MCID: KDN015
MIFTS: 47

Kidney Angiomyolipoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Kidney Angiomyolipoma

MalaCards integrated aliases for Kidney Angiomyolipoma:

Name: Kidney Angiomyolipoma 12 55 15
Renal Angiomyolipoma 12 37 29 6
Angiomyolipoma of Kidney 12 73

Classifications:



External Ids:

Disease Ontology 12 DOID:8411
NCIt 50 C3888
KEGG 37 H01691
UMLS 73 C0241961

Summaries for Kidney Angiomyolipoma

MalaCards based summary : Kidney Angiomyolipoma, also known as renal angiomyolipoma, is related to angiomyolipoma and renal cell carcinoma, nonpapillary. 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 Afinitor and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, lymph node and lung, 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 78)
# Related Disease Score Top Affiliating Genes
1 angiomyolipoma 30.6 MTOR TSC1 TSC2
2 renal cell carcinoma, nonpapillary 30.4 FLCN MTOR TSC1 TSC2
3 subependymal giant cell astrocytoma 30.2 MTOR TSC1 TSC2
4 tuberous sclerosis 29.8 MTOR RHEB TSC1 TSC2
5 lymphangioleiomyomatosis 29.7 MTOR TSC1 TSC2
6 birt-hogg-dube syndrome 29.6 FLCN FNIP1
7 tuberous sclerosis 1 29.4 MTOR RHEB TSC1 TSC2
8 pneumothorax 29.4 FLCN FNIP1 TSC1
9 childhood kidney angiomyolipoma 12.3
10 oncocytoma 10.1
11 astrocytoma 10.1
12 adult hepatocellular carcinoma 10.1 TSC1 TSC2
13 hepatic angiomyolipoma 10.1 MTOR TSC2
14 lissencephaly with cerebellar hypoplasia 10.1 TSC1 TSC2
15 thrombosis 10.1
16 liposarcoma 10.1
17 pulmonary embolism 10.1
18 corneal dystrophy, fleck 10.1 TSC1 TSC2
19 multilocular clear cell renal cell carcinoma 10.1 FLCN TSC2
20 hereditary renal cell carcinoma 10.1 FLCN TSC2
21 central nervous system benign neoplasm 10.0 MTOR TSC2
22 familial renal papillary carcinoma 10.0 FLCN TSC2
23 peutz-jeghers syndrome 10.0 TSC1 TSC2
24 megalencephaly 10.0 MTOR TSC1
25 cowden disease 10.0 TSC1 TSC2
26 polycystic kidney disease 10.0
27 clear cell renal cell carcinoma 10.0
28 kidney disease 10.0
29 retroperitoneal liposarcoma 10.0
30 subependymal glioma 10.0 MTOR TSC1 TSC2
31 benign ependymoma 10.0 MTOR TSC1 TSC2
32 benign glioma 10.0 MTOR TSC1 TSC2
33 focal cortical dysplasia, type ii 10.0 MTOR TSC1 TSC2
34 tuberous sclerosis 2 10.0 MTOR TSC1 TSC2
35 polycystic kidney disease 1 with or without polycystic liver disease 10.0 MTOR TSC1 TSC2
36 focal epilepsy 9.9 MTOR TSC1 TSC2
37 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9 FLCN TSC1 TSC2
38 autosomal dominant polycystic kidney disease 9.9 MTOR TSC1 TSC2
39 polycystic liver disease 1 with or without kidney cysts 9.9 FLCN TSC1 TSC2
40 kidney benign neoplasm 9.9 FLCN MTOR TSC2
41 pneumothorax, primary spontaneous 9.9 FLCN FNIP1
42 renal cell carcinoma, papillary, 1 9.9 MTOR RHEB
43 aortic aneurysm, familial abdominal, 1 9.8
44 septooptic dysplasia 9.8
45 thrombophilia due to thrombin defect 9.8
46 cystic disease of lung 9.8
47 pancreatic cancer 9.8
48 polycythemia vera 9.8
49 gastrointestinal stromal tumor 9.8
50 myocardial infarction 9.8

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:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 MTOR RHEB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 FLCN MTOR RHEB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.87 FLCN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.87 FLCN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.87 FLCN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.87 TSC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.87 MTOR RHEB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.87 FLCN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 MTOR RHEB TSC1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.87 RHEB
11 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.87 FLCN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.87 RHEB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 MTOR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.87 FLCN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.87 FLCN TSC1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 MTOR

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 FLCN FNIP1 MTOR RHEB TSC1 TSC2
2 cellular MP:0005384 9.8 FLCN FNIP1 MTOR RHEB TSC1 TSC2
3 embryo MP:0005380 9.65 FLCN MTOR RHEB TSC1 TSC2
4 homeostasis/metabolism MP:0005376 9.63 FLCN FNIP1 MTOR RHEB TSC1 TSC2
5 neoplasm MP:0002006 9.26 FLCN FNIP1 TSC1 TSC2
6 renal/urinary system MP:0005367 9.02 FLCN FNIP1 MTOR TSC1 TSC2

Drugs & Therapeutics for Kidney Angiomyolipoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Afinitor 18 49 EVEROLIMUS Novartis March 2009

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
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
2
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
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 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
6 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Immunosuppressive Agents 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 51110-01-1, 38916-34-6 53481605
17
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
18
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
19
Saracatinib Investigational Phase 2 379231-04-6
20 Aromatase Inhibitors Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
22 Estrogen Receptor Antagonists Phase 2
23 Steroid Synthesis Inhibitors Phase 2
24 Estrogen Antagonists Phase 2
25 Hormones Phase 2
26 Hormone Antagonists Phase 2
27 Estrogens Phase 2
28 Vasodilator Agents Phase 2
29 Anti-Arrhythmia Agents Phase 2
30 Antihypertensive Agents Phase 2
31 Angiogenesis Inhibitors Phase 2
32 Adrenergic Antagonists Phase 2
33 Adrenergic beta-Antagonists Phase 2
34 Neurotransmitter Agents Phase 2
35 Adrenergic Agents Phase 2
36 Antineoplastic Agents, Hormonal Phase 2
37 Gastrointestinal Agents Phase 2
38 Liver Extracts Phase 2
39 Analgesics Phase 2
40 Anti-Inflammatory Agents, Non-Steroidal Phase 2
41 Cyclooxygenase 2 Inhibitors Phase 2
42 Cola Phase 2
43 Peripheral Nervous System Agents Phase 2
44 Cyclooxygenase Inhibitors Phase 2
45 Antirheumatic Agents Phase 2
46 Analgesics, Non-Narcotic Phase 2
47 Anti-Inflammatory Agents Phase 2
48
Ceritinib Approved Phase 1 1032900-25-6
49 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:

(show all 23)
# 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 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 29

Anatomical Context for Kidney Angiomyolipoma

MalaCards organs/tissues related to Kidney Angiomyolipoma:

41
Kidney, Lymph Node, Lung, Liver, Thyroid, Heart, Tongue

Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 630)
# Title Authors Year
1
mTORC1 Inhibition Is an Effective Treatment for Sporadic Renal Angiomyolipoma. ( 29340326 )
2018
2
A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis. ( 29942788 )
2018
3
Two in One: Epithelioid angiomyolipoma within a classic kidney angiomyolipoma - a case report. ( 29843640 )
2018
4
Sporadic renal angiomyolipoma in a patient with Birt-Hogg-DubAc: chaperones in pathogenesis. ( 29774133 )
2018
5
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ( 29697822 )
2018
6
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
7
Human renal angiomyolipoma cells of male and female origin can migrate and are influenced by microenvironmental factors. ( 29920561 )
2018
8
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )
2018
9
Retroperitoneal laparoscopic nephron sparing surgery for large renal angiomyolipoma: Our technique and experience. A case series of 41 patients. ( 29723675 )
2018
10
Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )
2018
11
Gemstone spectral imaging dual-energy computed tomography for differentiation of renal cell carcinoma and minimal-fat renal angiomyolipoma. ( 29970695 )
2018
12
Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )
2018
13
Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction<sup/>. ( 29885779 )
2018
14
Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )
2018
15
Transarterial Embolization of a Ruptured Renal Angiomyolipoma. ( 29021483 )
2018
16
Giant Renal Angiomyolipoma Following Ovarian Stimulation Therapy. ( 29154983 )
2018
17
Chemical shift magnetic resonance imaging for distinguishing minimal-fat renal angiomyolipoma from renal cell carcinoma: a meta-analysis. ( 29178029 )
2018
18
Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial. ( 29587809 )
2018
19
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
20
An update on recent developments in rupture of renal angiomyolipoma. ( 29668633 )
2018
21
A rare case of renal angiomyolipoma involved both inferior vena cava and pulmonary arteries. ( 29707365 )
2018
22
Postembolization Intratumoral Chronic Bleeding, without the Classic CT Feature of Active Extravasation, in Tuberous Sclerosis Complex-Related Renal Angiomyolipoma: Two Case Reports. ( 29998126 )
2018
23
Selective Arterial Embolization of Giant Renal Angiomyolipoma Associated with Tuberous Sclerosis Complex Using Particular and Liquid Embolic Agents. ( 30002583 )
2018
24
Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study. ( 30036593 )
2018
25
Renal Angiomyolipoma: The Good, the Bad, and the Ugly. ( 30039053 )
2018
26
Effect of everolimus treatment for regrown renal angiomyolipoma associated with tuberous sclerosis complex after transcatheter arterial embolization. ( 30069798 )
2018
27
Rupture of renal angiomyolipoma during pregnancy: A case report. ( 30104859 )
2018
28
Embolization of hemorrhagic renal angiomyolipoma complicated by arteriovenous shunting: A case report. ( 30108678 )
2018
29
Large Aneurysm in Renal Angiomyolipoma. ( 30173683 )
2018
30
Benign Neoplasm of Kidney: Angiomyolipoma. ( 30283196 )
2018
31
Evaluation of ABO blood groups and blood-based biomarkers as a predictor of growth kinetics of renal angiomyolipoma. ( 30324575 )
2018
32
Author Correction: Microsatellite analysis for differentiating the origin of renal angiomyolipoma and involved regional lymph node. ( 30333562 )
2018
33
Giant exophytic renal angiomyolipoma masquerading as a retroperitoneal liposarcoma: A case report and review of literature. ( 30425941 )
2018
34
Observational study of characteristics and clinical outcomes of Dutch patients with tuberous sclerosis complex and renal angiomyolipoma treated with everolimus. ( 30439947 )
2018
35
Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. ( 30455224 )
2018
36
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
37
Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. ( 30550347 )
2018
38
Giant renal angiomyolipoma in a solitary kidney. ( 30553288 )
2018
39
Giant renal angiomyolipoma: A case report. ( 28781806 )
2017
40
Recurrent, Giant Renal Angiomyolipoma Treated with Selective Arterial Embolization: A Case Report. ( 29275410 )
2017
41
Intermittent everolimus administration for renal angiomyolipoma associated with tuberous sclerosis complex. ( 28905429 )
2017
42
The sunburst sign in renal angiomyolipoma. ( 28828502 )
2017
43
Renal Angiomyolipoma With Incidental Oncocytoma: A Case Report and Review of Literature. ( 29088523 )
2017
44
Ascending cholangitis: rare presentation of a ruptured right-sided renal angiomyolipoma. ( 29026516 )
2017
45
Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees. ( 29344138 )
2017
46
Healthcare utilization and costs in patients with tuberous sclerosiscomplex-related renal angiomyolipoma. ( 27998195 )
2017
47
Effect of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: an evaluation based on tumor density. ( 29256023 )
2017
48
Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report. ( 29344140 )
2017
49
Efficacy of Everolimus for Treating Renal Angiomyolipoma with Inferior Vena Cava Thrombus Associated with Tuberous Sclerosis: A Case Report. ( 28083476 )
2017
50
Are We Overtreating Renal Angiomyolipoma: A Review of the Literature and Assessment of Contemporary Management and Follow-Up Strategies. ( 29260305 )
2017

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 GRCh38 Chromosome 9, 132925591: 132925591
2 TSC1 NM_000368.4(TSC1): c.359T> C (p.Leu120Pro) single nucleotide variant Uncertain significance 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:

37
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

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

(show all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 MTOR RHEB TSC1 TSC2
2
Show member pathways
12.85 MTOR RHEB TSC1 TSC2
3
Show member pathways
12.84 MTOR RHEB TSC1 TSC2
4
Show member pathways
12.8 MTOR RHEB TSC1 TSC2
5
Show member pathways
12.77 MTOR RHEB TSC1 TSC2
6
Show member pathways
12.7 MTOR RHEB TSC1 TSC2
7
Show member pathways
12.53 MTOR TSC1 TSC2
8
Show member pathways
12.44 MTOR RHEB TSC2
9
Show member pathways
12.38 MTOR RHEB TSC1 TSC2
10
Show member pathways
12.3 MTOR RHEB TSC1 TSC2
11
Show member pathways
12.28 MTOR RHEB TSC1 TSC2
12
Show member pathways
12.25 MTOR RHEB TSC1 TSC2
13
Show member pathways
12.23 MTOR RHEB TSC1 TSC2
14
Show member pathways
12.14 MTOR TSC1 TSC2
15 12.11 FLCN MTOR TSC1 TSC2
16
Show member pathways
12.08 MTOR RHEB TSC1 TSC2
17
Show member pathways
12.04 MTOR TSC1 TSC2
18 11.98 MTOR RHEB TSC1 TSC2
19
Show member pathways
11.97 MTOR RHEB TSC2
20 11.97 MTOR RHEB TSC1 TSC2
21 11.95 MTOR RHEB TSC1 TSC2
22
Show member pathways
11.91 MTOR RHEB TSC1 TSC2
23
Show member pathways
11.88 MTOR RHEB TSC2
24 11.86 MTOR RHEB TSC2
25
Show member pathways
11.85 MTOR RHEB TSC1 TSC2
26 11.83 MTOR TSC1 TSC2
27 11.74 RHEB TSC1 TSC2
28 11.73 MTOR RHEB TSC1 TSC2
29
Show member pathways
11.61 MTOR TSC2
30
Show member pathways
11.56 FLCN FNIP1 MTOR RHEB TSC1 TSC2
31 11.49 MTOR RHEB TSC1 TSC2
32 11.47 MTOR TSC1 TSC2
33 11.34 TSC1 TSC2
34 11.34 MTOR TSC1 TSC2
35 11.33 MTOR TSC2
36 11.24 MTOR RHEB TSC1 TSC2
37 11.15 MTOR RHEB TSC2
38 11.01 MTOR RHEB TSC2
39 10.89 MTOR TSC1
40 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 9.7 FLCN FNIP1 KANK1 MTOR RHEB TSC1
2 lysosome GO:0005764 9.43 FLCN MTOR TSC2
3 postsynaptic density GO:0014069 9.13 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 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.7 FLCN FNIP1 MTOR
2 neural tube closure GO:0001843 9.62 TSC1 TSC2
3 response to insulin GO:0032868 9.61 MTOR TSC1
4 cellular response to starvation GO:0009267 9.61 FNIP1 MTOR
5 negative regulation of neuron projection development GO:0010977 9.6 KANK1 TSC1
6 regulation of macroautophagy GO:0016241 9.59 MTOR RHEB
7 negative regulation of protein kinase B signaling GO:0051898 9.58 FLCN TSC2
8 positive regulation of stress fiber assembly GO:0051496 9.58 MTOR TSC1
9 negative regulation of cold-induced thermogenesis GO:0120163 9.57 FLCN RHEB
10 positive regulation of macroautophagy GO:0016239 9.56 TSC1 TSC2
11 positive regulation of TOR signaling GO:0032008 9.55 FLCN RHEB
12 regulation of protein kinase activity GO:0045859 9.54 MTOR TSC1
13 negative regulation of Rho protein signal transduction GO:0035024 9.51 FLCN KANK1
14 regulation of protein phosphorylation GO:0001932 9.5 FLCN FNIP1 MTOR
15 positive regulation of oligodendrocyte differentiation GO:0048714 9.49 MTOR RHEB
16 regulation of TOR signaling GO:0032006 9.48 FLCN RHEB
17 negative regulation of macroautophagy GO:0016242 9.46 MTOR TSC1
18 anoikis GO:0043276 9.43 MTOR TSC2
19 negative regulation of cell size GO:0045792 9.4 MTOR TSC1
20 TORC1 signaling GO:0038202 9.37 FNIP1 MTOR
21 negative regulation of insulin receptor signaling pathway GO:0046627 9.33 KANK1 TSC1 TSC2
22 regulation of pro-B cell differentiation GO:2000973 9.26 FLCN FNIP1
23 TOR signaling GO:0031929 9.13 FLCN FNIP1 MTOR
24 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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