mTOR Pathway

No Pathway Network information available for mTOR Pathway

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

Disorders associated with mTOR Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, RHEB9.37
2Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA8.78
3Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS, PIK3CA7.82
4Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS7.13
5Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R27.13
6Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA6.43
7Colorectal cancerEnrichmentAKT1, PIK3CA, PIK3R1, PPARG, TP535.17
8Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR25.14
9Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS5.14
10Lynch syndromeEnrichmentKRAS, PIK3CA, TGFBR25.08
11Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS5.08
12Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.66
13Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.66
14Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.66
15Loeys-dietz syndrome 1EnrichmentTGFBR1, TGFBR24.66
16Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.66
17Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS4.50
18Hepatocellular carcinomaEnrichmentIGF2R, PIK3CA, TP534.39
19Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.36
20Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS4.36
21RasopathyEnrichmentHRAS, KRAS, NRAS4.33
22Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB4.25
23Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB4.25
24Bladder cancerEnrichmentHRAS, KRAS, PIK3CA4.19
25Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS4.19
26Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA3.97
27Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS3.82
28Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA3.82
29Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.82
30Noonan syndrome 3EnrichmentHRAS, KRAS3.82
31Gallbladder cancerEnrichmentKRAS, PIK3CA3.82
32Follicular thyroid carcinomaEnrichmentHRAS, NRAS3.82
33Overgrowth syndromeEnrichmentMTOR, PIK3R13.82
34Ovarian cancerEnrichmentAKT1, BMPR1A, KRAS, PIK3CA3.80
35Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS3.70
36Hereditary breast carcinomaEnrichmentAKT1, KRAS, PIK3CA3.64
37Loeys-dietz syndromeEnrichmentTGFBR1, TGFBR23.59
38Arteriovenous malformationEnrichmentHRAS, PIK3CA3.59
39Cowden syndromeEnrichmentAKT1, PIK3CA3.59
40Type 2 diabetes mellitusEnrichmentAKT2, INSR, PPARG3.54
41Marfan syndromeEnrichmentTGFBR1, TGFBR23.49
42Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA3.49
43Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.49
44Adult hepatocellular carcinomaEnrichmentPIK3CA, TP533.48
45Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS3.33
46MeningiomaEnrichmentAKT1, PIK3CA3.33
47Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.33
48Nk-cell enteropathyEnrichmentIGF1R, PIK3CB3.15
49GliosarcomaEnrichmentPPARG, TP532.96
50Breast cancerEnrichmentAKT1, KRAS, PIK3CA2.96
51Giant cell glioblastomaEnrichmentPPARG, TP532.91
52Pancreatic cancerEnrichmentACVR1B, KRAS2.68
53MacrodactylyEnrichmentPIK3CA2.56
54Proteus syndromeEnrichmentAKT12.56
55Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.56
56Oculoectodermal syndromeEnrichmentKRAS2.56
57Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A2.56
58Acromesomelic dysplasia 3EnrichmentBMPR1B2.56
59Megalencephaly, autosomal dominantEnrichmentPIK3CA2.56
60Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.56
61Cowden syndrome 5EnrichmentPIK3CA2.56
62Melanosis, neurocutaneousEnrichmentNRAS2.56
63Noonan syndrome 6EnrichmentNRAS2.56
64Brachydactyly, type a1, dEnrichmentBMPR1B2.56
65Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.56
66Cerebral cavernous malformations 4EnrichmentPIK3CA2.56
67Short syndromeEnrichmentPIK3R12.56
68Oculoskeletodental syndromeEnrichmentPIK3C2A2.56
69Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.56
70Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.56
71Hemifacial myohyperplasiaEnrichmentPIK3CA2.56
72Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.56
73Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.56
74Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.56
75Cowden syndrome 6EnrichmentAKT12.56
76Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.56
77Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.56
78Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.56
79Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.56
80HypospadiasEnrichmentPIK3CA2.56
81Capillary hemangiomaEnrichmentAKT32.56
82Congenital pulmonary airway malformationEnrichmentKRAS2.56
83Rare venous malformationEnrichmentPIK3CA2.56
84Diaphragmatic eventrationEnrichmentPIK3CA2.56
85Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.56
86Rare combined vascular malformationEnrichmentPIK3CA2.56
87Cavernous lymphangiomaEnrichmentPIK3CA2.56
88Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.56
89Oculocerebrodental syndromeEnrichmentPIK3C2A2.56
90Phakomatosis pigmentokeratoticaEnrichmentHRAS2.56
91Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.56
92Eccrine angiomatous hamartomaEnrichmentPIK3CA2.56
93Macrodactyly of toeEnrichmentPIK3CA2.56
94Neurocutaneous melanocytosisEnrichmentNRAS2.56
95Akt2-related familial partial lipodystrophyEnrichmentAKT22.56
96Donohue syndromeEnrichmentINSR2.51
97Coffin-lowry syndromeEnrichmentRPS6KA32.51
98Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.51
99Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.51
100Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.51
101Bone marrow failure syndrome 5EnrichmentTP532.51
102Papilloma of choroid plexusEnrichmentTP532.51
103Basal cell carcinoma 7EnrichmentTP532.51
104Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.51
105Anaplastic thyroid carcinomaEnrichmentTP532.51
106Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG22.51
107Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG22.51
108Ductal carcinoma in situEnrichmentTP532.51
109Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG32.51
110Thyroid gland undifferentiated carcinomaEnrichmentTP532.51
111Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.51
112Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.51
113Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.51
114Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.51
115Choroid plexus cancerEnrichmentTP532.51
116Pleomorphic xanthoastrocytomaEnrichmentTP532.51
117Non-immune hydrops fetalisEnrichmentHRAS, KRAS2.49
118Lung cancerEnrichmentKRAS, PIK3CA2.47
119Prostate cancerEnrichmentPIK3CA, TP532.44
120Leukemia, acute myeloidEnrichmentKRAS, NRAS2.28
121Costello syndromeEnrichmentHRAS2.26
122Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.26
123Microvascular complications of diabetes 5EnrichmentTGFBR22.26
124Keratosis, seborrheicEnrichmentPIK3CA2.26
125Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.26
126Roifman-chitayat syndromeEnrichmentPIK3CD2.26
127Fibrodysplasia ossificans progressivaEnrichmentACVR12.26
128Noonan syndrome 8EnrichmentPIK3CA2.26
129Spermatogenic failure 17EnrichmentPIK3C2G2.26
130Cebalid syndromeEnrichmentMTOR2.26
131Senior-loken syndrome 7EnrichmentAKT32.26
132Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.26
133Immune system diseaseEnrichmentPIK3CD2.26
134Bardet-biedl syndrome 16EnrichmentAKT32.26
135Smith-kingsmore syndromeEnrichmentMTOR2.26
136Hereditary mixed polyposis syndromeEnrichmentBMPR1A2.26
137Houge-janssens syndrome 3EnrichmentPPP2CA2.26
138Juvenile polyposis of infancyEnrichmentBMPR1A2.26
139Wooly hair nevusEnrichmentHRAS2.26
140Gastric cancerEnrichmentKRAS, PIK3CA2.22
141Adrenocortical carcinoma, hereditaryEnrichmentTP532.21
142Carotid intimal medial thickness 1EnrichmentPPARG2.21
143Cervical cancerEnrichmentTP532.21
144Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR2.21
145Lymphoma, hodgkin, classicEnrichmentTP532.21
146Congenital fibrosarcomaEnrichmentTP532.21
147Li-fraumeni syndrome 1EnrichmentTP532.21
148SarcomaEnrichmentTP532.21
149Cervix carcinomaEnrichmentTP532.21
150Hodgkin's lymphomaEnrichmentTP532.21
151Familial partial lipodystrophyEnrichmentPPARG2.21
152Pleomorphic rhabdomyosarcomaEnrichmentTP532.21
153Familial thoracic aortic aneurysm and aortic dissectionEnrichmentTGFBR1, TGFBR22.20
154Brachydactyly, type a1EnrichmentBMPR1B2.09
155Brachydactyly, type cEnrichmentBMPR1B2.09
156Juvenile polyposis syndromeEnrichmentBMPR1A2.09
157Acromesomelic dysplasia 2aEnrichmentBMPR1B2.09
158Acromesomelic dysplasia 2cEnrichmentBMPR1B2.09
159Acromesomelic dysplasia 2bEnrichmentBMPR1B2.09
160Pompe disease, infantile-onsetEnrichmentPIK3CA2.09
161Langerhans cell histiocytosisEnrichmentNRAS2.09
162Transposition of the great arteries, dextro-loopedEnrichmentACVR1B2.09
163SpermatocytomaEnrichmentHRAS2.09
164KeratoacanthomaEnrichmentPIK3CA2.09
165Osteogenic sarcomaEnrichmentTP532.03
166Nasopharyngeal carcinomaEnrichmentTP532.03
167Atypical teratoid rhabdoid tumorEnrichmentTP532.03
168Anaplastic astrocytomaEnrichmentTP532.03
169Squamous cell carcinomaEnrichmentTP532.03
170AdenocarcinomaEnrichmentTP532.03
171Bone osteosarcomaEnrichmentTP532.03
172Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R2.03
173Myeloma, multipleEnrichmentKRAS, PIK3R21.99
174Brachydactyly, type a2EnrichmentBMPR1B1.96
175Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.96
176Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.96
177Cardiofaciocutaneous syndromeEnrichmentKRAS1.96
178Lung sarcomatoid carcinomaEnrichmentKRAS1.96
179Cerebrovascular diseaseEnrichmentPIK3CA1.96
180Aortic aneurysmEnrichmentTGFBR11.96
181Pilocytic astrocytomaEnrichmentKRAS1.96
182Epidermolytic nevusEnrichmentHRAS1.96
183Familial cerebral cavernous malformationsEnrichmentPIK3CA1.96
184HypertelorismEnrichmentPIK3CA, RPS6KA31.95
185Small cell cancer of the lungEnrichmentTP531.91
186Thyroid cancer, nonmedullary, 1EnrichmentTP531.91
187Lipodystrophy, familial partial, type 3EnrichmentPPARG1.91
188Leptin deficiency or dysfunctionEnrichmentPPARG1.91
189Congenital generalized lipodystrophyEnrichmentPPARG1.91
190Embryonal rhabdomyosarcomaEnrichmentTP531.91
191Capillary malformations, congenitalEnrichmentPIK3CA1.87
192Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A1.87
193Familial cerebral saccular aneurysmEnrichmentTGFBR31.87
194Rhabdomyosarcoma 2EnrichmentTP531.81
195Insulin-like growth factor iEnrichmentIGF1R1.81
196LymphomaEnrichmentTP531.81
197Acute megakaryocytic leukemiaEnrichmentTP531.81
198Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.79
199Cowden syndrome 1EnrichmentPIK3CA1.79
200Hemihyperplasia, isolatedEnrichmentPIK3CA1.79
201Classic ehlers-danlos syndromeEnrichmentTGFBR11.79
202Li-fraumeni syndromeEnrichmentTP531.73
203Adrenocortical carcinomaEnrichmentTP531.73
20446,xy disorder of sex developmentEnrichmentINSR1.73
205Esophageal cancerEnrichmentTGFBR21.72
206Renal cell carcinoma, papillary, 1EnrichmentMTOR1.72
207Pilomyxoid astrocytomaEnrichmentKRAS1.72
208MegacolonEnrichmentAKT31.72
209Squamous cell carcinoma, head and neckEnrichmentTP531.67
210Essential thrombocythemiaEnrichmentTP531.67
211B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.67
212Lennox-gastaut syndromeEnrichmentMAPK101.67
213Glioma susceptibility 1EnrichmentTP531.61
214Gastroesophageal refluxEnrichmentRPS6KA31.61
215Lymphoma, non-hodgkin, familialEnrichmentTP531.61
216Orthostatic intoleranceEnrichmentRPS6KA31.61
217PolymicrogyriaEnrichmentAKT31.57
218Primary hyperaldosteronismEnrichmentTP531.56
219Ventricular septal defectEnrichmentRPS6KA31.56
220Pectus excavatumEnrichmentTGFBR11.53
221Familial colorectal cancer type xEnrichmentBMPR1A1.53
222Leukemia, chronic lymphocyticEnrichmentTP531.52
223Familial colorectal cancerEnrichmentTP531.52
224EpicanthusEnrichmentACVR11.49
225Myelodysplastic syndromeEnrichmentTP531.47
226Specific learning disabilityEnrichmentRPS6KA31.47
227Protein-deficiency anemiaEnrichmentNRAS1.46
228Lung cancer susceptibility 3EnrichmentKRAS1.43
229Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.40
230Rare genetic intellectual disabilityEnrichmentMTOR1.40
231RhabdomyosarcomaEnrichmentHRAS1.37
232Wolff-parkinson-white syndromeEnrichmentPRKAG21.31
233Arteriovenous malformations of the brainEnrichmentKRAS1.30
234Ehlers-danlos syndromeEnrichmentTGFBR21.30
235Endometrial cancerEnrichmentPIK3CA1.25
236Diffuse large b-cell lymphomaEnrichmentTP531.24
237HepatoblastomaEnrichmentTP531.20
238Hydrops fetalis, nonimmuneEnrichmentHRAS1.16
239Diamond-blackfan anemia 1EnrichmentTP531.16
240Connective tissue diseaseEnrichmentTGFBR21.08
241Familial hypertrophic cardiomyopathyEnrichmentPRKAG21.01
242Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.98
243Diamond-blackfan anemiaEnrichmentTP530.98
244Hypertrophic cardiomyopathyEnrichmentPRKAG20.90
245Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.85
246Body mass index quantitative trait locus 11EnrichmentPPARG0.84
247Primary ovarian insufficiencyEnrichmentIGF2R0.78
248Complex neurodevelopmental disorderEnrichmentPPP2CA0.54
249Inherited cancer-predisposing syndromeEnrichmentBMPR1A0.52
250MicrocephalyEnrichmentIGF1R0.50

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