PDGFR-alpha signaling pathway

No Pathway Network information available for PDGFR-alpha signaling pathway

Pathways in the PDGFR-alpha signaling pathway SuperPath

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

Disorders associated with PDGFR-alpha signaling pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R15.12
2Breast cancerEnrichmentJUN, PIK3CA, SHC13.63
3MacrodactylyEnrichmentPIK3CA2.79
4Noonan syndrome 4EnrichmentSOS12.79
5Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.79
6Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA2.79
7Megalencephaly, autosomal dominantEnrichmentPIK3CA2.79
8Cowden syndrome 5EnrichmentPIK3CA2.79
9Gist-plus syndromeEnrichmentPDGFRA2.79
10Pulmonary hypertension, primary, 3EnrichmentCAV12.79
11Cerebral cavernous malformations 4EnrichmentPIK3CA2.79
12Short syndromeEnrichmentPIK3R12.79
13Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.79
14Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA2.79
15Lipodystrophy, familial partial, type 7EnrichmentCAV12.79
16Hemifacial myohyperplasiaEnrichmentPIK3CA2.79
17Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.79
18Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.79
19Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.79
20Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.79
21Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.79
22HypospadiasEnrichmentPIK3CA2.79
23Rare venous malformationEnrichmentPIK3CA2.79
24Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.79
25Diaphragmatic eventrationEnrichmentPIK3CA2.79
26Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.79
27Rare combined vascular malformationEnrichmentPIK3CA2.79
28Cavernous lymphangiomaEnrichmentPIK3CA2.79
29Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.79
30Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.79
31Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.79
32Eccrine angiomatous hamartomaEnrichmentPIK3CA2.79
33Macrodactyly of toeEnrichmentPIK3CA2.79
34Fibromatosis, gingival, 1EnrichmentSOS12.49
35Pulmonic stenosisEnrichmentSOS12.49
36Seizures, benign familial infantile, 2EnrichmentPRRT22.49
37Keratosis, seborrheicEnrichmentPIK3CA2.49
38Noonan syndrome 8EnrichmentPIK3CA2.49
39Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.49
40Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK12.49
41Chronic eosinophilic leukemiaEnrichmentPDGFRA2.49
42Qualitative or quantitative defects of caveolin-3EnrichmentCAV32.49
43B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA2.49
44Prrt2-related disorderEnrichmentPRRT22.49
45Pompe disease, infantile-onsetEnrichmentPIK3CA2.31
46Nuchal bleb, familialEnrichmentSOS12.31
47Rippling muscle disease 2EnrichmentCAV32.31
48Glut1 deficiency syndrome 2EnrichmentPRRT22.31
49Long qt syndrome 9EnrichmentCAV32.31
50Myopathy, distal, tateyama typeEnrichmentCAV32.31
51Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.31
52Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK12.31
53Immunodeficiency 14EnrichmentPIK3R12.31
54KeratoacanthomaEnrichmentPIK3CA2.31
55Paroxysmal nonkinesigenic dyskinesia 1EnrichmentPRRT22.19
56Episodic kinesigenic dyskinesia 1EnrichmentPRRT22.19
57Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA2.19
58Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL2.19
59Congenital generalized lipodystrophyEnrichmentFOS2.19
60Cerebrovascular diseaseEnrichmentPIK3CA2.19
61Familial cerebral cavernous malformationsEnrichmentPIK3CA2.19
62Familial paroxysmal nonkinesigenic dyskinesiaEnrichmentPRRT22.19
63Familial or sporadic hemiplegic migraineEnrichmentPRRT22.19
64Gingival fibromatosisEnrichmentSOS12.19
65Capillary malformations, congenitalEnrichmentPIK3CA2.09
66Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentPRRT22.09
67Histiocytoid hemangiomaEnrichmentFOS2.09
68HemimegalencephalyEnrichmentPIK3CA2.09
69Self-limited infantile epilepsyEnrichmentPRRT22.09
70Diffuse cutaneous systemic sclerosisEnrichmentCAV12.09
71Primary hypereosinophilic syndromeEnrichmentPDGFRA2.09
72Colorectal cancerEnrichmentPIK3CA, PIK3R12.06
73Klippel-trenaunay-weber syndromeEnrichmentPIK3CA2.01
74Cowden syndrome 1EnrichmentPIK3CA2.01
75Hemihyperplasia, isolatedEnrichmentPIK3CA2.01
76Limited sclerodermaEnrichmentCAV12.01
77Breast adenocarcinomaEnrichmentPIK3CA2.01
78Lung squamous cell carcinomaEnrichmentPIK3CA2.01
79Nevus, epidermalEnrichmentPIK3CA1.95
80Gastrointestinal stromal tumorEnrichmentPDGFRA1.95
81Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.95
82Noonan syndrome 3EnrichmentSOS11.95
83Gallbladder cancerEnrichmentPIK3CA1.95
84Overgrowth syndromeEnrichmentPIK3R11.95
85Ovarian cancerEnrichmentPDGFRA, PIK3CA1.94
86Myopathy, tubular aggregate, 1EnrichmentCAV31.89
87Arteriovenous malformationEnrichmentPIK3CA1.84
88Adult hepatocellular carcinomaEnrichmentPIK3CA1.84
89Cowden syndromeEnrichmentPIK3CA1.84
90Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.79
91Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.79
92Lung non-small cell carcinomaEnrichmentPIK3CA1.75
93Heritable pulmonary arterial hypertensionEnrichmentCAV11.75
94MeningiomaEnrichmentPIK3CA1.71
95Lip and oral cavity carcinomaEnrichmentPIK3CA1.71
96Aortic valve disease 1EnrichmentSOS11.68
97Generalized epilepsy with febrile seizures plusEnrichmentPRRT21.65
98Cleft lip/palateEnrichmentPDGFRA1.65
9946,xy partial gonadal dysgenesisEnrichmentSOS11.65
100Lynch syndromeEnrichmentPIK3CA1.62
101Noonan syndrome and noonan-related syndromeEnrichmentSOS11.62
102Creatine phosphokinase, elevated serumEnrichmentCAV31.59
103Isolated elevated serum creatine phosphokinase levelsEnrichmentCAV31.59
104Sudden infant death syndromeEnrichmentCAV31.56
105Endometrial cancerEnrichmentPIK3CA1.47
106Hepatocellular carcinomaEnrichmentPIK3CA1.45
107Noonan syndrome 1EnrichmentSOS11.44
108Cardiomyopathy, familial hypertrophic, 1EnrichmentCAV31.42
109RasopathyEnrichmentSOS11.38
110Bladder cancerEnrichmentPIK3CA1.34
111Prostate cancerEnrichmentPIK3CA1.34
112Severe covid-19EnrichmentITGAV1.34
113Long qt syndrome 1EnrichmentCAV31.32
114Long qt syndromeEnrichmentCAV31.31
115Lung cancerEnrichmentPIK3CA1.30
116Familial hypertrophic cardiomyopathyEnrichmentCAV31.28
117Gastric cancerEnrichmentPIK3CA1.17
118Hereditary breast carcinomaEnrichmentPIK3CA1.16
119HypertelorismEnrichmentPIK3CA1.09
120Autism spectrum disorderEnrichmentCSNK2A10.79
121Complex neurodevelopmental disorderEnrichmentCSNK2A10.74
122Inherited cancer-predisposing syndromeEnrichmentPDGFRA0.71

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