MCID: KDN015
MIFTS: 49

Kidney Angiomyolipoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Kidney Angiomyolipoma

MalaCards integrated aliases for Kidney Angiomyolipoma:

Name: Kidney Angiomyolipoma 12 56 15 17
Renal Angiomyolipoma 12 38 30 6
Angiomyolipoma of Kidney 12 74

Classifications:



External Ids:

Disease Ontology 12 DOID:8411
KEGG 38 H01691
NCIt 51 C3888
UMLS 74 C0241961

Summaries for Kidney Angiomyolipoma

MalaCards based summary : Kidney Angiomyolipoma, also known as renal angiomyolipoma, is related to renal cell carcinoma, nonpapillary and angiomyolipoma. An important gene associated with Kidney Angiomyolipoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are mTOR signaling pathway and Cellular Senescence (REACTOME). The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Kidney Angiomyolipoma

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 30.5 FLCN MTOR TSC1 TSC2
2 angiomyolipoma 30.4 MTOR PGR TSC1 TSC2
3 subependymal giant cell astrocytoma 30.3 MTOR TSC1 TSC2
4 birt-hogg-dube syndrome 30.1 FLCN FNIP1
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.0 FLCN TSC1 TSC2
6 perivascular epithelioid cell tumor 30.0 PGR TSC2
7 tuberous sclerosis 2 29.9 MTOR TSC1 TSC2
8 tuberous sclerosis 29.8 MTOR RHEB TSC1 TSC2
9 tuberous sclerosis 1 29.4 MTOR RHEB TSC1 TSC2
10 lymphangioleiomyomatosis 29.4 MTOR PGR TSC1 TSC2
11 pneumothorax 29.1 FLCN FNIP1 PGR TSC1
12 childhood kidney angiomyolipoma 12.3
13 adult hepatocellular carcinoma 10.2 TSC1 TSC2
14 hepatic angiomyolipoma 10.2 MTOR TSC2
15 lissencephaly with cerebellar hypoplasia 10.2 TSC1 TSC2
16 multilocular clear cell renal cell carcinoma 10.2 FLCN TSC2
17 oncocytoma 10.2
18 astrocytoma 10.2
19 pulmonary embolism 10.2
20 hereditary renal cell carcinoma 10.2 FLCN TSC2
21 corneal dystrophy, fleck 10.2 TSC1 TSC2
22 central nervous system benign neoplasm 10.1 MTOR TSC2
23 thrombosis 10.1
24 liposarcoma 10.1
25 familial renal papillary carcinoma 10.1 FLCN TSC2
26 bartholin's gland disease 10.1 MTOR PGR
27 luminal breast carcinoma 10.1 MTOR PGR
28 uterine benign neoplasm 10.0 PGR TSC2
29 subependymal glioma 10.0 MTOR TSC1 TSC2
30 benign ependymoma 10.0 MTOR TSC1 TSC2
31 breast cancer 10.0
32 clear cell renal cell carcinoma 10.0
33 kidney disease 10.0
34 polycystic kidney disease 10.0
35 retroperitoneal liposarcoma 10.0
36 focal cortical dysplasia, type ii 10.0 MTOR TSC1 TSC2
37 polycystic kidney disease 1 with or without polycystic liver disease 10.0 MTOR TSC1 TSC2
38 focal epilepsy 10.0 MTOR TSC1 TSC2
39 pneumothorax, primary spontaneous 10.0 FLCN FNIP1
40 autosomal dominant polycystic kidney disease 10.0 MTOR TSC1 TSC2
41 polycystic liver disease 1 with or without kidney cysts 10.0 FLCN TSC1 TSC2
42 kidney benign neoplasm 10.0 FLCN MTOR TSC2
43 premenstrual tension 9.9 FLCN PGR
44 megalencephaly 9.9 MTOR TSC1
45 estrogen-receptor positive breast cancer 9.9 MTOR PGR
46 aplastic anemia 9.9
47 aortic aneurysm, familial abdominal, 1 9.9
48 lipomatosis, multiple 9.9
49 neurofibromatosis, type iv, of riccardi 9.9
50 septooptic dysplasia 9.9

Graphical network of the top 20 diseases related to Kidney Angiomyolipoma:



Diseases related to Kidney Angiomyolipoma

Symptoms & Phenotypes for Kidney Angiomyolipoma

GenomeRNAi Phenotypes related to Kidney Angiomyolipoma according to GeneCards Suite gene sharing:

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.88 MTOR RHEB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.88 FLCN MTOR RHEB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.88 TSC1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.88 FLCN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.88 FLCN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.88 FLCN
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.88 TSC1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.88 MTOR RHEB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.88 FLCN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.88 MTOR RHEB TSC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.88 RHEB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.88 FLCN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.88 RHEB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.88 MTOR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.88 FLCN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.88 FLCN TSC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.88 MTOR

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 FLCN FNIP1 MTOR PGR RHEB TSC1
2 cellular MP:0005384 9.95 FLCN FNIP1 MTOR PGR RHEB TSC1
3 homeostasis/metabolism MP:0005376 9.87 FLCN FNIP1 MTOR PGR RHEB TSC1
4 embryo MP:0005380 9.85 FLCN MTOR PGR RHEB TSC1 TSC2
5 mortality/aging MP:0010768 9.8 FLCN FNIP1 MTOR PGR RHEB TSC1
6 muscle MP:0005369 9.55 FNIP1 MTOR PGR RHEB TSC1
7 neoplasm MP:0002006 9.35 FLCN FNIP1 PGR TSC1 TSC2
8 renal/urinary system MP:0005367 9.02 FLCN FNIP1 MTOR TSC1 TSC2

Drugs & Therapeutics for Kidney Angiomyolipoma

Drugs for Kidney 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 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 70789204 6442177
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Antibiotics, Antitubercular 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 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Antimalarials Phase 4
12 Antiparasitic Agents Phase 4
13 Antiprotozoal Agents 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 Hormone Antagonists Phase 2
22 Steroid Synthesis Inhibitors Phase 2
23 Estrogens Phase 2
24 Hormones Phase 2
25 Aromatase Inhibitors Phase 2
26 Estrogen Antagonists Phase 2
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
28 Antihypertensive Agents Phase 2
29 Adrenergic Agents Phase 2
30 Neurotransmitter Agents Phase 2
31 Vasodilator Agents Phase 2
32 Anti-Arrhythmia Agents Phase 2
33 Adrenergic Antagonists Phase 2
34 Angiogenesis Inhibitors Phase 2
35 Adrenergic beta-Antagonists Phase 2
36 Gastrointestinal Agents Phase 2
37 Antineoplastic Agents, Hormonal Phase 2
38 Liver Extracts Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 2
40 Analgesics, Non-Narcotic Phase 2
41 Antirheumatic Agents Phase 2
42 Cola Phase 2
43 Cyclooxygenase Inhibitors Phase 2
44 Anti-Inflammatory Agents Phase 2
45 Analgesics Phase 2
46 Peripheral Nervous System Agents Phase 2
47 Cyclooxygenase 2 Inhibitors Phase 2
48
Ceritinib Approved Phase 1 1032900-25-6
49 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:

(show all 25)
# 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 PEComas: Natural History and Prognostic Factors Recruiting NCT03916575
24 Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex (TuScCom) Recruiting NCT02654340
25 A National Registry on Chinese Patients With Lymphangioleiomyomatosis Recruiting NCT03193892

Search NIH Clinical Center for Kidney Angiomyolipoma

Genetic Tests for Kidney Angiomyolipoma

Genetic tests related to Kidney Angiomyolipoma:

# Genetic test Affiliating Genes
1 Renal Angiomyolipoma 30

Anatomical Context for Kidney Angiomyolipoma

MalaCards organs/tissues related to Kidney Angiomyolipoma:

42
Kidney, Lung, Liver, Lymph Node, Breast, Brain, Smooth Muscle

Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 638)
# Title Authors Year
1
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ( 29697822 )
2019
2
Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. ( 30455224 )
2019
3
Renal Angiomyolipoma Based on New Classification: How to Differentiate It From Renal Cell Carcinoma. ( 30620673 )
2019
4
Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation. ( 30628968 )
2019
5
Wunderlich syndrome, spontaneous ruptured renal angiomyolipoma & tuberous sclerosis. ( 30629244 )
2019
6
Late local, peritoneal and systemic recurrence of renal angiomyolipoma: A case report. ( 30655976 )
2019
7
Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma. ( 30675208 )
2019
8
Differentiation of renal angiomyolipoma without visible fat from renal cell carcinoma by machine learning based on whole-tumor computed tomography texture features. ( 30799634 )
2019
9
New radiologic classification of renal angiomyolipoma: frequently asked questions. ( 30825810 )
2019
10
Embolization of Ruptured Renal Angiomyolipoma in Puerpera. ( 30868552 )
2019
11
Percutaneous nephrolithotomy of a staghorn calculus in a patient with renal angiomyolipoma. ( 31040616 )
2019
12
Recurrent, Giant Renal Angiomyolipoma Treated with Selective Arterial Embolization: A Case Report. ( 29275410 )
2019
13
Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )
2018
14
Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomized EXIST-1 and EXIST-2 studies. ( 29569806 )
2018
15
Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial. ( 29587809 )
2018
16
Surveillance imaging for sporadic renal angiomyolipoma less than 40 mm: lessons learnt and recommendations from the experience of a large district general hospital. ( 29658337 )
2018
17
An update on recent developments in rupture of renal angiomyolipoma. ( 29668633 )
2018
18
Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )
2018
19
Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )
2018
20
A rare case of renal angiomyolipoma involved both inferior vena cava and pulmonary arteries. ( 29707365 )
2018
21
Retroperitoneal laparoscopic nephron sparing surgery for large renal angiomyolipoma: Our technique and experience. A case series of 41 patients. ( 29723675 )
2018
22
Sporadic renal angiomyolipoma in a patient with Birt-Hogg-Dubé: chaperones in pathogenesis. ( 29774133 )
2018
23
Two in One: Epithelioid angiomyolipoma within a classic kidney angiomyolipoma - a case report. ( 29843640 )
2018
24
Aggressive Renal Angiomyolipoma in a Patient With Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction. ( 29885779 )
2018
25
Human renal angiomyolipoma cells of male and female origin can migrate and are influenced by microenvironmental factors. ( 29920561 )
2018
26
A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis. ( 29942788 )
2018
27
Gemstone spectral imaging dual-energy computed tomography for differentiation of renal cell carcinoma and minimal-fat renal angiomyolipoma. ( 29970695 )
2018
28
Postembolization Intratumoral Chronic Bleeding, without the Classic CT Feature of Active Extravasation, in Tuberous Sclerosis Complex-Related Renal Angiomyolipoma: Two Case Reports. ( 29998126 )
2018
29
Selective Arterial Embolization of Giant Renal Angiomyolipoma Associated with Tuberous Sclerosis Complex Using Particular and Liquid Embolic Agents. ( 30002583 )
2018
30
Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study. ( 30036593 )
2018
31
Renal Angiomyolipoma: The Good, the Bad, and the Ugly. ( 30039053 )
2018
32
Effect of everolimus treatment for regrown renal angiomyolipoma associated with tuberous sclerosis complex after transcatheter arterial embolization. ( 30069798 )
2018
33
Rupture of renal angiomyolipoma during pregnancy: A case report. ( 30104859 )
2018
34
Embolization of hemorrhagic renal angiomyolipoma complicated by arteriovenous shunting: A case report. ( 30108678 )
2018
35
Large Aneurysm in Renal Angiomyolipoma. ( 30173683 )
2018
36
Benign Neoplasm of Kidney: Angiomyolipoma. ( 30283196 )
2018
37
Evaluation of ABO blood groups and blood-based biomarkers as a predictor of growth kinetics of renal angiomyolipoma. ( 30324575 )
2018
38
Author Correction: Microsatellite analysis for differentiating the origin of renal angiomyolipoma and involved regional lymph node. ( 30333562 )
2018
39
Giant exophytic renal angiomyolipoma masquerading as a retroperitoneal liposarcoma: A case report and review of literature. ( 30425941 )
2018
40
Observational study of characteristics and clinical outcomes of Dutch patients with tuberous sclerosis complex and renal angiomyolipoma treated with everolimus. ( 30439947 )
2018
41
Preoperative inferior vena cava filter implantation to prevent pulmonary fat embolism in a patient showing renal angiomyolipoma extension into the renal vein: A case report and literature review. ( 30546809 )
2018
42
Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. ( 30550347 )
2018
43
Giant renal angiomyolipoma in a solitary kidney. ( 30553288 )
2018
44
Renal angiomyolipoma without visible fat: Can we make the diagnosis using CT and MRI? ( 28779401 )
2018
45
Laparoscopic partial nephrectomy with prior superselective embolisation as treatment for giant renal angiomyolipoma. ( 28803678 )
2018
46
The sunburst sign in renal angiomyolipoma. ( 28828502 )
2018
47
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )
2018
48
Transarterial Embolization of a Ruptured Renal Angiomyolipoma. ( 29021483 )
2018
49
Giant Renal Angiomyolipoma Following Ovarian Stimulation Therapy. ( 29154983 )
2018
50
Chemical shift magnetic resonance imaging for distinguishing minimal-fat renal angiomyolipoma from renal cell carcinoma: a meta-analysis. ( 29178029 )
2018

Variations for Kidney Angiomyolipoma

ClinVar genetic disease variations for Kidney Angiomyolipoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.359T> C (p.Leu120Pro) single nucleotide variant Uncertain significance rs1554820262 GRCh38 Chromosome 9, 132925591: 132925591
2 TSC1 NM_000368.4(TSC1): c.359T> C (p.Leu120Pro) single nucleotide variant Uncertain significance rs1554820262 GRCh37 Chromosome 9, 135800978: 135800978

Expression for Kidney Angiomyolipoma

Search GEO for disease gene expression data for Kidney Angiomyolipoma.

Pathways for Kidney Angiomyolipoma

Pathways related to Kidney Angiomyolipoma according to KEGG:

38
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

Pathways related to Kidney Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 MTOR RHEB TSC1 TSC2
2
Show member pathways
12.84 MTOR RHEB TSC1 TSC2
3
Show member pathways
12.79 MTOR RHEB TSC1 TSC2
4
Show member pathways
12.77 MTOR RHEB TSC1 TSC2
5
Show member pathways
12.76 MTOR RHEB TSC1 TSC2
6
Show member pathways
12.71 MTOR RHEB TSC1 TSC2
7
Show member pathways
12.44 MTOR RHEB TSC2
8
Show member pathways
12.38 MTOR RHEB TSC1 TSC2
9
Show member pathways
12.3 MTOR RHEB TSC1 TSC2
10
Show member pathways
12.28 MTOR RHEB TSC1 TSC2
11
Show member pathways
12.26 MTOR RHEB TSC1 TSC2
12
Show member pathways
12.24 MTOR RHEB TSC1 TSC2
13
Show member pathways
12.13 MTOR TSC1 TSC2
14 12.11 FLCN MTOR TSC1 TSC2
15
Show member pathways
12.08 MTOR RHEB TSC1 TSC2
16
Show member pathways
12.04 MTOR TSC1 TSC2
17 12 MTOR RHEB TSC1 TSC2
18
Show member pathways
11.97 MTOR RHEB TSC2
19 11.97 MTOR RHEB TSC1 TSC2
20 11.95 MTOR RHEB TSC1 TSC2
21
Show member pathways
11.91 MTOR RHEB TSC1 TSC2
22
Show member pathways
11.88 MTOR RHEB TSC2
23
Show member pathways
11.88 MTOR RHEB TSC1 TSC2
24 11.86 MTOR RHEB TSC2
25 11.83 MTOR TSC1 TSC2
26 11.74 RHEB TSC1 TSC2
27 11.73 MTOR RHEB TSC1 TSC2
28
Show member pathways
11.57 FLCN FNIP1 MTOR RHEB TSC1 TSC2
29 11.49 MTOR RHEB TSC1 TSC2
30 11.45 MTOR TSC1 TSC2
31 11.34 TSC1 TSC2
32 11.34 MTOR TSC1 TSC2
33 11.33 MTOR TSC2
34 11.24 MTOR RHEB TSC1 TSC2
35 11.13 MTOR RHEB TSC2
36 10.98 MTOR RHEB TSC2
37 10.88 MTOR TSC1
38 10.79 MTOR RHEB TSC1 TSC2

GO Terms for Kidney Angiomyolipoma

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.56 FLCN FNIP1 KANK1 MTOR PGR RHEB
2 lysosome GO:0005764 9.43 FLCN MTOR TSC2
3 postsynaptic density GO:0014069 9.33 RHEB TSC1 TSC2
4 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.7 FLCN FNIP1 MTOR
2 response to insulin GO:0032868 9.61 MTOR TSC1
3 cellular response to starvation GO:0009267 9.61 FNIP1 MTOR
4 negative regulation of neuron projection development GO:0010977 9.6 KANK1 TSC1
5 regulation of macroautophagy GO:0016241 9.59 MTOR RHEB
6 negative regulation of protein kinase B signaling GO:0051898 9.58 FLCN TSC2
7 positive regulation of stress fiber assembly GO:0051496 9.58 MTOR TSC1
8 negative regulation of cold-induced thermogenesis GO:0120163 9.57 FLCN RHEB
9 positive regulation of macroautophagy GO:0016239 9.56 TSC1 TSC2
10 positive regulation of TOR signaling GO:0032008 9.55 FLCN RHEB
11 regulation of protein kinase activity GO:0045859 9.54 MTOR TSC1
12 negative regulation of Rho protein signal transduction GO:0035024 9.51 FLCN KANK1
13 regulation of protein phosphorylation GO:0001932 9.5 FLCN FNIP1 MTOR
14 positive regulation of oligodendrocyte differentiation GO:0048714 9.49 MTOR RHEB
15 regulation of TOR signaling GO:0032006 9.48 FLCN RHEB
16 negative regulation of macroautophagy GO:0016242 9.46 MTOR TSC1
17 anoikis GO:0043276 9.43 MTOR TSC2
18 negative regulation of cell size GO:0045792 9.4 MTOR TSC1
19 TORC1 signaling GO:0038202 9.37 FNIP1 MTOR
20 negative regulation of insulin receptor signaling pathway GO:0046627 9.33 KANK1 TSC1 TSC2
21 regulation of pro-B cell differentiation GO:2000973 9.26 FLCN FNIP1
22 TOR signaling GO:0031929 9.13 FLCN FNIP1 MTOR
23 negative regulation of TOR signaling GO:0032007 8.92 FLCN FNIP1 TSC1 TSC2

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

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.96 TSC1 TSC2
2 ATPase inhibitor activity GO:0042030 8.62 FNIP1 TSC1

Sources for Kidney Angiomyolipoma

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
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