieEnrichmentITGB6, LAMB32.12
190Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB32.12
191Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.11
192Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.11
193Pseudohypoparathyroidism, type icEnrichmentGNAS2.11
194Carney complex, type 1EnrichmentPRKAR1A2.11
195Resting heart rate, variation inEnrichmentADRB12.11
196Osseous heteroplasia, progressiveEnrichmentGNAS2.11
197Deafness, autosomal recessive 44EnrichmentADCY12.11
198Ventricular tachycardia, familialEnrichmentGNAI22.11
199Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.11
200Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.11
201Congenital myopathy 20EnrichmentRYR32.11
202Pituitary adenoma 3, multiple typesEnrichmentGNAS2.11
203Congenital myopathy 18EnrichmentCACNA1S2.11
204Cardioacrofacial dysplasia 2EnrichmentPRKACB2.11
205Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.11
206Myxoma, intracardiacEnrichmentPRKAR1A2.11
207Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.11
208Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.11
209Brugada syndrome 3EnrichmentCACNA1C2.11
210Malignant hyperthermia 5EnrichmentCACNA1S2.11
211Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.11
212Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.11
213Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.11
214Disorders of gnas inactivationEnrichmentGNAS2.11
215Cardioacrofacial dysplasia 1EnrichmentPRKACA2.11
216Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.11
217Sick sinus syndrome 4EnrichmentGNB22.11
218Short sleep, familial natural, 2EnrichmentADRB12.11
219Congenital myopathy with myasthenic-like onsetEnrichmentRYR12.11
220Rhabdomyolysis 2EnrichmentATP2A22.11
221Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.11
222Atypical timothy syndromeEnrichmentCACNA1C2.11
223Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.11
224Monostotic fibrous dysplasiaEnrichmentGNAS2.11
225Timothy syndrome type 2EnrichmentCACNA1C2.11
226Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.11
227Mazabraud syndromeEnrichmentGNAS2.11
228Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyEnrichmentRYR12.11
229Timothy syndrome type 1EnrichmentCACNA1C2.11
230Cacna1c-related disordersEnrichmentCACNA1C2.11
231Benign samaritan congenital myopathyEnrichmentRYR12.11
232RhabdomyosarcomaEnrichmentCBL, HRAS2.06
233Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.05
234Parkinson disease 18, autosomal dominantEnrichmentEIF4G12.05
235Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.05
236Leukoencephalopathy with vanishing white matter 3EnrichmentEIF2B32.05
237Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC32.05
238Autism 19EnrichmentEIF4E2.05
239Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.05
240Spinocerebellar ataxia 26EnrichmentEEF22.05
241Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A22.05
242Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.05
243Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.05
244Leukoencephalopathy with vanishing white matter 2EnrichmentEIF2B22.05
245Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.05
246Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.05
247Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.05
248Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB102.05
249Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.05
250Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.05
251Congenital myopathyEnrichmentCACNA1S, RYR12.03
252Centronuclear myopathyEnrichmentCACNA1S, RYR11.95
253Scoliosis, isolated 1EnrichmentMAPK71.94
254Costello syndromeEnrichmentHRAS1.94
255Immunodeficiency 33EnrichmentIKBKG1.94
256Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.94
257Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.94
258Keratosis, seborrheicEnrichmentPIK3CA1.94
259Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.94
260Roifman-chitayat syndromeEnrichmentPIK3CD1.94
261Noonan syndrome 8EnrichmentPIK3CA1.94
262Spermatogenic failure 17EnrichmentPIK3C2G1.94
263Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.94
264Cebalid syndromeEnrichmentMTOR1.94
265Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.94
266Senior-loken syndrome 7EnrichmentAKT31.94
267Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.94
268Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG1.94
269Immune system diseaseEnrichmentPIK3CD1.94
270Bardet-biedl syndrome 16EnrichmentAKT31.94
271Smith-kingsmore syndromeEnrichmentMTOR1.94
272Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.94
273Houge-janssens syndrome 3EnrichmentPPP2CA1.94
274Tafro syndromeEnrichmentMAP2K21.94
275Wooly hair nevusEnrichmentHRAS1.94
276Fibromatosis, gingival, 1EnrichmentSOS11.87
277Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.87
278Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.87
279Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.87
280Thrombocythemia 3EnrichmentJAK21.87
281Diamond-blackfan anemia-likeEnrichmentEPO1.87
282Noonan syndrome 12EnrichmentRRAS21.87
283Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.87
284PolycythemiaEnrichmentJAK21.87
285Hypereosinophilic syndromeEnrichmentJAK21.87
286Common variable immunodeficiency 12EnrichmentNFKB11.87
287Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.87
288Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.87
289Systemic lupus erythematosus 6EnrichmentITGAM1.87
290Blepharospasm, benign essentialEnrichmentDRD51.87
291Cardiomyopathy, dilated, 1jjEnrichmentLAMA41.87
292Tremor, hereditary essential, 1EnrichmentDRD31.87
293Lissencephaly 5EnrichmentLAMB11.87
294Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.87
295Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK51.87
296Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.87
297Nephrotic syndrome, type 26EnrichmentLAMA51.87
298Developmental and epileptic encephalopathy 58EnrichmentNTRK21.87
299Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.87
300Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.87
301Parkinson-dementia syndromeEnrichmentMAPT1.87
302Supranuclear palsy, progressive, 1EnrichmentMAPT1.87
303Developmental and epileptic encephalopathy 17EnrichmentGNAO11.87
304Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.87
305Progressive supranuclear palsyEnrichmentMAPT1.87
306Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.87
307Cortical malformations, occipitalEnrichmentLAMC31.87
308Dystonia 25EnrichmentGNAL1.87
309Night blindness, congenital stationary, type 1gEnrichmentGNAT11.87
310Hypocalcemia, autosomal dominant 2EnrichmentGNA111.87
311Proteasome-associated autoinflammatory syndrome 6EnrichmentPSMB91.87
312Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.87
313Classic progressive supranuclear palsy syndromeEnrichmentMAPT1.87
314Bent bone dysplasia syndrome 2EnrichmentLAMA51.87
315Adenoid ameloblastomaEnrichmentCTNNB11.87
316Amelogenesis imperfecta, type ihEnrichmentITGB61.87
317Occipital pachygyria and polymicrogyriaEnrichmentLAMC31.87
318Atypical progressive supranuclear palsy syndromeEnrichmentMAPT1.87
319Autonomic nervous system diseaseEnrichmentDRD41.87
320Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.87
321Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.87
322Sporadic hemiplegic migraineEnrichmentCACNA1A1.87
323Gnao1-related disorderEnrichmentGNAO11.87
324Phakomatosis cesiomarmorataEnrichmentGNA111.87
325Kaposiform hemangioendotheliomaEnrichmentGNA141.87
326Lama5-related multisystemic syndromeEnrichmentLAMA51.87
327Microcystic stromal tumorEnrichmentCTNNB11.87
328Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA21.87
329Benign paroxysmal torticollis of infancyEnrichmentCACNA1A1.87
330BlepharospasmEnrichmentDRD51.87
331Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.87
332Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C, RAF11.83
333Malignant hyperthermia 1EnrichmentRYR11.81
334Acrokeratosis verruciformisEnrichmentATP2A21.81
335Pseudohypoparathyroidism, type iaEnrichmentGNAS1.81
336Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndromeEnrichmentRYR21.81
337Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.81
338Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.81
339Brody diseaseEnrichmentATP2A11.81
340Timothy syndromeEnrichmentCACNA1C1.81
341PseudopseudohypoparathyroidismEnrichmentGNAS1.81
342Cardiomyopathy, dilated, 1pEnrichmentPLN1.81
343Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.81
344Night blindness, congenital stationary, type 1hEnrichmentGNB31.81
345Cardiomyopathy, familial hypertrophic, 18EnrichmentPLN1.81
346Houge-janssens syndrome 1EnrichmentPPP2R5D1.81
347Long qt syndrome 8EnrichmentCACNA1C1.81
348Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.81
349Usher syndrome, type ivEnrichmentPRKAR1A1.81
350Ventricular tachycardia, catecholaminergic polymorphic, 2EnrichmentRYR21.81
351King-denborough syndromeEnrichmentRYR11.81
352AcrodysostosisEnrichmentPRKAR1A1.81
353PseudohypoparathyroidismEnrichmentGNAS1.81
354Body mass index quantitative trait locus 19EnrichmentADCY31.81
355Fibrolamellar carcinomaEnrichmentPRKACA1.81
356Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.81
357HypopituitarismEnrichmentGNAI21.81
358Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.81
359Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.81
360Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.81
361Exercise-induced malignant hyperthermiaEnrichmentRYR11.81
362Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.81
363Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.81
364Cerebral visual impairmentEnrichmentGNB11.81
365Ataxia-telangiectasiaEnrichmentBRAF1.77
366Pompe disease, infantile-onsetEnrichmentPIK3CA1.77
367Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.77
368Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.77
369Tethered spinal cord syndromeEnrichmentBRAF1.77
370SpermatocytomaEnrichmentHRAS1.77
371Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.77
372KeratoacanthomaEnrichmentPIK3CA1.77
373Ovarian germ cell cancerEnrichmentCBL1.75
374Maturity-onset diabetes of the young, type 10EnrichmentINS1.75
375HyperproinsulinemiaEnrichmentINS1.75
376Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.75
377Leukoencephalopathy with vanishing white matter 4EnrichmentEIF2B41.75
378Glycogen storage disease 0, muscleEnrichmentGYS11.75
379Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.75
380Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.75
381Malignant germ cell tumor of ovaryEnrichmentCBL1.75
382Nephrotic syndromeEnrichmentITGA3, LAMA5, LAMB21.70
383Prognathism, mandibularEnrichmentCSNK2B1.70
384Polycythemia veraEnrichmentJAK21.70
385Nuchal bleb, familialEnrichmentSOS11.70
386Nasopharyngeal carcinomaEnrichmentNFKBIA1.70
387Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.70
388Primary polycythemiaEnrichmentEPOR1.70
389Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.70
390Ovarian cancerEnrichmentAKT1, KRAS, PIK3CA1.69
391Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.64
392Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.64
393Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.64
394Focal cortical dysplasia, type iiEnrichmentMTOR1.64
395Lung sarcomatoid carcinomaEnrichmentKRAS1.64
396Hereditary ataxiaEnrichmentPRKCG1.64
397Cerebrovascular diseaseEnrichmentPIK3CA1.64
398CraniopharyngiomaEnrichmentBRAF1.64
399Pilocytic astrocytomaEnrichmentKRAS1.64
400Newborn respiratory distress syndromeEnrichmentBRAF1.64
401Epidermolytic nevusEnrichmentHRAS1.64
402Familial cerebral cavernous malformationsEnrichmentPIK3CA1.64
403Isolated focal cortical dysplasia type iiEnrichmentMTOR1.64
404Darier-white diseaseEnrichmentATP2A21.64
405Mccune-albright syndromeEnrichmentGNAS1.64
406Lynch syndrome 5EnrichmentRYR11.64
407Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1C1.64
408Bronchopulmonary dysplasiaEnrichmentRYR11.64
409Intrinsic cardiomyopathyEnrichmentPLN1.64
410Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.64
411Thyrotoxic periodic paralysisEnrichmentCACNA1S1.64
412Dilated cardiomyopathyEnrichmentBRAF, PLN, RAF11.62
413Gastric cancerEnrichmentKRAS, PIK3CA1.60
414Type 1 diabetes mellitus 2EnrichmentINS1.58
415Heparin cofactor ii deficiencyEnrichmentEIF4G31.58
416Budd-chiari syndromeEnrichmentJAK21.58
417Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.58
418Congenital generalized lipodystrophyEnrichmentFOS1.58
419EnophthalmosEnrichmentCSNK2B1.58
420SyndactylyEnrichmentCSNK2B1.58
421Gingival fibromatosisEnrichmentSOS11.58
422Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.58
423Amelogenesis imperfecta, type iaEnrichmentLAMB31.57
424Leukocyte adhesion deficiency, type iEnrichmentITGB21.57
425Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA31.57
426Cutis marmorata telangiectatica congenitaEnrichmentGNA111.57
427Myasthenic syndrome, congenital, 5EnrichmentLAMB21.57
428Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.57
429Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.57
430Pick disease of brainEnrichmentMAPT1.57
431Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.57
432Lissencephaly 1EnrichmentLAMB11.57
433Angioma, tuftedEnrichmentGNA141.57
434Pierson syndromeEnrichmentLAMB21.57
435Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN11.57
436Proteasome-associated autoinflammatory syndrome 5EnrichmentPSMB101.57
437Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC21.57
438Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC21.57
439Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.57
440Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA31.57
441Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.57
442Immunodeficiency 121 with autoinflammationEnrichmentPSMB101.57
443Birk-aharoni syndromeEnrichmentPSMC11.57
444Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB21.57
445Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.57
446Childhood hepatocellular carcinomaEnrichmentCTNNB11.57
447Autosomal dominant hypocalcemiaEnrichmentGNA111.57
448Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA31.57
449Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.57
450Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.57
451TeratomaEnrichmentCTNNB11.57
452Progressive bulbar palsyEnrichmentCACNA1A1.57
453Submucosal cleft palateEnrichmentUBB1.57
454Phakomatosis cesioflammeaEnrichmentGNA111.57
455Cleft hard palateEnrichmentUBB1.57
456Capillary malformations, congenitalEnrichmentPIK3CA1.55
457Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.55
458Insulin-like growth factor iEnrichmentIGF1R1.55
459Endometrial stromal sarcomaEnrichmentYWHAE1.55
460Body mass index quantitative trait locus 11EnrichmentADCY3, BDNF, GNAS1.53
461Left ventricular noncompactionEnrichmentRAF1, RYR21.52
462Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentRYR11.51
463Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.51
464Myopathy, centronuclear, 2EnrichmentRYR11.51
465Sacral defect with anterior meningoceleEnrichmentRYR11.51
466Pseudohypoparathyroidism, type ibEnrichmentGNAS1.51
467Amyotrophy, monomelicEnrichmentRYR31.51
468Auriculocondylar syndrome 1EnrichmentGNAI31.51
469Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.51
470Carney complex variantEnrichmentPRKAR1A1.51
471Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.51
472Intellectual developmental disorder, autosomal dominant 26EnrichmentRYR11.51
473Congenital myopathy 1aEnrichmentRYR11.51
474Paroxysmal familial ventricular fibrillationEnrichmentRYR21.51
475Familial sick sinus syndromeEnrichmentGNB21.51
476Myeloproliferative neoplasmEnrichmentJAK21.48
477Histiocytoid hemangiomaEnrichmentFOS1.48
478Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.47
479Cowden syndrome 1EnrichmentPIK3CA1.47
480Hemihyperplasia, isolatedEnrichmentPIK3CA1.47
481Wilms tumor 5EnrichmentBRAF1.47
48246,xy disorder of sex developmentEnrichmentINSR1.47
483Kidney clear cell sarcomaEnrichmentYWHAE1.47
484Myocardial infarctionEnrichmentITGB3, PSMA61.46
485Neonatal diabetes mellitusEnrichmentINS1.45
486HypertelorismEnrichmentPIK3CA, RPS6KA31.44
487Cerebral palsyEnrichmentCACNA1C, GNB11.44
488Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, MAP2K11.43
489Congenital stationary night blindnessEnrichmentGNAT1, GNB31.42
490Congenital myopathy 1b, autosomal recessiveEnrichmentRYR11.42
491Cardiac arrestEnrichmentPLN1.42
492Renal cell carcinoma, papillary, 1EnrichmentMTOR1.40
493MegacolonEnrichmentAKT31.40
494Autosomal dominant secondary polycythemiaEnrichmentEPO1.40
495Desmoid disease, hereditaryEnrichmentCTNNB11.40
496Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.40
497Uvula, bifidEnrichmentUBB1.40
498Cleft soft palateEnrichmentUBB1.40
499Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA21.40
500Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.40
501Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.40
502Anus, imperforateEnrichmentCTNNB11.40
503Exudative vitreoretinopathy 7EnrichmentCTNNB11.40
504Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.40
505Desmoid tumorEnrichmentCTNNB11.40
506Poretti-boltshauser syndromeEnrichmentLAMA11.40
507T-cell acute lymphoblastic leukemiaEnrichmentABL11.40
508Bleeding disorder, platelet-type, 24EnrichmentITGB31.40
509Alopecia - intellectual disability syndromeEnrichmentITGB61.40
510Thyroid hemiagenesisEnrichmentPSMD31.40
511Hereditary episodic ataxiaEnrichmentCACNA1A1.40
512Lama2-related muscular dystrophyEnrichmentLAMA21.40
513Aggressive systemic mastocytosisEnrichmentCBL1.36
514Gastroesophageal refluxEnrichmentRPS6KA31.35
515Lymphoma, non-hodgkin, familialEnrichmentBRAF1.35
516Orthostatic intoleranceEnrichmentRPS6KA31.35
517Lennox-gastaut syndromeEnrichmentMAPK101.35
518Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.34
519Myopathy, centronuclear, 1EnrichmentRYR11.34
520Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentRYR21.34
521Essential thrombocythemiaEnrichmentJAK21.34
522Common variable immunodeficiencyEnrichmentNFKB11.34
523StrabismusEnrichmentCACNA1A, GNB11.30
524Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.30
525Coronary heart disease 5EnrichmentIKBKG1.30
526Adult hepatocellular carcinomaEnrichmentPIK3CA1.30
527Type 1 diabetes mellitusEnrichmentINS1.28
528Amelogenesis imperfecta, type iiiaEnrichmentITGB61.28
529Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.28
530Spinocerebellar ataxia 6EnrichmentCACNA1A1.28
531Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.28
532Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.28
533PilomatrixomaEnrichmentCTNNB11.28
534Retinitis pigmentosa 26EnrichmentITGA41.28
535Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.28
536Alazami syndromeEnrichmentCTNNB11.28
537Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.28
538Episodic ataxiaEnrichmentCACNA1A1.28
539Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.28
540Pseudomyogenic hemangioendotheliomaEnrichmentFOSB1.28
541BrachydactylyEnrichmentGNAS1.28
542Congenital nervous system abnormalityEnrichmentCACNA1A, CTNNB1, GNAO1, GNB51.27
543Nervous system diseaseEnrichmentCACNA1A, CTNNB1, GNAO1, GNB51.27
544PolymicrogyriaEnrichmentAKT31.25
545MelanomaEnrichmentBRAF1.25
546Leukemia, acute lymphoblastic 3EnrichmentJAK21.23
547Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.22
548Multiple pterygium syndrome, lethal typeEnrichmentRYR11.22
549Congenital muscular dystrophyEnrichmentRYR11.22
550Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentRYR21.22
551Catecholaminergic polymorphic ventricular tachycardiaEnrichmentRYR21.22
552HypothyroidismEnrichmentGNB11.22
553Familial isolated dilated cardiomyopathyEnrichmentPLN, RAF11.20
554Ciliary dyskinesia, primary, 3EnrichmentNFKB11.19
555Episodic ataxia, type 2EnrichmentCACNA1A1.18
556Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.18
557Exudative vitreoretinopathy 1EnrichmentCTNNB11.18
558Night blindness, congenital stationary, type 1cEnrichmentGNAT11.18
559Glanzmann thrombasthenia 2EnrichmentITGB31.18
560Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA21.18
561Aplasia cutis congenitaEnrichmentITGB41.18
562DementiaEnrichmentMAPT1.18
563Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentPLN1.17
564Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.17
565Permanent neonatal diabetes mellitusEnrichmentINS1.16
566Complex neurodevelopmental disorderEnrichmentCACNA1C, GNB2, PPP2CA1.15
567Protein-deficiency anemiaEnrichmentNRAS1.14
568Familial colorectal cancerEnrichmentPLA2G2A1.13
569Inflammatory bowel disease 1EnrichmentPRKCQ1.11
570Developmental dysplasia of the hip 1EnrichmentPSMC31.11
571Melanoma, uvealEnrichmentGNA111.11
572Dystonia 11, myoclonicEnrichmentDRD21.11
573Weyers acrofacial dysostosisEnrichmentCTNNB11.11
574Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.11
575Patent ductus arteriosusEnrichmentPSMC31.11
576DystoniaEnrichmentGNAL, GNB11.10
577Leukemia, acute lymphoblasticEnrichmentGNB11.09
578Myelodysplastic syndromeEnrichmentGNB11.09
579Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.08
580Wilms tumor 1EnrichmentBRAF1.08
581Rare genetic intellectual disabilityEnrichmentMTOR1.08
582Aortic valve disease 1EnrichmentSOS11.08
583Acute promyelocytic leukemiaEnrichmentSTAT5B1.08
584Stroke, ischemicEnrichmentPRKCH1.07
585Hereditary breast ovarian cancer syndromeEnrichmentEIF2B5, KRAS1.06
586Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentRYR21.05
587Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentRYR21.05
588OsteoporosisEnrichmentSRC1.05
58946,xy partial gonadal dysgenesisEnrichmentSOS11.05
590Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF1.04
591Semantic dementiaEnrichmentMAPT1.04
592Epidermolysis bullosa simplexEnrichmentITGB41.04
593Moyamoya angiopathyEnrichmentABL11.04
594B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL11.04
595Melanoma, cutaneous malignant 1EnrichmentBRAF1.03
596Glycogen storage diseaseEnrichmentGYS11.03
597Diabetes mellitusEnrichmentINS1.03
598Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentRYR11.02
599ClubfootEnrichmentRYR11.02
600GliosarcomaEnrichmentNFKBIA0.99
601Renal hypodysplasia/aplasia 1EnrichmentITGA80.99
602Exudative vitreoretinopathyEnrichmentCTNNB10.99
603Alternating hemiplegia of childhoodEnrichmentCACNA1A0.99
604Essential tremorEnrichmentDRD30.99
605Choreatic diseaseEnrichmentGNAO10.99
606Difference of sex developmentEnrichmentCACNA1A0.99
607Diffuse large b-cell lymphomaEnrichmentBRAF0.98
608Giant cell glioblastomaEnrichmentNFKBIA0.97
609Premature menopauseEnrichmentEIF2B20.96
610Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.96
611Congenital myopathy 4a, autosomal dominantEnrichmentRYR10.96
612Endometrial cancerEnrichmentPIK3CA0.94
613Heart, malformation ofEnrichmentMAPK10.94
614Congenital central hypoventilation syndromeEnrichmentBDNF0.94
615Progressive non-fluent aphasiaEnrichmentMAPT0.94
616Behavioral variant of frontotemporal dementiaEnrichmentMAPT0.94
617Renal agenesis, bilateralEnrichmentITGA80.94
618West syndromeEnrichmentGNAO1, NTRK20.93
619Hypertension, essentialEnrichmentGNB30.91
620Cleft palate, isolatedEnrichmentGNB10.91
621Sudden infant death syndromeEnrichmentPLN0.91
622MalariaEnrichmentIKBKG0.91
623Omenn syndromeEnrichmentPSMB100.90
624AchromatopsiaEnrichmentGNAT20.90
625Beckwith-wiedemann syndromeEnrichmentRYR10.88
626Neuromuscular diseaseEnrichmentRYR10.88
627Pancreatic cancerEnrichmentKRAS0.87
628ThrombocytopeniaEnrichmentITGA2B, ITGB30.87
629Migraine with or without aura 1EnrichmentCACNA1A0.86
630Frontotemporal dementia 1EnrichmentMAPT0.86
631Movement diseaseEnrichmentGNAO10.86
632Presynaptic congenital myasthenic syndromesEnrichmentLAMA50.86
633Hydrops fetalis, nonimmuneEnrichmentHRAS0.86
634Prostate cancerEnrichmentPIK3CA0.81
635Neural tube defectsEnrichmentITGB10.79
636Alzheimer's diseaseEnrichmentMAPT0.79
637Amelogenesis imperfectaEnrichmentLAMB30.79
638Maturity-onset diabetes of the youngEnrichmentINS0.78
639ScoliosisEnrichmentRYR10.77
640MedulloblastomaEnrichmentCTNNB10.76
641Cone-rod dystrophy 6EnrichmentGNAT20.76
642Heart diseaseEnrichmentABL10.76
643Isolated macular dystrophyEnrichmentITGA40.76
644Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, NTRK20.76
645Familial hypertrophic cardiomyopathyEnrichmentRAF10.76
646Severe combined immunodeficiencyEnrichmentIKBKB0.76
647Brugada syndromeEnrichmentCACNA1C0.74
648Kidney diseaseEnrichmentLAMB20.74
649Brittle bone disorderEnrichmentEIF2B20.73
650Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.73
651Parkinson disease, late-onsetEnrichmentEIF4G10.71
652Creatine phosphokinase, elevated serumEnrichmentLAMA20.71
653Isolated elevated serum creatine phosphokinase levelsEnrichmentLAMA20.71
654Alzheimer disease, familial, 1EnrichmentMAPT0.69
655Polycystic liver diseaseEnrichmentCTNNB10.69
656Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.69
657Long qt syndrome 1EnrichmentCACNA1C0.68
658Patent foramen ovaleEnrichmentPSMC30.67
659Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.67
660HepatoblastomaEnrichmentCTNNB10.61
661Fetal akinesia deformation sequence 1EnrichmentRYR10.60
662Autosomal dominant non-syndromic intellectual disabilityEnrichmentYWHAZ0.60
663Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL10.57
664MyopathyEnrichmentRYR10.57
665Cone dystrophyEnrichmentGNAT20.56
666Autoinflammatory diseaseEnrichmentPSMB80.56
667Distal arthrogryposisEnrichmentRYR10.55
668Hypertrophic cardiomyopathyEnrichmentPLN0.55
669Developmental and epileptic encephalopathy 1EnrichmentGNAO10.54
670Primary ovarian insufficiencyEnrichmentIGF2R0.54
671Auditory neuropathyEnrichmentCACNA1A0.53
672Severe covid-19EnrichmentITGAV0.49
673Peripheral nervous system diseaseEnrichmentNGF0.45
674NeuropathyEnrichmentNGF0.45
675Genetic steroid-resistant nephrotic syndromeEnrichmentLAMA50.43
676Eye diseaseEnrichmentGNAT20.42
677Developmental and epileptic encephalopathyEnrichmentGNAO10.41
678Systemic lupus erythematosusEnrichmentITGAM0.39
679Charcot-marie-tooth diseaseEnrichmentLAMA20.37
680Primary ciliary dyskinesiaEnrichmentPRKAR1B0.35
681Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.30
682Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMAPT0.26
683Hereditary retinal dystrophyEnrichmentGNAT1, GNAT2, ITGA4, LAMA10.26
684Fundus dystrophyEnrichmentGNAT1, GNAT2, ITGA4, LAMA10.26
685SchizophreniaEnrichmentDRD30.26
686Cone-rod dystrophy 2EnrichmentITGA40.22
687Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.19
688Retinitis pigmentosaEnrichmentGNAT10.02

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