VEGF Pathway (Qiagen)

Pathway network for the VEGF Pathway (Qiagen) SuperPath

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

Pathways in the VEGF Pathway (Qiagen) SuperPath

#NameSourceGenes
1CCKBR-Gastrin Stimulated SignalingQIAGEN
2VEGF PathwayQIAGEN
3VEGF Family Ligands and Receptor InteractionsQIAGEN
4Development VEGF-family signalingGeneGo (Thomson Reuters)
5VEGF and VEGFR signaling networkPubChem
6Neurophilin interactions with VEGF and VEGFRReactome

Gene overlap in member pathways for VEGF Pathway (Qiagen) SuperPath

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

Disorders associated with VEGF Pathway (Qiagen) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS216.00
2Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS116.00
3Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS211.83
4Lung non-small cell carcinomaEnrichmentEGFR, HRAS, KRAS, MAP2K1, NRAS8.70
5Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS18.21
6Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.90
7Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.70
8Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K1, MAP2K26.70
9Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K1, MAP2K26.70
10Nevus, epidermalEnrichmentHRAS, KRAS, NRAS5.76
11Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA5.58
12Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF15.56
13Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA5.42
14Non-immune hydrops fetalisEnrichmentACTA1, FLT4, HRAS, KRAS5.29
15Hemangioma, capillary infantileEnrichmentFLT4, KDR5.14
16Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS4.97
17Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.86
18Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.86
19Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.51
20Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.51
21Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.51
22Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS4.38
23Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.38
24Lung cancer susceptibility 3EnrichmentACTA2, EGFR, KRAS4.25
25Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.21
26Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS4.08
27Breast cancerEnrichmentAKT1, JUN, PIK3CA, SHC14.00
28HemimegalencephalyEnrichmentAKT3, PIK3CA3.99
29Hydrops fetalis, nonimmuneEnrichmentACTA1, FLT4, HRAS3.91
30Pre-eclampsiaEnrichmentFLT1, NOS33.86
31Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.82
32Tetralogy of fallotEnrichmentFLT4, KDR3.80
33Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS3.77
34Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA3.67
35Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS3.54
36Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.54
37Pilomyxoid astrocytomaEnrichmentKRAS, RAF13.54
38Follicular thyroid carcinomaEnrichmentHRAS, NRAS3.54
39Tufted angioma of skinEnrichmentKDR3.53
40Cowden syndromeEnrichmentAKT1, PIK3CA3.44
41Lung squamous cell carcinomaEnrichmentEGFR, KRAS3.35
42Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.34
43Bladder cancerEnrichmentEGFR, HRAS, KRAS3.27
44Angioma, tuftedEnrichmentKDR3.23
45Stroke, ischemicEnrichmentNOS3, PRKCH3.21
46Colorectal cancerEnrichmentAKT1, NRAS, PIK3R1, SRC3.18
47MeningiomaEnrichmentAKT1, PIK3CA3.18
48Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.18
49Lung cancerEnrichmentACTA2, EGFR, KRAS3.14
50Hereditary lymphedema idEnrichmentVEGFC3.13
51Lymphatic malformation 4EnrichmentVEGFC3.13
52Microvascular complications of diabetes 1EnrichmentVEGFA3.13
53Congenital heart defects, multiple types, 7EnrichmentFLT43.13
54Congenital primary lymphedema of gordonEnrichmentVEGFC3.13
55Lymphatic malformation 1EnrichmentFLT42.83
56Intracranial hypertension, idiopathicEnrichmentFLT42.83
57Hereditary lymphedema iEnrichmentFLT42.83
58Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.49
59MacrodactylyEnrichmentPIK3CA2.49
60Proteus syndromeEnrichmentAKT12.49
61Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.49
62Hydrocephalus due to congenital stenosis of aqueduct of sylviusEnrichmentL1CAM2.49
63Noonan syndrome 5EnrichmentRAF12.49
64Noonan syndrome 4EnrichmentSOS12.49
65Melorheostosis, isolatedEnrichmentMAP2K12.49
66Megalencephaly, autosomal dominantEnrichmentPIK3CA2.49
67Cardiomyopathy, dilated, 1nnEnrichmentRAF12.49
68Cowden syndrome 5EnrichmentPIK3CA2.49
69Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.49
70Noonan syndrome 9EnrichmentSOS22.49
71Cerebral cavernous malformations 4EnrichmentPIK3CA2.49
72Noonan syndrome 13EnrichmentMAPK12.49
73Corpus callosum, partial agenesis of, x-linkedEnrichmentL1CAM2.49
74Hydrocephalus, congenital, x-linkedEnrichmentL1CAM2.49
75Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.49
76Short syndromeEnrichmentPIK3R12.49
77Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.49
78Masa syndromeEnrichmentL1CAM2.49
79Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.49
80Hemifacial myohyperplasiaEnrichmentPIK3CA2.49
81Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.49
82MelorheostosisEnrichmentMAP2K12.49
83Leopard syndrome 2EnrichmentRAF12.49
84Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.49
85Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.49
86Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.49
87Cowden syndrome 6EnrichmentAKT12.49
88Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.49
89Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.49
90Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.49
91TrigonitisEnrichmentRAF12.49
92Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.49
93HypospadiasEnrichmentPIK3CA2.49
94Capillary hemangiomaEnrichmentAKT32.49
95Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.49
96Rare venous malformationEnrichmentPIK3CA2.49
97Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.49
98Diaphragmatic eventrationEnrichmentPIK3CA2.49
99Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.49
100X-linked complicated spastic paraplegia type 1EnrichmentL1CAM2.49
101Rare combined vascular malformationEnrichmentPIK3CA2.49
102Cavernous lymphangiomaEnrichmentPIK3CA2.49
103Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.49
104Phakomatosis pigmentokeratoticaEnrichmentHRAS2.49
105Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.49
106Eccrine angiomatous hamartomaEnrichmentPIK3CA2.49
107Macrodactyly of toeEnrichmentPIK3CA2.49
108Akt2-related familial partial lipodystrophyEnrichmentAKT22.49
109Baraitser-winter syndrome 1EnrichmentACTB2.42
110Oculoectodermal syndromeEnrichmentKRAS2.42
111Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.42
112Melanosis, neurocutaneousEnrichmentNRAS2.42
113Myopathy, scapulohumeroperonealEnrichmentACTA12.42
114Noonan syndrome 6EnrichmentNRAS2.42
115Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.42
116Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.42
117Noonan syndrome 11EnrichmentMRAS2.42
118Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.42
119Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.42
120Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.42
121Spinocerebellar ataxia 14EnrichmentPRKCG2.42
122Becker nevus syndromeEnrichmentACTB2.42
123Dystonia-deafness syndrome 1EnrichmentACTB2.42
124Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.42
125Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.42
126Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.42
127Autosomal dominant familial visceral neuropathyEnrichmentACTG22.42
128Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.42
129Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.42
130Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.42
131Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.42
132Baraitser-winter syndromeEnrichmentACTB2.42
133Congenital pulmonary airway malformationEnrichmentKRAS2.42
134Zebra body myopathyEnrichmentACTA12.42
135Congenital smooth muscle hamartomaEnrichmentACTB2.42
136Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.42
137Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.42
138Actin-accumulation myopathyEnrichmentACTA12.42
139Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.42
140Myopathic intestinal pseudoobstructionEnrichmentACTG22.42
141Neurocutaneous melanocytosisEnrichmentNRAS2.42
142Actg2 visceral myopathyEnrichmentACTG22.42
143Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB12.34
144Macular dystrophy, patterned, 3EnrichmentMAPKAPK32.34
145Thrombocytopenia 6EnrichmentSRC2.34
146Arteriovenous malformations of the brainEnrichmentEGFR, KRAS2.31
147Hypomagnesemia 4, renalEnrichmentEGF2.26
148Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.26
149Auriculocondylar syndrome 2aEnrichmentPLCB42.26
150Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.26
151Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A2.26
152Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.26
153Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.26
154Immunodeficiency 129EnrichmentRHOH2.26
155Auriculocondylar syndrome 2bEnrichmentPLCB42.26
156T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH2.26
1575q14.3 microdeletion syndromeEnrichmentMEF2C2.26
158Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.26
159Mef2c-related disorderEnrichmentMEF2C2.26
160Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.26
161Ovarian cancerEnrichmentAKT1, KRAS, RRAS22.19
162Spinocerebellar ataxia 29EnrichmentITPR12.19
163Fibromatosis, gingival, 1EnrichmentSOS12.19
164Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN12.19
165Costello syndromeEnrichmentHRAS2.19
166Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN12.19
167Pulmonic stenosisEnrichmentSOS12.19
168Keratosis, seborrheicEnrichmentPIK3CA2.19
169Roifman-chitayat syndromeEnrichmentPIK3CD2.19
170Noonan syndrome 8EnrichmentPIK3CA2.19
171Senior-loken syndrome 7EnrichmentAKT32.19
172Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.19
173Immune system diseaseEnrichmentPIK3CD2.19
174Bardet-biedl syndrome 16EnrichmentAKT32.19
175Tafro syndromeEnrichmentMAP2K22.19
176Wooly hair nevusEnrichmentHRAS2.19
177Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.12
178Aortic aneurysm, familial thoracic 2EnrichmentACTA22.12
179Deafness, autosomal dominant 20EnrichmentACTG12.12
180Smooth muscle dysfunction syndromeEnrichmentACTA22.12
181Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.12
182Aortic aneurysm, familial thoracic 6EnrichmentACTA22.12
183Baraitser-winter syndrome 2EnrichmentACTG12.12
184Moyamoya disease 5EnrichmentACTA22.12
185Noonan syndrome 12EnrichmentRRAS22.12
186Intestinal obstructionEnrichmentACTG22.12
187Hereditary breast carcinomaEnrichmentAKT1, PIK3CA2.05
188Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB12.04
189Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB32.01
190Bleeding disorder, platelet-type, 16EnrichmentITGB32.01
191Gillespie syndromeEnrichmentITPR12.01
192Pompe disease, infantile-onsetEnrichmentPIK3CA2.01
193Glomerulopathy with fibronectin deposits 2EnrichmentFN12.01
194Nuchal bleb, familialEnrichmentSOS12.01
195SpermatocytomaEnrichmentHRAS2.01
196Bleeding disorder, platelet-type, 24EnrichmentITGB32.01
197KeratoacanthomaEnrichmentPIK3CA2.01
198Leukemia, acute myeloidEnrichmentKRAS, NRAS2.01
199Scoliosis, isolated 1EnrichmentMAPK71.96
200Ocular melanomaEnrichmentPLCB41.96
201Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.96
202MicrocephalyEnrichmentACTB, ACTG1, MAPK11.96
203Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.89
204Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.89
205Spinocerebellar ataxia 15EnrichmentITPR11.89
206Congenital generalized lipodystrophyEnrichmentFOS1.89
207Cerebrovascular diseaseEnrichmentPIK3CA1.89
208Noonan syndrome with multiple lentiginesEnrichmentRAF11.89
209Epidermolytic nevusEnrichmentHRAS1.89
210Familial cerebral cavernous malformationsEnrichmentPIK3CA1.89
211Gingival fibromatosisEnrichmentSOS11.89
212Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.89
213Bacteremia 2EnrichmentMAPKAPK31.86
214Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.83
215Nemaline myopathy 2EnrichmentACTA11.83
216Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.83
217Autoimmune lymphoproliferative syndromeEnrichmentACTA21.83
218Aminoacylase 1 deficiencyEnrichmentACTB1.83
219Lung sarcomatoid carcinomaEnrichmentKRAS1.83
220Hereditary ataxiaEnrichmentPRKCG1.83
221Pilocytic astrocytomaEnrichmentKRAS1.83
222Intermediate nemaline myopathyEnrichmentACTA11.83
223Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.83
224Capillary malformations, congenitalEnrichmentPIK3CA1.79
225Glanzmann thrombasthenia 2EnrichmentITGB31.79
226Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentL1CAM1.79
227Histiocytoid hemangiomaEnrichmentFOS1.79
228Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.78
229Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.78
230Primary ovarian insufficiencyEnrichmentKDR1.76
231TuberculosisEnrichmentMAPKAPK31.74
232Alzheimer disease 2EnrichmentNOS31.73
233Visceral myopathy 1EnrichmentACTG21.73
234Congenital myopathy 3 with rigid spineEnrichmentACTA11.73
235Coloboma of choroid and retinaEnrichmentACTG11.73
236Severe congenital nemaline myopathyEnrichmentACTA11.73
237Myeloma, multipleEnrichmentKRAS, PIK3R21.73
238Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.71
239Cowden syndrome 1EnrichmentPIK3CA1.71
240Hemihyperplasia, isolatedEnrichmentPIK3CA1.71
241Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.71
242Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB31.71
243Auriculocondylar syndrome 1EnrichmentPLCB41.66
244Developmental and epileptic encephalopathy 12EnrichmentPLCB11.66
245Moyamoya disease 1EnrichmentACTA21.65
246Intestinal pseudo-obstructionEnrichmentACTG21.65
247Typical nemaline myopathyEnrichmentACTA11.65
248Glanzmann thrombasthenia 1EnrichmentITGB31.65
249Gallbladder cancerEnrichmentPIK3CA1.65
250MegacolonEnrichmentAKT31.65
251Overgrowth syndromeEnrichmentPIK3R11.65
252Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB11.64
253Childhood-onset nemaline myopathyEnrichmentACTA11.58
254Adult hepatocellular carcinomaEnrichmentPIK3CA1.54
255Hydrops fetalisEnrichmentL1CAM1.54
256MyelofibrosisEnrichmentSRC1.50
257PolymicrogyriaEnrichmentAKT31.50
258Autosomal dominant macrothrombocytopeniaEnrichmentITGB31.50
259Melanoma, uvealEnrichmentPLCB41.49
260Inflammatory bowel disease 1EnrichmentPRKCQ1.48
261Specific learning disabilityEnrichmentMAPK11.45
262Dilated cardiomyopathyEnrichmentACTA1, RAF11.44
263Cat eye syndromeEnrichmentACTG11.43
264Nemaline myopathyEnrichmentACTA11.43
265Hereditary breast ovarian cancer syndromeEnrichmentBCAR1, KRAS1.43
266Squamous cell carcinoma, head and neckEnrichmentEGFR1.42
267Congenital long qt syndromeEnrichmentITPR31.42
268Aortic valve disease 1EnrichmentSOS11.38
269Neural tube defectsEnrichmentITGB11.38
270Nk-cell enteropathyEnrichmentPIK3CB1.38
271Lennox-gastaut syndromeEnrichmentMAPK101.36
272Multiple sclerosisEnrichmentITPR11.35
27346,xy partial gonadal dysgenesisEnrichmentSOS11.35
274Anterior segment dysgenesisEnrichmentITPR11.32
275Lynch syndromeEnrichmentPIK3CA1.32
276Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.32
277Protein-deficiency anemiaEnrichmentNRAS1.32
278Developmental and epileptic encephalopathy 14EnrichmentPLCB11.31
279RhabdomyosarcomaEnrichmentHRAS1.30
280Congenital myopathy 4a, autosomal dominantEnrichmentACTA11.26
281Heart, malformation ofEnrichmentMAPK11.25
282Alzheimer disease, familial, 1EnrichmentNOS31.21
283Hypertension, essentialEnrichmentNOS31.21
284OsteoporosisEnrichmentSRC1.21
285Neuromuscular diseaseEnrichmentACTA11.18
286Endometrial cancerEnrichmentPIK3CA1.18
287Hepatocellular carcinomaEnrichmentPIK3CA1.16
288Myocardial infarctionEnrichmentITGB31.16
289Congenital myopathyEnrichmentACTA11.16
290Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.12
291LissencephalyEnrichmentACTG11.12
292Centronuclear myopathyEnrichmentACTA11.12
293GliosarcomaEnrichmentEGFR1.07
294Pancreatic cancerEnrichmentKRAS1.05
295Giant cell glioblastomaEnrichmentEGFR1.05
296Prostate cancerEnrichmentPIK3CA1.05
297Severe covid-19EnrichmentITGAV1.05
298Long qt syndrome 1EnrichmentITPR31.03
299MalariaEnrichmentMAPKAPK31.00
300Familial hypertrophic cardiomyopathyEnrichmentRAF10.99
301Left ventricular noncompactionEnrichmentRAF10.97
302Connective tissue diseaseEnrichmentACTA20.94
303CakutEnrichmentACTG10.92
304Autism spectrum disorderEnrichmentMAP2K1, MEF2C0.91
305Non-syndromic genetic deafnessEnrichmentACTG10.90
306Type 2 diabetes mellitusEnrichmentAKT20.89
307Fetal akinesia deformation sequence 1EnrichmentACTA10.89
308Gastric cancerEnrichmentPIK3CA0.88
309Nephrotic syndromeEnrichmentFN10.88
310MyopathyEnrichmentACTA10.85
311ThrombocytopeniaEnrichmentITGB30.84
312Distal arthrogryposisEnrichmentACTA10.83
313Nonsyndromic hearing lossEnrichmentACTG10.83
314Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA20.82
315HypertelorismEnrichmentPIK3CA0.81
316Spastic ataxiaEnrichmentITPR10.80
317Familial isolated dilated cardiomyopathyEnrichmentRAF10.80
318Charcot-marie-tooth diseaseEnrichmentHSPB10.77
319Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.75
320Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.69
321Centralopathic epilepsyEnrichmentPLCB10.67
322West syndromeEnrichmentPLCB10.66
323Rare genetic deafnessEnrichmentACTG10.59
324Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.56
325Inherited cancer-predisposing syndromeEnrichmentEGFR0.28

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