Development Dopamine D2 receptor transactivation of EGFR

Pathway network for the Development Dopamine D2 receptor transactivation of EGFR SuperPath

Sources:
  • GeneGo (Thomson Reuters)
  • Reactome

Pathways in the Development Dopamine D2 receptor transactivation of EGFR SuperPath

#NameSourceGenes
1Development Dopamine D2 receptor transactivation of EGFRGeneGo (Thomson Reuters)
2Extra-nuclear estrogen signalingReactome
3Development Alpha-2 adrenergic receptor activation of ERKGeneGo (Thomson Reuters)
4Chemotaxis CXCR4 signaling pathwayGeneGo (Thomson Reuters)

Gene overlap in member pathways for Development Dopamine D2 receptor transactivation of EGFR SuperPath

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

Disorders associated with Development Dopamine D2 receptor transactivation of EGFR SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentCBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS216.00
2Noonan syndrome 1EnrichmentCBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS211.03
3Noonan syndrome and noonan-related syndromeEnrichmentCBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS110.67
4Lung non-small cell carcinomaEnrichmentEGFR, HRAS, KRAS, NRAS, PIK3CA8.63
5Noonan syndrome 3EnrichmentHRAS, PTPN11, RAF1, SOS18.08
6Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA7.48
7Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.81
8Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC42, PTPN116.60
9Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.15
10Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA5.49
11Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA5.46
12Lung squamous cell carcinomaEnrichmentEGFR, KRAS, PIK3CA5.46
13Breast cancerEnrichmentAKT1, ESR1, GNG3, KRAS, PIK3CA, SHC15.39
14Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA5.34
15Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM35.16
16Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, PIK3CA5.08
17Colorectal cancerEnrichmentAKT1, CCND1, NRAS, PIK3CA, PIK3R1, SRC5.02
18Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR34.82
19Bladder cancerEnrichmentEGFR, HRAS, KRAS, PIK3CA4.69
20Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.50
21Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.45
22Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.45
23Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.45
24Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK2, STAT34.32
25Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K24.15
26Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.15
27Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K24.15
28Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.02
29Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK14.02
30Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF14.02
31Hereditary breast carcinomaEnrichmentAKT1, ESR1, KRAS, PIK3CA3.96
32HemimegalencephalyEnrichmentAKT3, PIK3CA3.93
33Myeloproliferative neoplasmEnrichmentCBL, JAK23.80
34Cowden syndrome 1EnrichmentEGFR, PIK3CA3.76
35Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.72
36Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA3.61
37Ovarian cancerEnrichmentAKT1, CDKN1B, EGFR, KRAS, PIK3CA3.57
38Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF13.49
39MyelofibrosisEnrichmentJAK2, SRC3.48
40Cowden syndromeEnrichmentAKT1, PIK3CA3.38
41Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.28
42Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS3.24
43Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS3.18
44Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.18
45Gallbladder cancerEnrichmentKRAS, PIK3CA3.18
46Follicular thyroid carcinomaEnrichmentHRAS, NRAS3.18
47MeningiomaEnrichmentAKT1, PIK3CA3.12
48Lung cancerEnrichmentEGFR, KRAS, PIK3CA3.11
49Specific learning disabilityEnrichmentMAPK1, PTPN113.06
50Juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN112.98
51Adult hepatocellular carcinomaEnrichmentEGF, PIK3CA2.95
52MicrocephalyEnrichmentGNAO1, GNB1, MAPK1, PTPN112.81
53RhabdomyosarcomaEnrichmentCBL, HRAS2.73
54Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, GNB12.68
55Lung cancer susceptibility 3EnrichmentEGFR, KRAS2.56
56Lynch syndromeEnrichmentKRAS, PIK3CA2.50
57MacrodactylyEnrichmentPIK3CA2.46
58Proteus syndromeEnrichmentAKT12.46
59Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.46
60Noonan syndrome 5EnrichmentRAF12.46
61Noonan syndrome 4EnrichmentSOS12.46
62Melorheostosis, isolatedEnrichmentMAP2K12.46
63Megalencephaly, autosomal dominantEnrichmentPIK3CA2.46
64Cardiomyopathy, dilated, 1nnEnrichmentRAF12.46
65Cowden syndrome 5EnrichmentPIK3CA2.46
66Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.46
67Noonan syndrome 9EnrichmentSOS22.46
68Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.46
69Ventricular tachycardia, familialEnrichmentGNAI22.46
70Cerebral cavernous malformations 4EnrichmentPIK3CA2.46
71Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.46
72Noonan syndrome 13EnrichmentMAPK12.46
73Short syndromeEnrichmentPIK3R12.46
74Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.46
75Developmental and epileptic encephalopathy 17EnrichmentGNAO12.46
76Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.46
77Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.46
78Hemifacial myohyperplasiaEnrichmentPIK3CA2.46
79Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.46
80MelorheostosisEnrichmentMAP2K12.46
81Leopard syndrome 2EnrichmentRAF12.46
82Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.46
83Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.46
84Cowden syndrome 6EnrichmentAKT12.46
85Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.46
86Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.46
87Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.46
88Thrombocytopenia 6EnrichmentSRC2.46
89Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.46
90Sick sinus syndrome 4EnrichmentGNB22.46
91TrigonitisEnrichmentRAF12.46
92Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.46
93HypospadiasEnrichmentPIK3CA2.46
94Capillary hemangiomaEnrichmentAKT32.46
95Rare venous malformationEnrichmentPIK3CA2.46
96Diaphragmatic eventrationEnrichmentPIK3CA2.46
97Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.46
98Rare combined vascular malformationEnrichmentPIK3CA2.46
99Cavernous lymphangiomaEnrichmentPIK3CA2.46
100Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.46
101Gnao1-related disorderEnrichmentGNAO12.46
102Phakomatosis pigmentokeratoticaEnrichmentHRAS2.46
103Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.46
104Eccrine angiomatous hamartomaEnrichmentPIK3CA2.46
105Macrodactyly of toeEnrichmentPIK3CA2.46
106Akt2-related familial partial lipodystrophyEnrichmentAKT22.46
107Myeloma, multipleEnrichmentCCND1, KRAS, PIK3R22.41
108MetachondromatosisEnrichmentPTPN112.39
109Cystic angiomatosis of bone, diffuseEnrichmentRASA12.39
110Leopard syndrome 1EnrichmentPTPN112.39
111Whim syndrome 1EnrichmentCXCR42.39
112T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.39
113Immunodeficiency 105, severe combinedEnrichmentPTPRC2.39
114Immunodeficiency 22EnrichmentLCK2.39
115Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.39
116Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.39
117Takenouchi-kosaki syndromeEnrichmentCDC422.39
118Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.39
119Cd45 deficiencyEnrichmentPTPRC2.39
120Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.39
121Gorham's diseaseEnrichmentRASA12.39
122Nocarh syndromeEnrichmentCDC422.39
123Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.39
124Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.39
125Malignant astrocytomaEnrichmentPTPN112.39
126Hypertension, essentialEnrichmentGNB3, NOS32.39
127Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.31
128Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.29
129Neuroocular syndrome 2, paroxysmal typeEnrichmentDAGLA2.29
130Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.29
131Drug metabolism, altered, cyp2c8-relatedEnrichmentCYP2C82.29
132Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.29
133Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.29
134Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.29
135Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.29
136Long qt syndrome 16EnrichmentCALM32.29
137Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.29
138Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.29
139Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.29
140Long qt syndrome 15EnrichmentCALM22.29
141Lipodystrophy, familial partial, type 8EnrichmentADRA2A2.29
142Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.29
143Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.29
144Arteriovenous malformations of the brainEnrichmentEGFR, KRAS2.29
145StrabismusEnrichmentGNB1, PTPN112.27
146Oculoectodermal syndromeEnrichmentKRAS2.25
147Hypomagnesemia 4, renalEnrichmentEGF2.25
148Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.25
149Melanosis, neurocutaneousEnrichmentNRAS2.25
150Noonan syndrome 6EnrichmentNRAS2.25
151Pulmonary hypertension, primary, 3EnrichmentCAV12.25
152Lipodystrophy, familial partial, type 7EnrichmentCAV12.25
153Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.25
154Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB12.25
155Ovarian dysgenesis 8EnrichmentESR22.25
156Neuroendocrine tumorEnrichmentCDKN1B2.25
157Coronary heart disease 6EnrichmentMMP32.25
158Congenital pulmonary airway malformationEnrichmentKRAS2.25
159Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.25
160Neurocutaneous melanocytosisEnrichmentNRAS2.25
161Fibromatosis, gingival, 1EnrichmentSOS12.16
162Costello syndromeEnrichmentHRAS2.16
163Pituitary adenoma 4, acth-secretingEnrichmentGNAI22.16
164Pulmonic stenosisEnrichmentSOS12.16
165Keratosis, seborrheicEnrichmentPIK3CA2.16
166Roifman-chitayat syndromeEnrichmentPIK3CD2.16
167Night blindness, congenital stationary, type 1hEnrichmentGNB32.16
168Noonan syndrome 8EnrichmentPIK3CA2.16
169Senior-loken syndrome 7EnrichmentAKT32.16
170Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.16
171Immune system diseaseEnrichmentPIK3CD2.16
172Bardet-biedl syndrome 16EnrichmentAKT32.16
173HypopituitarismEnrichmentGNAI22.16
174Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB52.16
175Tafro syndromeEnrichmentMAP2K22.16
176Cerebral visual impairmentEnrichmentGNB12.16
177Wooly hair nevusEnrichmentHRAS2.16
178Non-immune hydrops fetalisEnrichmentHRAS, PTPN112.16
179Severe combined immunodeficiencyEnrichmentLCK, PTPRC2.10
180Ovarian germ cell cancerEnrichmentCBL2.09
181Thrombocythemia 3EnrichmentJAK22.09
182Myopia 28, autosomal recessiveEnrichmentDOK12.09
183Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.09
184Werner syndromeEnrichmentPTPN112.09
185Immunodeficiency 104, severe combinedEnrichmentPTPRC2.09
186PolycythemiaEnrichmentJAK22.09
187Hypereosinophilic syndromeEnrichmentJAK22.09
188Malignant germ cell tumor of ovaryEnrichmentCBL2.09
189Autism spectrum disorderEnrichmentGNB1, MAP2K1, PTPN112.01
190Spinocerebellar ataxia 29EnrichmentITPR11.99
191Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.99
192Long qt syndrome 14EnrichmentCALM11.99
193Pompe disease, infantile-onsetEnrichmentPIK3CA1.98
194Nuchal bleb, familialEnrichmentSOS11.98
195Langerhans cell histiocytosisEnrichmentMAP2K11.98
196Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.98
197SpermatocytomaEnrichmentHRAS1.98
198Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.98
199KeratoacanthomaEnrichmentPIK3CA1.98
200Long qt syndromeEnrichmentCALM1, CALM21.97
201Histiocytoma, angiomatoid fibrousEnrichmentCREB11.95
202Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.95
203Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB11.95
204Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.95
205Intravascular large b-cell lymphomaEnrichmentBCL21.95
206Metaphyseal anadysplasia 2EnrichmentMMP91.95
207Metaphyseal anadysplasiaEnrichmentMMP91.95
208Primary mediastinal large b-cell lymphomaEnrichmentXPO11.95
209Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.92
210Polycythemia veraEnrichmentJAK21.92
211Hyper ige syndromeEnrichmentSTAT31.92
212Wieacker-wolff syndromeEnrichmentRASA11.92
213Tricuspid valve insufficiencyEnrichmentPTPN111.92
214DystoniaEnrichmentCAMK2B, GNB11.87
215Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.86
216Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.86
217Auriculocondylar syndrome 1EnrichmentGNAI31.86
218Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.86
219Achromatopsia 4EnrichmentGNAI31.86
220Cerebrovascular diseaseEnrichmentPIK3CA1.86
221Epidermolytic nevusEnrichmentHRAS1.86
222Familial cerebral cavernous malformationsEnrichmentPIK3CA1.86
223Gingival fibromatosisEnrichmentSOS11.86
224Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.86
225Familial sick sinus syndromeEnrichmentGNB21.86
226Gillespie syndromeEnrichmentITPR11.82
227Erythrocytosis, familial, 1EnrichmentJAK21.79
228Budd-chiari syndromeEnrichmentJAK21.79
229ThrombocytopeniaEnrichmentPTPN11, SRC1.79
230Congenital nervous system abnormalityEnrichmentCAMK2B, GNAO1, GNB51.78
231Nervous system diseaseEnrichmentCAMK2B, GNAO1, GNB51.78
232Thyroid carcinoma, familial medullaryEnrichmentESR21.77
233Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.77
234Estrogen resistanceEnrichmentESR11.77
235High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL21.77
236Migraine without auraEnrichmentESR11.77
237Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.77
238Melanoma of soft tissueEnrichmentCREB11.77
239Capillary malformations, congenitalEnrichmentPIK3CA1.76
240LymphomaEnrichmentPTPN111.70
241Aggressive systemic mastocytosisEnrichmentCBL1.70
242Spinocerebellar ataxia 15EnrichmentITPR11.69
243Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.69
244Dystonia 11, myoclonicEnrichmentDRD21.69
245Hemihyperplasia, isolatedEnrichmentPIK3CA1.69
246Leukemia, acute myeloidEnrichmentKRAS, NRAS1.67
247Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.65
248Congenital generalized lipodystrophyEnrichmentFOS1.65
249Mantle cell lymphomaEnrichmentCCND11.65
250Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.65
251Lung sarcomatoid carcinomaEnrichmentKRAS1.65
252Pilocytic astrocytomaEnrichmentKRAS1.65
253Primary hyperparathyroidismEnrichmentCDKN1B1.65
254Squamous cell carcinoma, head and neckEnrichmentEGFR1.62
255Pilomyxoid astrocytomaEnrichmentRAF11.62
256MegacolonEnrichmentAKT31.62
257Overgrowth syndromeEnrichmentPIK3R11.62
258Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.62
259Hemangioma, capillary infantileEnrichmentRASA11.62
260Basal cell carcinoma 1EnrichmentRASA11.62
261Patent ductus arteriosusEnrichmentPTPN111.62
262Gastric cancerEnrichmentKRAS, PIK3CA1.61
263HypothyroidismEnrichmentGNB11.56
264Choreatic diseaseEnrichmentGNAO11.56
265Essential thrombocythemiaEnrichmentJAK21.55
266Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.55
267Alzheimer disease 2EnrichmentNOS31.55
268Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB11.55
269Von hippel-lindau syndromeEnrichmentCCND11.55
270Insulin-like growth factor iEnrichmentIGF1R1.55
271Pre-eclampsiaEnrichmentNOS31.55
272Follicular lymphomaEnrichmentBCL21.55
273Histiocytoid hemangiomaEnrichmentFOS1.55
274Diffuse cutaneous systemic sclerosisEnrichmentCAV11.55
275Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.52
276Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.52
277Familial adult myoclonic epilepsyEnrichmentADRA2B1.52
278Permanent neonatal diabetes mellitusEnrichmentSTAT31.50
279Limited sclerodermaEnrichmentCAV11.47
280PolymicrogyriaEnrichmentAKT31.47
281Leukemia, acute lymphoblastic 3EnrichmentJAK21.44
282Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.44
283Leukemia, acute lymphoblasticEnrichmentGNB11.43
284Myelodysplastic syndromeEnrichmentGNB11.43
285Movement diseaseEnrichmentGNAO11.43
286Multiple endocrine neoplasia, type iEnrichmentCDKN1B1.41
287Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.40
288Pectus excavatumEnrichmentPTPN111.36
289Aortic valve disease 1EnrichmentSOS11.36
290Nk-cell enteropathyEnrichmentPIK3CB1.36
291Autosomal dominant cerebellar ataxiaEnrichmentDAGLA1.35
292OsteoporosisEnrichmentSRC1.32
29346,xy partial gonadal dysgenesisEnrichmentSOS11.32
294EpicanthusEnrichmentPTPN111.32
295Congenital long qt syndromeEnrichmentPTPN111.32
296Rare genetic intellectual disabilityEnrichmentGNAO11.29
297Acute promyelocytic leukemiaEnrichmentSTAT31.29
298GliosarcomaEnrichmentEGFR1.27
299Leukemia, chronic lymphocyticEnrichmentCCND11.26
300Stroke, ischemicEnrichmentNOS31.26
301Cleft palate, isolatedEnrichmentGNB11.24
302Giant cell glioblastomaEnrichmentEGFR1.24
303Heart, malformation ofEnrichmentMAPK11.22
304Early infantile developmental and epileptic encephalopathyEnrichmentGNAO11.22
305Migraine with or without aura 1EnrichmentESR11.22
306Heritable pulmonary arterial hypertensionEnrichmentCAV11.22
307Multiple sclerosisEnrichmentITPR11.16
308Endometrial cancerEnrichmentPIK3CA1.15
309Human immunodeficiency virus type 1EnrichmentCXCL121.15
310Patent foramen ovaleEnrichmentPTPN111.15
311Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.15
312Protein-deficiency anemiaEnrichmentNRAS1.15
313Hepatocellular carcinomaEnrichmentPIK3CA1.13
314Attention deficit-hyperactivity disorderEnrichmentGNB51.13
315Anterior segment dysgenesisEnrichmentITPR11.13
316Diffuse large b-cell lymphomaEnrichmentSTAT31.13
317Congenital stationary night blindnessEnrichmentGNB31.11
318Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.10
319Sudden infant death syndromeEnrichmentCALM21.08
320Developmental and epileptic encephalopathy 1EnrichmentGNAO11.08
321Alzheimer disease, familial, 1EnrichmentNOS31.03
322ScoliosisEnrichmentPTPN111.03
323Prostate cancerEnrichmentPIK3CA1.02
324Familial hypertrophic cardiomyopathyEnrichmentRAF10.97
325Left ventricular noncompactionEnrichmentRAF10.94
326Developmental and epileptic encephalopathyEnrichmentGNAO10.93
327Myocardial infarctionEnrichmentESR10.93
328Tooth agenesisEnrichmentTGFA0.93
329Cerebral palsyEnrichmentGNB10.90
330Pancreatic cancerEnrichmentKRAS0.88
331Type 2 diabetes mellitusEnrichmentAKT20.87
332West syndromeEnrichmentGNAO10.85
333Hypertrophic cardiomyopathyEnrichmentPTPN110.79
334HypertelorismEnrichmentPIK3CA0.78
335Familial isolated dilated cardiomyopathyEnrichmentRAF10.77
336Inherited cancer-predisposing syndromeEnrichmentCDKN1B, EGFR0.76
337Hereditary breast ovarian cancer syndromeEnrichmentBCAR10.70
338Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.69
339Charcot-marie-tooth diseaseEnrichmentHSPB10.68
340Primary ovarian insufficiencyEnrichmentJAK20.67
341Spastic ataxiaEnrichmentITPR10.62
342Dilated cardiomyopathyEnrichmentRAF10.61
343AutismEnrichmentCAMK2G0.51
344Complex neurodevelopmental disorderEnrichmentGNB20.45

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