Development VEGF signaling via VEGFR2 - generic cascades

Pathway network for the Development VEGF signaling via VEGFR2 - generic cascades SuperPath

Sources:
  • GeneGo (Thomson Reuters)
  • R&D Systems

Pathways in the Development VEGF signaling via VEGFR2 - generic cascades SuperPath

#NameSourceGenes
1Development VEGF signaling via VEGFR2 - generic cascadesGeneGo (Thomson Reuters)
2VEGF - VEGF R2 Signaling PathwaysR&D Systems
3Development VEGF signaling and activationGeneGo (Thomson Reuters)

Gene overlap in member pathways for Development VEGF signaling via VEGFR2 - generic cascades SuperPath

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

Disorders associated with Development VEGF signaling via VEGFR2 - generic cascades SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS216.00
2Noonan syndrome and noonan-related syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS110.51
3Noonan syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS210.41
4Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K28.66
5Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K28.66
6Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA, RASA17.56
7Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA, RASA17.33
8Noonan syndrome 3EnrichmentKRAS, PTPN11, RAF1, SOS17.13
9Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.62
10Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT36.49
11Noonan syndrome with multiple lentiginesEnrichmentBRAF, PTPN11, RAF15.89
12Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA, RASA15.69
13Bladder cancerEnrichmentBRCA1, HRAS, NF1, PIK3CA5.31
14Lung non-small cell carcinomaEnrichmentHRAS, MAP2K1, PIK3CA5.02
15Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF14.96
16Breast cancerEnrichmentAKT1, BRCA1, ESR1, JUN, PIK3CA4.94
17Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.81
18Colorectal cancerEnrichmentAKT1, BRCA1, PIK3CA, PIK3R1, SRC4.62
19Hereditary breast carcinomaEnrichmentAKT1, BRCA1, ESR1, PIK3CA4.57
20RhabdomyosarcomaEnrichmentBRCA1, HRAS, NF14.49
21Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.33
22Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.33
23Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.33
24Pulmonic stenosisEnrichmentBRAF, SOS14.32
25Immune system diseaseEnrichmentCDC42, PIK3CD4.32
26Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.30
27Neurofibromatosis-noonan syndromeEnrichmentMAP2K2, NF14.03
28Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.03
29Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB3, STAT33.85
30Langerhans cell histiocytosisEnrichmentBRAF, MAP2K13.85
31Capillary malformations, congenitalEnrichmentPIK3CA, RASA13.81
32HemimegalencephalyEnrichmentAKT3, PIK3CA3.81
33Klippel-trenaunay-weber syndromeEnrichmentPIK3CA, RASA13.64
34Hemangioma, capillary infantileEnrichmentKDR, RASA13.64
35Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.64
36Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC42, PTPN113.55
37Diffuse large b-cell lymphomaEnrichmentBRAF, FOXO1, STAT33.54
38Nevus, epidermalEnrichmentHRAS, PIK3CA3.49
39Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.49
40Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF13.37
41Histiocytoid hemangiomaEnrichmentFOS, FOSB3.33
42Alzheimer disease 2EnrichmentNOS3, PLAU3.31
43Cowden syndromeEnrichmentAKT1, PIK3CA3.26
44Gastric cancerEnrichmentBRCA1, NF1, PIK3CA3.18
45Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.16
46Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.14
47MyelofibrosisEnrichmentJAK2, SRC3.01
48Gallbladder cancerEnrichmentBRAF, KRAS3.01
49MeningiomaEnrichmentAKT1, PIK3CA3.00
50Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.00
51Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA2.76
52Stroke, ischemicEnrichmentNOS3, PRKCH2.67
53Specific learning disabilityEnrichmentMAPK1, PTPN112.60
54Juvenile myelomonocytic leukemiaEnrichmentKRAS, PTPN112.52
55Endometrial cancerEnrichmentBRCA1, PIK3CA2.51
56Nk-cell enteropathyEnrichmentJAK3, PIK3CB2.45
57MalariaEnrichmentICAM1, IKBKG2.43
58Palmoplantar keratoderma, punctate type iiEnrichmentBRCA12.40
59MacrodactylyEnrichmentPIK3CA2.40
60Proteus syndromeEnrichmentAKT12.40
61Cystic angiomatosis of bone, diffuseEnrichmentRASA12.40
62Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.40
63Incontinentia pigmentiEnrichmentIKBKG2.40
64Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.40
65Noonan syndrome 5EnrichmentRAF12.40
66Melorheostosis, isolatedEnrichmentMAP2K12.40
67Megalencephaly, autosomal dominantEnrichmentPIK3CA2.40
68Cardiomyopathy, dilated, 1nnEnrichmentRAF12.40
69Cowden syndrome 5EnrichmentPIK3CA2.40
70Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.40
71Fetal encasement syndromeEnrichmentCHUK2.40
72Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.40
73Cerebral cavernous malformations 4EnrichmentPIK3CA2.40
74Immunodeficiency 15bEnrichmentIKBKB2.40
75Noonan syndrome 13EnrichmentMAPK12.40
76Immunodeficiency 15aEnrichmentIKBKB2.40
77Immunodeficiency 92EnrichmentREL2.40
78Short syndromeEnrichmentPIK3R12.40
79Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.40
80Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.40
81Infant-type hemispheric gliomaEnrichmentBRCA12.40
82Microvascular complications of diabetes 1EnrichmentVEGFA2.40
83Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.40
84Hemifacial myohyperplasiaEnrichmentPIK3CA2.40
85Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.40
86Spinocerebellar ataxia 14EnrichmentPRKCG2.40
87MelorheostosisEnrichmentMAP2K12.40
88Leopard syndrome 2EnrichmentRAF12.40
89Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.40
90Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.40
91Cowden syndrome 6EnrichmentAKT12.40
92Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.40
93Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.40
94Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.40
95Thrombocytopenia 6EnrichmentSRC2.40
96Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.40
97Immunodeficiency 53EnrichmentRELB2.40
98Bartsocas-papas syndrome 2EnrichmentCHUK2.40
99TrigonitisEnrichmentRAF12.40
100Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.40
101Tufted angioma of skinEnrichmentKDR2.40
102Plexiform neurofibromaEnrichmentNF12.40
103NeurofibromaEnrichmentNF12.40
104HypospadiasEnrichmentPIK3CA2.40
105Capillary hemangiomaEnrichmentAKT32.40
106NeurofibromatosisEnrichmentNF12.40
107Chromosome 17q11.2 deletion syndromeEnrichmentNF12.40
108Optic nerve gliomaEnrichmentNF12.40
109Rare venous malformationEnrichmentPIK3CA2.40
110Gorham's diseaseEnrichmentRASA12.40
111Diaphragmatic eventrationEnrichmentPIK3CA2.40
112Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.40
113Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.40
114Rare combined vascular malformationEnrichmentPIK3CA2.40
115Cavernous lymphangiomaEnrichmentPIK3CA2.40
116Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.40
117Phakomatosis pigmentokeratoticaEnrichmentHRAS2.40
118Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.40
119Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.40
120Eccrine angiomatous hamartomaEnrichmentPIK3CA2.40
121Macrodactyly of toeEnrichmentPIK3CA2.40
122Primary peritoneal carcinomaEnrichmentBRCA12.40
123Akt2-related familial partial lipodystrophyEnrichmentAKT22.40
124Lung cancer susceptibility 3EnrichmentBRAF, KRAS2.39
12546,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS12.37
126ThrombocytopeniaEnrichmentITGB3, PTPN11, SRC2.35
127Wilms tumor 1EnrichmentBRAF, GPC32.33
128Ovarian cancerEnrichmentAKT1, CTNNB1, MAP3K1, PIK3CA2.24
129Prostate cancerEnrichmentBRCA1, PIK3CA2.23
130Alzheimer disease, familial, 1EnrichmentNOS3, PLAU2.20
131Myeloma, multipleEnrichmentBRAF, KRAS, PIK3R22.16
132MetachondromatosisEnrichmentPTPN112.16
133Glycoprotein storage diseaseEnrichmentGAA2.16
134Oculoectodermal syndromeEnrichmentKRAS2.16
135Pallister-killian syndromeEnrichmentARAF2.16
136Noonan syndrome 4EnrichmentSOS12.16
137Noonan syndrome 7EnrichmentBRAF2.16
138Leopard syndrome 3EnrichmentBRAF2.16
139Leopard syndrome 1EnrichmentPTPN112.16
140Noonan syndrome 9EnrichmentSOS22.16
141Knobloch syndrome 2EnrichmentPAK22.16
142T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.16
143Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.16
144LymphangiomaEnrichmentBRAF2.16
145Phace associationEnrichmentBRAF2.16
146Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB12.16
147Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.16
148Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.16
149Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.16
150Neurocardiofaciodigital syndromeEnrichmentMAPKAPK52.16
151Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.16
152Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.16
153Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.16
154Takenouchi-kosaki syndromeEnrichmentCDC422.16
155T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK32.16
156Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.16
157Congenital pulmonary airway malformationEnrichmentKRAS2.16
158Pompe disease, late-onsetEnrichmentGAA2.16
159Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.16
160Nocarh syndromeEnrichmentCDC422.16
161Syringocystadenoma papilliferumEnrichmentBRAF2.16
162GangliogliomaEnrichmentBRAF2.16
163Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.16
164Nongerminomatous germ cell tumorEnrichmentBRAF2.16
165Phace syndromeEnrichmentBRAF2.16
166Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.16
167Classic hairy cell leukemiaEnrichmentBRAF2.16
168Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.16
169Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.16
170Malignant astrocytomaEnrichmentPTPN112.16
171Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.15
172Baraitser-winter syndrome 1EnrichmentACTB2.15
17346,xy sex reversal 6EnrichmentMAP3K12.15
174Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.15
175Developmental and epileptic encephalopathy 91EnrichmentPPP3CA2.15
176Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA2.15
177Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.15
178Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.15
179Cardiomyopathy, dilated, 1wEnrichmentVCL2.15
180Becker nevus syndromeEnrichmentACTB2.15
181Dystonia-deafness syndrome 1EnrichmentACTB2.15
182Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL2.15
183Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.15
184Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.15
185Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.15
186Adenoid ameloblastomaEnrichmentCTNNB12.15
187Baraitser-winter syndromeEnrichmentACTB2.15
188Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.15
189Congenital smooth muscle hamartomaEnrichmentACTB2.15
190Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.15
191Microcystic stromal tumorEnrichmentCTNNB12.15
192Lung cancerEnrichmentBRCA1, PIK3CA2.15
193Arteriovenous malformations of the brainEnrichmentBRAF, KRAS2.12
194Primary ovarian insufficiencyEnrichmentJAK2, KDR, NOS32.10
195Cafe-au-lait spots, multipleEnrichmentNF12.10
196Costello syndromeEnrichmentHRAS2.10
197Immunodeficiency 33EnrichmentIKBKG2.10
198Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.10
199Keratosis, seborrheicEnrichmentPIK3CA2.10
200Roifman-chitayat syndromeEnrichmentPIK3CD2.10
201Angioma, tuftedEnrichmentKDR2.10
202Noonan syndrome 8EnrichmentPIK3CA2.10
203Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.10
204Immunodeficiency, common variable, 10EnrichmentNFKB22.10
205Fanconi anemia, complementation group sEnrichmentBRCA12.10
206Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.10
207Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF12.10
208Pancreatic cancer 4EnrichmentBRCA12.10
209Rela fusion-positive ependymomaEnrichmentRELA2.10
210Senior-loken syndrome 7EnrichmentAKT32.10
211Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.10
212Bardet-biedl syndrome 9EnrichmentNF12.10
213Bardet-biedl syndrome 16EnrichmentAKT32.10
214Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.10
215Inflammatory breast carcinomaEnrichmentBRCA12.10
216Peritoneum cancerEnrichmentBRCA12.10
217Bilateral breast cancerEnrichmentBRCA12.10
218Common variable immunodeficiency 12EnrichmentNFKB12.10
219Pleomorphic rhabdomyosarcomaEnrichmentNF12.10
220Tafro syndromeEnrichmentMAP2K22.10
221Wooly hair nevusEnrichmentHRAS2.10
222Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA1.98
223MicrocephalyEnrichmentACTB, ACTG1, CTNNB1, MAPK11.95
224Pompe disease, infantile-onsetEnrichmentPIK3CA1.92
225Watson syndromeEnrichmentNF11.92
226Nasopharyngeal carcinomaEnrichmentNFKBIA1.92
227Neurofibromatosis, familial spinalEnrichmentNF11.92
228Estrogen resistanceEnrichmentESR11.92
229Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF11.92
230Large congenital melanocytic nevusEnrichmentHRAS1.92
231Wieacker-wolff syndromeEnrichmentRASA11.92
232Migraine without auraEnrichmentESR11.92
233Brain cancerEnrichmentNF11.92
234SpermatocytomaEnrichmentHRAS1.92
235KeratoacanthomaEnrichmentPIK3CA1.92
236Fibromatosis, gingival, 1EnrichmentSOS11.86
237Omodysplasia 1EnrichmentGPC61.86
238Histiocytoma, angiomatoid fibrousEnrichmentCREB11.86
239Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.86
240Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS1.86
241Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB11.86
242Thrombocythemia 3EnrichmentJAK21.86
243Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.86
244Werner syndromeEnrichmentPTPN111.86
245Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.86
246PolycythemiaEnrichmentJAK21.86
247Hypereosinophilic syndromeEnrichmentJAK21.86
248Spinocerebellar ataxia 29EnrichmentITPR11.85
249Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.85
250Quebec platelet disorderEnrichmentPLAU1.85
251Deafness, autosomal dominant 20EnrichmentACTG11.85
252Baraitser-winter syndrome 2EnrichmentACTG11.85
253Childhood hepatocellular carcinomaEnrichmentCTNNB11.85
254Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.85
255TeratomaEnrichmentCTNNB11.85
256Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.80
257Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA11.80
258Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.80
259Immunodeficiency, common variable, 1EnrichmentNFKB21.80
260CholangiocarcinomaEnrichmentBRCA11.80
261Congenital generalized lipodystrophyEnrichmentFOS1.80
262Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.80
263Hereditary ataxiaEnrichmentPRKCG1.80
264Cerebrovascular diseaseEnrichmentPIK3CA1.80
265Embryonal rhabdomyosarcomaEnrichmentNF11.80
266Pilocytic astrocytomaEnrichmentNF11.80
267Epidermolytic nevusEnrichmentHRAS1.80
268Familial cerebral cavernous malformationsEnrichmentPIK3CA1.80
269Cerebral malariaEnrichmentICAM11.80
270Middle aortic syndromeEnrichmentNF11.80
271Severe covid-19EnrichmentITGAV, JAK31.77
272Differentiated thyroid carcinomaEnrichmentBRAF, KRAS1.77
273Non-immune hydrops fetalisEnrichmentKRAS, PTPN111.71
274Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.70
275Rhabdomyosarcoma 2EnrichmentNF11.70
276Breast-ovarian cancer, familial 2EnrichmentBRCA11.70
277Hereditary breast ovarian cancer syndromeEnrichmentBRCA1, NF11.69
278Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.69
279Ataxia-telangiectasiaEnrichmentBRAF1.69
280Bleeding disorder, platelet-type, 16EnrichmentITGB31.69
281Glycogen storage disease ivEnrichmentGAA1.69
282Polycythemia veraEnrichmentJAK21.69
283Simpson-golabi-behmel syndrome, type 1EnrichmentGPC31.69
284Nuchal bleb, familialEnrichmentSOS11.69
285Tethered spinal cord syndromeEnrichmentBRAF1.69
286Hyper ige syndromeEnrichmentSTAT31.69
287Bleeding disorder, platelet-type, 24EnrichmentITGB31.69
288Melanoma of soft tissueEnrichmentCREB11.69
289Tricuspid valve insufficiencyEnrichmentPTPN111.69
290Desmoid disease, hereditaryEnrichmentCTNNB11.68
291Gillespie syndromeEnrichmentITPR11.68
292Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.68
293Anus, imperforateEnrichmentCTNNB11.68
294Exudative vitreoretinopathy 7EnrichmentCTNNB11.68
295Desmoid tumorEnrichmentCTNNB11.68
296Cowden syndrome 1EnrichmentPIK3CA1.63
297Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.63
298Basal cell carcinoma 1EnrichmentRASA11.63
299Lung squamous cell carcinomaEnrichmentPIK3CA1.63
300CakutEnrichmentACTG1, TRAP11.62
301Erythrocytosis, familial, 1EnrichmentJAK21.56
302Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.56
303Glycogen storage disease iaEnrichmentGAA1.56
304Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.56
305Budd-chiari syndromeEnrichmentJAK21.56
306Lung sarcomatoid carcinomaEnrichmentKRAS1.56
307Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS1.56
308CraniopharyngiomaEnrichmentBRAF1.56
309Newborn respiratory distress syndromeEnrichmentBRAF1.56
310Adenosine deaminase deficiencyEnrichmentJAK31.56
311Knobloch syndromeEnrichmentPAK21.56
312Gingival fibromatosisEnrichmentSOS11.56
313Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.56
314Pseudomyogenic hemangioendotheliomaEnrichmentFOSB1.56
315Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.56
316Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.56
317MegacolonEnrichmentAKT31.56
318Follicular thyroid carcinomaEnrichmentHRAS1.56
319Overgrowth syndromeEnrichmentPIK3R11.56
320PilomatrixomaEnrichmentCTNNB11.55
321Spinocerebellar ataxia 15EnrichmentITPR11.55
322Aminoacylase 1 deficiencyEnrichmentACTB1.55
323Alazami syndromeEnrichmentCTNNB11.55
324Leukemia, acute myeloidEnrichmentJAK2, KRAS1.51
325Ewing sarcomaEnrichmentNF11.50
326Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB11.47
327Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.47
328Knobloch syndrome 1EnrichmentPAK21.47
329Glanzmann thrombasthenia 2EnrichmentITGB31.47
330Pre-eclampsiaEnrichmentNOS31.47
331LymphomaEnrichmentPTPN111.47
332Myeloproliferative neoplasmEnrichmentJAK21.47
333Exudative vitreoretinopathy 1EnrichmentCTNNB11.46
334Coloboma of choroid and retinaEnrichmentACTG11.46
335Neurofibromatosis, type iEnrichmentNF11.45
336Inflammatory bowel disease 1EnrichmentPRKCQ1.45
337Coronary heart disease 5EnrichmentIKBKG1.45
338Leukemia, acute lymphoblastic 3EnrichmentNF11.45
339Type 2 diabetes mellitusEnrichmentAKT2, TCF7L21.45
340Ciliary dyskinesia, primary, 3EnrichmentNFKB11.41
341PolymicrogyriaEnrichmentAKT31.41
342Wilms tumor 5EnrichmentBRAF1.39
343Patent ductus arteriosusEnrichmentPTPN111.39
344Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB31.39
345Weyers acrofacial dysostosisEnrichmentCTNNB11.38
346Congenital anomalies of kidney and urinary tract 1EnrichmentTRAP11.38
347Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.38
348Adrenocortical carcinomaEnrichmentCTNNB11.38
349Migraine with or without aura 1EnrichmentESR11.37
350Uterine corpus cancerEnrichmentBRCA11.37
351Glanzmann thrombasthenia 1EnrichmentITGB31.32
352Leukemia, chronic myeloidEnrichmentKRAS1.32
353Essential thrombocythemiaEnrichmentJAK21.32
354Breast-ovarian cancer, familial 1EnrichmentBRCA11.30
355Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.30
356Familial isolated dilated cardiomyopathyEnrichmentRAF1, VCL1.27
357Lymphoma, non-hodgkin, familialEnrichmentBRAF1.27
358Permanent neonatal diabetes mellitusEnrichmentSTAT31.27
359OsteoporosisEnrichmentSRC1.26
360PheochromocytomaEnrichmentNF11.26
361Periventricular nodular heterotopiaEnrichmentBRCA11.26
362Exudative vitreoretinopathyEnrichmentCTNNB11.26
363Lynch syndromeEnrichmentPIK3CA1.24
364Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.22
365Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.22
366Primary hyperaldosteronismEnrichmentBRAF1.22
367Ventricular septal defectEnrichmentBRAF1.22
368GliosarcomaEnrichmentNFKBIA1.21
369Giant cell glioblastomaEnrichmentNFKBIA1.18
370MelanomaEnrichmentBRAF1.17
371Autosomal dominant macrothrombocytopeniaEnrichmentITGB31.17
372Cat eye syndromeEnrichmentACTG11.16
373Heart, malformation ofEnrichmentMAPK11.16
374Autism spectrum disorderEnrichmentMAP2K1, NF11.16
375Pectus excavatumEnrichmentPTPN111.13
376Glycogen storage diseaseEnrichmentGAA1.13
37746,xy complete gonadal dysgenesisEnrichmentMAP3K11.12
378EpicanthusEnrichmentPTPN111.10
379Congenital long qt syndromeEnrichmentPTPN111.10
380Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentNF11.09
381Myocardial infarctionEnrichmentESR11.08
382Skin diseaseEnrichmentNF11.08
383Aortic valve disease 1EnrichmentSOS11.06
384Acute promyelocytic leukemiaEnrichmentSTAT31.06
385Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.04
386Multiple sclerosisEnrichmentITPR11.02
387MedulloblastomaEnrichmentCTNNB11.02
388Pancreatic cancerEnrichmentBRCA11.02
389Inherited cancer-predisposing syndromeEnrichmentBRCA1, NF11.01
390Tetralogy of fallotEnrichmentKDR1.01
391Hydrops fetalis, nonimmuneEnrichmentHRAS1.01
392Anterior segment dysgenesisEnrichmentITPR11.00
393Creatine phosphokinase, elevated serumEnrichmentGAA0.98
394Isolated elevated serum creatine phosphokinase levelsEnrichmentGAA0.98
395Dilated cardiomyopathyEnrichmentBRAF, RAF10.97
396Hypertension, essentialEnrichmentNOS30.95
397Melanoma, cutaneous malignant 1EnrichmentBRAF0.95
398Dandy-walker syndromeEnrichmentBRAF0.95
399Polycystic liver diseaseEnrichmentCTNNB10.94
400Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.94
401Patent foramen ovaleEnrichmentPTPN110.93
402Human immunodeficiency virus type 1EnrichmentCCL20.92
403Familial hypertrophic cardiomyopathyEnrichmentRAF10.91
404Severe combined immunodeficiencyEnrichmentIKBKB0.91
405Fanconi anemia, complementation group aEnrichmentBRCA10.88
406Left ventricular noncompactionEnrichmentRAF10.88
407LissencephalyEnrichmentACTG10.86
408HepatoblastomaEnrichmentCTNNB10.86
409ScoliosisEnrichmentPTPN110.81
410StrabismusEnrichmentPTPN110.77
411HypertelorismEnrichmentPIK3CA0.73
412Long qt syndrome 1EnrichmentPTPN110.72
413Non-syndromic genetic deafnessEnrichmentACTG10.65
414MyopathyEnrichmentGAA0.61
415Charcot-marie-tooth diseaseEnrichmentHSPB10.60
416Nonsyndromic hearing lossEnrichmentACTG10.59
417Hypertrophic cardiomyopathyEnrichmentPTPN110.59
418Body mass index quantitative trait locus 11EnrichmentSDC30.53
419Autosomal dominant non-syndromic intellectual disabilityEnrichmentPPP3CA0.52
420Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.51
421Spastic ataxiaEnrichmentITPR10.50
422Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.49
423Undetermined early-onset epileptic encephalopathyEnrichmentPPP3CA0.48
424AutismEnrichmentTCF7L20.40
425Rare genetic deafnessEnrichmentGAA0.37
426Congenital nervous system abnormalityEnrichmentCTNNB10.28
427Nervous system diseaseEnrichmentCTNNB10.28
428Complex neurodevelopmental disorderEnrichmentTCF7L20.23

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