EPH-Ephrin signaling

Pathway network for the EPH-Ephrin signaling SuperPath

Sources:
  • Reactome
  • GeneGo (Thomson Reuters)
  • PubChem

Pathways in the EPH-Ephrin signaling SuperPath

#NameSourceGenes
1EPH-Ephrin signalingReactome
2Cell adhesion Ephrins signalingGeneGo (Thomson Reuters)
3EPH-ephrin mediated repulsion of cellsReactome
4Cytoskeleton remodeling Fibronectin-binding integrins in cell motilityGeneGo (Thomson Reuters)
5EPHB-mediated forward signalingReactome
6EPHB forward signalingPubChem
7Ephrin signalingReactome
8EphrinB-EPHB pathwayPubChem

Gene overlap in member pathways for EPH-Ephrin signaling SuperPath

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

Disorders associated with EPH-Ephrin signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS, MAP2K1, PIK3CA, RASA110.66
2Arteriovenous malformationEnrichmentEPHB4, HRAS, MAP2K1, PIK3CA, RASA110.57
3Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, MAP2K1, PIK3CA, RASA18.93
4Lung non-small cell carcinomaEnrichmentHRAS, MAP2K1, PIK3CA5.63
5Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG15.03
6Immune system diseaseEnrichmentCDC42, PIK3CD4.95
7Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.74
8Noonan syndrome 1EnrichmentHRAS, MAP2K1, RRAS4.61
9Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.47
10Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.47
11Alzheimer disease 4EnrichmentPSEN1, PSEN24.38
12Capillary malformations, congenitalEnrichmentPIK3CA, RASA14.22
13Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R24.17
14Klippel-trenaunay-weber syndromeEnrichmentPIK3CA, RASA14.04
15Nevus, epidermalEnrichmentHRAS, PIK3CA3.90
16Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.78
17Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN23.54
18Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC, GRIN1, GRIN2B, ITSN13.46
19Noonan syndrome 3EnrichmentHRAS, RAF13.44
20Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.40
21Lymphatic malformation 5EnrichmentEPHB43.35
22Craniofrontonasal syndromeEnrichmentEFNB13.35
23Prostate cancer/brain cancer susceptibilityEnrichmentEPHB23.35
24Bleeding disorder, platelet-type, 22EnrichmentEPHB23.35
25Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB43.35
26Vein of galen aneurysmal malformationEnrichmentEPHB43.35
27Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF13.32
28Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, ITGB33.30
29Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.30
30ThrombocytopeniaEnrichmentACTN1, ITGB3, SRC3.25
31Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K13.20
32Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN1, RASA13.18
33Hemangioma, capillary infantileEnrichmentMYH9, RASA13.18
34Lymphatic malformation 1EnrichmentEPHB43.05
35Intracranial hypertension, idiopathicEnrichmentEPHB43.05
36Hereditary lymphedema iEnrichmentEPHB43.05
37Colorectal cancerEnrichmentPIK3CA, PIK3R1, SRC2.88
38Lymphatic malformation 7EnrichmentEPHB42.88
39Capillary malformation-arteriovenous malformation 2EnrichmentEPHB42.88
40Intellectual developmental disorder, x-linked 30EnrichmentPAK32.88
41Knobloch syndrome 2EnrichmentPAK22.88
42Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.88
43Thrombocytopenia 6EnrichmentSRC2.88
44Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.88
45Hydrops fetalis, nonimmuneEnrichmentEPHB4, HRAS2.72
46RasopathyEnrichmentHRAS, MAP2K12.72
47Hemifacial hyperplasiaEnrichmentEFNB12.66
48Bladder cancerEnrichmentHRAS, PIK3CA2.62
49Prostate cancerEnrichmentEPHB2, PIK3CA2.62
50MacrodactylyEnrichmentPIK3CA2.60
51Cystic angiomatosis of bone, diffuseEnrichmentRASA12.60
52Melorheostosis, isolatedEnrichmentMAP2K12.60
53Megalencephaly, autosomal dominantEnrichmentPIK3CA2.60
54Cowden syndrome 5EnrichmentPIK3CA2.60
55Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.60
56Developmental and epileptic encephalopathy 53EnrichmentSYNJ12.60
57AtransferrinemiaEnrichmentTF2.60
58Cerebral cavernous malformations 4EnrichmentPIK3CA2.60
59Short syndromeEnrichmentPIK3R12.60
60Hemifacial myohyperplasiaEnrichmentPIK3CA2.60
61Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.60
62MelorheostosisEnrichmentMAP2K12.60
63Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.60
64Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.60
65Takenouchi-kosaki syndromeEnrichmentCDC422.60
66Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.60
67HypospadiasEnrichmentPIK3CA2.60
68Rare venous malformationEnrichmentPIK3CA2.60
69Gorham's diseaseEnrichmentRASA12.60
70Diaphragmatic eventrationEnrichmentPIK3CA2.60
71Nocarh syndromeEnrichmentCDC422.60
72Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.60
73Rare combined vascular malformationEnrichmentPIK3CA2.60
74Cavernous lymphangiomaEnrichmentPIK3CA2.60
75Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.60
76Phakomatosis pigmentokeratoticaEnrichmentHRAS2.60
77Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.60
78Eccrine angiomatous hamartomaEnrichmentPIK3CA2.60
79Macrodactyly of toeEnrichmentPIK3CA2.60
80Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.58
81Non-immune hydrops fetalisEnrichmentEPHB4, HRAS2.57
82Nonsyndromic hearing lossEnrichmentACTG1, EPHA10, MYH142.56
83Baraitser-winter syndrome 1EnrichmentACTB2.51
84Developmental and epileptic encephalopathy 27EnrichmentGRIN2B2.51
85Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.51
86Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B2.51
87Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN12.51
88Becker nevus syndromeEnrichmentACTB2.51
89Dystonia-deafness syndrome 1EnrichmentACTB2.51
90Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B2.51
91Developmental and epileptic encephalopathy 101EnrichmentGRIN12.51
92Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN12.51
93Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.51
94Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN2.51
95Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.51
96Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM12.51
97Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.51
98Baraitser-winter syndromeEnrichmentACTB2.51
99Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B2.51
100Congenital smooth muscle hamartomaEnrichmentACTB2.51
101Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.51
102Intellectual disability, autosomal dominant 8EnrichmentGRIN12.51
103West syndromeEnrichmentDNM1, GRIN1, GRIN2B2.50
104Focal segmental glomerulosclerosis 1EnrichmentACTN42.47
105Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.47
106Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN22.47
107Pulmonary hypertension, primary, 3EnrichmentCAV12.47
108Congenital myopathy 8EnrichmentACTN22.47
109Lipodystrophy, familial partial, type 7EnrichmentCAV12.47
110Nemaline myopathy 7EnrichmentCFL22.47
111Cardiomyopathy, dilated, 1wEnrichmentVCL2.47
112Actn3 deficiencyEnrichmentACTN32.47
113Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL2.47
114Bleeding disorder, platelet-type, 15EnrichmentACTN12.47
115Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.47
116Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN22.47
117Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.47
118Capillary leak syndromeEnrichmentTLN12.47
119Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S12.42
120Acne inversa, familial, 1EnrichmentNCSTN2.42
121Deafness, autosomal dominant 88EnrichmentEPHA102.42
122Cardiomyopathy, dilated, 1vEnrichmentPSEN22.42
123Alzheimer disease 18EnrichmentADAM102.42
124Cardiomyopathy, dilated, 1uEnrichmentPSEN12.42
125Reticulate acropigmentation of kitamuraEnrichmentADAM102.42
126Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN2.42
127Acne inversa, familial, 3EnrichmentPSEN12.42
128Congenital insensitivity to pain with severe intellectual disabilityEnrichmentCLTCL12.42
129Pash syndromeEnrichmentNCSTN2.42
130Huntington's disease-likeEnrichmentPSEN22.42
131Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.38
132Noonan syndrome 5EnrichmentRAF12.38
133Cardiomyopathy, dilated, 1nnEnrichmentRAF12.38
134Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.38
135Frontometaphyseal dysplasia 2EnrichmentMAP3K72.38
136Ventricular tachycardia, familialEnrichmentGNAI22.38
137Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.38
138Developmental and epileptic encephalopathy 17EnrichmentGNAO12.38
139Leopard syndrome 2EnrichmentRAF12.38
140Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.38
141TrigonitisEnrichmentRAF12.38
142Gnao1-related disorderEnrichmentGNAO12.38
143Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB102.38
144Costello syndromeEnrichmentHRAS2.30
145Keratosis, seborrheicEnrichmentPIK3CA2.30
146Noonan syndrome 8EnrichmentPIK3CA2.30
147Parkinson disease 20, early-onsetEnrichmentSYNJ12.30
148Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.30
149Wooly hair nevusEnrichmentHRAS2.30
150Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, MYH14, MYH92.29
151Knobloch syndromeEnrichmentPAK22.28
152Deafness, autosomal dominant 20EnrichmentACTG12.21
153Baraitser-winter syndrome 2EnrichmentACTG12.21
154Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC42.21
155Bilateral generalized polymicrogyriaEnrichmentGRIN12.21
156Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC52.21
157Immunodeficiency 133EnrichmentARPC52.21
158Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, DNM1, LIMK12.20
159MicrocephalyEnrichmentACTB, ACTG1, GRIN2B2.19
160Knobloch syndrome 1EnrichmentPAK22.18
161Deafness, autosomal dominant 17EnrichmentMYH92.17
162Deafness, autosomal dominant 4aEnrichmentMYH142.17
163Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH142.17
164Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH92.17
165Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN12.17
166Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN12.17
167Roifman-chitayat syndromeEnrichmentPIK3CD2.17
168HypertelorismEnrichmentEFNB1, PIK3CA2.13
169Pompe disease, infantile-onsetEnrichmentPIK3CA2.12
170Langerhans cell histiocytosisEnrichmentMAP2K12.12
171Anus, imperforateEnrichmentMAP4K42.12
172Developmental and epileptic encephalopathy 31bEnrichmentDNM12.12
173Large congenital melanocytic nevusEnrichmentHRAS2.12
174Wieacker-wolff syndromeEnrichmentRASA12.12
175SpermatocytomaEnrichmentHRAS2.12
176Atypical juvenile parkinsonismEnrichmentSYNJ12.12
177KeratoacanthomaEnrichmentPIK3CA2.12
178Alzheimer disease 3EnrichmentPSEN12.12
179Pick disease of brainEnrichmentPSEN12.12
180Metaphyseal anadysplasia 2EnrichmentMMP92.12
181Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M12.12
182Metaphyseal anadysplasiaEnrichmentMMP92.12
183Pituitary adenoma 4, acth-secretingEnrichmentGNAI22.08
184HypopituitarismEnrichmentGNAI22.08
185MyelofibrosisEnrichmentSRC2.03
186Complex neurodevelopmental disorderEnrichmentGRIN2B, MYH10, PAK3, TIAM12.02
187Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS2.00
188Cardiofaciocutaneous syndrome 1EnrichmentMAP2K12.00
189Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN12.00
190Cardiofaciocutaneous syndromeEnrichmentMAP2K12.00
191Cerebrovascular diseaseEnrichmentPIK3CA2.00
192Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC422.00
193Epidermolytic nevusEnrichmentHRAS2.00
194Familial cerebral cavernous malformationsEnrichmentPIK3CA2.00
195Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.99
196Bleeding disorder, platelet-type, 16EnrichmentITGB31.99
197Glomerulopathy with fibronectin deposits 2EnrichmentFN11.99
198Intrinsic cardiomyopathyEnrichmentACTN21.99
199Bleeding disorder, platelet-type, 24EnrichmentITGB31.99
200Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.95
201Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.95
202Tetralogy of fallotEnrichmentEPHB41.94
203Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.93
204AstigmatismEnrichmentGRIN2B1.91
205Aminoacylase 1 deficiencyEnrichmentACTB1.91
206Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.91
207Developmental and epileptic encephalopathy 31aEnrichmentDNM11.90
208HemimegalencephalyEnrichmentPIK3CA1.90
209Frontometaphyseal dysplasiaEnrichmentMAP3K71.90
210Aortic aneurysm, familial thoracic 4EnrichmentMYH111.87
211Cataract 35EnrichmentMYH91.87
212Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH111.87
213Pseudosarcomatous fibromatosisEnrichmentMYH91.87
214Visceral myopathy 2EnrichmentMYH111.87
215Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.87
216Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.87
217Familial isolated dilated cardiomyopathyEnrichmentACTN2, VCL1.86
218Cowden syndrome 1EnrichmentPIK3CA1.83
219Basal cell carcinoma 1EnrichmentRASA11.83
220Breast adenocarcinomaEnrichmentPIK3CA1.83
221Lung squamous cell carcinomaEnrichmentPIK3CA1.83
222Dowling-degos disease 1EnrichmentADAM101.83
223Dowling-degos diseaseEnrichmentPSENEN1.83
224Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.83
225Breast cancerEnrichmentPIK3CA, SHC11.82
226Coloboma of choroid and retinaEnrichmentACTG11.81
227Sleep disorderEnrichmentGRIN2B1.81
228Auriculocondylar syndrome 1EnrichmentGNAI31.78
229Achromatopsia 4EnrichmentGNAI31.78
230Noonan syndrome with multiple lentiginesEnrichmentRAF11.78
231Martsolf syndrome 1EnrichmentARHGAP351.77
232Glanzmann thrombasthenia 2EnrichmentITGB31.77
233Diffuse cutaneous systemic sclerosisEnrichmentCAV11.77
234Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.76
235Gallbladder cancerEnrichmentPIK3CA1.76
236Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.76
237Follicular thyroid carcinomaEnrichmentHRAS1.76
238Overgrowth syndromeEnrichmentPIK3R11.76
239OsteoporosisEnrichmentSRC1.73
240Cataract 6, multiple typesEnrichmentEPHA21.73
241DementiaEnrichmentPSEN11.73
242AniridiaEnrichmentEPHA21.73
243Renal hypodysplasia/aplasia 1EnrichmentMAP4K41.70
244Lennox-gastaut syndromeEnrichmentDNM11.70
245Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.70
246Tricuspid valve insufficiencyEnrichmentMYH111.70
247Anterior segment dysgenesis 5EnrichmentARHGAP351.70
248Limited sclerodermaEnrichmentCAV11.70
249Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB31.70
250Typical nemaline myopathyEnrichmentCFL21.70
251Coronary heart disease 5EnrichmentKALRN1.65
252Adult hepatocellular carcinomaEnrichmentPIK3CA1.65
253Cowden syndromeEnrichmentPIK3CA1.65
254Inflammatory myofibroblastic tumorEnrichmentCLTC1.65
255Glanzmann thrombasthenia 1EnrichmentITGB31.63
256Non-syndromic genetic deafnessEnrichmentACTG1, MYH141.62
257Semantic dementiaEnrichmentPSEN11.58
258Renal cell carcinoma with mit translocationsEnrichmentCLTC1.58
259Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYH111.58
260Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentMYH111.58
261Mitral valve insufficiencyEnrichmentMYH111.58
262Pilomyxoid astrocytomaEnrichmentRAF11.54
263Juvenile myelomonocytic leukemiaEnrichmentRRAS1.53
264Early-onset parkinson's diseaseEnrichmentSYNJ11.53
265MeningiomaEnrichmentPIK3CA1.53
266Early-onset posterior polar cataractEnrichmentEPHA21.53
267Dilated cardiomyopathyEnrichmentACTN2, VCL1.52
268Cat eye syndromeEnrichmentACTG11.52
269Stereotypic movement disorderEnrichmentDNM11.49
270Visceral myopathy 1EnrichmentMYH111.48
271Deafness, autosomal recessive 63EnrichmentMYH91.48
272Congenital ptosisEnrichmentMYH101.48
273Choreatic diseaseEnrichmentGNAO11.48
274Myoclonic-atonic epilepsyEnrichmentAP2M11.48
275Progressive non-fluent aphasiaEnrichmentPSEN11.48
276Behavioral variant of frontotemporal dementiaEnrichmentPSEN11.48
277Peters-plus syndromeEnrichmentARHGAP351.48
278Combined immunodeficiencyEnrichmentARPC1B1.47
279Combined t cell and b cell immunodeficiencyEnrichmentARPC1B1.47
280Combined t and b cell immunodeficiencyEnrichmentARPC1B1.47
281Heritable pulmonary arterial hypertensionEnrichmentCAV11.44
282Lynch syndromeEnrichmentPIK3CA1.43
283RhabdomyosarcomaEnrichmentHRAS1.40
284Intestinal pseudo-obstructionEnrichmentMYH111.40
285Frontotemporal dementia 1EnrichmentPSEN11.39
286Neural tube defectsEnrichmentITGB11.36
287Nk-cell enteropathyEnrichmentPIK3CB1.36
288Movement diseaseEnrichmentGNAO11.34
289Arteriovenous malformations of the brainEnrichmentMAP4K41.33
290Esophageal atresia/tracheoesophageal fistulaEnrichmentITSN11.33
291Alzheimer's diseaseEnrichmentPSEN11.32
292Endometrial cancerEnrichmentPIK3CA1.29
293CataractEnrichmentEPHA21.29
294Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN21.28
295Hepatocellular carcinomaEnrichmentPIK3CA1.27
296Early infantile developmental and epileptic encephalopathyEnrichmentGRIN11.27
297Familial thoracic aortic aneurysm and dissectionEnrichmentMYH111.23
298Williams-beuren syndromeEnrichmentLIMK11.22
299CraniosynostosisEnrichmentGRIN2B1.22
300Developmental and epileptic encephalopathy 1EnrichmentSYNJ11.22
301Rare genetic intellectual disabilityEnrichmentGNAO11.21
302Alzheimer disease, familial, 1EnrichmentPSEN11.21
303Cataract 44EnrichmentEPHA21.21
304LissencephalyEnrichmentACTG11.20
305Early-onset nuclear cataractEnrichmentEPHA21.18
306Centronuclear myopathyEnrichmentCFL21.16
307Differentiated thyroid carcinomaEnrichmentHRAS1.15
308ScoliosisEnrichmentGRIN2B1.14
309Myocardial infarctionEnrichmentITGB31.14
310Lung cancerEnrichmentPIK3CA1.11
311Skin diseaseEnrichmentNCSTN1.10
312Microphthalmia/coloboma 12EnrichmentMYH101.08
313Aortic aneurysm, familial thoracic 1EnrichmentMYH111.05
314Severe covid-19EnrichmentITGAV1.03
315Coloboma of maculaEnrichmentMYH101.02
316MyopiaEnrichmentMYH111.02
317Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.02
318Rare genetic deafnessEnrichmentACTG1, MYH91.01
319CakutEnrichmentACTG11.00
320HypertensionEnrichmentMYH90.99
321Gastric cancerEnrichmentPIK3CA0.99
322Hereditary breast carcinomaEnrichmentPIK3CA0.98
323Familial hypertrophic cardiomyopathyEnrichmentACTN20.97
324Genetic steroid-resistant nephrotic syndromeEnrichmentACTN40.96
325Left ventricular noncompactionEnrichmentACTN20.95
326Cerebral palsyEnrichmentGRIN2B0.94
327EpilepsyEnrichmentGRIN2B0.93
328Benign epilepsy with centrotemporal spikesEnrichmentGRIN10.92
329Centralopathic epilepsyEnrichmentGRIN10.90
330Nephrotic syndromeEnrichmentFN10.87
331Hypertrophic cardiomyopathyEnrichmentACTN20.87
332Developmental and epileptic encephalopathyEnrichmentGNAO10.85
333Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIN10.78
334Myeloma, multipleEnrichmentPIK3R20.76
335Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPSEN10.71
336Ovarian cancerEnrichmentPIK3CA0.65
337Autism spectrum disorderEnrichmentMAP2K10.62
338Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYH110.59
339Body mass index quantitative trait locus 11EnrichmentMYH90.54
340Congenital nervous system abnormalityEnrichmentPSEN10.48
341Nervous system diseaseEnrichmentPSEN10.48
342Deafness, autosomal recessiveEnrichmentMYH90.46
343Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.46
344Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMYH90.35

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