Cell surface interactions at the vascular wall

Pathway network for the Cell surface interactions at the vascular wall SuperPath

Sources:
  • Reactome

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

Disorders associated with Cell surface interactions at the vascular wall SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, PTPN11, SOS110.82
2Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, PTPN11, SOS110.02
3Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA9.99
4Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, SOS19.99
5RasopathyEnrichmentHRAS, KRAS, NRAS, PTPN11, SOS19.85
6Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS, PIK3CA9.14
7Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS8.11
8Non-immune hydrops fetalisEnrichmentANGPT2, HRAS, KRAS, PTPN117.18
9Arteriovenous malformationEnrichmentHRAS, PIK3CA, TEK6.79
10Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA, TEK6.63
11Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, PTPN116.37
12Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS5.78
13Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R15.30
14Large congenital melanocytic nevusEnrichmentHRAS, NRAS5.30
15Bladder cancerEnrichmentHRAS, KRAS, PIK3CA5.15
16Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS5.15
17ThrombocytopeniaEnrichmentITGB3, PTPN11, SRC5.05
18Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R25.00
19Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS5.00
20Breast adenocarcinomaEnrichmentKRAS, PIK3CA4.60
21Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA4.60
22Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS4.46
23Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA4.46
24Leukemia, chronic myeloidEnrichmentKRAS, NRAS4.46
25Gallbladder cancerEnrichmentKRAS, PIK3CA4.46
26Follicular thyroid carcinomaEnrichmentHRAS, NRAS4.46
27Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS4.33
28Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A24.01
29Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A24.01
30Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.96
31Breast cancerEnrichmentKRAS, PIK3CA, SHC13.90
32Lynch syndromeEnrichmentKRAS, PIK3CA3.76
33Colorectal cancerEnrichmentNRAS, PIK3CA, PIK3R13.71
34Cystic fibrosisEnrichmentCEACAM3, CEACAM6, MIF, TGFB13.57
35High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A23.53
36OsteoporosisEnrichmentCOL1A1, COL1A2, SRC3.49
37Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN113.28
38Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A23.23
39Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A23.23
40Lung cancerEnrichmentKRAS, PIK3CA3.09
41MetachondromatosisEnrichmentPTPN113.05
42Leopard syndrome 1EnrichmentPTPN113.05
43Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG13.05
44Immunodeficiency 22EnrichmentLCK3.05
45Thrombocytopenia 6EnrichmentSRC3.05
46Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN3.05
47Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV3.05
48Vegetative pyoderma gangrenosumEnrichmentPTPN63.05
49Bullous pyoderma gangrenosumEnrichmentPTPN63.05
50Pustular pyoderma gangrenosumEnrichmentPTPN63.05
51Classic pyoderma gangrenosumEnrichmentPTPN63.05
52Malignant astrocytomaEnrichmentPTPN113.05
53Leukemia, acute myeloidEnrichmentKRAS, NRAS2.90
54MacrodactylyEnrichmentPIK3CA2.88
55Oculoectodermal syndromeEnrichmentKRAS2.88
56Noonan syndrome 4EnrichmentSOS12.88
57Megalencephaly, autosomal dominantEnrichmentPIK3CA2.88
58Cowden syndrome 5EnrichmentPIK3CA2.88
59Melanosis, neurocutaneousEnrichmentNRAS2.88
60Noonan syndrome 6EnrichmentNRAS2.88
61Angioedema, hereditary, 5EnrichmentANGPT12.88
62Cerebral cavernous malformations 4EnrichmentPIK3CA2.88
63Venous malformations, multiple cutaneous and mucosalEnrichmentTEK2.88
64Short syndromeEnrichmentPIK3R12.88
65Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.88
66Hemifacial myohyperplasiaEnrichmentPIK3CA2.88
67Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.88
68Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.88
69Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.88
70Glaucoma 3, primary congenital, eEnrichmentTEK2.88
71Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.88
72HypospadiasEnrichmentPIK3CA2.88
73Bockenheimer syndromeEnrichmentTEK2.88
74Congenital pulmonary airway malformationEnrichmentKRAS2.88
75Rare venous malformationEnrichmentPIK3CA2.88
76Diaphragmatic eventrationEnrichmentPIK3CA2.88
77Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.88
78Rare combined vascular malformationEnrichmentPIK3CA2.88
79Cavernous lymphangiomaEnrichmentPIK3CA2.88
80Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.88
81Phakomatosis pigmentokeratoticaEnrichmentHRAS2.88
82Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.88
83Eccrine angiomatous hamartomaEnrichmentPIK3CA2.88
84Macrodactyly of toeEnrichmentPIK3CA2.88
85Neurocutaneous melanocytosisEnrichmentNRAS2.88
86Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A22.84
87Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A22.84
88Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A22.84
89Gastric cancerEnrichmentKRAS, PIK3CA2.84
90MalariaEnrichmentGYPA, GYPB, GYPC2.83
91Hereditary breast carcinomaEnrichmentKRAS, PIK3CA2.82
92Werner syndromeEnrichmentPTPN112.75
93Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A22.70
94Myeloma, multipleEnrichmentKRAS, PIK3R22.61
95Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB32.58
96Bleeding disorder, platelet-type, 16EnrichmentITGB32.58
97Neutrophilic dermatosis, acute febrileEnrichmentPTPN62.58
98Bleeding disorder, platelet-type, 24EnrichmentITGB32.58
99Tricuspid valve insufficiencyEnrichmentPTPN112.58
100Blue rubber bleb nevusEnrichmentTEK2.58
101Fibromatosis, gingival, 1EnrichmentSOS12.58
102Costello syndromeEnrichmentHRAS2.58
103Pulmonic stenosisEnrichmentSOS12.58
104Keratosis, seborrheicEnrichmentPIK3CA2.58
105Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.58
106Noonan syndrome 8EnrichmentPIK3CA2.58
107Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.58
108Lymphatic malformation 10EnrichmentANGPT22.58
109Wooly hair nevusEnrichmentHRAS2.58
110Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN112.45
111Noonan syndrome with multiple lentiginesEnrichmentPTPN112.45
112Pompe disease, infantile-onsetEnrichmentPIK3CA2.40
113Nuchal bleb, familialEnrichmentSOS12.40
114Langerhans cell histiocytosisEnrichmentNRAS2.40
115Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.40
116Immunodeficiency 14EnrichmentPIK3R12.40
117SpermatocytomaEnrichmentHRAS2.40
118KeratoacanthomaEnrichmentPIK3CA2.40
119Autosomal non-syndromic agammaglobulinemiaEnrichmentIGLL1, PIK3R12.38
120Primary bone dysplasiaEnrichmentCOL1A1, COL1A22.38
121Glanzmann thrombasthenia 2EnrichmentITGB32.35
122LymphomaEnrichmentPTPN112.35
123OsteochondrodysplasiaEnrichmentCOL1A1, COL1A22.29
124Patent ductus arteriosusEnrichmentPTPN112.28
125Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB32.28
126Cardiofaciocutaneous syndrome 1EnrichmentKRAS2.28
127Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS2.28
128Glaucoma 3, primary infantile, bEnrichmentTEK2.28
129Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R22.28
130Cardiofaciocutaneous syndromeEnrichmentKRAS2.28
131Lung sarcomatoid carcinomaEnrichmentKRAS2.28
132Cerebrovascular diseaseEnrichmentPIK3CA2.28
133Pilocytic astrocytomaEnrichmentKRAS2.28
134Epidermolytic nevusEnrichmentHRAS2.28
135Familial cerebral cavernous malformationsEnrichmentPIK3CA2.28
136Gingival fibromatosisEnrichmentSOS12.28
137Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentANGPT12.28
138MyelofibrosisEnrichmentSRC2.21
139Glanzmann thrombasthenia 1EnrichmentITGB32.21
140Capillary malformations, congenitalEnrichmentPIK3CA2.18
141Microcephaly 1, primary, autosomal recessiveEnrichmentANGPT22.18
142HemimegalencephalyEnrichmentPIK3CA2.18
143Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A22.15
144Ovarian cancerEnrichmentKRAS, PIK3CA2.11
145Klippel-trenaunay-weber syndromeEnrichmentPIK3CA2.10
146Cowden syndrome 1EnrichmentPIK3CA2.10
147Hemihyperplasia, isolatedEnrichmentPIK3CA2.10
148Autosomal dominant macrothrombocytopeniaEnrichmentITGB32.05
149Glaucoma 3, primary congenital, aEnrichmentTEK2.03
150Pilomyxoid astrocytomaEnrichmentKRAS2.03
151Overgrowth syndromeEnrichmentPIK3R12.03
152Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A22.02
153Pectus excavatumEnrichmentPTPN112.01
154Specific learning disabilityEnrichmentPTPN112.01
155Thrombophilia due to protein c deficiency, autosomal dominantEnrichmentPROC2.00
156Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.00
157Hydrocephalus due to congenital stenosis of aqueduct of sylviusEnrichmentL1CAM2.00
158Systemic lupus erythematosus 6EnrichmentITGAM2.00
159Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.00
160Hemolytic uremic syndrome, atypical 6EnrichmentTHBD2.00
161Prothrombin deficiency, congenitalEnrichmentF22.00
162Thrombophilia due to protein s deficiency, autosomal dominantEnrichmentPROS12.00
163Erythrocyte lactate transporter defectEnrichmentSLC16A12.00
164Thrombophilia due to protein s deficiency, autosomal recessiveEnrichmentPROS12.00
165Bleeding disorder, platelet-type, 11EnrichmentGP62.00
166Pulmonary hypertension, primary, 3EnrichmentCAV12.00
167Basal ganglia calcification, idiopathic, 8, autosomal recessiveEnrichmentJAM22.00
168Corpus callosum, partial agenesis of, x-linkedEnrichmentL1CAM2.00
169Hydrocephalus, congenital, x-linkedEnrichmentL1CAM2.00
170Intellectual developmental disorder, x-linked 58EnrichmentTSPAN72.00
171Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.00
172Masa syndromeEnrichmentL1CAM2.00
173Lipodystrophy, familial partial, type 7EnrichmentCAV12.00
174Thrombophilia due to protein c deficiency, autosomal recessiveEnrichmentPROC2.00
175Thrombophilia due to thrombomodulin defectEnrichmentTHBD2.00
176Blood group, gerbich systemEnrichmentGYPC2.00
177Lynch syndrome 8EnrichmentEPCAM2.00
178Hemorrhagic destruction of the brain, subependymal calcification, and cataractsEnrichmentJAM32.00
179Pregnancy loss, recurrent 2EnrichmentF22.00
180Agammaglobulinemia 2, autosomal recessiveEnrichmentIGLL12.00
181Protein s deficiencyEnrichmentPROS12.00
182Spastic paraplegia 75, autosomal recessiveEnrichmentMAG2.00
183Asphyxia neonatorumEnrichmentCOL1A12.00
184Prothrombin deficiencyEnrichmentF22.00
185Severe hereditary thrombophilia due to congenital protein c deficiencyEnrichmentPROC2.00
186Protein c deficiencyEnrichmentPROC2.00
187X-linked complicated spastic paraplegia type 1EnrichmentL1CAM2.00
188Hereditary thrombophilia due to congenital protein s deficiencyEnrichmentPROS12.00
189Porencephaly-microcephaly-bilateral congenital cataract syndromeEnrichmentJAM32.00
190EpicanthusEnrichmentPTPN111.98
191Congenital long qt syndromeEnrichmentPTPN111.98
192Adult hepatocellular carcinomaEnrichmentPIK3CA1.93
193Ventricular septal defectEnrichmentTEK1.93
194Cowden syndromeEnrichmentPIK3CA1.93
195Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A21.82
196MeningiomaEnrichmentPIK3CA1.80
197Patent foramen ovaleEnrichmentPTPN111.80
198Aortic valve disease 1EnrichmentSOS11.77
199Protein-deficiency anemiaEnrichmentNRAS1.77
200Nk-cell enteropathyEnrichmentPIK3CB1.77
201Lung cancer susceptibility 3EnrichmentKRAS1.73
20246,xy partial gonadal dysgenesisEnrichmentSOS11.73
203Myocardial infarctionEnrichmentITGB31.71
204Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A11.70
205Leukocyte adhesion deficiency, type iEnrichmentITGB21.70
206Camurati-engelmann disease 1EnrichmentTGFB11.70
207Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.70
208Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.70
209Bruck syndrome 1EnrichmentCOL1A21.70
210Dermatofibrosarcoma protuberansEnrichmentCOL1A11.70
211Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.70
212Monocarboxylate transporter 1 deficiencyEnrichmentSLC16A11.70
213Diarrhea 5, with tufting enteropathy, congenitalEnrichmentEPCAM1.70
214Hypobetalipoproteinemia, familial, 1EnrichmentAPOB1.70
215Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A11.70
216Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticityEnrichmentESAM1.70
217Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.70
218Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.70
219Recessive dystrophic epidermolysis bullosaEnrichmentMMP11.70
220Camurati-engelmann diseaseEnrichmentTGFB11.70
221Stickler syndrome, type iiEnrichmentCOL1A11.70
222Hyperinsulinemic hypoglycemia, familial, 7EnrichmentSLC16A11.70
223HypobetalipoproteinemiaEnrichmentAPOB1.70
224Retinitis pigmentosa 38EnrichmentMERTK1.70
225Ketoacidosis due to monocarboxylate transporter-1 deficiencyEnrichmentSLC16A11.70
226Dentinogenesis imperfectaEnrichmentCOL1A21.70
227RhabdomyosarcomaEnrichmentHRAS1.68
228ScoliosisEnrichmentPTPN111.68
229Brittle bone disorderEnrichmentCOL1A1, COL1A21.66
230StrabismusEnrichmentPTPN111.63
231Arteriovenous malformations of the brainEnrichmentKRAS1.60
232Severe covid-19EnrichmentITGAV1.60
233Long qt syndrome 1EnrichmentPTPN111.58
234Endometrial cancerEnrichmentPIK3CA1.56
235Hepatocellular carcinomaEnrichmentPIK3CA1.54
236Severe combined immunodeficiencyEnrichmentLCK1.54
237Hypercholesterolemia, familial, 2EnrichmentAPOB1.53
238Lysinuric protein intoleranceEnrichmentSLC7A71.53
239Glomerulopathy with fibronectin deposits 2EnrichmentFN11.53
240Caffey diseaseEnrichmentCOL1A11.53
241Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.53
242Cerebral sinovenous thrombosisEnrichmentF21.53
243Pancreatic cancerEnrichmentKRAS1.49
244Hypertrophic cardiomyopathyEnrichmentPTPN111.43
245Prostate cancerEnrichmentPIK3CA1.42
246CystinuriaEnrichmentSLC7A91.41
247PhenylketonuriaEnrichmentCOL1A11.41
248Retinitis pigmentosa 26EnrichmentITGA41.41
249Hereditary elliptocytosisEnrichmentGYPC1.41
250Systemic-onset juvenile idiopathic arthritisEnrichmentMIF1.41
251Primary autosomal recessive microcephalyEnrichmentANGPT21.38
252Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN111.31
253Hyperlipidemia, familial combined, 3EnrichmentAPOB1.31
254Rheumatoid arthritis, systemic juvenileEnrichmentMIF1.31
255Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentL1CAM1.31
256Epidermolysis bullosaEnrichmentITGA61.31
257Diffuse cutaneous systemic sclerosisEnrichmentCAV11.31
258Cerebral palsyEnrichmentF2, PROC1.24
259Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA61.23
260Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.23
261KeratoconusEnrichmentCOL1A11.23
262Limited sclerodermaEnrichmentCAV11.23
263Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.23
264Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentTHBD1.23
265HypertelorismEnrichmentPIK3CA1.17
266Thrombophilia due to thrombin defectEnrichmentF21.17
267Nephrotic syndromeEnrichmentFN1, ITGA31.17
268Hereditary breast ovarian cancer syndromeEnrichmentKRAS1.15
269Basal ganglia calcification, idiopathic, 1EnrichmentJAM21.11
270Homozygous familial hypercholesterolemiaEnrichmentAPOB1.11
271Male infertility due to globozoospermiaEnrichmentPICK11.11
272Rheumatoid arthritisEnrichmentCD2441.06
273Coronary heart disease 5EnrichmentAPOB1.06
274Junctional epidermolysis bullosaEnrichmentITGA61.06
275Colonic benign neoplasmEnrichmentEPCAM1.06
276Hydrops fetalisEnrichmentL1CAM1.06
277Autism spectrum disorderEnrichmentPTPN111.03
278Lynch syndrome 1EnrichmentEPCAM1.02
279Stroke, ischemicEnrichmentF21.02
280MicrocephalyEnrichmentPTPN110.98
281Heritable pulmonary arterial hypertensionEnrichmentCAV10.98
282Inherited cancer-predisposing syndromeEnrichmentPTPN110.96
283Hypercholesterolemia, familial, 1EnrichmentAPOB0.91
284Neural tube defectsEnrichmentITGB10.91
285CataractEnrichmentSLC7A80.88
286Isolated macular dystrophyEnrichmentITGA40.88
287Familial hypercholesterolemiaEnrichmentAPOB0.86
288Hypertension, essentialEnrichmentATP1B10.81
289Multisystem inflammatory syndrome in childrenEnrichmentCD840.70
290Autoinflammatory diseaseEnrichmentSLC7A70.67
291Non-syndromic x-linked intellectual disabilityEnrichmentTSPAN70.52
292Systemic lupus erythematosusEnrichmentITGAM0.49
293Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A10.45
294Body mass index quantitative trait locus 11EnrichmentSDC30.40
295Cone-rod dystrophy 2EnrichmentITGA40.31
296Hereditary retinal dystrophyEnrichmentITGA4, MERTK0.10
297Fundus dystrophyEnrichmentITGA4, MERTK0.10
298Retinitis pigmentosaEnrichmentMERTK0.05

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