PI3K / Akt Signaling

No Pathway Network information available for PI3K / Akt Signaling

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

Disorders associated with PI3K / Akt Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1HemimegalencephalyEnrichmentAKT3, PIK3CA, PTEN, RHEB8.01
2Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R25.92
3Focal cortical dysplasia, type iiEnrichmentRHEB, TSC1, TSC25.92
4Isolated focal cortical dysplasia type iiEnrichmentRHEB, TSC1, TSC25.92
5Adult hepatocellular carcinomaEnrichmentPIK3CA, TSC1, TSC24.61
6Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN4.61
7LymphangioleiomyomatosisEnrichmentTSC1, TSC24.34
8MeningiomaEnrichmentAKT1, PIK3CA, PTEN4.20
9Tuberous sclerosis 1EnrichmentTSC1, TSC23.87
10Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.87
11Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.87
12HamartomaEnrichmentTSC1, TSC23.87
13Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.87
14Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.57
15Malignant epithelioid hemangioendotheliomaEnrichmentWWTR1, YAP13.57
16Tuberous sclerosisEnrichmentTSC1, TSC23.57
17Ovarian cancerEnrichmentAKT1, KIF1B, PIK3CA, PTEN, TSC23.21
18Cowden syndrome 1EnrichmentPIK3CA, PTEN3.17
19Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.17
20Bladder cancerEnrichmentPIK3CA, PTEN, TSC13.01
21Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.70
22Colorectal cancerEnrichmentAKT1, PIK3CA, PIK3R1, SGK22.54
23Hereditary breast carcinomaEnrichmentAKT1, PIK3CA, PTEN2.49
24Myeloma, multipleEnrichmentPIK3R2, SGK1, YAP12.19
25MacrodactylyEnrichmentPIK3CA2.17
26Proteus syndromeEnrichmentAKT12.17
27Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS12.17
28Charcot-marie-tooth disease, axonal, type 2a1EnrichmentKIF1B2.17
29Deafness, congenital, with onychodystrophy, autosomal dominantEnrichmentATP6V1B22.17
30Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.17
31Vacterl association with hydrocephalusEnrichmentPTEN2.17
32Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR22.17
33Megalencephaly, autosomal dominantEnrichmentPIK3CA2.17
34Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP12.17
35Infantile liver failure syndrome 1EnrichmentLARS12.17
36Cowden syndrome 5EnrichmentPIK3CA2.17
37Neuroblastoma 1EnrichmentKIF1B2.17
38Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.17
39Accelerated tumor formationEnrichmentMDM22.17
40Pseudohypoaldosteronism, type iibEnrichmentWNK42.17
41Cerebral cavernous malformations 4EnrichmentPIK3CA2.17
42Lessel-kubisch syndromeEnrichmentMDM22.17
43Short syndromeEnrichmentPIK3R12.17
44Pseudohypoaldosteronism, type iicEnrichmentWNK12.17
45Oculoskeletodental syndromeEnrichmentPIK3C2A2.17
46Spastic paraplegia 15, autosomal recessiveEnrichmentZFYVE262.17
47Papillary tumor of the pineal regionEnrichmentPTEN2.17
48Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP12.17
49Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.17
50Hemifacial myohyperplasiaEnrichmentPIK3CA2.17
51Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.17
52Parkinson disease 7, autosomal recessive early-onsetEnrichmentPARK72.17
53Charcot-marie-tooth disease type 2a1EnrichmentKIF1B2.17
54Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.17
55Zimmermann-laband syndrome 2EnrichmentATP6V1B22.17
56Cowden syndrome 6EnrichmentAKT12.17
57Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.17
58Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.17
59Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.17
60Glioma susceptibility 2EnrichmentPTEN2.17
61Lopes-maciel-rodan syndromeEnrichmentHTT2.17
62Spastic paraplegia 84, autosomal recessiveEnrichmentPI4KA2.17
63Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.17
64HypospadiasEnrichmentPIK3CA2.17
65Capillary hemangiomaEnrichmentAKT32.17
66Non-acquired combined pituitary hormone deficiencyEnrichmentFOXA22.17
67Rare venous malformationEnrichmentPIK3CA2.17
68Diaphragmatic eventrationEnrichmentPIK3CA2.17
69Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.17
70Autosomal dominant deafness - onychodystrophy syndromeEnrichmentATP6V1B22.17
71Rare combined vascular malformationEnrichmentPIK3CA2.17
72Gastrointestinal defects and immunodeficiency syndrome 2EnrichmentPI4KA2.17
73Cavernous lymphangiomaEnrichmentPIK3CA2.17
74Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.17
75Juvenile huntington diseaseEnrichmentHTT2.17
76Oculocerebrodental syndromeEnrichmentPIK3C2A2.17
77Isolated megalencephalyEnrichmentTBC1D72.17
78Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR22.17
79Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.17
80Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB102.17
81Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.17
82Eccrine angiomatous hamartomaEnrichmentPIK3CA2.17
83Macrodactyly of toeEnrichmentPIK3CA2.17
84Pi4ka-related disorderEnrichmentPI4KA2.17
85Akt2-related familial partial lipodystrophyEnrichmentAKT22.17
86Diffuse large b-cell lymphomaEnrichmentFOXO1, PTEN2.14
87Endometrial cancerEnrichmentPIK3CA, PTEN2.06
88Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1EnrichmentPARK71.87
89Schneckenbecken dysplasiaEnrichmentINPPL11.87
90Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.87
91Keratosis, seborrheicEnrichmentPIK3CA1.87
92Roifman-chitayat syndromeEnrichmentPIK3CD1.87
93Developmental and epileptic encephalopathy 50EnrichmentCAD1.87
94Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalitiesEnrichmentPI4KA1.87
95Noonan syndrome 8EnrichmentPIK3CA1.87
96Charcot-marie-tooth disease, demyelinating, type 4dEnrichmentNDRG11.87
97Senior-loken syndrome 7EnrichmentAKT31.87
98Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.87
99Immune system diseaseEnrichmentPIK3CD1.87
100Bardet-biedl syndrome 16EnrichmentAKT31.87
101Combined immunodeficiency-multiple intestinal atresiaEnrichmentPI4KA1.87
102Charcot-marie-tooth disease type 4dEnrichmentNDRG11.87
103Vacterl with hydrocephalusEnrichmentPTEN1.87
104Juvenile polyposis of infancyEnrichmentPTEN1.87
105Breast cancerEnrichmentAKT1, PIK3CA, PTEN1.84
106Prostate cancerEnrichmentPIK3CA, PTEN1.79
107Zimmermann-laband syndrome 1EnrichmentATP6V1B21.69
108OpsismodysplasiaEnrichmentINPPL11.69
109Pompe disease, infantile-onsetEnrichmentPIK3CA1.69
110Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.69
111Heparin cofactor ii deficiencyEnrichmentPI4KA1.69
112Leber congenital amaurosis 13EnrichmentZFYVE261.69
113Tuberous sclerosis 2EnrichmentTSC21.69
114Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentATP6V1B21.69
115Macrocephaly/megalencephaly syndrome, autosomal recessiveEnrichmentTBC1D71.69
116Epilepsy, familial focal, with variable foci 2EnrichmentNPRL21.69
117Dedifferentiated liposarcomaEnrichmentMDM21.69
118Xanthinuria, type iiEnrichmentTSC21.69
119Laryngeal squamous cell carcinomaEnrichmentPTEN1.69
120Well-differentiated liposarcomaEnrichmentMDM21.69
121KeratoacanthomaEnrichmentPIK3CA1.69
122Huntington diseaseEnrichmentHTT1.57
123Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentWNK11.57
124Macular dystrophy with or without cone dysfunctionEnrichmentZFYVE261.57
125Hereditary sensory and autonomic neuropathy type 2EnrichmentWNK11.57
126Cerebrovascular diseaseEnrichmentPIK3CA1.57
127Newborn respiratory distress syndromeEnrichmentNPRL21.57
128Idiopathic achalasiaEnrichmentNOS11.57
129Familial cerebral cavernous malformationsEnrichmentPIK3CA1.57
130GliomaEnrichmentPTEN1.57
131Pseudomyogenic hemangioendotheliomaEnrichmentWWTR11.57
132Capillary malformations, congenitalEnrichmentPIK3CA1.48
133Alzheimer disease 2EnrichmentNOS31.48
134Multiple endocrine neoplasia, type iiaEnrichmentKIF1B1.48
135Rhabdomyosarcoma 2EnrichmentFOXO11.48
136Macrocephaly/autism syndromeEnrichmentPTEN1.48
137Major depressive disorderEnrichmentFKBP51.48
138Liver failure, infantile, transientEnrichmentLARS11.48
139Pre-eclampsiaEnrichmentNOS31.48
140HemangiomaEnrichmentPTEN1.48
141Acute megakaryocytic leukemiaEnrichmentPTEN1.48
142Gastric cancerEnrichmentPIK3CA, PTEN1.46
143Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.40
144Li-fraumeni syndromeEnrichmentMDM21.40
145Hemihyperplasia, isolatedEnrichmentPIK3CA1.40
146Parkinson disease 6, autosomal recessive early-onsetEnrichmentPARK71.40
147KeratoconusEnrichmentTSC11.40
148Lung squamous cell carcinomaEnrichmentPIK3CA1.40
149Nevus, epidermalEnrichmentPIK3CA1.33
150Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.33
151Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.33
152Squamous cell carcinoma, head and neckEnrichmentPTEN1.33
153Epilepsy, familial focal, with variable foci 1EnrichmentNPRL21.33
154Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.33
155Leukoencephalopathy, brain calcifications, and cystsEnrichmentBORCS61.33
156Polycystic kidney disease 1EnrichmentTSC21.33
157Gallbladder cancerEnrichmentPIK3CA1.33
158MegacolonEnrichmentAKT31.33
159Follicular thyroid carcinomaEnrichmentPTEN1.33
160Overgrowth syndromeEnrichmentPIK3R11.33
161NeuroblastomaEnrichmentKIF1B1.28
162Combined pituitary hormone deficiencyEnrichmentFOXA21.28
163Arteriovenous malformationEnrichmentPIK3CA1.23
164Bilateral perisylvian polymicrogyriaEnrichmentPI4KA1.23
165Inherited cancer-predisposing syndromeEnrichmentPTEN, TSC1, TSC21.22
166Stroke, ischemicEnrichmentNOS31.18
167Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.18
168PolymicrogyriaEnrichmentAKT31.18
169MelanomaEnrichmentPTEN1.18
170AsthmaEnrichmentFKBP51.14
171Meningioma, familialEnrichmentPTEN1.14
172Lung non-small cell carcinomaEnrichmentPIK3CA1.14
173Uterine corpus cancerEnrichmentPTEN1.14
174Early-onset parkinson's diseaseEnrichmentPARK71.11
175Lip and oral cavity carcinomaEnrichmentPIK3CA1.11
176Microphthalmia/coloboma 12EnrichmentYAP11.07
177Nk-cell enteropathyEnrichmentPIK3CB1.07
178Coloboma of maculaEnrichmentYAP11.01
179Lynch syndromeEnrichmentPIK3CA1.01
180Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.01
181Kidney diseaseEnrichmentTSC11.01
182RhabdomyosarcomaEnrichmentPTEN0.99
183Alzheimer disease, familial, 1EnrichmentNOS30.96
184Hypertension, essentialEnrichmentNOS30.96
185Charcot-marie-tooth disease type 4EnrichmentNDRG10.94
186Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentKIF1B0.88
187Hepatocellular carcinomaEnrichmentPIK3CA0.86
188Precursor t-cell acute lymphoblastic leukemiaEnrichmentTCL1A0.84
189Developmental and epileptic encephalopathy 1EnrichmentCAD0.81
190Congenital nervous system abnormalityEnrichmentPTEN, TSC20.79
191Nervous system diseaseEnrichmentPTEN, TSC20.79
192Autism spectrum disorderEnrichmentPTEN, TSC20.77
193Lung cancerEnrichmentPIK3CA0.71
194Eye diseaseEnrichmentZFYVE260.67
195Charcot-marie-tooth diseaseEnrichmentNDRG10.61
196Type 2 diabetes mellitusEnrichmentAKT20.60
197Hereditary spastic paraplegiaEnrichmentZFYVE260.60
198West syndromeEnrichmentTSC20.59
199Autosomal dominant non-syndromic intellectual disabilityEnrichmentDPYSL20.54
200HypertelorismEnrichmentPIK3CA0.53
201Hereditary breast ovarian cancer syndromeEnrichmentPTEN0.50
202Primary ovarian insufficiencyEnrichmentNOS30.48
203Leber plus diseaseEnrichmentZFYVE260.32
204Complex neurodevelopmental disorderEnrichmentHTT0.24
205Retinitis pigmentosaEnrichmentZFYVE260.12
206Hereditary retinal dystrophyEnrichmentZFYVE260.06
207Fundus dystrophyEnrichmentZFYVE260.06

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