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 50 C3888
SNOMED-CT 67 254921004
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 lymphangioleiomyomatosis and subependymal giant cell astrocytoma. 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 Everolimus and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and lymph node, 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 192)
# Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 30.3 VEGFD TSC2 TSC1 RPS6KB1 RPS6 MTOR
2 subependymal giant cell astrocytoma 30.2 TSC2 TSC1 RHEB MTOR FKBP1A
3 angiomyolipoma 30.2 VEGFD TSC2 TSC1 TFE3 MTOR MLANA
4 perivascular epithelioid cell tumor 30.1 TSC2 TFE3 MLANA
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.1 TSC2 TSC1 FLCN
6 pneumothorax, primary spontaneous 30.0 FNIP1 FLCN
7 angiolipoma 30.0 TSC2 MLANA FLCN
8 hepatic angiomyolipoma 29.9 TSC2 TFE3 MTOR MLANA
9 cystic kidney disease 29.8 TSC2 TSC1 MTOR
10 obstructive hydrocephalus 29.7 TSC2 TSC1
11 birt-hogg-dube syndrome 29.1 TSC2 TFE3 MTOR FNIP1 FLCN
12 renal cell carcinoma, nonpapillary 28.7 VEGFD TSC2 TSC1 TFE3 RHEB MTOR
13 tuberous sclerosis 27.5 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RPS6
14 tuberous sclerosis 1 27.1 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RPS6
15 childhood kidney angiomyolipoma 11.4
16 double uterus-hemivagina-renal agenesis 11.2
17 liposarcoma 10.4
18 pulmonary embolism 10.4
19 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.4
20 ciliary body cancer 10.3 VEGFD MLANA
21 glioma susceptibility 1 10.3
22 pneumothorax 10.3
23 malignant astrocytoma 10.3
24 lissencephaly with cerebellar hypoplasia 10.3 TSC2 TSC1
25 aneurysm 10.2
26 combined hepatocellular carcinoma and cholangiocarcinoma 10.2 MTOR EIF4EBP1
27 oncocytoma 10.2
28 leiomyoma 10.2
29 heart cancer 10.2 TSC2 TSC1 MTOR
30 exudative vitreoretinopathy 6 10.2 MTOR FKBP1A
31 corneal dystrophy, fleck 10.2 TSC2 TSC1 MTOR
32 scalp-ear-nipple syndrome 10.2 TSC2 TSC1 TBC1D7
33 thrombosis 10.2
34 kidney cancer 10.2
35 clear cell renal cell carcinoma 10.2
36 stomatitis 10.2
37 retroperitoneal liposarcoma 10.2
38 polycystic liver disease 1 with or without kidney cysts 10.1 TSC2 TSC1 FLCN
39 skin amelanotic melanoma 10.1 RPS6KB1 EIF4EBP1
40 focal epilepsy 10.1 TSC2 TSC1 MTOR
41 pervasive developmental disorder 10.1 TSC2 TSC1 MTOR
42 polycystic kidney disease 10.1
43 urinary tract infection 10.1
44 leiomyosarcoma 10.1
45 renal oncocytoma 10.1
46 syncope 10.1
47 aortic disease 10.1 TSC2 TSC1 RPS6KB1
48 focal cortical dysplasia, type ii 10.1 TSC2 TSC1 RHEB MTOR
49 familial renal oncocytoma 10.1 FNIP1 FLCN
50 central nervous system benign neoplasm 10.1 TSC2 TSC1 RHEB MTOR

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 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.96 MTOR RHEB
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.96 TSC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.96 MTOR RHEB
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.96 RICTOR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.96 MTOR RHEB
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.96 TSC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.96 TSC1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.96 RHEB
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.96 TSC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.96 MTOR RHEB RICTOR
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.96 MTOR
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.96 RHEB
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.96 RHEB
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.96 MTOR
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 9.96 TSC1
16 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
17 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
18 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 EIF4EBP1 FKBP1A FLCN FNIP1 MLST8 MTOR
2 cellular MP:0005384 10.23 EIF4EBP1 FKBP1A FLCN FNIP1 MTOR RHEB
3 growth/size/body region MP:0005378 10.21 EIF4EBP1 FKBP1A FLCN MLST8 MTOR RHEB
4 embryo MP:0005380 10.13 FKBP1A FLCN MLST8 MTOR RHEB RICTOR
5 homeostasis/metabolism MP:0005376 10.13 EIF4EBP1 FKBP1A FLCN FNIP1 MTOR RHEB
6 endocrine/exocrine gland MP:0005379 10.01 MTOR RHEB RICTOR RPS6 RPS6KB1 RPTOR
7 mortality/aging MP:0010768 10 EIF4EBP1 FKBP1A FLCN FNIP1 MLST8 MTOR
8 liver/biliary system MP:0005370 9.8 FKBP1A FNIP1 RICTOR RPS6 RPTOR TSC1
9 muscle MP:0005369 9.61 EIF4EBP1 FKBP1A FNIP1 MTOR RHEB RICTOR
10 neoplasm MP:0002006 9.17 FLCN FNIP1 RICTOR RPS6KB1 TSC1 TSC2

Drugs & Therapeutics for Kidney Angiomyolipoma

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
2 Immunologic Factors Phase 4
3 Immunosuppressive Agents Phase 4
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
5
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Propranolol Approved, Investigational Phase 2 525-66-6 4946
8 Antifungal Agents Phase 2
9 Antibiotics, Antitubercular Phase 2
10 Anti-Infective Agents Phase 2
11 Anti-Bacterial Agents Phase 2
12 Adrenergic Antagonists Phase 2
13 Angiogenesis Inhibitors Phase 2
14 Adrenergic beta-Antagonists Phase 2
15 Antihypertensive Agents Phase 2
16 Neurotransmitter Agents Phase 2
17 Adrenergic Agents Phase 2
18 Vasodilator Agents Phase 2
19 Anti-Arrhythmia Agents 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 Completed NCT03525834 Phase 4 everolimus
2 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
3 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
4 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Unknown status 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, Lymph Node, Uterus, Colon, Spleen, Adipocyte

Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 1314)
# 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]. 61 54
11355103 2001
4
The tuberous sclerosis complex-associated giant renal angiomyolipoma: A case report. 61
33604042 2021
5
Giant renal pseudoaneurysm complicating angiomyolipoma in a patient with tuberous sclerosis complex: An unusual case report and review of the literature. 61
33520209 2021
6
[Pulmonary lymphangioleiomyomatosis (LAM)]. 61
33420570 2021
7
Quantitative spectral CT evaluation of kidney tumors with the stretched-exponential nonlinear regression analysis model. 61
33532267 2021
8
Natural growth pattern of sporadic renal angiomyolipoma. 61
32321277 2021
9
Magnetic resonance diffusion kurtosis imaging in differential diagnosis of benign and malignant renal tumors. 61
33413681 2021
10
MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61. 61
33082558 2021
11
Efficacy and safety of low-dose everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex. 61
32990779 2021
12
Enhancing disease awareness for tuberous sclerosis complex in patients with radiologic diagnosis of renal angiomyolipoma: an observational study. 61
33517888 2021
13
Review of Value of CT Texture Analysis and Machine Learning in Differentiating Fat-Poor Renal Angiomyolipoma from Renal Cell Carcinoma. 61
33364422 2020
14
Contrast-Enhanced Ultrasound for Assessing Abdominal Conditions in Pregnancy. 61
33302381 2020
15
Right renal angiomyolipoma with intracardiac extension and pulmonary embolism. 61
33325037 2020
16
[Concurrent low-grade oncocytic renal tumor with CD117 negative/CK7 positive immunophenotype and renal angiomyolipoma]. 61
33287518 2020
17
Embolization of an angiomyolipoma in a crossed fused renal ectopia. 61
33102000 2020
18
PNL2: A Useful Adjunct Biomarker to HMB45 in the Diagnosis of Uterine Perivascular Epithelioid Cell Tumor (PEComa). 61
31851063 2020
19
A case of acute bleeding from a small, asymptomatic renal angiomyolipoma (AML) during pneumoperitoneum induction for a rectal tumor resulting in acute hematuria and anemia. 61
33102117 2020
20
Differential diagnosis of hypervascular ultra-small renal cell carcinoma and renal angiomyolipoma with minimal fat in early stage by using thin-section multidetector computed tomography. 61
32415344 2020
21
Multimodality Imaging of Abdominopelvic Tumors with Venous Invasion. 61
33064623 2020
22
Conservative treatment of monolateral giant renal angiomyolipoma in a patient with Tuberous Sclerosis Complex (TSC): A case report. 61
33102110 2020
23
Renal angiomyolipoma with tuberous sclerosis complex: How it differs from sporadic angiomyolipoma in both management and care. 61
31959574 2020
24
The Efficacy of Everolimus for Facial Angiofibromas in Tuberous Sclerosis Complex Patients Treated for Renal Angiomyolipoma/Subependymal Giant Cell Astrocytoma. 61
33032292 2020
25
The Clinical Value and Appropriateness Criteria of Upper Abdominal Magnetic Resonance Examinations in Patients Before and After Bariatric Surgery: a Study of 837 Images. 61
32483745 2020
26
Spontaneous rupture of enormous renal angiomyolipoma in a pregnant tuberous sclerosis patient: a rare case. 61
33129297 2020
27
Lymphangioleiomyomatosis Presenting as Recurrent Pneumothorax. 61
33240698 2020
28
Epithelioid angiomyolipoma with tumor thrombus in IVC and right atrium. 61
33344317 2020
29
[Prevalence of the tuberous sclerosis complex at patients taken care for a renal angiomyolipoma]. 61
32718886 2020
30
Diagnostic value of ultrasound in the spontaneous rupture of renal angiomyolipoma during pregnancy: A case report. 61
32953867 2020
31
Evidence-based protocol-led management of renal angiomyolipoma: A review of literature. 61
32966208 2020
32
Utility of material-specific fat images derived from rapid-kVp-switch dual-energy renal mass CT for diagnosis of renal angiomyolipoma. 61
32957794 2020
33
Renal angiomyolipoma: Clinico-pathologic study of 17 cases with emphasis on the epithelioid histology and p53 gene abnormalities. 61
32574890 2020
34
[A Case of Renal Epithelioid Angiomyolipoma with Recurrence in the Abdominal Cavity]. 61
32723978 2020
35
Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis. 61
32469709 2020
36
The efficacy of cannabidiol on renal angiomyolipoma and subependymal giant cell tumor volume in tuberous sclerosis complex. 61
32409220 2020
37
Therapeutic Targeting of the Secreted Lysophospholipase D Autotaxin Suppresses Tuberous Sclerosis Complex-Associated Tumorigenesis. 61
32393662 2020
38
Natural History of Renal Angiomyolipoma Favors Surveillance as an Initial Approach. 61
32636160 2020
39
Fat-poor renal angiomyolipoma combined with pseudoaneurysm: a case report. 61
32527122 2020
40
Late Recurrence of Metastatic Pancreatic Angiomyolipoma in Tuberous Sclerosis Following Bilateral Nephrectomy and Transplant. 61
33062782 2020
41
Exploring serum metabolic markers for the discrimination of ccRCC from renal angiomyolipoma by metabolomics. 61
32613842 2020
42
Spontaneous rupture of large bilateral renal angiomyolipomas in a patient with tuberous sclerosis complex: A case report and literature review. 61
32025496 2020
43
Fate of Pediatric Renal Angiomyolipoma During mTOR Inhibitor Treatment in Tuberous Sclerosis Complex. 61
32081671 2020
44
A scoring system based on clinical features for the prediction of sporadic renal angiomyolipoma rupture and hemorrhage. 61
32443333 2020
45
Simultaneous totally robotic rectal resection and partial nephrectomy: case report and review of literature. 61
32366262 2020
46
Notch sign in renal angiomyolipoma. 61
31970438 2020
47
Surgical management of angiomyolipoma with vena cava thrombus during pregnancy: a case report. 61
32420188 2020
48
A large bi-lobed classic renal angiomyolipoma with vena caval extension. 61
32055259 2020
49
Sporadic giant renal angiomyolipoma: A case report and literature review of clinical presentation, diagnosis, and treatment options. 61
32565656 2020
50
Renal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH). 61
31847710 2020

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 61)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.17 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RPS6
2
Show member pathways
13.8 TSC2 TSC1 RPTOR RPS6 RICTOR RHEB
3
Show member pathways
13.31 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
4
Show member pathways
13.13 TSC2 TSC1 RPTOR RHEB MTOR MLST8
5
Show member pathways
13.07 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RPS6
6
Show member pathways
13.03 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RPS6
7
Show member pathways
13 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
8
Show member pathways
12.98 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
9
Show member pathways
12.96 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
10
Show member pathways
12.86 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
11 12.8 TSC2 TSC1 RHEB MTOR EIF4EBP1
12
Show member pathways
12.67 TFE3 RPS6KB1 RPS6 MTOR FLCN EIF4EBP1
13
Show member pathways
12.63 TSC2 TSC1 RPS6KB1 MTOR
14
Show member pathways
12.62 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
15
Show member pathways
12.61 TSC2 RPS6KB1 RHEB MTOR
16
Show member pathways
12.61 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
17
Show member pathways
12.52 TSC2 TSC1 RPS6KB1 RPS6 RHEB MTOR
18
Show member pathways
12.48 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
19
Show member pathways
12.47 RPS6KB1 RPS6 MTOR EIF4EBP1
20
Show member pathways
12.32 TSC2 RPS6KB1 MTOR EIF4EBP1
21
Show member pathways
12.31 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
22
Show member pathways
12.27 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
23 12.22 TSC2 TSC1 RHEB MTOR EIF4EBP1
24
Show member pathways
12.21 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
25 12.2 RPS6KB1 RICTOR MTOR EIF4EBP1
26 12.2 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
27 12.18 TSC2 RPS6KB1 RPS6 MTOR EIF4EBP1
28 12.17 TSC2 TSC1 RHEB MTOR
29 12.14 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
30
Show member pathways
12.1 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
31
Show member pathways
12.09 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
32
Show member pathways
12.05 TSC2 TSC1 RPTOR RHEB MTOR MLST8
33 12.04 RPS6KB1 RPS6 MTOR
34 12.02 TSC2 TSC1 RPS6KB1 MTOR
35 12.01 RPS6KB1 RPS6 MTOR EIF4EBP1
36 11.98 TSC2 RHEB MTOR
37 11.98 RPS6 RICTOR MTOR MLST8
38 11.97 TSC2 TSC1 RPTOR RHEB MTOR MLST8
39 11.93 TSC2 TSC1 TBC1D7 RHEB
40 11.92 RPS6KB1 RPS6 MTOR EIF4EBP1
41
Show member pathways
11.9 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RPS6
42
Show member pathways
11.89 TSC2 RICTOR MTOR MLST8
43 11.77 RICTOR MTOR MLST8
44
Show member pathways
11.75 RICTOR MTOR MLST8
45 11.73 RPTOR RPS6KB1 RPS6 MTOR MLST8 EIF4EBP1
46 11.71 RPS6KB1 RPS6 MTOR
47
Show member pathways
11.7 RPS6KB1 RPS6 MTOR
48 11.69 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
49 11.61 TSC2 TSC1 RPTOR MTOR MLST8
50 11.6 TSC2 TSC1 MTOR

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 10.22 TSC2 TSC1 TFE3 RPTOR RPS6KB1 RPS6
2 lysosome GO:0005764 9.77 TSC2 RPTOR MTOR FNIP1 FLCN
3 lysosomal membrane GO:0005765 9.72 RPTOR RHEB MTOR FNIP1 FLCN
4 cytosol GO:0005829 9.5 TSC2 TSC1 TFE3 TBC1D7 RPTOR RPS6KB1
5 postsynaptic cytosol GO:0099524 9.43 MTOR EIF4EBP1
6 TORC2 complex GO:0031932 9.33 RICTOR MTOR MLST8
7 TSC1-TSC2 complex GO:0033596 9.26 TSC2 TSC1
8 TORC1 complex GO:0031931 9.13 RPTOR MTOR MLST8

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.87 VEGFD MTOR FNIP1 FLCN
2 G1/S transition of mitotic cell cycle GO:0000082 9.81 RPS6KB1 RPS6 EIF4EBP1
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.81 RICTOR MTOR MLST8
4 regulation of GTPase activity GO:0043087 9.8 RICTOR MTOR MLST8
5 response to insulin GO:0032868 9.77 TSC1 RPS6KB1 MTOR
6 response to nutrient levels GO:0031667 9.77 TSC1 RPS6KB1 MTOR
7 regulation of cellular response to heat GO:1900034 9.76 RPTOR MTOR MLST8
8 cell cycle arrest GO:0007050 9.76 RPTOR RHEB MTOR MLST8
9 regulation of actin cytoskeleton organization GO:0032956 9.75 RICTOR MTOR MLST8
10 positive regulation of protein serine/threonine kinase activity GO:0071902 9.73 RPTOR RICTOR MLST8
11 cellular response to starvation GO:0009267 9.73 RPTOR MTOR FNIP1 FLCN
12 positive regulation of actin filament polymerization GO:0030838 9.72 RICTOR MTOR MLST8
13 regulation of macroautophagy GO:0016241 9.71 RPTOR RHEB MTOR MLST8
14 negative regulation of cold-induced thermogenesis GO:0120163 9.7 TFE3 RHEB FLCN
15 regulation of cell size GO:0008361 9.67 RPTOR MTOR
16 positive regulation of oligodendrocyte differentiation GO:0048714 9.67 RHEB MTOR
17 negative regulation of insulin receptor signaling pathway GO:0046627 9.67 TSC2 TSC1 RPS6KB1
18 positive regulation of endothelial cell proliferation GO:0001938 9.67 VEGFD RPTOR RICTOR MTOR
19 regulation of TOR signaling GO:0032006 9.66 RHEB FLCN
20 regulation of phosphorylation GO:0042325 9.66 RPTOR RICTOR
21 regulation of protein kinase B signaling GO:0051896 9.65 RICTOR MTOR
22 regulation of osteoclast differentiation GO:0045670 9.65 TFE3 MTOR
23 negative regulation of macroautophagy GO:0016242 9.65 TSC1 MTOR
24 activation of protein kinase B activity GO:0032148 9.65 RICTOR MTOR MLST8
25 cellular response to nutrient levels GO:0031669 9.64 RPTOR MTOR
26 positive regulation of transcription by RNA polymerase III GO:0045945 9.62 RPTOR MTOR
27 anoikis GO:0043276 9.62 TSC2 MTOR
28 regulation of protein phosphorylation GO:0001932 9.62 RICTOR MTOR FNIP1 FLCN
29 cellular response to leucine GO:0071233 9.61 RPTOR MTOR
30 negative regulation of cell size GO:0045792 9.61 TSC1 MTOR
31 negative regulation of TOR signaling GO:0032007 9.55 TSC2 TSC1 TBC1D7 FNIP1 FLCN
32 negative regulation of mitochondrion organization GO:0010823 9.54 FNIP1 FLCN
33 regulation of pro-B cell differentiation GO:2000973 9.51 FNIP1 FLCN
34 TORC1 signaling GO:0038202 9.43 RPTOR MTOR MLST8
35 positive regulation of TOR signaling GO:0032008 9.43 RPTOR RICTOR RHEB MLST8 FNIP1 FLCN
36 TOR signaling GO:0031929 9.28 RPTOR RPS6KB1 RPS6 RICTOR MTOR MLST8

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.33 VEGFD TSC2 TSC1 TFE3 TBC1D7 RPTOR
2 protein kinase binding GO:0019901 9.77 RPTOR RPS6 RICTOR RHEB MTOR
3 protein-containing complex binding GO:0044877 9.73 TSC1 RPTOR MTOR FLCN
4 RNA polymerase III type 3 promoter sequence-specific DNA binding GO:0001006 9.32 RPTOR MTOR
5 ATPase inhibitor activity GO:0042030 9.26 TSC1 FNIP1
6 TFIIIC-class transcription factor complex binding GO:0001156 9.16 RPTOR MTOR
7 RNA polymerase III type 2 promoter sequence-specific DNA binding GO:0001003 8.96 RPTOR MTOR
8 RNA polymerase III type 1 promoter sequence-specific DNA binding GO:0001002 8.62 RPTOR MTOR

Sources for Kidney Angiomyolipoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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