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MCID: ANG018
MIFTS: 50

Angiomyolipoma

Categories: Cancer diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Angiomyolipoma

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MalaCards integrated aliases for Angiomyolipoma:

Name: Angiomyolipoma 12 56 45 15 74
Angiomyolipoma of Kidney 74

Classifications:

MalaCards categories:
Global: Cancer diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:3314
MeSH 45 D018207
NCIt 51 C3734
SNOMED-CT 69 19929002
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Summaries for Angiomyolipoma

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Disease Ontology : 12 A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.

MalaCards based summary : Angiomyolipoma, also known as angiomyolipoma of kidney, is related to kidney angiomyolipoma and hepatic angiomyolipoma. An important gene associated with Angiomyolipoma is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are ERK Signaling and Pathways in cancer. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related phenotypes are cellular and behavior/neurological

Wikipedia : 77 Angiomyolipomas are the most common benign tumour of the kidney. Although regarded as benign,... more...

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Related Diseases for Angiomyolipoma

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Diseases related to Angiomyolipoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 261)
# Related Disease Score Top Affiliating Genes
1 kidney angiomyolipoma 34.0 MTOR TSC1 TSC2
2 hepatic angiomyolipoma 33.3 KIT MTOR TSC2
3 tuberous sclerosis 1 32.2 CCL26 MTOR TSC1 TSC2
4 tuberous sclerosis 2 32.1 MTOR TSC1 TSC2
5 tuberous sclerosis 31.0 CCL26 MTOR TSC1 TSC2 VIM
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.5 CCL26 TSC1 TSC2
7 subependymal giant cell astrocytoma 30.5 MTOR TSC1 TSC2
8 lymphangioleiomyomatosis 30.2 DES ESR1 MTOR PGR TSC1 TSC2
9 lymphangiectasis 30.2 ACTC1 VIM
10 renal cell carcinoma, nonpapillary 30.0 KIT MITF MTOR TSC1 TSC2 VIM
11 autosomal dominant polycystic kidney disease 29.8 MTOR TSC1 TSC2
12 renal cell carcinoma, papillary, 1 29.8 KIT MITF MTOR
13 cavernous hemangioma 29.7 DES KIT VIM
14 sarcoma, synovial 29.5 DES KIT VIM
15 gastrointestinal stromal tumor 29.2 ACTC1 DES KIT VIM
16 cystic nephroma 29.1 DES KIT PGR VIM
17 perivascular epithelioid cell tumor 29.1 ACTC1 DES KIT PGR TSC2 VIM
18 childhood kidney angiomyolipoma 12.1
19 epithelioid type angiomyolipoma 12.1
20 multiple endocrine neoplasia, type i 11.1
21 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.1
22 hepatocellular carcinoma 10.5
23 corneal dystrophy, fleck 10.5 TSC1 TSC2
24 ischemic fasciitis 10.4 ACTC1 DES
25 dedifferentiated liposarcoma 10.4 ACTC1 DES
26 granular cell tumor 10.4 DES VIM
27 mesenchymal chondrosarcoma 10.4 DES VIM
28 extraskeletal ewing sarcoma 10.4 DES VIM
29 adult hepatocellular carcinoma 10.4 TSC1 TSC2
30 dendritic cell tumor 10.4 ACTC1 VIM
31 kidney benign neoplasm 10.4 MTOR TSC2
32 plasmablastic lymphoma 10.4 DES MTOR
33 fibroblastic rheumatism 10.4 ACTC1 DES
34 infantile digital fibromatosis 10.4 DES VIM
35 oncocytoma 10.3
36 cutaneous leiomyosarcoma 10.3 ACTC1 DES
37 botryoid rhabdomyosarcoma 10.3 ACTC1 DES
38 primitive neuroectodermal tumor of the cervix uteri 10.3 DES VIM
39 chickenpox 10.3 ACTC1 PGR
40 intravascular papillary endothelial hyperplasia 10.3 ACTC1 VIM
41 glomangioma 10.3 ACTC1 DES
42 liposarcoma 10.3
43 sertoli cell tumor 10.3 PGR VIM
44 biphasic synovial sarcoma 10.3 DES VIM
45 clear cell renal cell carcinoma 10.3
46 non-langerhans-cell histiocytosis 10.3 ACTC1 DES
47 adenofibroma 10.3 ACTC1 VIM
48 calcifying aponeurotic fibroma 10.3 ACTC1 PGR
49 childhood kidney cell carcinoma 10.3 MITF TSC2
50 familial renal papillary carcinoma 10.3 MITF TSC2

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to Angiomyolipoma
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Symptoms & Phenotypes for Angiomyolipoma

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MGI Mouse Phenotypes related to Angiomyolipoma:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 ACTC1 DES ESR1 KIT MITF MTOR
2 behavior/neurological MP:0005386 10.27 DES ESR1 KIT MITF MTOR PGR
3 cardiovascular system MP:0005385 10.26 ACTC1 DES ESR1 KIT MTOR PGR
4 homeostasis/metabolism MP:0005376 10.25 ACTC1 DES ESR1 KIT MITF MTOR
5 mortality/aging MP:0010768 10.2 ACTC1 DES ESR1 KIT MITF MTOR
6 embryo MP:0005380 10.19 ESR1 KIT MITF MTOR PGR TSC1
7 endocrine/exocrine gland MP:0005379 10.13 ESR1 KIT MITF MTOR PGR TSC1
8 integument MP:0010771 10.04 ESR1 KIT MITF PGR TSC1 TSC2
9 muscle MP:0005369 10.03 ACTC1 DES ESR1 KIT MTOR PGR
10 nervous system MP:0003631 9.97 ESR1 KIT MITF MTOR TSC1 TSC2
11 limbs/digits/tail MP:0005371 9.88 ESR1 KIT MITF PGR TYR
12 neoplasm MP:0002006 9.88 ESR1 KIT PGR TSC1 TSC2 TYR
13 normal MP:0002873 9.86 ACTC1 ESR1 KIT MITF MTOR PGR
14 no phenotypic analysis MP:0003012 9.8 ESR1 KIT MITF MTOR PGR TYR
15 renal/urinary system MP:0005367 9.63 ESR1 KIT MTOR TSC1 TSC2 TYR
16 reproductive system MP:0005389 9.56 ESR1 KIT MITF PGR TSC1 TSC2
17 skeleton MP:0005390 9.17 ESR1 KIT MITF MTOR PGR TSC1
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Drugs & Therapeutics for Angiomyolipoma

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Drugs for Angiomyolipoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
2
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177 70789204
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
9 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
11 Antiparasitic Agents Phase 4
12 Antiprotozoal Agents Phase 4
13 Antimalarials Phase 4
14
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
15
Propranolol Approved, Investigational Phase 2 525-66-6 4946
16
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
17
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
18
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
19
Saracatinib Investigational Phase 2 379231-04-6
20 Estrogen Receptor Antagonists Phase 2
21 Aromatase Inhibitors Phase 2
22 Steroid Synthesis Inhibitors Phase 2
23 Hormones Phase 2
24 Estrogen Antagonists Phase 2
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
26 Hormone Antagonists Phase 2
27 Estrogens Phase 2
28 Vasodilator Agents Phase 2
29 Anti-Arrhythmia Agents Phase 2
30 Adrenergic Agents Phase 2
31 Neurotransmitter Agents Phase 2
32 Antihypertensive Agents Phase 2
33 Adrenergic Antagonists Phase 2
34 Angiogenesis Inhibitors Phase 2
35 Adrenergic beta-Antagonists Phase 2
36 Antineoplastic Agents, Hormonal Phase 2
37 Gastrointestinal Agents Phase 2
38 Liver Extracts Phase 2
39 Peripheral Nervous System Agents Phase 2
40 Anti-Inflammatory Agents Phase 2
41 Analgesics, Non-Narcotic Phase 2
42 Analgesics Phase 2
43 Cola Phase 2
44 Cyclooxygenase 2 Inhibitors Phase 2
45 Antirheumatic Agents Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 2
47 Cyclooxygenase Inhibitors Phase 2
48
Ceritinib Approved Phase 1 1032900-25-6
49 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4 Sirolimus
2 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex. Recruiting NCT03525834 Phase 4 everolimus
4 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
5 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
6 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
7 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
8 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Completed NCT02104011 Phase 2 Propranolol
9 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
10 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
11 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
12 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
13 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
14 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
15 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Active, not recruiting NCT02484664 Phase 2 Celecoxib
16 Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus Terminated NCT02539459 Phase 2 Everolimus
17 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
18 Phase I/Ib Dose Escalation & Biomarker Study of Ceritinib (LDK378) + Everolimus for Locally Advanced or Metastatic Solid Tumors With an Expansion in Non-Small Cell Lung Cancer (NSCLC) Characterized by Abnormalities in Anaplastic Lymphoma Kinase (ALK) Expression Recruiting NCT02321501 Phase 1 Ceritinib (LDK378);Ceritinib (LDK378) 750 mg;Everolimus
19 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
20 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
21 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Recruiting NCT02887781
22 EASYX-1 : A Multicenter Study on Safety and Efficacy of Easyx Liquid Embolization Agent Used in Five Separate Indications Recruiting NCT03477149 Not Applicable
23 Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex Recruiting NCT02654340
24 A National Registry on Chinese Patients With Lymphangioleiomyomatosis Recruiting NCT03193892

Search NIH Clinical Center for Angiomyolipoma

Cochrane evidence based reviews: angiomyolipoma

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Genetic Tests for Angiomyolipoma

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Anatomical Context for Angiomyolipoma

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MalaCards organs/tissues related to Angiomyolipoma:

42
Kidney, Liver, Lung, Lymph Node, Colon, Smooth Muscle, Adrenal Gland
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Publications for Angiomyolipoma

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Articles related to Angiomyolipoma:

(show top 50) (show all 1583)
# Title Authors Year
1
Adrenal angiomyolipoma: a rare localization. ( 30457130 )
2019
2
Renal Angiomyolipoma Based on New Classification: How to Differentiate It From Renal Cell Carcinoma. ( 30620673 )
2019
3
Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation. ( 30628968 )
2019
4
Wunderlich syndrome, spontaneous ruptured renal angiomyolipoma & tuberous sclerosis. ( 30629244 )
2019
5
Late local, peritoneal and systemic recurrence of renal angiomyolipoma: A case report. ( 30655976 )
2019
6
Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma. ( 30675208 )
2019
7
Hepatic angiomyolipoma with early drainage veins into the hepatic and portal vein. ( 30762212 )
2019
8
Renal Epithelioid Angiomyolipoma Undergoing Aggressive Clinical Outcome: The MDM2 Expression in Tumor Cells of Two Cases. ( 30799331 )
2019
9
Differentiation of renal angiomyolipoma without visible fat from renal cell carcinoma by machine learning based on whole-tumor computed tomography texture features. ( 30799634 )
2019
10
New radiologic classification of renal angiomyolipoma: frequently asked questions. ( 30825810 )
2019
11
Clinicopathologic analysis of renal epithelioid angiomyolipoma: Consecutively excised 23 cases. ( 30844148 )
2019
12
Embolization of Ruptured Renal Angiomyolipoma in Puerpera. ( 30868552 )
2019
13
Angiomyolipoma of the Adrenal Glands. ( 30878377 )
2019
14
Huge retroperitoneal epithelioid angiomyolipoma: A case report. ( 29276686 )
2018
15
mTORC1 Inhibition Is an Effective Treatment for Sporadic Renal Angiomyolipoma. ( 29340326 )
2018
16
A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis. ( 29942788 )
2018
17
Angiomyolipoma of the Liver without a Fat Component, Mimicking a Hepatocellular Carcinoma. ( 29361814 )
2018
18
Massive hematuria at pregnancy caused by ruptured angiomyolipoma: A case report. ( 29254628 )
2018
19
Consequences of delay in screening, monitoring, and treatment of angiomyolipoma and tuberous sclerosis: A case reporta8c. ( 29701176 )
2018
20
Two in One: Epithelioid angiomyolipoma within a classic kidney angiomyolipoma - a case report. ( 29843640 )
2018
21
Sporadic renal angiomyolipoma in a patient with Birt-Hogg-DubAc: chaperones in pathogenesis. ( 29774133 )
2018
22
Hepatic angiomyolipoma detected using computed tomography. ( 29392859 )
2018
23
Hepatic epithelioid angiomyolipoma with renal metastasis: radiologic-pathologic correlation. ( 29955240 )
2018
24
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ( 29697822 )
2018
25
Re: Diagnostic Performance of CT for Diagnosis of Fat-Poor Angiomyolipoma in Patients with Renal Masses: A Systematic Review and Meta-Analysis. ( 29783555 )
2018
26
A rare highly aggressive tumor of the kidney: The pure epithelioid angiomyolipoma. ( 29785369 )
2018
27
Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomised EXIST-1 and EXIST-2 studies. ( 29569806 )
2018
28
Human renal angiomyolipoma cells of male and female origin can migrate and are influenced by microenvironmental factors. ( 29920561 )
2018
29
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )
2018
30
Retroperitoneal laparoscopic nephron sparing surgery for large renal angiomyolipoma: Our technique and experience. A case series of 41 patients. ( 29723675 )
2018
31
Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )
2018
32
Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation. ( 29764404 )
2018
33
Hepatic angiomyolipoma: mutation analysis and immunohistochemical pitfalls in diagnosis. ( 29512829 )
2018
34
Spontaneous reduction of native kidney size involving angiomyolipoma lesions in a kidney transplant recipient with tuberous sclerosis complex. ( 29417638 )
2018
35
Extrarenal retroperitoneal angiomyolipoma with oncocytoma. ( 29343920 )
2018
36
Gemstone spectral imaging dual-energy computed tomography for differentiation of renal cell carcinoma and minimal-fat renal angiomyolipoma. ( 29970695 )
2018
37
Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )
2018
38
Expression of MDM2 and p16 in Angiomyolipoma. ( 29432785 )
2018
39
Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction<sup/>. ( 29885779 )
2018
40
Giant Extrarenal Retroperitoneal Angiomyolipoma: A Rare Case of a Large Size Tumor. ( 29980448 )
2018
41
Angiomyolipoma of the Kidneys: Current Perspectives and Challenges in Diagnostic Imaging and Image-Guided Therapy. ( 29685402 )
2018
42
Eosinophilic solid and cystic renal cell carcinoma mimicking epithelioid Angiomyolipoma: series of 4 primary tumors and 2 metastases. ( 29885406 )
2018
43
Hepatic angiomyolipoma presenting as an arterially enhancing liver lesion. ( 29392818 )
2018
44
Malignant renal epithelioid angiomyolipoma with TFE3 gene amplification mimicking renalA carcinoma. ( 29951351 )
2018
45
Factors associated with the number and size of renal angiomyolipomas in sporadic angiomyolipoma (sAML): a study of adult patients with sAML managed in a Dutch tertiary referral center. ( 29333579 )
2018
46
Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )
2018
47
A rare case of renal angiomyolipoma involved both inferior vena cava and pulmonary arteries. ( 29707365 )
2018
48
Morphologic analysis with computed tomography may help differentiate fat-poor angiomyolipoma from renal cell carcinoma: a retrospective study with 602 patients. ( 28677004 )
2018
49
Atypical Epithelioid Angiomyolipoma: A Rare Variant With Malignant Potential. ( 28993216 )
2018
50
Transarterial Embolization of a Ruptured Renal Angiomyolipoma. ( 29021483 )
2018
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Variations for Angiomyolipoma

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Expression for Angiomyolipoma

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Search GEO for disease gene expression data for Angiomyolipoma.
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Pathways for Angiomyolipoma

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Pathways related to Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 65
Show member pathways
 13.55 CCL26 DES ESR1 KIT MTOR TSC1
2
Pathways in cancer 38
12.62 ESR1 KIT MITF MTOR
3
Gastric cancer 38
Show member pathways
 12.53 ESR1 KIT MTOR PGR
4
Glioma 38
Show member pathways
 12.25 ESR1 MITF MTOR TSC1 TSC2
5
Phospholipase D signaling pathway 38
Show member pathways
 12.1 KIT MTOR TSC1 TSC2
6
Translational Control 4
12.07 MTOR TSC1 TSC2
7
AMPK Enzyme Complex Pathway 65
Show member pathways
 12 MTOR TSC1 TSC2
8
Cellular senescence (KEGG) 38
11.96 MTOR TSC1 TSC2
9
AKT Signaling Pathway 68
11.94 MTOR TSC1 TSC2
10
Longevity regulating pathway 38
Show member pathways
 11.91 MTOR TSC1 TSC2
11
Autophagy Pathway 66
Show member pathways
 11.9 MTOR TSC1 TSC2
12
Autophagy - animal 38
11.81 MTOR TSC1 TSC2
13
Thyroid hormone signaling pathway 38
11.75 ESR1 MTOR TSC2
14
Glioblastoma Multiforme 65
11.72 MTOR TSC1 TSC2
15
Integrated Breast Cancer Pathway 1
11.64 ESR1 MTOR TSC1 TSC2
16
TP53 Regulates Metabolic Genes 67
11.56 MTOR TSC1 TSC2
17
Striated Muscle Contraction 1 67
11.47 ACTC1 DES VIM
18
mTOR signaling pathway (Pathway Interaction Database) 1
11.33 MTOR TSC1 TSC2
19
Wnt Signaling Pathway Netpath 1
11.22 MTOR TSC1 TSC2
20
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
11.09 MTOR TSC2
21
Follicle Stimulating Hormone (FSH) signaling pathway 1
11.02 MTOR TSC2
22
4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression 1
10.79 MTOR TSC1
23
BDNF-TrkB Signaling 1
10.66 MTOR TSC1 TSC2
24
LKB1 signaling events 1
10.55 ESR1 MTOR TSC1 TSC2
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GO Terms for Angiomyolipoma

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Cellular components related to Angiomyolipoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 ACTC1 DES ESR1 MTOR PGR TSC1
2 cytoplasm GO:0005737 9.65 ACTC1 DES ESR1 KIT MTOR PGR
3 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.67 ESR1 KIT MTOR
2 positive regulation of gene expression GO:0010628 9.55 ACTC1 KIT MITF MTOR VIM
3 regulation of protein kinase activity GO:0045859 9.52 MTOR TSC1
4 stem cell differentiation GO:0048863 9.51 ESR1 KIT
5 melanocyte differentiation GO:0030318 9.48 KIT MITF
6 intermediate filament organization GO:0045109 9.46 DES VIM
7 regulation of osteoclast differentiation GO:0045670 9.43 MITF MTOR
8 negative regulation of macroautophagy GO:0016242 9.4 MTOR TSC1
9 positive regulation of phospholipase C activity GO:0010863 9.37 ESR1 KIT
10 anoikis GO:0043276 9.32 MTOR TSC2
11 negative regulation of cell size GO:0045792 9.26 MTOR TSC1
12 pigmentation GO:0043473 9.13 KIT MITF TYR
13 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Molecular functions related to Angiomyolipoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 DES ESR1 MTOR PGR VIM
2 steroid binding GO:0005496 8.96 ESR1 PGR
Sources

Sources for Angiomyolipoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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