Response of endothelial cells to shear stress

Pathway network for the Response of endothelial cells to shear stress SuperPath

Sources:
  • Reactome

Pathways in the Response of endothelial cells to shear stress SuperPath

#NameSourceGenes
1Response of endothelial cells to shear stressReactome
2Cellular responses to mechanical stimuliReactome
3High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cellsReactome
4Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cellsReactome
5Mechanical load activates signaling by PIEZO1 and integrins in osteocytesReactome

Gene overlap in member pathways for Response of endothelial cells to shear stress SuperPath

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

Disorders associated with Response of endothelial cells to shear stress SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Capillary malformations, congenitalEnrichmentGNA11, GNAQ, PIK3CA5.87
2Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA5.33
3Phakomatosis cesioflammeaEnrichmentGNA11, GNAQ5.33
4Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM35.12
5Anastomosing haemangiomaEnrichmentGNA11, GNAQ4.85
6Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A4.57
7AcrodysostosisEnrichmentPDE4D, PRKAR1A4.32
8Melanoma, uvealEnrichmentGNA11, GNAQ4.15
9Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3CA4.09
10Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R23.79
11HemimegalencephalyEnrichmentMTOR, PIK3CA3.57
12Klippel-trenaunay-weber syndromeEnrichmentGNAQ, PIK3CA3.40
13Hemangioma, capillary infantileEnrichmentFLT4, KDR3.40
14Adrenocortical carcinomaEnrichmentCTNNB1, PRKAR1A3.40
15Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.40
16Brugada syndromeEnrichmentCACNA2D1, CACNB23.33
17Long qt syndrome 1EnrichmentCALM1, CALM2, CALM33.30
18Non-immune hydrops fetalisEnrichmentCALCRL, FLT4, PIEZO13.25
19Gallbladder cancerEnrichmentCTNNB1, PIK3CA3.25
20Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB3.02
21Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA3.02
22Cowden syndromeEnrichmentAKT1, PIK3CA3.02
23Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA12.90
24Proteus syndromeEnrichmentAKT12.90
25Hypoplastic left heart syndrome 1EnrichmentGJA12.90
26Brugada syndrome 4EnrichmentCACNB22.90
27Oculodentodigital dysplasiaEnrichmentGJA12.90
28Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA12.90
29Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA12.90
30Epilepsy, childhood absence 6EnrichmentCACNA1H2.90
31Cowden syndrome 6EnrichmentAKT12.90
32Developmental and epileptic encephalopathy 110EnrichmentCACNA2D12.90
33Blood group, erEnrichmentPIEZO12.90
34Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA12.90
35Hyperaldosteronism, familial, type ivEnrichmentCACNA1H2.90
36Conn's syndromeEnrichmentCACNA1H2.90
37Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.90
38Diffuse lymphatic malformationEnrichmentPIEZO12.90
39MeningiomaEnrichmentAKT1, PIK3CA2.76
40Primary hyperaldosteronismEnrichmentCACNA1H, GNAS2.69
41Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.66
42Incontinentia pigmentiEnrichmentIKBKG2.66
43Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.66
44Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP12.66
45Fetal encasement syndromeEnrichmentCHUK2.66
46Sturge-weber syndromeEnrichmentGNAQ2.66
47Immunodeficiency 15bEnrichmentIKBKB2.66
48Immunodeficiency 15aEnrichmentIKBKB2.66
49Pulmonary hypertension, primary, 6EnrichmentCAPNS12.66
50Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.66
51Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP12.66
52Houge-janssens syndrome 2EnrichmentPPP2R1A2.66
53Cardiomyopathy, dilated, 1wEnrichmentVCL2.66
54Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL2.66
55Immunodeficiency 31aEnrichmentSTAT12.66
56Hypocalcemia, autosomal dominant 2EnrichmentGNA112.66
57Acrodysostosis 2 with or without hormone resistanceEnrichmentPDE4D2.66
58Immunodeficiency 31bEnrichmentSTAT12.66
59Bartsocas-papas syndrome 2EnrichmentCHUK2.66
60Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.66
61Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.66
62Phakomatosis cesiomarmorataEnrichmentGNA112.66
63Hallermann-streiff syndromeEnrichmentGJA12.60
64Schwartz-jampel syndrome, type 1EnrichmentHSPG22.60
65Syndactyly, type iiiEnrichmentGJA12.60
66Syndactyly, type vEnrichmentGJA12.60
67Oocyte/zygote/embryo maturation arrest 7EnrichmentPANX12.60
68Craniometaphyseal dysplasiaEnrichmentGJA12.60
69Lymphatic malformation 6EnrichmentPIEZO12.60
70Breast cancerEnrichmentAKT1, CACNA2D1, GNG3, PIK3CA2.58
71Lip and oral cavity carcinomaEnrichmentABL1, PIK3CA2.52
72Hypertension, essentialEnrichmentGNB3, NOS32.46
73Primary ovarian insufficiencyEnrichmentKDR, NOS3, RICTOR2.44
74Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB32.43
75Bleeding disorder, platelet-type, 16EnrichmentITGB32.43
76Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG22.43
77Bleeding disorder, platelet-type, 24EnrichmentITGB32.43
78Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN12.35
79Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN12.35
80Cutis marmorata telangiectatica congenitaEnrichmentGNA112.35
81Immunodeficiency 33EnrichmentIKBKG2.35
82Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.35
83Chromosome 5q12 deletion syndromeEnrichmentPDE4D2.35
84Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.35
85Immunodeficiency 31cEnrichmentSTAT12.35
86Congenital heart defects and skeletal malformations syndromeEnrichmentABL12.35
87Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.35
88Rela fusion-positive ependymomaEnrichmentRELA2.35
89Autosomal dominant hypocalcemiaEnrichmentGNA112.35
90Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.35
91Houge-janssens syndrome 3EnrichmentPPP2CA2.35
92Common variable immunodeficiency 12EnrichmentNFKB12.35
93Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edemaEnrichmentPIEZO12.30
94Pediatric systemic lupus erythematosusEnrichmentSPP12.30
95Metatropic dysplasiaEnrichmentTRPV42.28
96MacrodactylyEnrichmentPIK3CA2.28
97Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.28
98Parastremmatic dwarfismEnrichmentTRPV42.28
99Spondylometaphyseal dysplasia, kozlowski typeEnrichmentTRPV42.28
100Neuronopathy, distal hereditary motor, autosomal dominant 8EnrichmentTRPV42.28
101Pseudohypoparathyroidism, type icEnrichmentGNAS2.28
102Carney complex, type 1EnrichmentPRKAR1A2.28
103Megalencephaly, autosomal dominantEnrichmentPIK3CA2.28
104Osseous heteroplasia, progressiveEnrichmentGNAS2.28
105Brachyolmia type 3EnrichmentTRPV42.28
106Sodium serum level quantitative trait locus 1EnrichmentTRPV42.28
107Cowden syndrome 5EnrichmentPIK3CA2.28
108Spondyloepiphyseal dysplasia, maroteaux typeEnrichmentTRPV42.28
109Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY52.28
110Scapuloperoneal spinal muscular atrophyEnrichmentTRPV42.28
111Deafness, autosomal recessive 44EnrichmentADCY12.28
112Avascular necrosis of femoral head, primary, 2EnrichmentTRPV42.28
113Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.28
114Cerebral cavernous malformations 4EnrichmentPIK3CA2.28
115Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.28
116Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY52.28
117Pituitary adenoma 3, multiple typesEnrichmentGNAS2.28
118Winchester syndromeEnrichmentMMP142.28
119Cardioacrofacial dysplasia 2EnrichmentPRKACB2.28
120Myxoma, intracardiacEnrichmentPRKAR1A2.28
121Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY52.28
122Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.28
123Hemifacial myohyperplasiaEnrichmentPIK3CA2.28
124Skeletal dysplasia and progressive central nervous system degeneration, lethalEnrichmentTRPV42.28
125Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.28
126Digital arthropathy-brachydactyly, familialEnrichmentTRPV42.28
127Long qt syndrome 16EnrichmentCALM32.28
128Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.28
129Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.28
130Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.28
131Disorders of gnas inactivationEnrichmentGNAS2.28
132Congenital heart defects, multiple types, 7EnrichmentFLT42.28
133Cardioacrofacial dysplasia 1EnrichmentPRKACA2.28
134Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.28
135Sick sinus syndrome 4EnrichmentGNB22.28
136Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.28
137Tufted angioma of skinEnrichmentKDR2.28
138Adenoid ameloblastomaEnrichmentCTNNB12.28
139Long qt syndrome 15EnrichmentCALM22.28
140HypospadiasEnrichmentPIK3CA2.28
141Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.28
142Rare venous malformationEnrichmentPIK3CA2.28
143Diaphragmatic eventrationEnrichmentPIK3CA2.28
144Capillary leak syndromeEnrichmentTLN12.28
145Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.28
146Rare combined vascular malformationEnrichmentPIK3CA2.28
147Cavernous lymphangiomaEnrichmentPIK3CA2.28
148Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.28
149Monostotic fibrous dysplasiaEnrichmentGNAS2.28
150Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.28
151Mazabraud syndromeEnrichmentGNAS2.28
152Eccrine angiomatous hamartomaEnrichmentPIK3CA2.28
153Macrodactyly of toeEnrichmentPIK3CA2.28
154Microcystic stromal tumorEnrichmentCTNNB12.28
155Trpv4-related bone disorderEnrichmentTRPV42.28
156Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA2.23
157Glanzmann thrombasthenia 2EnrichmentITGB32.20
158Cardiac arrestEnrichmentCACNA2D12.20
159Cleft upper lipEnrichmentGJA12.20
160Female infertility due to oocyte meiotic arrestEnrichmentPANX12.20
161Congenital short qt syndromeEnrichmentCACNA2D12.20
162Glomerulopathy with fibronectin deposits 2EnrichmentFN12.18
163Nasopharyngeal carcinomaEnrichmentNFKBIA2.18
164T-cell acute lymphoblastic leukemiaEnrichmentABL12.18
165Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB32.13
166Childhood absence epilepsyEnrichmentCACNA1H2.13
167Tetralogy of fallotEnrichmentFLT4, KDR2.09
168Hydrops fetalis, nonimmuneEnrichmentFLT4, PIEZO12.09
169Brugada syndrome 1EnrichmentCACNA2D12.06
170Glanzmann thrombasthenia 1EnrichmentITGB32.06
171Malignant epithelioid hemangioendotheliomaEnrichmentYAP12.05
172Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL12.05
173Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA12.00
174Hypoplastic left heart syndromeEnrichmentGJA12.00
175Bladder cancerEnrichmentCTNNB1, PIK3CA2.00
176Lymphatic malformation 1EnrichmentFLT41.98
177Pseudohypoparathyroidism, type iaEnrichmentGNAS1.98
178Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.98
179Intracranial hypertension, idiopathicEnrichmentFLT41.98
180Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.98
181PseudopseudohypoparathyroidismEnrichmentGNAS1.98
182Hereditary motor and sensory neuropathy, type iicEnrichmentTRPV41.98
183Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.98
184Keratosis, seborrheicEnrichmentPIK3CA1.98
185Roifman-chitayat syndromeEnrichmentPIK3CD1.98
186Lethal congenital contracture syndrome 8EnrichmentADCY61.98
187Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.98
188Angioma, tuftedEnrichmentKDR1.98
189Night blindness, congenital stationary, type 1hEnrichmentGNB31.98
190Noonan syndrome 8EnrichmentPIK3CA1.98
191Long qt syndrome 14EnrichmentCALM11.98
192Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.98
193Cebalid syndromeEnrichmentMTOR1.98
194Usher syndrome, type ivEnrichmentPRKAR1A1.98
195Childhood hepatocellular carcinomaEnrichmentCTNNB11.98
196Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.98
197PseudohypoparathyroidismEnrichmentGNAS1.98
198Body mass index quantitative trait locus 19EnrichmentADCY31.98
199Fibrolamellar carcinomaEnrichmentPRKACA1.98
200Lymphatic malformation 8EnrichmentCALCRL1.98
201Familial avascular necrosis of the femoral headEnrichmentTRPV41.98
202Immune system diseaseEnrichmentPIK3CD1.98
203Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.98
204Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.98
205Smith-kingsmore syndromeEnrichmentMTOR1.98
206Hereditary lymphedema iEnrichmentFLT41.98
207Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.98
208Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.98
209Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.98
210TeratomaEnrichmentCTNNB11.98
211Cerebral visual impairmentEnrichmentGNB11.98
212Colorectal cancerEnrichmentAKT1, CTNNB1, PIK3CA1.97
213Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.96
214Hydrops fetalisEnrichmentPIEZO11.95
215Long qt syndromeEnrichmentCALM1, CALM21.94
216Leukemia, chronic lymphocyticEnrichmentP2RX71.90
217Autosomal dominant macrothrombocytopeniaEnrichmentITGB31.90
218Chronic mucocutaneous candidiasisEnrichmentSTAT11.88
219Epilepsy, idiopathic generalizedEnrichmentCACNA1H1.86
220Leukemia, chronic myeloidEnrichmentABL11.81
221Common variable immunodeficiencyEnrichmentNFKB11.81
222Moyamoya angiopathyEnrichmentABL11.81
223B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL11.81
224Desmoid disease, hereditaryEnrichmentCTNNB11.81
225Mccune-albright syndromeEnrichmentGNAS1.81
226Pompe disease, infantile-onsetEnrichmentPIK3CA1.81
227Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP141.81
228Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.81
229Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD1.81
230Anus, imperforateEnrichmentCTNNB11.81
231Exudative vitreoretinopathy 7EnrichmentCTNNB11.81
232Desmoid tumorEnrichmentCTNNB11.81
233Immunodeficiency 14EnrichmentPIK3CD1.81
234Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.81
235Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.81
236KeratoacanthomaEnrichmentPIK3CA1.81
237Ovarian cancerEnrichmentAKT1, CTNNB1, PIK3CA1.80
238Neural tube defectsEnrichmentITGB11.79
239Chromosome 1p36 deletion syndromeEnrichmentHSPG21.79
240Coronary heart disease 5EnrichmentIKBKG1.70
241Lung cancerEnrichmentPIK3CA, PPP2R1B1.69
242Chorea, benign hereditaryEnrichmentADCY51.68
243Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.68
244Pseudohypoparathyroidism, type ibEnrichmentGNAS1.68
245Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.68
246Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.68
247Focal cortical dysplasia, type iiEnrichmentMTOR1.68
248PilomatrixomaEnrichmentCTNNB11.68
249Carney complex variantEnrichmentPRKAR1A1.68
250Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.68
251Alazami syndromeEnrichmentCTNNB11.68
252Cerebrovascular diseaseEnrichmentPIK3CA1.68
253CraniopharyngiomaEnrichmentCTNNB11.68
254Familial cerebral cavernous malformationsEnrichmentPIK3CA1.68
255Isolated focal cortical dysplasia type iiEnrichmentMTOR1.68
256Familial sick sinus syndromeEnrichmentGNB21.68
257Ciliary dyskinesia, primary, 3EnrichmentNFKB11.66
258Hereditary breast carcinomaEnrichmentAKT1, PIK3CA1.65
259Alzheimer disease 2EnrichmentNOS31.59
260Exudative vitreoretinopathy 1EnrichmentCTNNB11.59
261Pre-eclampsiaEnrichmentNOS31.59
262Genetic motor neuron diseaseEnrichmentTRPV41.59
263Myocardial infarctionEnrichmentITGB31.56
264Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS1.55
265Microphthalmia/coloboma 12EnrichmentYAP11.55
266Heart diseaseEnrichmentABL11.52
267Cowden syndrome 1EnrichmentPIK3CA1.51
268Weyers acrofacial dysostosisEnrichmentCTNNB11.51
269Hemihyperplasia, isolatedEnrichmentPIK3CA1.51
270Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.51
271Lung squamous cell carcinomaEnrichmentPIK3CA1.51
272Coloboma of maculaEnrichmentYAP11.49
273GliosarcomaEnrichmentNFKBIA1.46
274Severe covid-19EnrichmentITGAV1.45
275Nevus, epidermalEnrichmentPIK3CA1.44
276Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.44
277Renal cell carcinoma, papillary, 1EnrichmentMTOR1.44
278BrachydactylyEnrichmentGNAS1.44
279Overgrowth syndromeEnrichmentMTOR1.44
280Giant cell glioblastomaEnrichmentNFKBIA1.43
281Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.39
282Exudative vitreoretinopathyEnrichmentCTNNB11.39
283Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.39
284HypothyroidismEnrichmentGNB11.39
285Arteriovenous malformationEnrichmentPIK3CA1.34
286Systemic lupus erythematosusEnrichmentSPP11.32
287MalariaEnrichmentIKBKG1.30
288Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL11.30
289Stroke, ischemicEnrichmentNOS31.29
290Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.29
291Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD1.29
292Primary bone dysplasiaEnrichmentTRPV41.29
293MicrocephalyEnrichmentABL1, CTNNB1, GNB11.27
294Leukemia, acute lymphoblasticEnrichmentGNB11.25
295Myelodysplastic syndromeEnrichmentGNB11.25
296OsteochondrodysplasiaEnrichmentTRPV41.25
297Lung non-small cell carcinomaEnrichmentPIK3CA1.25
298Myeloma, multipleEnrichmentPIK3R2, YAP11.24
299ThrombocytopeniaEnrichmentITGB31.23
300Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentTRPV41.18
301Acute promyelocytic leukemiaEnrichmentPRKAR1A1.18
302ClubfootEnrichmentTRPV41.18
303Nk-cell enteropathyEnrichmentPIK3CB1.18
304Undetermined early-onset epileptic encephalopathyEnrichmentCACNA2D11.17
305Severe combined immunodeficiencyEnrichmentIKBKB1.15
306MedulloblastomaEnrichmentCTNNB11.15
307Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.12
308Lynch syndromeEnrichmentPIK3CA1.12
309Rare genetic intellectual disabilityEnrichmentMTOR1.12
310Alzheimer disease, familial, 1EnrichmentNOS31.07
311Cleft palate, isolatedEnrichmentGNB11.07
312Sudden infant death syndromeEnrichmentCALM21.07
313Polycystic liver diseaseEnrichmentCTNNB11.07
314Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.07
315Type 2 diabetes mellitusEnrichmentPTPN11.05
316Beckwith-wiedemann syndromeEnrichmentTRPV41.04
317Neuromuscular diseaseEnrichmentTRPV41.04
318Nephrotic syndromeEnrichmentFN11.04
319Endometrial cancerEnrichmentPIK3CA0.98
320HepatoblastomaEnrichmentCTNNB10.98
321Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGJA10.97
322Congenital nervous system abnormalityEnrichmentCTNNB1, GNB50.97
323Nervous system diseaseEnrichmentCTNNB1, GNB50.97
324Attention deficit-hyperactivity disorderEnrichmentGNB50.96
325Familial isolated dilated cardiomyopathyEnrichmentVCL0.95
326Congenital stationary night blindnessEnrichmentGNB30.94
327StrabismusEnrichmentGNB10.88
328Prostate cancerEnrichmentPIK3CA0.85
329Connective tissue diseaseEnrichmentTRPV40.81
330Dilated cardiomyopathyEnrichmentVCL0.79
331DystoniaEnrichmentGNB10.77
332Cerebral palsyEnrichmentGNB10.73
333Charcot-marie-tooth diseaseEnrichmentTRPV40.71
334Gastric cancerEnrichmentPIK3CA0.69
335Complex neurodevelopmental disorderEnrichmentGNB2, PPP2CA0.67
336Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB10.64
337HypertelorismEnrichmentPIK3CA0.62
338Primary ciliary dyskinesiaEnrichmentPRKAR1B0.48
339Autism spectrum disorderEnrichmentGNB10.36
340Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.30

Loading...
Loading...
Loading...