MCID: KDN015
MIFTS: 46

Kidney Angiomyolipoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Kidney Angiomyolipoma

MalaCards integrated aliases for Kidney Angiomyolipoma:

Name: Kidney Angiomyolipoma 12 54 15 17
Renal Angiomyolipoma 12 36 6
Angiomyolipoma of Kidney 12 71

Classifications:



External Ids:

Disease Ontology 12 DOID:8411
KEGG 36 H01691
NCIt 49 C3888
UMLS 71 C0241961

Summaries for Kidney Angiomyolipoma

KEGG : 36 Renal angiomyolipoma (AML) is one of the most common solid benign renal tumours, composed of fat, smooth muscle, and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome. Remaining cases are associated with tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis (LAM). The pathogenesis of TSC is thought to result from mutations in either the TSC1 or TSC2 genes that encode the proteins tuberin and hamartin, respectively. These proteins interact with each other to form heterodimers, whose most important role is inhibition of the mTOR pathway. Loss of inhibition of mTORC1 leads to increased activation of this pathway and the formation of the lesions characteristic of TSC. Sporadic renal AML usually have mutations in TSC2, but not TSC1.

MalaCards based summary : Kidney Angiomyolipoma, also known as renal angiomyolipoma, is related to angiomyolipoma and hepatic angiomyolipoma. An important gene associated with Kidney Angiomyolipoma is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are mTOR signaling pathway and Signaling by GPCR. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased 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 199)
# Related Disease Score Top Affiliating Genes
1 angiomyolipoma 30.5 VEGFD TSC2 TSC1 RPS6KB1 MTOR MLANA
2 hepatic angiomyolipoma 30.3 TSC2 TSC1 MTOR MLANA
3 subependymal giant cell astrocytoma 30.2 TSC2 TSC1 RHEB MTOR KCTD1
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.1 TSC2 TSC1 FLCN
5 obstructive hydrocephalus 30.0 TSC2 TSC1 KCTD1
6 polycystic kidney disease 1 with or without polycystic liver disease 30.0 TSC2 TSC1 MTOR
7 kidney cancer 30.0 VEGFD TSC2 TSC1 MTOR FLCN
8 cystic kidney disease 29.7 TSC2 TSC1 MTOR FLCN
9 lymphangioleiomyomatosis 29.6 VEGFD TSC2 TSC1 RPS6KB1 MTOR
10 renal cell carcinoma, nonpapillary 28.5 VEGFD TSC2 TSC1 PRCC MTOR FLCN
11 tuberous sclerosis 1 27.2 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
12 tuberous sclerosis 2 27.1 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
13 tuberous sclerosis 26.8 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
14 childhood kidney angiomyolipoma 12.5
15 liposarcoma 10.5
16 aneurysm 10.4
17 pulmonary embolism 10.4
18 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.4
19 double uterus-hemivagina-renal agenesis 10.4
20 lissencephaly with cerebellar hypoplasia 10.3 TSC2 TSC1
21 pneumothorax 10.3
22 melanoacanthoma 10.3 MTOR MLANA
23 heart cancer 10.3 TSC2 TSC1
24 large cell acanthoma 10.3 MTOR MLANA
25 leiomyoma 10.3
26 astrocytoma 10.3
27 focal cortical dysplasia, type ii 10.2 TSC2 TSC1 MTOR
28 oncocytoma 10.2
29 wilms tumor 5 10.2
30 angiolipoma 10.2 MLANA FLCN
31 cardiovascular cancer 10.2 TSC2 MTOR MLANA
32 polycystic kidney disease 10.2
33 acute cystitis 10.2
34 clear cell renal cell carcinoma 10.2
35 retroperitoneal liposarcoma 10.2
36 connective tissue benign neoplasm 10.2 TSC2 TSC1 FLCN
37 polycystic liver disease 1 with or without kidney cysts 10.1 TSC2 TSC1 FLCN
38 corticobasal degeneration 10.1 RPS6KB1 MTOR
39 aortic disease 10.1 TSC2 TSC1 RPS6KB1
40 neurofibromatosis, type iv, of riccardi 10.1
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
42 thrombosis 10.1
43 pyelonephritis 10.1
44 leiomyosarcoma 10.1
45 perivascular epithelioid cell tumor 10.1
46 renal oncocytoma 10.1
47 adenoma 10.1
48 47,xyy 10.1
49 48,xyyy 10.1
50 back pain 10.1

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 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.85 MTOR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.85 SLAMF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.85 PRCC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.85 SLAMF1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.85 FKBP1A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.85 FKBP1A MTOR PRCC SLAMF1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.85 FKBP1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.64 RICTOR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 MTOR RHEB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.64 TSC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.64 MTOR RHEB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 RICTOR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.64 MTOR RHEB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.64 RICTOR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.64 RICTOR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.64 MTOR RHEB RICTOR TSC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.64 RHEB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.64 MTOR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.64 RHEB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.64 MTOR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.64 TSC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.64 MTOR
23 Decreased viability with paclitaxel GR00179-A-1 9.35 MTOR RPS6KB1
24 Decreased viability with paclitaxel GR00179-A-2 9.35 MTOR
25 Decreased viability with paclitaxel GR00179-A-3 9.35 MTOR RPS6KB1

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 EIF4EBP1 FKBP1A FLCN KCTD1 MLST8 MTOR
2 cellular MP:0005384 10.1 EIF4EBP1 FKBP1A FLCN MTOR RHEB RICTOR
3 growth/size/body region MP:0005378 10.1 EIF4EBP1 FKBP1A FLCN MLST8 MTOR RHEB
4 embryo MP:0005380 10.07 FKBP1A FLCN MLST8 MTOR RHEB RICTOR
5 adipose tissue MP:0005375 10 EIF4EBP1 KCTD1 MTOR RICTOR RPS6KB1 RPTOR
6 homeostasis/metabolism MP:0005376 10 EIF4EBP1 FKBP1A FLCN MTOR RHEB RICTOR
7 mortality/aging MP:0010768 9.93 EIF4EBP1 FKBP1A FLCN MLST8 MTOR RHEB
8 muscle MP:0005369 9.56 EIF4EBP1 FKBP1A MTOR RHEB RICTOR RPS6KB1
9 neoplasm MP:0002006 9.1 FLCN RICTOR RPS6KB1 TSC1 TSC2 VEGFD

Drugs & Therapeutics for Kidney Angiomyolipoma

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
2
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Antibiotics, Antitubercular Phase 4
5 Anti-Infective Agents Phase 4
6 Antifungal Agents Phase 4
7 Anti-Bacterial Agents Phase 4
8 Immunosuppressive Agents Phase 4
9 Immunologic Factors Phase 4
10
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
11 Estrogens Phase 2
12 Aromatase Inhibitors Phase 2
13 Hormone Antagonists Phase 2
14 Steroid Synthesis Inhibitors Phase 2
15 Estrogen Receptor Antagonists Phase 2
16 Estrogen Antagonists Phase 2
17 Hormones Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery Active, not recruiting NCT03525834 Phase 4 everolimus
2 Phase II Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer (CRAD001CUS242T) Unknown status NCT02188550 Phase 2 everolimus and letrozole
3 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 Phase 2 Everolimus
4 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Recruiting NCT02887781

Search NIH Clinical Center for Kidney Angiomyolipoma

Genetic Tests for Kidney Angiomyolipoma

Anatomical Context for Kidney Angiomyolipoma

MalaCards organs/tissues related to Kidney Angiomyolipoma:

40
Kidney, Smooth Muscle, Lung, Lymph Node, Liver, Heart, Uterus

Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 1264)
# Title Authors PMID Year
1
Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. 54 61
19265534 2009
2
Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. 54 61
17932460 2008
3
[Tests for loss of heterozygosity in tuberous sclerosis]. 54 61
11355103 2001
4
Spontaneous rupture of large bilateral renal angiomyolipomas in a patient with tuberous sclerosis complex: A case report and literature review. 61
32025496 2020
5
A CT-based radiomics nomogram for differentiation of renal angiomyolipoma without visible fat from homogeneous clear cell renal cell carcinoma. 61
31506816 2020
6
Radiomics of small renal masses on multiphasic CT: accuracy of machine learning-based classification models for the differentiation of renal cell carcinoma and angiomyolipoma without visible fat. 61
31468159 2020
7
Favorable survival even with high disease-specific complication rates in lymphangioleiomyomatosis after lung transplantation-long-term follow-up of a Japanese center. 61
31729820 2020
8
Transcatheter arterial embolization for unruptured renal angiomyolipoma using a 1.8-Fr tip microballoon catheter with a mixture of ethanol and Lipiodol. 61
32027014 2020
9
Selective Arterial Embolization for Large or Symptomatic Renal Angiomyolipoma: 10 Years of Follow-up. 61
31618658 2020
10
Renal angiomyolipoma-patient characteristics and treatment with focus on active surveillance. 61
31971051 2020
11
Huge renal epithelioid angiomyolipoma - A case report of a giant, benign renal mass. 61
31945544 2020
12
Renal angiomyolipoma with tuberous sclerosis complex: How it differs from sporadic angiomyolipoma in both management and care. 61
31959574 2020
13
Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial. 61
31983379 2020
14
Bleeding angiomyolipoma mimiking a ruptured adrenal tumour. 61
31641611 2020
15
Notch sign in renal angiomyolipoma. 61
31970438 2020
16
Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus. 61
31597506 2020
17
PNL2: A Useful Adjunct Biomarker to HMB45 in the Diagnosis of Uterine Perivascular Epithelioid Cell Tumor (PEComa). 61
31851063 2019
18
Application of Everolimus in Preoperative Neoadjuvant Therapy of Tuberous Sclerosis Complex Associated With Renal Angiomyolipoma: A Single-Center Report of 5 Cases. 61
31601513 2019
19
Renal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH). 61
31847710 2019
20
[A Case of Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus Associated with Tuberous Sclerosis Complex Diagnosed by Intra-Abdominal Bleeding from the Uterus]. 61
31902183 2019
21
[Rapamycin in the treatment of renal diseases associated with tuberous sclerosis complex]. 61
31665839 2019
22
Differentiation of renal angiomyolipoma without visible fat from renal cell carcinoma by machine learning based on whole-tumor computed tomography texture features. 61
30799634 2019
23
Cytological features of a renal angiomyolipoma in a child-A case report. 61
31293099 2019
24
Epithelioid angiomyolipoma with tumor thrombus. 61
31629448 2019
25
Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy. 61
31586081 2019
26
How many surgically-treated angiomyolipomas are related to tuberous sclerosis complex? Insights from a retrospective multicenter study. 61
31619031 2019
27
Snuff box radial access in transcatheter arterial embolization for unruptured renal angiomyolipoma. 61
31536429 2019
28
[Review of upper urinary modified minimal invasive surgical technology]. 61
31420609 2019
29
Renal angiomyolipoma. 61
31389508 2019
30
A case report of giant hamartoma of both kidneys with spontaneous rupture and hemorrhage in a pregnant woman: A case report. 61
31338191 2019
31
New MRI series for kidney evaluation: Saving time and money. 61
31046410 2019
32
[Intratumoral endometriosis in renal angiomyolipomas associated to medium vessel necrotizing vasculitis in a patient with Wünderlich syndrome. A rare finding]. 61
31213263 2019
33
Outcome of Live-Donor Renal Transplants With Incidentally Diagnosed Renal Angiomyolipoma in the Donor. 61
31255355 2019
34
Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. 61
30550347 2019
35
Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2. 61
30053159 2019
36
[The Efficacy of Everolimus for Refractory Seizures in Childhood Onset Epilepsy with Tuberous Sclerosis Complex]. 61
31171758 2019
37
Can we predict the existence of extrarenal feeders to renal angiomyolipomas? 61
30542748 2019
38
New radiologic classification of renal angiomyolipoma: frequently asked questions. 61
30825810 2019
39
Percutaneous nephrolithotomy of a staghorn calculus in a patient with renal angiomyolipoma. 61
31040616 2019
40
Wunderlich syndrome, spontaneous ruptured renal angiomyolipoma and tuberous sclerosis. 61
30629244 2019
41
Renal and adrenal masses containing fat at MRI: Proposed nomenclature by the society of abdominal radiology disease-focused panel on renal cell carcinoma. 61
30693607 2019
42
Renal Angiomyolipoma Based on New Classification: How to Differentiate It From Renal Cell Carcinoma. 61
30620673 2019
43
Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. 61
30455224 2019
44
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. 61
29697822 2019
45
Embolization of Ruptured Renal Angiomyolipoma in Puerpera. 61
30868552 2019
46
Trans-Radial Embolization of Bleeding Renal Angiomyolipoma in Pregnant 30-Year-Old Female - A Case Report. 61
31565170 2019
47
Coexistent sarcoidosis and lymphangioleiomyomatosis in a patient with cystic lung disease. 61
30519468 2019
48
Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma. 61
30675208 2019
49
Lymphangioleiomyomatosis. 61
31610670 2019
50
Clinical behavior and management of three types of renal angiomyolipomas. 61
29549981 2019

Variations for Kidney Angiomyolipoma

ClinVar genetic disease variations for Kidney Angiomyolipoma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSC1 NM_000368.4(TSC1):c.359T>C (p.Leu120Pro)SNV Uncertain significance 523362 rs1554820262 9:135800978-135800978 9:132925591-132925591

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:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

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

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RICTOR
2
Show member pathways
13.79 TSC2 TSC1 RPTOR RICTOR RHEB PRCC
3
Show member pathways
13.52 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
4
Show member pathways
13.12 TSC2 TSC1 RPTOR RHEB MTOR MLST8
5
Show member pathways
13.08 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RICTOR
6
Show member pathways
13.05 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RHEB
7
Show member pathways
12.99 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
8
Show member pathways
12.94 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
9
Show member pathways
12.93 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
10
Show member pathways
12.84 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
11 12.78 TSC2 TSC1 RHEB MTOR EIF4EBP1
12
Show member pathways
12.63 RPS6KB1 PRCC MTOR FLCN EIF4EBP1
13
Show member pathways
12.61 TSC2 TSC1 RPS6KB1 MTOR
14
Show member pathways
12.6 TSC2 RPS6KB1 RHEB MTOR
15
Show member pathways
12.57 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
16
Show member pathways
12.52 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
17
Show member pathways
12.47 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
18
Show member pathways
12.46 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
19
Show member pathways
12.33 TSC2 TSC1 RPS6KB1 MTOR EIF4EBP1
20
Show member pathways
12.3 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
21
Show member pathways
12.25 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
22
Show member pathways
12.24 TSC2 TSC1 RPTOR RHEB MTOR MLST8
23
Show member pathways
12.24 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
24
Show member pathways
12.23 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
25 12.22 TSC2 TSC1 RHEB MTOR EIF4EBP1
26 12.2 RPS6KB1 RICTOR MTOR EIF4EBP1
27 12.19 TSC2 TSC1 RPTOR RPS6KB1 RICTOR MTOR
28 12.18 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
29 12.17 TSC2 TSC1 RHEB MTOR
30
Show member pathways
12.14 TSC2 RPS6KB1 MTOR EIF4EBP1
31 12.13 TSC2 RPS6KB1 MTOR EIF4EBP1
32
Show member pathways
12.09 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
33 12 TSC2 TSC1 RPS6KB1 MTOR
34 11.97 TSC2 RHEB MTOR
35 11.94 TSC2 TSC1 RPTOR RHEB MTOR MLST8
36 11.92 RPS6KB1 MTOR EIF4EBP1
37 11.91 TSC2 TSC1 TBC1D7 RHEB
38 11.89 RICTOR MTOR MLST8
39
Show member pathways
11.87 TSC2 RICTOR MTOR MLST8
40
Show member pathways
11.83 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
41 11.75 RICTOR MTOR MLST8
42
Show member pathways
11.73 RICTOR MTOR MLST8
43 11.71 RPTOR RPS6KB1 MTOR MLST8 EIF4EBP1
44 11.59 TSC2 TSC1 MTOR
45 11.57 TSC2 TSC1 RPTOR MTOR MLST8
46 11.53 TSC2 TSC1 TBC1D7
47
Show member pathways
11.44 RPTOR MTOR MLST8
48 11.39 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
49 11.36 RICTOR MTOR MLST8
50 11.36 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1

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 cytosol GO:0005829 10.07 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
2 lysosome GO:0005764 9.67 TSC2 RPTOR MTOR FLCN
3 postsynaptic cytosol GO:0099524 9.32 MTOR EIF4EBP1
4 TSC1-TSC2 complex GO:0033596 9.16 TSC2 TSC1
5 TORC2 complex GO:0031932 9.13 RICTOR MTOR MLST8
6 TORC1 complex GO:0031931 8.8 RPTOR MTOR MLST8

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 regulation of translation GO:0006417 9.8 TSC1 RPS6KB1 EIF4EBP1
2 cell cycle arrest GO:0007050 9.76 RPTOR RHEB MTOR MLST8
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.75 RICTOR MTOR MLST8
4 regulation of GTPase activity GO:0043087 9.74 RICTOR MTOR MLST8
5 regulation of cellular response to heat GO:1900034 9.69 RPTOR MTOR MLST8
6 regulation of actin cytoskeleton organization GO:0032956 9.67 RICTOR MTOR MLST8
7 positive regulation of endothelial cell proliferation GO:0001938 9.67 VEGFD RPTOR RICTOR MTOR
8 positive regulation of actin filament polymerization GO:0030838 9.65 RICTOR MTOR MLST8
9 regulation of cell size GO:0008361 9.62 RPTOR MTOR
10 positive regulation of oligodendrocyte differentiation GO:0048714 9.62 RHEB MTOR
11 regulation of macroautophagy GO:0016241 9.62 RPTOR RHEB MTOR MLST8
12 regulation of TOR signaling GO:0032006 9.61 RHEB FLCN
13 regulation of phosphorylation GO:0042325 9.61 RPTOR RICTOR
14 negative regulation of insulin receptor signaling pathway GO:0046627 9.61 TSC2 TSC1 RPS6KB1
15 regulation of protein kinase B signaling GO:0051896 9.6 RICTOR MTOR
16 cellular response to nutrient levels GO:0031669 9.59 RPTOR MTOR
17 negative regulation of macroautophagy GO:0016242 9.58 TSC1 MTOR
18 activation of protein kinase B activity GO:0032148 9.58 RICTOR MTOR MLST8
19 anoikis GO:0043276 9.56 TSC2 MTOR
20 cellular response to leucine GO:0071233 9.55 RPTOR MTOR
21 positive regulation of transcription by RNA polymerase III GO:0045945 9.54 RPTOR MTOR
22 negative regulation of cell size GO:0045792 9.52 TSC1 MTOR
23 negative regulation of TOR signaling GO:0032007 9.46 TSC2 TSC1 TBC1D7 FLCN
24 TORC1 signaling GO:0038202 9.43 RPTOR MTOR MLST8
25 positive regulation of TOR signaling GO:0032008 9.35 RPTOR RICTOR RHEB MLST8 FLCN
26 TOR signaling GO:0031929 9.17 RPTOR RPS6KB1 RICTOR MTOR MLST8 FLCN

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 VEGFD TSC2 TSC1 TBC1D7 SLAMF1 RPTOR
2 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.32 RPTOR MTOR
3 TFIIIC-class transcription factor complex binding GO:0001156 9.26 RPTOR MTOR
4 RNA polymerase III type 2 promoter DNA binding GO:0001031 9.16 RPTOR MTOR
5 RNA polymerase III type 1 promoter DNA binding GO:0001030 8.96 RPTOR MTOR

Sources for Kidney Angiomyolipoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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