Signaling events mediated by focal adhesion kinase

No Pathway Network information available for Signaling events mediated by focal adhesion kinase

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

Disorders associated with Signaling events mediated by focal adhesion kinase SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome 1EnrichmentBRAF, MAP2K1, RAF1, RRAS, SOS17.58
2Noonan syndrome and noonan-related syndromeEnrichmentBRAF, MAP2K1, RAF1, SOS16.53
3Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA, RASA15.69
4RasopathyEnrichmentBRAF, MAP2K1, RAF1, SOS15.50
5Arteriovenous malformationEnrichmentMAP2K1, PIK3CA, RASA15.31
6Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K1, PIK3CA, RASA15.15
7Lung non-small cell carcinomaEnrichmentBRAF, MAP2K1, PIK3CA5.02
8Pulmonic stenosisEnrichmentBRAF, SOS14.81
9Colorectal cancerEnrichmentBRAF, CCND1, PIK3CA, PIK3R1, SRC4.62
10Langerhans cell histiocytosisEnrichmentBRAF, MAP2K14.33
11Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.33
12Cardiofaciocutaneous syndrome 1EnrichmentBRAF, MAP2K14.03
13Cardiofaciocutaneous syndromeEnrichmentBRAF, MAP2K14.03
14Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF14.03
15Capillary malformations, congenitalEnrichmentPIK3CA, RASA13.81
16Klippel-trenaunay-weber syndromeEnrichmentPIK3CA, RASA13.64
17Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.64
18Dilated cardiomyopathyEnrichmentACTA1, BRAF, RAF1, VCL3.55
19Noonan syndrome 3EnrichmentRAF1, SOS13.49
20Gallbladder cancerEnrichmentBRAF, PIK3CA3.49
21Pilomyxoid astrocytomaEnrichmentBRAF, RAF13.49
22Melanocytic nevus syndrome, congenitalEnrichmentBRAF, RAF13.37
23Juvenile myelomonocytic leukemiaEnrichmentARHGAP26, RRAS3.00
24Lip and oral cavity carcinomaEnrichmentBRAF, PIK3CA3.00
25MacrodactylyEnrichmentPIK3CA2.40
26Cystic angiomatosis of bone, diffuseEnrichmentRASA12.40
27Noonan syndrome 5EnrichmentRAF12.40
28Noonan syndrome 4EnrichmentSOS12.40
29Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.40
30Melorheostosis, isolatedEnrichmentMAP2K12.40
31Megalencephaly, autosomal dominantEnrichmentPIK3CA2.40
32Noonan syndrome 7EnrichmentBRAF2.40
33Leopard syndrome 3EnrichmentBRAF2.40
34Cardiomyopathy, dilated, 1nnEnrichmentRAF12.40
35Cowden syndrome 5EnrichmentPIK3CA2.40
36Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.40
37Myopathy, scapulohumeroperonealEnrichmentACTA12.40
38Cerebral cavernous malformations 4EnrichmentPIK3CA2.40
39Noonan syndrome 13EnrichmentMAPK12.40
40Short syndromeEnrichmentPIK3R12.40
41Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.40
42Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.40
43Cardiomyopathy, dilated, 1wEnrichmentVCL2.40
44LymphangiomaEnrichmentBRAF2.40
45Hemifacial myohyperplasiaEnrichmentPIK3CA2.40
46Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.40
47Phace associationEnrichmentBRAF2.40
48MelorheostosisEnrichmentMAP2K12.40
49Leopard syndrome 2EnrichmentRAF12.40
50Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL2.40
51Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.40
52Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.40
53Bleeding disorder, platelet-type, 15EnrichmentACTN12.40
54Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.40
55Immunodeficiency 22EnrichmentLCK2.40
56Thrombocytopenia 6EnrichmentSRC2.40
57Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.40
58Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.40
59Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.40
60TrigonitisEnrichmentRAF12.40
61Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.40
62HypospadiasEnrichmentPIK3CA2.40
63Rare venous malformationEnrichmentPIK3CA2.40
64Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.40
65Gorham's diseaseEnrichmentRASA12.40
66Zebra body myopathyEnrichmentACTA12.40
67Diaphragmatic eventrationEnrichmentPIK3CA2.40
68Capillary leak syndromeEnrichmentTLN12.40
69Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.40
70Syringocystadenoma papilliferumEnrichmentBRAF2.40
71Rare combined vascular malformationEnrichmentPIK3CA2.40
72GangliogliomaEnrichmentBRAF2.40
73Cavernous lymphangiomaEnrichmentPIK3CA2.40
74Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.40
75Nongerminomatous germ cell tumorEnrichmentBRAF2.40
76Phace syndromeEnrichmentBRAF2.40
77Actin-accumulation myopathyEnrichmentACTA12.40
78Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.40
79Classic hairy cell leukemiaEnrichmentBRAF2.40
80Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.40
81Eccrine angiomatous hamartomaEnrichmentPIK3CA2.40
82Macrodactyly of toeEnrichmentPIK3CA2.40
83Temporomandibular joint anomalyEnrichmentDOCK12.40
84Lung cancerEnrichmentBRAF, PIK3CA2.15
85Fibromatosis, gingival, 1EnrichmentSOS12.10
86Keratosis, seborrheicEnrichmentPIK3CA2.10
87Noonan syndrome 8EnrichmentPIK3CA2.10
88Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.10
89Neurodevelopmental disorder with or without variable brain abnormalitiesEnrichmentMAPK8IP32.10
90Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.10
91Jacobsen syndromeEnrichmentETS11.92
92Ataxia-telangiectasiaEnrichmentBRAF1.92
93Pompe disease, infantile-onsetEnrichmentPIK3CA1.92
94Nuchal bleb, familialEnrichmentSOS11.92
95Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.92
96Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.92
97Tethered spinal cord syndromeEnrichmentBRAF1.92
98Wieacker-wolff syndromeEnrichmentRASA11.92
99Immunodeficiency 14EnrichmentPIK3R11.92
100KeratoacanthomaEnrichmentPIK3CA1.92
101ThrombocytopeniaEnrichmentACTN1, SRC1.81
102Nemaline myopathy 2EnrichmentACTA11.80
103Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYLK1.80
104Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.80
105Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.80
106Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.80
107Mantle cell lymphomaEnrichmentCCND11.80
108Cerebrovascular diseaseEnrichmentPIK3CA1.80
109CraniopharyngiomaEnrichmentBRAF1.80
110Newborn respiratory distress syndromeEnrichmentBRAF1.80
111Familial cerebral cavernous malformationsEnrichmentPIK3CA1.80
112Intermediate nemaline myopathyEnrichmentACTA11.80
113Gingival fibromatosisEnrichmentSOS11.80
114Familial isolated dilated cardiomyopathyEnrichmentRAF1, VCL1.73
115Visceral myopathy 1EnrichmentMYLK1.70
116Martsolf syndrome 1EnrichmentARHGAP351.70
117Von hippel-lindau syndromeEnrichmentCCND11.70
118Congenital myopathy 3 with rigid spineEnrichmentACTA11.70
119HemimegalencephalyEnrichmentPIK3CA1.70
120Severe congenital nemaline myopathyEnrichmentACTA11.70
121Myeloma, multipleEnrichmentBRAF, CCND11.68
122Cowden syndrome 1EnrichmentPIK3CA1.63
123Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.63
124Wilms tumor 5EnrichmentBRAF1.63
125Hemangioma, capillary infantileEnrichmentRASA11.63
126Anterior segment dysgenesis 5EnrichmentARHGAP351.63
127Basal cell carcinoma 1EnrichmentRASA11.63
128Breast adenocarcinomaEnrichmentPIK3CA1.63
129Lung squamous cell carcinomaEnrichmentPIK3CA1.63
130Typical nemaline myopathyEnrichmentACTA11.63
131Nevus, epidermalEnrichmentPIK3CA1.56
132Thyroid cancer, nonmedullary, 2EnrichmentBRAF1.56
133MyelofibrosisEnrichmentSRC1.56
134Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.56
135Follicular thyroid carcinomaEnrichmentBRAF1.56
136Childhood-onset nemaline myopathyEnrichmentACTA11.56
137Overgrowth syndromeEnrichmentPIK3R11.56
138Lymphoma, non-hodgkin, familialEnrichmentBRAF1.50
139Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.45
140Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.45
141Adult hepatocellular carcinomaEnrichmentPIK3CA1.45
142Primary hyperaldosteronismEnrichmentBRAF1.45
143Ventricular septal defectEnrichmentBRAF1.45
144Cowden syndromeEnrichmentPIK3CA1.45
145Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK1.45
146Breast cancerEnrichmentJUN, PIK3CA1.45
147Leukemia, chronic lymphocyticEnrichmentCCND11.41
148Peters-plus syndromeEnrichmentARHGAP351.41
149Nemaline myopathyEnrichmentACTA11.41
150MelanomaEnrichmentBRAF1.41
151Autosomal dominant macrothrombocytopeniaEnrichmentACTN11.41
152Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.41
153Specific learning disabilityEnrichmentMAPK11.37
154MeningiomaEnrichmentPIK3CA1.33
155Aortic valve disease 1EnrichmentSOS11.30
156Neural tube defectsEnrichmentITGB11.30
157OsteoporosisEnrichmentSRC1.26
158Aortic aneurysm, familial thoracic 1EnrichmentMYLK1.26
159Lung cancer susceptibility 3EnrichmentBRAF1.26
16046,xy partial gonadal dysgenesisEnrichmentSOS11.26
161Wilms tumor 1EnrichmentBRAF1.24
162Congenital myopathy 4a, autosomal dominantEnrichmentACTA11.24
163Lynch syndromeEnrichmentPIK3CA1.24
164Melanoma, cutaneous malignant 1EnrichmentBRAF1.18
165Dandy-walker syndromeEnrichmentBRAF1.18
166Heart, malformation ofEnrichmentMAPK11.16
167Neuromuscular diseaseEnrichmentACTA11.16
168Arteriovenous malformations of the brainEnrichmentBRAF1.14
169Diffuse large b-cell lymphomaEnrichmentBRAF1.14
170Congenital myopathyEnrichmentACTA11.14
171Endometrial cancerEnrichmentPIK3CA1.09
172Centronuclear myopathyEnrichmentACTA11.09
173Hepatocellular carcinomaEnrichmentPIK3CA1.08
174Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.04
175Hydrops fetalis, nonimmuneEnrichmentACTA11.01
176Bladder cancerEnrichmentPIK3CA0.96
177Prostate cancerEnrichmentPIK3CA0.96
178Severe covid-19EnrichmentITGAV0.96
179Differentiated thyroid carcinomaEnrichmentBRAF0.96
180Non-immune hydrops fetalisEnrichmentACTA10.93
181Familial hypertrophic cardiomyopathyEnrichmentRAF10.91
182Severe combined immunodeficiencyEnrichmentLCK0.91
183Left ventricular noncompactionEnrichmentRAF10.88
184Fetal akinesia deformation sequence 1EnrichmentACTA10.86
185Systemic lupus erythematosusEnrichmentETS10.84
186Leukemia, acute myeloidEnrichmentSH3GL10.83
187MyopathyEnrichmentACTA10.83
188Distal arthrogryposisEnrichmentACTA10.81
189Gastric cancerEnrichmentPIK3CA0.80
190Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYLK0.79
191Hereditary breast carcinomaEnrichmentPIK3CA0.79
192HypertelorismEnrichmentPIK3CA0.73
193Hereditary breast ovarian cancer syndromeEnrichmentBCAR10.70
194Ovarian cancerEnrichmentPIK3CA0.48
195Autism spectrum disorderEnrichmentMAP2K10.45
196MicrocephalyEnrichmentMAPK10.41
197Complex neurodevelopmental disorderEnrichmentMAPK8IP30.41

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