PTEN Regulation

Pathway network for the PTEN Regulation SuperPath

Sources:
  • Reactome

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

Disorders associated with PTEN Regulation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1HemimegalencephalyEnrichmentAKT3, MTOR, PTEN, RHEB7.45
2Weaver syndromeEnrichmentEZH2, SUZ124.23
3Vacterl association with hydrocephalusEnrichmentPTEN4.13
4Papillary tumor of the pineal regionEnrichmentPTEN4.13
5Glioma susceptibility 2EnrichmentPTEN4.13
6Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN4.13
7Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB3.93
8Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB3.93
9Vacterl with hydrocephalusEnrichmentPTEN3.83
10Juvenile polyposis of infancyEnrichmentPTEN3.83
11Laryngeal squamous cell carcinomaEnrichmentPTEN3.66
12GliomaEnrichmentPTEN3.53
13Macrocephaly/autism syndromeEnrichmentPTEN3.43
14HemangiomaEnrichmentPTEN3.43
15Acute megakaryocytic leukemiaEnrichmentPTEN3.43
16Cowden syndrome 1EnrichmentPTEN3.35
17Thyroid cancer, nonmedullary, 2EnrichmentPTEN3.29
18Squamous cell carcinoma, head and neckEnrichmentPTEN3.29
19Follicular thyroid carcinomaEnrichmentPTEN3.29
20Cowden syndromeEnrichmentPTEN3.18
21MelanomaEnrichmentPTEN3.13
22Meningioma, familialEnrichmentPTEN3.09
23Uterine corpus cancerEnrichmentPTEN3.09
24MeningiomaEnrichmentPTEN3.05
25Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, CSNK2A1, PSMD12, RNF2, TNRC6B2.98
26Hao-fountain syndromeEnrichmentUSP72.93
27Submucosal cleft palateEnrichmentUBB2.93
28Cleft hard palateEnrichmentUBB2.93
29RhabdomyosarcomaEnrichmentPTEN2.93
30Breast adenocarcinomaEnrichmentAKT1, TP532.90
31Diffuse large b-cell lymphomaEnrichmentPTEN2.85
32Endometrial cancerEnrichmentPTEN2.81
33Uvula, bifidEnrichmentUBB2.75
34Cleft soft palateEnrichmentUBB2.75
35Bladder cancerEnrichmentPTEN2.67
36Prostate cancerEnrichmentPTEN2.67
37GliosarcomaEnrichmentPPARG, TP532.64
38Giant cell glioblastomaEnrichmentPPARG, TP532.59
39Gastric cancerEnrichmentPTEN2.50
40Hereditary breast carcinomaEnrichmentPTEN2.49
41Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, EED, PTEN, TNRC6B2.46
42PolymicrogyriaEnrichmentAKT3, PSMC32.44
43Hereditary breast ovarian cancer syndromeEnrichmentPTEN2.39
44Spermatogenic failure, x-linked, 9EnrichmentRBBP72.35
45Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR22.35
4646,xy sex reversal 5EnrichmentCBX22.35
47Ivic syndromeEnrichmentSALL42.35
48Gand syndromeEnrichmentGATAD2B2.35
49Microcephaly 11, primary, autosomal recessiveEnrichmentPHC12.35
50Wilms tumor 6EnrichmentREST2.35
51Congenital hypotonia, epilepsy, developmental delay, and digital anomaliesEnrichmentATN12.35
52Luo-schoch-yamamoto syndromeEnrichmentRNF22.35
53Noonan syndrome 13EnrichmentMAPK12.35
54Bone marrow failure syndrome 5EnrichmentTP532.35
55Papilloma of choroid plexusEnrichmentTP532.35
56Basal cell carcinoma 7EnrichmentTP532.35
57Imagawa-matsumoto syndromeEnrichmentSUZ122.35
58Anaplastic thyroid carcinomaEnrichmentTP532.35
59Radioulnar synostosis with amegakaryocytic thrombocytopenia 2EnrichmentMECOM2.35
60Deafness, autosomal dominant 27EnrichmentREST2.35
61Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A2.35
62Ductal carcinoma in situEnrichmentTP532.35
63Fibromatosis, gingival, 5EnrichmentREST2.35
64Cohen-gibson syndromeEnrichmentEED2.35
65Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B2.35
66Thyroid gland undifferentiated carcinomaEnrichmentTP532.35
67Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.35
68Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.35
69Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A2.35
70Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.35
71Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A2.35
72Choroid plexus cancerEnrichmentTP532.35
73Pleomorphic xanthoastrocytomaEnrichmentTP532.35
74Sall4-related disordersEnrichmentSALL42.35
75Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR22.35
76Tubular renal disease-cardiomyopathy syndromeEnrichmentRRAGD2.35
77Breast cancerEnrichmentAKT1, JUN, PTEN, TP532.28
78Ovarian cancerEnrichmentPTEN2.13
79Acute promyelocytic leukemiaEnrichmentPML2.12
80Congenital nervous system abnormalityEnrichmentPTEN2.11
81Nervous system diseaseEnrichmentPTEN2.11
82Fibromatosis, gingival, 1EnrichmentREST2.05
83Dentatorubral-pallidoluysian atrophyEnrichmentATN12.05
84Adrenocortical carcinoma, hereditaryEnrichmentTP532.05
85Carotid intimal medial thickness 1EnrichmentPPARG2.05
86Cervical cancerEnrichmentTP532.05
87Piebald traitEnrichmentSNAI22.05
88Duane-radial ray syndromeEnrichmentSALL42.05
89Sifrim-hitz-weiss syndromeEnrichmentCHD42.05
90Lymphoma, hodgkin, classicEnrichmentTP532.05
91Hypomagnesemia 7, renal, with or without dilated cardiomyopathyEnrichmentRRAGD2.05
92Snijders blok-campeau syndromeEnrichmentCHD32.05
93Cebalid syndromeEnrichmentMTOR2.05
94Congenital fibrosarcomaEnrichmentTP532.05
95Li-fraumeni syndrome 1EnrichmentTP532.05
96SarcomaEnrichmentTP532.05
97Cervix carcinomaEnrichmentTP532.05
98Hodgkin's lymphomaEnrichmentTP532.05
99Smith-kingsmore syndromeEnrichmentMTOR2.05
100Radioulnar synostosisEnrichmentMECOM2.05
101Long-olsen-distelmaier syndromeEnrichmentRRAGC2.05
102Familial partial lipodystrophyEnrichmentPPARG2.05
103Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentMECOM2.05
104Pleomorphic rhabdomyosarcomaEnrichmentTP532.05
105Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeEnrichmentMECOM2.05
106Proteus syndromeEnrichmentAKT12.03
107Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.03
108Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B2.03
109Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB12.03
110Stankiewicz-isidor syndromeEnrichmentPSMD122.03
111Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC32.03
112Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.03
113Cowden syndrome 6EnrichmentAKT12.03
114Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A2.03
115Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.03
116Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.03
117Capillary hemangiomaEnrichmentAKT32.03
118Akt2-related familial partial lipodystrophyEnrichmentAKT22.03
119Inherited cancer-predisposing syndromeEnrichmentPTEN2.01
120Osteogenic sarcomaEnrichmentTP531.87
121Nasopharyngeal carcinomaEnrichmentTP531.87
122Atypical teratoid rhabdoid tumorEnrichmentTP531.87
123Anaplastic astrocytomaEnrichmentTP531.87
124Squamous cell carcinomaEnrichmentTP531.87
125AdenocarcinomaEnrichmentTP531.87
126Duane retraction syndromeEnrichmentSALL41.87
127Bone osteosarcomaEnrichmentTP531.87
128Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.87
129Small cell cancer of the lungEnrichmentTP531.75
130Thyroid cancer, nonmedullary, 1EnrichmentTP531.75
131Lipodystrophy, familial partial, type 3EnrichmentPPARG1.75
132Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.75
133Leptin deficiency or dysfunctionEnrichmentPPARG1.75
134Congenital generalized lipodystrophyEnrichmentPPARG1.75
135Lung sarcomatoid carcinomaEnrichmentTP531.75
136Embryonal rhabdomyosarcomaEnrichmentTP531.75
137Gingival fibromatosisEnrichmentREST1.75
138Premature ovarian failure 3EnrichmentAGO21.73
139Birk-aharoni syndromeEnrichmentPSMC11.73
140Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.73
141Spondyloepiphyseal dysplasia, nishimura typeEnrichmentWWP21.73
142Spinocerebellar ataxia 48EnrichmentSTUB11.73
143Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.73
144Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.73
145Senior-loken syndrome 7EnrichmentAKT31.73
146Bardet-biedl syndrome 16EnrichmentAKT31.73
14717q24.2 microdeletion syndromeEnrichmentPSMD121.73
148Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentSALL41.65
149Rhabdomyosarcoma 2EnrichmentTP531.65
150LymphomaEnrichmentTP531.65
151Endometrial stromal sarcomaEnrichmentSUZ121.65
152Dyskeratosis congenita, autosomal dominant 1EnrichmentMECOM1.57
153Li-fraumeni syndromeEnrichmentTP531.57
154Adrenocortical carcinomaEnrichmentTP531.57
155Prognathism, mandibularEnrichmentCSNK2B1.56
156Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.56
157Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.56
158Lessel-kreienkamp syndromeEnrichmentAGO21.56
159Thyroid hemiagenesisEnrichmentPSMD31.56
160Differentiated thyroid carcinomaEnrichmentPPARG, TRIM271.53
161Esophageal cancerEnrichmentTP531.51
162Waardenburg syndrome, type 2eEnrichmentSNAI21.51
163Renal cell carcinoma, papillary, 1EnrichmentMTOR1.51
164Dyskeratosis congenita, autosomal dominant 2EnrichmentMECOM1.51
165Essential thrombocythemiaEnrichmentTP531.51
166Gallbladder cancerEnrichmentTP531.51
167Overgrowth syndromeEnrichmentMTOR1.51
168B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.51
169Glioma susceptibility 1EnrichmentTP531.45
170Lymphoma, non-hodgkin, familialEnrichmentTP531.45
171Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT31.44
172Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.44
173EnophthalmosEnrichmentCSNK2B1.44
174SyndactylyEnrichmentCSNK2B1.44
175Adult hepatocellular carcinomaEnrichmentTP531.40
176Primary hyperaldosteronismEnrichmentTP531.40
177Leukemia, chronic lymphocyticEnrichmentTP531.36
178Familial colorectal cancerEnrichmentTP531.36
179Colorectal cancerEnrichmentAKT1, PPARG, TP531.33
180Myelodysplastic syndromeEnrichmentTP531.32
18146,xy complete gonadal dysgenesisEnrichmentCBX21.32
182Specific learning disabilityEnrichmentMAPK11.32
183Lip and oral cavity carcinomaEnrichmentTP531.28
184Developmental dysplasia of the hip 1EnrichmentPSMC31.26
185Spinocerebellar ataxia, autosomal recessive 16EnrichmentSTUB11.26
186Patent ductus arteriosusEnrichmentPSMC31.26
187Type 2 diabetes mellitusEnrichmentAKT2, PPARG1.24
188Lung cancer susceptibility 3EnrichmentTP531.21
189MegacolonEnrichmentAKT31.20
190Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.18
191Wilms tumor 1EnrichmentREST1.18
192Rare genetic intellectual disabilityEnrichmentMTOR1.18
193Isolated congenital microcephalyEnrichmentPHC11.16
194Isolated split hand-split foot malformationEnrichmentSEM11.14
195Heart, malformation ofEnrichmentMAPK11.11
196Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentTNRC6B1.09
197HepatoblastomaEnrichmentTP531.04
198Hepatocellular carcinomaEnrichmentTP531.02
199Diamond-blackfan anemia 1EnrichmentTP531.01
200Pancreatic cancerEnrichmentTP530.97
201Primary autosomal recessive microcephalyEnrichmentPHC10.87
202Diamond-blackfan anemiaEnrichmentTP530.82
203Patent foramen ovaleEnrichmentPSMC30.81
204Arteriovenous malformations of the brainEnrichmentPREX20.79
205Leukemia, acute myeloidEnrichmentTP530.78
206Myocardial infarctionEnrichmentPSMA60.73
207ThrombocytopeniaEnrichmentMECOM0.71
208Joubert syndrome 1EnrichmentRCOR10.69
209Body mass index quantitative trait locus 11EnrichmentPPARG0.69
210Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentREST0.68
211Myeloma, multipleEnrichmentTP530.65
212Primary ovarian insufficiencyEnrichmentMECOM0.63
213MicrocephalyEnrichmentMAPK1, PSMC30.50
214Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B0.43

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