PAR1-mediated thrombin signaling events

No Pathway Network information available for PAR1-mediated thrombin signaling events

Pathways in the PAR1-mediated thrombin signaling events SuperPath

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

Disorders associated with PAR1-mediated thrombin signaling events SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.94
2Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA4.24
3Stroke, ischemicEnrichmentF2, NOS33.77
4MacrodactylyEnrichmentPIK3CA2.70
5Megalencephaly, autosomal dominantEnrichmentPIK3CA2.70
6Prothrombin deficiency, congenitalEnrichmentF22.70
7Cowden syndrome 5EnrichmentPIK3CA2.70
8Focal segmental glomerulosclerosis 2EnrichmentTRPC62.70
9Nephrotic syndrome, type 8EnrichmentARHGDIA2.70
10Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.70
11Immunodeficiency 62EnrichmentARHGEF12.70
12Cerebral cavernous malformations 4EnrichmentPIK3CA2.70
13Short syndromeEnrichmentPIK3R12.70
14Hemifacial myohyperplasiaEnrichmentPIK3CA2.70
15Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.70
16Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.70
17Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.70
18Pregnancy loss, recurrent 2EnrichmentF22.70
19Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.70
20Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.70
21Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.70
22Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.70
23HypospadiasEnrichmentPIK3CA2.70
24Prothrombin deficiencyEnrichmentF22.70
25Rare venous malformationEnrichmentPIK3CA2.70
26Diaphragmatic eventrationEnrichmentPIK3CA2.70
27Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.70
28Rare combined vascular malformationEnrichmentPIK3CA2.70
29Cavernous lymphangiomaEnrichmentPIK3CA2.70
30Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.70
31Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.70
32Eccrine angiomatous hamartomaEnrichmentPIK3CA2.70
33Macrodactyly of toeEnrichmentPIK3CA2.70
34Genetic steroid-resistant nephrotic syndromeEnrichmentARHGDIA, TRPC62.69
35Cerebral palsyEnrichmentF2, GNB12.57
36Keratosis, seborrheicEnrichmentPIK3CA2.40
37Noonan syndrome 8EnrichmentPIK3CA2.40
38Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.40
39Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL22.40
40Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL22.40
41Cerebral visual impairmentEnrichmentGNB12.40
42Pompe disease, infantile-onsetEnrichmentPIK3CA2.22
43Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.22
44Developmental and epileptic encephalopathy 31bEnrichmentDNM12.22
45Immunodeficiency 14EnrichmentPIK3R12.22
46KeratoacanthomaEnrichmentPIK3CA2.22
47Cerebral sinovenous thrombosisEnrichmentF22.22
48Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA2.10
49Cerebrovascular diseaseEnrichmentPIK3CA2.10
50Familial cerebral cavernous malformationsEnrichmentPIK3CA2.10
51Capillary malformations, congenitalEnrichmentPIK3CA2.00
52Alzheimer disease 2EnrichmentNOS32.00
53Developmental and epileptic encephalopathy 31aEnrichmentDNM12.00
54Pre-eclampsiaEnrichmentNOS32.00
55HemimegalencephalyEnrichmentPIK3CA2.00
56Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.92
57Cowden syndrome 1EnrichmentPIK3CA1.92
58Breast adenocarcinomaEnrichmentPIK3CA1.92
59Lung squamous cell carcinomaEnrichmentPIK3CA1.92
60Colorectal cancerEnrichmentPIK3CA, PIK3R11.89
61Nevus, epidermalEnrichmentPIK3CA1.86
62Thrombophilia due to thrombin defectEnrichmentF21.86
63Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.86
64Gallbladder cancerEnrichmentPIK3CA1.86
65Overgrowth syndromeEnrichmentPIK3R11.86
66Familial isolated restrictive cardiomyopathyEnrichmentMYL21.86
67Lennox-gastaut syndromeEnrichmentDNM11.80
68HypothyroidismEnrichmentGNB11.80
69Arteriovenous malformationEnrichmentPIK3CA1.75
70Adult hepatocellular carcinomaEnrichmentPIK3CA1.75
71Cowden syndromeEnrichmentPIK3CA1.75
72Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.70
73Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.70
74Leukemia, acute lymphoblasticEnrichmentGNB11.66
75Myelodysplastic syndromeEnrichmentGNB11.66
76Lung non-small cell carcinomaEnrichmentPIK3CA1.66
77MeningiomaEnrichmentPIK3CA1.63
78Lip and oral cavity carcinomaEnrichmentPIK3CA1.63
79Stereotypic movement disorderEnrichmentDNM11.59
80Heart diseaseEnrichmentMYL21.56
81Congenital myopathy 4a, autosomal dominantEnrichmentMYL21.53
82Lynch syndromeEnrichmentPIK3CA1.53
83Alzheimer disease, familial, 1EnrichmentNOS31.48
84Hypertension, essentialEnrichmentNOS31.48
85Cleft palate, isolatedEnrichmentGNB11.48
86Cardiomyopathy, dilated, 1eEnrichmentMYL21.48
87Focal segmental glomerulosclerosisEnrichmentTRPC61.41
88Endometrial cancerEnrichmentPIK3CA1.39
89Hepatocellular carcinomaEnrichmentPIK3CA1.37
90StrabismusEnrichmentGNB11.28
91Bladder cancerEnrichmentPIK3CA1.25
92Prostate cancerEnrichmentPIK3CA1.25
93Lung cancerEnrichmentPIK3CA1.21
94Familial hypertrophic cardiomyopathyEnrichmentMYL21.20
95DystoniaEnrichmentGNB11.17
96Gastric cancerEnrichmentPIK3CA1.08
97Nephrotic syndromeEnrichmentTRPC61.08
98Hypertrophic cardiomyopathyEnrichmentMYL21.08
99West syndromeEnrichmentDNM11.08
100Hereditary breast carcinomaEnrichmentPIK3CA1.08
101Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB11.02
102HypertelorismEnrichmentPIK3CA1.01
103Undetermined early-onset epileptic encephalopathyEnrichmentDNM10.98
104Primary ovarian insufficiencyEnrichmentNOS30.95
105Breast cancerEnrichmentPIK3CA0.86
106Dilated cardiomyopathyEnrichmentMYL20.83
107Ovarian cancerEnrichmentPIK3CA0.74
108Autism spectrum disorderEnrichmentGNB10.71
109MicrocephalyEnrichmentGNB10.66

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