MCID: KDN015
MIFTS: 45

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
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 pneumothorax and 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 Everolimus and Immunosuppressive Agents 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 211)
# Related Disease Score Top Affiliating Genes
1 pneumothorax 30.4 TSC1 FNIP1 FLCN
2 angiomyolipoma 30.3 VEGFD TSC2 TSC1 TFE3 MTOR MLANA
3 perivascular epithelioid cell tumor 30.3 TSC2 TFE3 MLANA
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.2 TSC2 TSC1 FLCN
5 angiolipoma 30.1 MLANA FLCN
6 kidney cancer 30.1 VEGFD TSC2 TSC1 MTOR FLCN
7 polycystic kidney disease 1 with or without polycystic liver disease 30.0 TSC2 TSC1 MTOR
8 hepatic angiomyolipoma 30.0 TSC2 TFE3 MTOR MLANA
9 subependymal giant cell astrocytoma 29.9 TSC2 TSC1 RHEB MTOR FKBP1A EIF4EBP1
10 cystic kidney disease 29.9 TSC2 TSC1 MTOR FLCN
11 pneumothorax, primary spontaneous 29.8 FNIP1 FLCN
12 obstructive hydrocephalus 29.8 TSC2 TSC1 RICTOR
13 lymphangioleiomyomatosis 29.7 VEGFD TSC2 TSC1 RPS6KB1 MTOR
14 clear cell renal cell carcinoma 29.7 TFE3 MTOR FNIP1 FLCN
15 alveolar soft part sarcoma 29.5 TFE3 PRCC MTOR
16 chromophobe renal cell carcinoma 29.2 TFE3 PRCC FLCN
17 renal cell carcinoma, nonpapillary 28.7 VEGFD TSC2 TSC1 TFE3 PRCC MTOR
18 birt-hogg-dube syndrome 28.5 TSC2 TFE3 PRCC MTOR FNIP1 FLCN
19 tuberous sclerosis 27.5 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
20 tuberous sclerosis 1 27.4 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
21 tuberous sclerosis 2 27.3 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
22 childhood kidney angiomyolipoma 12.5
23 liposarcoma 10.5
24 ciliary body cancer 10.4 VEGFD MLANA
25 pulmonary embolism 10.4
26 aneurysm 10.4
27 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.4
28 double uterus-hemivagina-renal agenesis 10.4
29 melanoacanthoma 10.4 MTOR MLANA
30 lissencephaly with cerebellar hypoplasia 10.4 TSC2 TSC1
31 acanthoma 10.4 MTOR MLANA
32 large cell acanthoma 10.3 MTOR MLANA
33 heart cancer 10.3 TSC2 TSC1 MTOR
34 focal cortical dysplasia, type ii 10.3 TSC2 TSC1 MTOR
35 corneal dystrophy, fleck 10.3 TSC2 TSC1 MTOR
36 leiomyoma 10.3
37 astrocytoma 10.3
38 benign ependymoma 10.2 TSC2 TSC1 MTOR
39 connective tissue benign neoplasm 10.2 TSC2 TSC1 MLANA
40 exudative vitreoretinopathy 6 10.2 MTOR FKBP1A
41 scalp-ear-nipple syndrome 10.2 TSC2 TSC1 TBC1D7
42 polycystic liver disease 1 with or without kidney cysts 10.2 TSC2 TSC1 FLCN
43 oncocytoma 10.2
44 wilms tumor 5 10.2
45 acute cystitis 10.2
46 47,xyy 10.2
47 retroperitoneal liposarcoma 10.2
48 familial renal oncocytoma 10.1 FNIP1 FLCN
49 proteus syndrome 10.1 TSC2 TSC1 RHEB MTOR
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 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.22 MTOR RHEB
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.22 TSC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.22 MTOR RHEB
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.22 PRCC SLAMF1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.22 RICTOR PRCC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.22 MTOR RHEB
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 10.22 SLAMF1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.22 TSC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.22 TSC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.22 SLAMF1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.22 PRCC
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.22 RHEB
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.22 SLAMF1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.22 TSC1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.22 FKBP1A
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.22 MTOR RHEB RICTOR
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.22 FKBP1A
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.22 MTOR FKBP1A
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.22 RHEB
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.22 RHEB
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.22 MTOR
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 10.22 TSC1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 10.22 FKBP1A
24 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
25 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
26 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.23 EIF4EBP1 FKBP1A FLCN FNIP1 MLST8 MTOR
2 growth/size/body region MP:0005378 10.18 EIF4EBP1 FKBP1A FLCN MLST8 MTOR RHEB
3 cellular MP:0005384 10.17 EIF4EBP1 FKBP1A FLCN FNIP1 MTOR RHEB
4 embryo MP:0005380 10.1 FKBP1A FLCN MLST8 MTOR RHEB RICTOR
5 homeostasis/metabolism MP:0005376 10.1 EIF4EBP1 FKBP1A FLCN FNIP1 MTOR RHEB
6 mortality/aging MP:0010768 10 EIF4EBP1 FKBP1A FLCN FNIP1 MLST8 MTOR
7 immune system MP:0005387 9.96 FLCN FNIP1 MTOR RHEB RICTOR RPS6KB1
8 muscle MP:0005369 9.61 EIF4EBP1 FKBP1A FNIP1 MTOR RHEB RICTOR
9 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 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
2 Immunosuppressive Agents Phase 4
3 Immunologic Factors Phase 4
4
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
5 Hormones Phase 2
6 Hormone Antagonists Phase 2
7 Estrogen Antagonists Phase 2
8 Estrogen Receptor Antagonists Phase 2
9 Estrogens Phase 2
10 Aromatase Inhibitors 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 Active, not recruiting 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, Lymph Node, Lung, Liver, Colon, Breast

Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 1292)
# Title Authors PMID Year
1
Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. 61 54
19265534 2009
2
Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. 61 54
17932460 2008
3
[Tests for loss of heterozygosity in tuberous sclerosis]. 61 54
11355103 2001
4
Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis. 61
32469709 2020
5
The efficacy of cannabidiol on renal angiomyolipoma and subependymal giant cell tumor volume in tuberous sclerosis complex. 61
32409220 2020
6
Fat-poor renal angiomyolipoma combined with pseudoaneurysm: a case report. 61
32527122 2020
7
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
8
A scoring system based on clinical features for the prediction of sporadic renal angiomyolipoma rupture and hemorrhage. 61
32443333 2020
9
Spontaneous rupture of large bilateral renal angiomyolipomas in a patient with tuberous sclerosis complex: A case report and literature review. 61
32025496 2020
10
Therapeutic targeting of the secreted lysophospholipase D autotaxin suppresses tuberous sclerosis complex-associated tumorigenesis. 61
32393662 2020
11
Fate of Pediatric Renal Angiomyolipoma During mTOR Inhibitor Treatment in Tuberous Sclerosis Complex. 61
32081671 2020
12
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
13
Simultaneous totally robotic rectal resection and partial nephrectomy: case report and review of literature. 61
32366262 2020
14
Renal angiomyolipoma: Clinico-pathologic study of 17 cases with emphasis on the epithelioid histology and p53 gene abnormalities. 61
32574890 2020
15
Sporadic giant renal angiomyolipoma: A case report and literature review of clinical presentation, diagnosis, and treatment options. 61
32565656 2020
16
Notch sign in renal angiomyolipoma. 61
31970438 2020
17
Natural growth pattern of sporadic renal angiomyolipoma. 61
32321277 2020
18
A large bi-lobed classic renal angiomyolipoma with vena caval extension. 61
32055259 2020
19
Surgical management of angiomyolipoma with vena cava thrombus during pregnancy: a case report. 61
32420188 2020
20
The Role of Heat Shock Protein-90 in the Pathogenesis of Birt-Hogg-Dubé and Tuberous Sclerosis Complex Syndromes. 61
32327294 2020
21
How many surgically-treated angiomyolipomas are related to tuberous sclerosis complex? Insights from a retrospective multicenter study. 61
31619031 2020
22
Renal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH). 61
31847710 2020
23
Renal angiomyolipoma-patient characteristics and treatment with focus on active surveillance. 61
31971051 2020
24
[Renal angiomyolipoma with epithelial cysts: a clinicopathological analysis of four cases]. 61
32187896 2020
25
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
26
Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature. 61
32171268 2020
27
An Incidental Diagnosis of Microscopic Renal Angiomyolipoma Completely Excised on Renal Biopsy: A Case Report. 61
32172274 2020
28
The independent indicators for differentiating renal cell carcinoma from renal angiomyolipoma by contrast-enhanced ultrasound. 61
32228606 2020
29
Emergency retroperitoneal laparoscopic partial nephrectomy for ruptured renal angiomyolipomas: a retrospective single-center series of 15 cases. 61
32228561 2020
30
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
31
A CT-based radiomics nomogram for differentiation of renal angiomyolipoma without visible fat from homogeneous clear cell renal cell carcinoma. 61
31506816 2020
32
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
33
The efficacy and safety of pharmacological treatments for lymphangioleiomyomatosis. 61
32059669 2020
34
A case of lymphangioleiomyomatosis with diffuse large B-cell lymphoma: Usefulness of FDG-PET. 61
32257785 2020
35
Huge renal epithelioid angiomyolipoma - A case report of a giant, benign renal mass. 61
31945544 2020
36
Selective Arterial Embolization for Large or Symptomatic Renal Angiomyolipoma: 10 Years of Follow-up. 61
31618658 2020
37
Fat-Containing Renal Cell Carcinoma Mimicking Angiomyolipoma: A Radiological and Histopathological Diagnostic Challenge. 61
32133249 2020
38
Bleeding angiomyolipoma mimiking a ruptured adrenal tumour. 61
31641611 2020
39
Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach. 61
32419429 2020
40
Renal angiomyolipoma with tuberous sclerosis complex: How it differs from sporadic angiomyolipoma in both management and care. 61
31959574 2020
41
Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus. 61
31597506 2020
42
Renal angiomyolipoma with IVC thrombus: A case report. 61
32416484 2020
43
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
44
PNL2: A Useful Adjunct Biomarker to HMB45 in the Diagnosis of Uterine Perivascular Epithelioid Cell Tumor (PEComa). 61
31851063 2019
45
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
46
A new management strategy for renal angiomyolipomas: superselective arterial embolization in combination with radiofrequency ablation. 61
32042782 2019
47
[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
48
[Rapamycin in the treatment of renal diseases associated with tuberous sclerosis complex]. 61
31665839 2019
49
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
50
Cytological features of a renal angiomyolipoma in a child-A case report. 61
31293099 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 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RICTOR
2
Show member pathways
13.78 TSC2 TSC1 RPTOR RICTOR RHEB PRCC
3
Show member pathways
13.28 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
13.06 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RHEB
7
Show member pathways
13 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
8
Show member pathways
12.94 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
9
Show member pathways
12.94 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
10
Show member pathways
12.84 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
11 12.78 TSC2 TSC1 RHEB MTOR EIF4EBP1
12
Show member pathways
12.66 TFE3 RPS6KB1 PRCC MTOR FLCN EIF4EBP1
13
Show member pathways
12.6 TSC2 RPS6KB1 RHEB MTOR
14
Show member pathways
12.59 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
15
Show member pathways
12.54 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
16
Show member pathways
12.47 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
17
Show member pathways
12.46 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
18
Show member pathways
12.31 TSC2 RPS6KB1 MTOR EIF4EBP1
19
Show member pathways
12.3 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
20
Show member pathways
12.27 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
21
Show member pathways
12.25 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
22
Show member pathways
12.23 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
23 12.21 TSC2 TSC1 RHEB MTOR EIF4EBP1
24 12.19 RPS6KB1 RICTOR MTOR EIF4EBP1
25 12.19 TSC2 TSC1 RPTOR RPS6KB1 RICTOR MTOR
26 12.18 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
27 12.16 TSC2 TSC1 RHEB MTOR
28 12.12 TSC2 RPS6KB1 MTOR EIF4EBP1
29
Show member pathways
12.09 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
30
Show member pathways
12.02 TSC2 TSC1 RPTOR RHEB MTOR MLST8
31 12 TSC2 TSC1 RPS6KB1 MTOR
32 11.97 TSC2 RHEB MTOR
33 11.94 TSC2 TSC1 RPTOR RHEB MTOR MLST8
34 11.92 RPS6KB1 MTOR EIF4EBP1
35 11.91 TSC2 TSC1 TBC1D7 RHEB
36 11.89 RICTOR MTOR MLST8
37
Show member pathways
11.87 TSC2 RICTOR MTOR MLST8
38
Show member pathways
11.87 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
39 11.84 RPS6KB1 MTOR EIF4EBP1
40 11.75 RICTOR MTOR MLST8
41
Show member pathways
11.73 RICTOR MTOR MLST8
42 11.71 RPTOR RPS6KB1 MTOR MLST8 EIF4EBP1
43 11.58 TSC2 TSC1 MTOR
44 11.58 TSC2 TSC1 RPTOR MTOR MLST8
45 11.52 TSC2 TSC1 TBC1D7
46
Show member pathways
11.43 RPTOR MTOR MLST8
47 11.39 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
48 11.36 RICTOR MTOR MLST8
49 11.36 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
50 11.35 TSC2 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 TSC2 TSC1 TFE3 TBC1D7 RPTOR RPS6KB1
2 lysosomal membrane GO:0005765 9.72 RPTOR RHEB MTOR FNIP1 FLCN
3 postsynaptic cytosol GO:0099524 9.37 MTOR EIF4EBP1
4 TSC1-TSC2 complex GO:0033596 9.26 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 30)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.85 VEGFD MTOR FNIP1 FLCN
2 cell cycle arrest GO:0007050 9.8 RPTOR RHEB MTOR MLST8
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.79 RICTOR MTOR MLST8
4 regulation of GTPase activity GO:0043087 9.79 RICTOR MTOR MLST8
5 regulation of actin cytoskeleton organization GO:0032956 9.77 RICTOR MTOR MLST8
6 regulation of cellular response to heat GO:1900034 9.74 RPTOR MTOR MLST8
7 cellular response to starvation GO:0009267 9.73 RPTOR MTOR FNIP1 FLCN
8 positive regulation of actin filament polymerization GO:0030838 9.71 RICTOR MTOR MLST8
9 positive regulation of endothelial cell proliferation GO:0001938 9.71 VEGFD RPTOR RICTOR MTOR
10 negative regulation of cold-induced thermogenesis GO:0120163 9.7 TFE3 RHEB FLCN
11 regulation of macroautophagy GO:0016241 9.67 RPTOR RHEB MTOR MLST8
12 regulation of TOR signaling GO:0032006 9.65 RHEB FLCN
13 negative regulation of insulin receptor signaling pathway GO:0046627 9.65 TSC2 TSC1 RPS6KB1
14 regulation of protein kinase B signaling GO:0051896 9.64 RICTOR MTOR
15 regulation of phosphorylation GO:0042325 9.64 RPTOR RICTOR
16 regulation of osteoclast differentiation GO:0045670 9.63 TFE3 MTOR
17 negative regulation of macroautophagy GO:0016242 9.63 TSC1 MTOR
18 activation of protein kinase B activity GO:0032148 9.63 RICTOR MTOR MLST8
19 cellular response to nutrient levels GO:0031669 9.62 RPTOR MTOR
20 regulation of protein phosphorylation GO:0001932 9.62 RICTOR MTOR FNIP1 FLCN
21 anoikis GO:0043276 9.61 TSC2 MTOR
22 cellular response to leucine GO:0071233 9.59 RPTOR MTOR
23 positive regulation of transcription by RNA polymerase III GO:0045945 9.58 RPTOR MTOR
24 negative regulation of cell size GO:0045792 9.58 TSC1 MTOR
25 negative regulation of mitochondrion organization GO:0010823 9.56 FNIP1 FLCN
26 negative regulation of TOR signaling GO:0032007 9.55 TSC2 TSC1 TBC1D7 FNIP1 FLCN
27 regulation of pro-B cell differentiation GO:2000973 9.51 FNIP1 FLCN
28 TORC1 signaling GO:0038202 9.43 RPTOR MTOR MLST8
29 positive regulation of TOR signaling GO:0032008 9.43 RPTOR RICTOR RHEB MLST8 FNIP1 FLCN
30 TOR signaling GO:0031929 9.23 RPTOR RPS6KB1 RICTOR MTOR MLST8 FNIP1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 VEGFD TSC2 TSC1 TFE3 TBC1D7 SLAMF1
2 RNA polymerase III type 3 promoter sequence-specific DNA binding GO:0001006 9.46 RPTOR MTOR
3 ATPase inhibitor activity GO:0042030 9.43 TSC1 FNIP1
4 RNA polymerase III type 3 promoter DNA binding GO:0001032 9.4 RPTOR MTOR
5 RNA polymerase III type 2 promoter sequence-specific DNA binding GO:0001003 9.37 RPTOR MTOR
6 RNA polymerase III type 1 promoter sequence-specific DNA binding GO:0001002 9.32 RPTOR MTOR
7 TFIIIC-class transcription factor complex binding GO:0001156 9.26 RPTOR MTOR
8 RNA polymerase III type 2 promoter DNA binding GO:0001031 9.16 RPTOR MTOR
9 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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