EphB-EphrinB Signaling

Pathway network for the EphB-EphrinB Signaling SuperPath

Sources:
  • QIAGEN
  • GeneGo (Thomson Reuters)

Pathways in the EphB-EphrinB Signaling SuperPath

#NameSourceGenes
1EphB-EphrinB SignalingQIAGEN
2Cytoskeleton remodeling Reverse signaling by ephrin BGeneGo (Thomson Reuters)
3Ephrin-Eph SignalingQIAGEN

Gene overlap in member pathways for EphB-EphrinB Signaling SuperPath

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

Disorders associated with EphB-EphrinB Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1LissencephalyEnrichmentACTG1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB38.59
2Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB36.62
3TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B6.02
4Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB35.33
5Noonan syndrome 3EnrichmentHRAS, RAF1, SOS15.09
6Noonan syndrome 1EnrichmentHRAS, RAF1, SOS1, SOS24.94
7RasopathyEnrichmentHRAS, RAF1, SOS1, SOS24.71
8Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.41
9Anastomosing haemangiomaEnrichmentGNA11, GNA144.04
10Noonan syndrome and noonan-related syndromeEnrichmentHRAS, RAF1, SOS13.99
11MicrocephalyEnrichmentACTB, ACTG1, CTNNB1, GNAO1, GNB1, TUBB4A3.92
12Achromatopsia 4EnrichmentGNAI3, GNAT23.75
13Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC423.75
14Capillary malformations, congenitalEnrichmentGNA11, RASA13.46
15Congenital nervous system abnormalityEnrichmentCTNNB1, GNAO1, GNB5, TUBA1A, TUBB4A3.28
16Nervous system diseaseEnrichmentCTNNB1, GNAO1, GNB5, TUBA1A, TUBB4A3.28
17Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, RASA13.14
18Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B3.10
19Arteriovenous malformationEnrichmentEPHB4, HRAS2.98
20Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB12.98
21Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF12.97
22Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS2.88
23Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B2.87
24Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB12.77
25Cerebral palsyEnrichmentGNB1, TUBA1A, TUBB4A2.73
26Juvenile myelomonocytic leukemiaEnrichmentCBL, RRAS2.65
27RhabdomyosarcomaEnrichmentCBL, HRAS2.46
28Lymphatic malformation 5EnrichmentEPHB42.26
29Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.26
30Pseudohypoparathyroidism, type icEnrichmentGNAS2.26
31Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.26
32Osseous heteroplasia, progressiveEnrichmentGNAS2.26
33Caudal duplication anomalyEnrichmentAXIN12.26
34Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.26
35Whim syndrome 1EnrichmentCXCR42.26
36Ventricular tachycardia, familialEnrichmentGNAI22.26
37Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.26
38Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.26
39Noonan syndrome 13EnrichmentMAPK12.26
40Pituitary adenoma 3, multiple typesEnrichmentGNAS2.26
41Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC32.26
42Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.26
43Craniofrontonasal syndromeEnrichmentEFNB12.26
44Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.26
45Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.26
46Developmental and epileptic encephalopathy 17EnrichmentGNAO12.26
47Prostate cancer/brain cancer susceptibilityEnrichmentEPHB22.26
48Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.26
49Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT12.26
50Dystonia 25EnrichmentGNAL2.26
51Night blindness, congenital stationary, type 1gEnrichmentGNAT12.26
52Hypocalcemia, autosomal dominant 2EnrichmentGNA112.26
53Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.26
54Disorders of gnas inactivationEnrichmentGNAS2.26
55Bleeding disorder, platelet-type, 22EnrichmentEPHB22.26
56Takenouchi-kosaki syndromeEnrichmentCDC422.26
57Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.26
58Sick sinus syndrome 4EnrichmentGNB22.26
59Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.26
60Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.26
61Adenoid ameloblastomaEnrichmentCTNNB12.26
62Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.26
63Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.26
64Nocarh syndromeEnrichmentCDC422.26
65Monostotic fibrous dysplasiaEnrichmentGNAS2.26
66Gnao1-related disorderEnrichmentGNAO12.26
67Phakomatosis pigmentokeratoticaEnrichmentHRAS2.26
68Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.26
69Phakomatosis cesiomarmorataEnrichmentGNA112.26
70Kaposiform hemangioendotheliomaEnrichmentGNA142.26
71Mazabraud syndromeEnrichmentGNAS2.26
72Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.26
73Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB42.26
74Microcystic stromal tumorEnrichmentCTNNB12.26
75Vein of galen aneurysmal malformationEnrichmentEPHB42.26
76Cystic angiomatosis of bone, diffuseEnrichmentRASA12.22
77Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.22
78Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.22
79Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.22
80Gorham's diseaseEnrichmentRASA12.22
81Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB2.20
82Baraitser-winter syndrome 1EnrichmentACTB2.20
83Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.20
84Oligodontia-colorectal cancer syndromeEnrichmentAXIN22.20
85Noonan syndrome 5EnrichmentRAF12.20
86Noonan syndrome 4EnrichmentSOS12.20
87Cardiomyopathy, dilated, 1nnEnrichmentRAF12.20
88Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB2.20
89Noonan syndrome 9EnrichmentSOS22.20
90Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.20
91Wiskott-aldrich syndrome 2EnrichmentWIPF12.20
92Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.20
93Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.20
94Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B2.20
95Parkinson-dementia syndromeEnrichmentMAPT2.20
96Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.20
97Supranuclear palsy, progressive, 1EnrichmentMAPT2.20
98Progressive supranuclear palsyEnrichmentMAPT2.20
99Becker nevus syndromeEnrichmentACTB2.20
100Dystonia-deafness syndrome 1EnrichmentACTB2.20
101Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.20
102Leopard syndrome 2EnrichmentRAF12.20
103Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongueEnrichmentLIMS22.20
104Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.20
105Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.20
106Thrombocytopenia 6EnrichmentSRC2.20
107Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.20
108Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.20
109Classic progressive supranuclear palsy syndromeEnrichmentMAPT2.20
110TrigonitisEnrichmentRAF12.20
111Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.20
112Baraitser-winter syndromeEnrichmentACTB2.20
113Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.20
114Congenital myopathy 26EnrichmentTUBA4A2.20
115Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.20
116Atypical progressive supranuclear palsy syndromeEnrichmentMAPT2.20
117Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.20
118Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.20
119Congenital smooth muscle hamartomaEnrichmentACTB2.20
120Autosomal recessive limb-girdle muscular dystrophy type 2wEnrichmentLIMS22.20
121Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.20
122Hepatocellular carcinomaEnrichmentAXIN1, CTNNB12.19
123Congenital stationary night blindnessEnrichmentGNAT1, GNB32.15
124Hydrops fetalis, nonimmuneEnrichmentEPHB4, HRAS2.05
125Lymphatic malformation 1EnrichmentEPHB41.96
126Pseudohypoparathyroidism, type iaEnrichmentGNAS1.96
127Scoliosis, isolated 1EnrichmentMAPK71.96
128Costello syndromeEnrichmentHRAS1.96
129Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.96
130Cutis marmorata telangiectatica congenitaEnrichmentGNA111.96
131Intracranial hypertension, idiopathicEnrichmentEPHB41.96
132Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.96
133Ovarian germ cell cancerEnrichmentCBL1.96
134Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.96
135PseudopseudohypoparathyroidismEnrichmentGNAS1.96
136Angioma, tuftedEnrichmentGNA141.96
137Night blindness, congenital stationary, type 1hEnrichmentGNB31.96
138Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.96
139Childhood hepatocellular carcinomaEnrichmentCTNNB11.96
140Autosomal dominant hypocalcemiaEnrichmentGNA111.96
141PseudohypoparathyroidismEnrichmentGNAS1.96
142Immune system diseaseEnrichmentCDC421.96
143HypopituitarismEnrichmentGNAI21.96
144Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.96
145Hereditary lymphedema iEnrichmentEPHB41.96
146Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.96
147Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.96
148Malignant germ cell tumor of ovaryEnrichmentCBL1.96
149TeratomaEnrichmentCTNNB11.96
150Cerebral visual impairmentEnrichmentGNB11.96
151Phakomatosis cesioflammeaEnrichmentGNA111.96
152Wooly hair nevusEnrichmentHRAS1.96
153Bladder cancerEnrichmentCTNNB1, HRAS1.95
154Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.90
155Fibromatosis, gingival, 1EnrichmentSOS11.90
156Wiskott-aldrich syndromeEnrichmentWIPF11.90
157Pulmonic stenosisEnrichmentSOS11.90
158Pick disease of brainEnrichmentMAPT1.90
159Deafness, autosomal dominant 20EnrichmentACTG11.90
160Baraitser-winter syndrome 2EnrichmentACTG11.90
161Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.90
162Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC41.90
163Keratoconus 9EnrichmentTUBA3D1.90
164Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.90
165Lissencephaly 3EnrichmentTUBA1A1.90
166Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.90
167Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.90
168Torsion dystonia 4EnrichmentTUBB4A1.90
169Multiple benign circumferential skin creases on limbsEnrichmentTUBB1.90
170Immunodeficiency 133EnrichmentARPC51.90
171Continuous spikes and waves during sleepEnrichmentTUBA1A1.90
172Non-immune hydrops fetalisEnrichmentEPHB4, HRAS1.90
173DystoniaEnrichmentGNAL, GNB11.80
174Desmoid disease, hereditaryEnrichmentCTNNB11.78
175Mccune-albright syndromeEnrichmentGNAS1.78
176Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA111.78
177Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.78
178Anus, imperforateEnrichmentCTNNB11.78
179Exudative vitreoretinopathy 7EnrichmentCTNNB11.78
180Large congenital melanocytic nevusEnrichmentHRAS1.78
181Desmoid tumorEnrichmentCTNNB11.78
182Lymphatic malformation 7EnrichmentEPHB41.78
183Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.78
184SpermatocytomaEnrichmentHRAS1.78
185Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.78
186Colorectal cancerEnrichmentAXIN2, CTNNB1, SRC1.76
187Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.75
188Bleeding disorder, platelet-type, 16EnrichmentITGB31.75
189Wieacker-wolff syndromeEnrichmentRASA11.75
190Bleeding disorder, platelet-type, 24EnrichmentITGB31.75
191Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.73
192Nuchal bleb, familialEnrichmentSOS11.73
193Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.73
194Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.73
195Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.73
196Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.66
197Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN11.66
198Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.66
199Pseudohypoparathyroidism, type ibEnrichmentGNAS1.66
200Auriculocondylar syndrome 1EnrichmentGNAI31.66
201Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.66
202Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.66
203PilomatrixomaEnrichmentCTNNB11.66
204Au-kline syndromeEnrichmentHNRNPK1.66
205Alazami syndromeEnrichmentCTNNB11.66
206CraniopharyngiomaEnrichmentCTNNB11.66
207Epidermolytic nevusEnrichmentHRAS1.66
208Familial sick sinus syndromeEnrichmentGNB21.66
209Aminoacylase 1 deficiencyEnrichmentACTB1.60
210Noonan syndrome with multiple lentiginesEnrichmentRAF11.60
211Gingival fibromatosisEnrichmentSOS11.60
212Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.60
213Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.60
214Hemifacial hyperplasiaEnrichmentEFNB11.56
215Exudative vitreoretinopathy 1EnrichmentCTNNB11.56
216Night blindness, congenital stationary, type 1cEnrichmentGNAT11.56
217Myeloproliferative neoplasmEnrichmentCBL1.56
218Aggressive systemic mastocytosisEnrichmentCBL1.56
219Cataract 6, multiple typesEnrichmentEPHA21.53
220Glanzmann thrombasthenia 2EnrichmentITGB31.53
221AniridiaEnrichmentEPHA21.53
222Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.51
223DementiaEnrichmentMAPT1.51
224Coloboma of choroid and retinaEnrichmentACTG11.51
225West syndromeEnrichmentGNAO1, TUBA1A1.51
226Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB1, ITSN11.51
227Melanoma, uvealEnrichmentGNA111.49
228Weyers acrofacial dysostosisEnrichmentCTNNB11.49
229Adrenocortical carcinomaEnrichmentCTNNB11.49
230Klippel-trenaunay-weber syndromeEnrichmentRASA11.45
231Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.45
232Hemihyperplasia, isolatedEnrichmentRHOA1.45
233Hemangioma, capillary infantileEnrichmentRASA11.45
234Basal cell carcinoma 1EnrichmentRASA11.45
235Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB31.45
236ThrombocytopeniaEnrichmentSRC, TUBB11.44
237Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.43
238Early myoclonic encephalopathyEnrichmentTUBA1A1.43
239Nevus, epidermalEnrichmentHRAS1.42
240Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.42
241BrachydactylyEnrichmentGNAS1.42
242Gallbladder cancerEnrichmentCTNNB11.42
243Follicular thyroid carcinomaEnrichmentHRAS1.42
244Glanzmann thrombasthenia 1EnrichmentITGB31.39
245Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.39
246MyelofibrosisEnrichmentSRC1.37
247Semantic dementiaEnrichmentMAPT1.37
248Pilomyxoid astrocytomaEnrichmentRAF11.37
249Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.36
250Lennox-gastaut syndromeEnrichmentMAPK101.36
251Exudative vitreoretinopathyEnrichmentCTNNB11.36
252HypothyroidismEnrichmentGNB11.36
253Choreatic diseaseEnrichmentGNAO11.36
254Early-onset posterior polar cataractEnrichmentEPHA21.33
255Coronary heart disease 5EnrichmentKALRN1.31
256Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.31
257Primary hyperaldosteronismEnrichmentGNAS1.31
258CryptorchidismEnrichmentTUBA1A1.31
259AchromatopsiaEnrichmentGNAT21.27
260Tooth agenesis, selective, 1EnrichmentAXIN21.26
261Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A1.26
262Progressive non-fluent aphasiaEnrichmentMAPT1.26
263Behavioral variant of frontotemporal dementiaEnrichmentMAPT1.26
264Leukemia, acute lymphoblasticEnrichmentGNB11.23
265Myelodysplastic syndromeEnrichmentGNB11.23
266Lung non-small cell carcinomaEnrichmentHRAS1.23
267Movement diseaseEnrichmentGNAO11.23
268Specific learning disabilityEnrichmentMAPK11.23
269Cat eye syndromeEnrichmentACTG11.22
270Lip and oral cavity carcinomaEnrichmentHRAS1.19
271Frontotemporal dementia 1EnrichmentMAPT1.18
272Combined immunodeficiencyEnrichmentARPC1B1.18
273Combined t cell and b cell immunodeficiencyEnrichmentARPC1B1.18
274Combined t and b cell immunodeficiencyEnrichmentARPC1B1.18
275Congenital hypothyroidismEnrichmentTUBB11.14
276MedulloblastomaEnrichmentCTNNB11.13
277Cone-rod dystrophy 6EnrichmentGNAT21.13
278Neural tube defectsEnrichmentITGB11.13
279Aortic valve disease 1EnrichmentSOS11.11
280Alzheimer's diseaseEnrichmentMAPT1.11
281Rare genetic intellectual disabilityEnrichmentGNAO11.10
282CataractEnrichmentEPHA21.09
283OsteoporosisEnrichmentSRC1.07
28446,xy partial gonadal dysgenesisEnrichmentSOS11.07
285Hypertension, essentialEnrichmentGNB31.05
286Cleft palate, isolatedEnrichmentGNB11.05
287Polycystic liver diseaseEnrichmentCTNNB11.05
288Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.05
289Corpus callosum, agenesis ofEnrichmentTUBA1A1.05
290Isolated corpus callosum agenesisEnrichmentTUBA1A1.05
291Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A1.05
292Heart, malformation ofEnrichmentMAPK11.02
293Human immunodeficiency virus type 1EnrichmentCXCL121.02
294Early infantile developmental and epileptic encephalopathyEnrichmentGNAO11.02
295Hydrocephalus, congenital, 1EnrichmentTUBB1.02
296Isolated congenital microcephalyEnrichmentTUBA3E1.02
297Cataract 44EnrichmentEPHA21.01
298Esophageal atresia/tracheoesophageal fistulaEnrichmentITSN11.00
299Alzheimer disease, familial, 1EnrichmentMAPT0.99
300Dandy-walker syndromeEnrichmentTUBA1A0.99
301Early-onset nuclear cataractEnrichmentEPHA20.99
302HepatoblastomaEnrichmentCTNNB10.96
303Attention deficit-hyperactivity disorderEnrichmentGNB50.94
304Myocardial infarctionEnrichmentITGB30.91
305Cone dystrophyEnrichmentGNAT20.90
306Tooth agenesisEnrichmentAXIN20.89
307Developmental and epileptic encephalopathy 1EnrichmentGNAO10.89
308Ovarian cancerEnrichmentAXIN2, CTNNB10.88
309Tetralogy of fallotEnrichmentEPHB40.87
310StrabismusEnrichmentGNB10.86
311Parkinson disease, late-onsetEnrichmentMAPT0.85
312Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.85
313Prostate cancerEnrichmentEPHB20.83
314Differentiated thyroid carcinomaEnrichmentHRAS0.83
315Complex neurodevelopmental disorderEnrichmentGNB2, RAC30.82
316Auditory neuropathyEnrichmentTUBB4A0.82
317Hirschsprung disease 1EnrichmentAXIN20.78
318Eye diseaseEnrichmentGNAT20.75
319Developmental and epileptic encephalopathyEnrichmentGNAO10.74
320Familial hypertrophic cardiomyopathyEnrichmentRAF10.73
321CakutEnrichmentACTG10.72
322Left ventricular noncompactionEnrichmentRAF10.70
323Non-syndromic genetic deafnessEnrichmentACTG10.69
324Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.68
325Nonsyndromic hearing lossEnrichmentACTG10.63
326Optic atrophy plus syndromeEnrichmentTUBB60.62
327Body mass index quantitative trait locus 11EnrichmentGNAS0.62
328HypertelorismEnrichmentEFNB10.60
329Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.55
330Spastic ataxiaEnrichmentTUBB30.55
331Familial isolated dilated cardiomyopathyEnrichmentRAF10.55
332Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMAPT0.51
333Breast cancerEnrichmentGNG30.47
334Rare genetic deafnessEnrichmentACTG10.41
335Dilated cardiomyopathyEnrichmentRAF10.40
336Leber plus diseaseEnrichmentTUBB4B0.35
337Autism spectrum disorderEnrichmentGNB10.34
338Hereditary retinal dystrophyEnrichmentGNAT1, GNAT20.32
339Fundus dystrophyEnrichmentGNAT1, GNAT20.32
340Inherited cancer-predisposing syndromeEnrichmentAXIN20.25
341Retinitis pigmentosaEnrichmentGNAT10.16

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