MCID: KDN015
MIFTS: 45

Kidney Angiomyolipoma

Categories: Cancer diseases, Nephrological diseases
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Aliases & Classifications for Kidney Angiomyolipoma

MalaCards integrated aliases for Kidney Angiomyolipoma:

Name: Kidney Angiomyolipoma 11 53 5 14 16
Angiomyolipoma of Kidney 11 71
Renal Angiomyolipoma 11

Classifications:



External Ids:

Disease Ontology 11 DOID:8411
NCIt 49 C3888
SNOMED-CT 68 254921004
UMLS 71 C0241961

Summaries for Kidney Angiomyolipoma

MalaCards based summary: Kidney Angiomyolipoma, also known as angiomyolipoma of kidney, is related to lymphangioleiomyomatosis and tuberous sclerosis 1. An important gene associated with Kidney Angiomyolipoma is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are Signal Transduction and Viral mRNA Translation. The drugs Everolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, lymph node and liver, and related phenotypes are Decreased viability and Decreased viability

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 262)
# Related Disease Score Top Affiliating Genes
1 lymphangioleiomyomatosis 30.7 VEGFD TSC2 TSC1 RPS6KB1 RPS6 MTOR
2 tuberous sclerosis 1 30.6 TSC2 TSC1
3 polycystic kidney disease 1 with or without polycystic liver disease 30.4 TSC2 TSC1 MTOR
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 TSC2 TSC1
5 liver lipoma 30.2 TSC2 TSC1
6 angiomyolipoma 30.1 VEGFD TSC2 TSC1 TFE3 MTOR MLANA
7 polycystic liver disease 1 with or without kidney cysts 30.1 TSC2 TSC1 FLCN
8 renal oncocytoma 30.0 TFE3 FNIP1 FLCN
9 kidney cancer 30.0 TSC2 TSC1 MTOR FLCN
10 angiolipoma 29.9 TSC2 TSC1 MLANA FLCN
11 bap1 tumor predisposition syndrome 29.9 TSC2 TSC1 MITF FLCN
12 heart cancer 29.9 TSC2 TSC1
13 perivascular epithelioid cell tumor 29.9 TSC2 TSC1 TFE3 MTOR MLANA MITF
14 hepatic angiomyolipoma 29.8 TSC2 TSC1 TFE3 MLANA MITF
15 polycystic kidney disease 29.8 TSC2 TSC1 MTOR AKT1
16 cystic kidney disease 29.8 TSC2 TSC1 MTOR FLCN AKT1
17 alveolar soft part sarcoma 29.7 TFE3 MLANA MITF
18 autosomal dominant polycystic kidney disease 29.7 TSC2 TSC1 MTOR AKT1
19 hemangioma 29.7 TSC2 TSC1 MTOR AKT1
20 inherited cancer-predisposing syndrome 29.7 TSC2 TSC1 MITF FLCN
21 vascular cancer 29.6 TSC2 TFE3 MLANA MITF
22 epithelioid type angiomyolipoma 29.5 TSC2 TSC1 TFE3 MLANA MITF
23 birt-hogg-dube syndrome 29.4 VEGFD TSC2 TSC1 TFE3 MTOR FNIP1
24 renal cell carcinoma, nonpapillary 29.4 VEGFD TSC2 TSC1 TFE3 RHEB MTOR
25 neurilemmoma 29.3 MLANA MITF AKT1
26 chromophobe renal cell carcinoma 28.9 TFE3 MTOR FNIP1 FLCN AKT1
27 renal cell carcinoma, papillary, 1 28.8 TFE3 RHEB MTOR MITF FNIP1 FLCN
28 subependymal giant cell astrocytoma 28.2 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
29 tuberous sclerosis 27.9 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RPS6
30 childhood kidney angiomyolipoma 11.4
31 double uterus-hemivagina-renal agenesis 11.2
32 collecting duct carcinoma 10.7
33 liposarcoma 10.5
34 pulmonary embolism 10.4
35 glioma susceptibility 1 10.3
36 pneumothorax, primary spontaneous 10.3
37 pneumothorax 10.3
38 vascular disease 10.3
39 perivascular epithelioid cell neoplasm 10.3
40 generalized lymphatic anomaly 10.2 VEGFD MTOR
41 exudative vitreoretinopathy 6 10.2 MTOR FKBP1A
42 focal cortical dysplasia, type ii 10.2 TSC2 TSC1 MTOR
43 tuberous sclerosis 2 10.2
44 corneal dystrophy, fleck 10.2 TSC2 TSC1 MTOR
45 cutaneous leiomyosarcoma 10.2 MLANA FLCN
46 oncocytoma 10.2
47 leiomyoma 10.2
48 retroperitoneal liposarcoma 10.2
49 connective tissue benign neoplasm 10.2 TSC2 TSC1 MLANA
50 hemimegalencephaly 10.2 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:

25 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.13 MTOR
2 Decreased viability GR00055-A-2 10.13 MTOR
3 Decreased viability GR00221-A-1 10.13 AKT1 MLST8 MTOR RHEB RPS6KB1
4 Decreased viability GR00221-A-2 10.13 AKT1
5 Decreased viability GR00221-A-3 10.13 AKT1
6 Decreased viability GR00221-A-4 10.13 AKT1 MLST8 MTOR
7 Decreased viability GR00249-S 10.13 AKT1
8 Decreased viability GR00301-A 10.13 RPS6KB1
9 Decreased viability GR00342-S-1 10.13 MTOR
10 Decreased viability GR00342-S-2 10.13 MTOR
11 Decreased viability GR00381-A-1 10.13 RPS6KB1
12 Decreased viability GR00386-A-1 10.13 RHEB
13 Decreased viability GR00402-S-2 10.13 RPS6KB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.58 RICTOR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.58 RICTOR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 MTOR RHEB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.58 TSC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.58 TSC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.58 RICTOR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.58 RICTOR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.58 AKT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.58 RICTOR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.58 TSC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.58 RICTOR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.58 AKT1 MTOR
26 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 RHEB
27 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.58 AKT1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 AKT1 MTOR
29 Decreased viability with paclitaxel GR00179-A-1 9.35 MTOR RPS6KB1
30 Decreased viability with paclitaxel GR00179-A-2 9.35 MTOR
31 Decreased viability with paclitaxel GR00179-A-3 9.35 MTOR RPS6KB1

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MITF
2 growth/size/body region MP:0005378 10.3 AKT1 EIF4EBP1 FKBP1A FLCN MITF MLST8
3 muscle MP:0005369 10.22 AKT1 EIF4EBP1 FKBP1A FNIP1 MTOR RHEB
4 neoplasm MP:0002006 10.11 AKT1 FLCN FNIP1 RICTOR RPS6KB1 TSC1
5 liver/biliary system MP:0005370 10.11 AKT1 FKBP1A FNIP1 MITF RICTOR RPS6
6 normal MP:0002873 10.1 AKT1 FKBP1A MITF MTOR RHEB TFE3
7 embryo MP:0005380 10.03 AKT1 FKBP1A FLCN MITF MLST8 MTOR
8 endocrine/exocrine gland MP:0005379 10.02 AKT1 MITF MTOR RHEB RICTOR RPS6
9 cellular MP:0005384 10 AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MITF
10 adipose tissue MP:0005375 9.98 AKT1 EIF4EBP1 MTOR RICTOR RPS6KB1 RPTOR
11 pigmentation MP:0001186 9.92 MITF MLANA RPS6 TFE3 TSC1
12 cardiovascular system MP:0005385 9.8 AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MLST8
13 mortality/aging MP:0010768 9.53 AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MITF

Drugs & Therapeutics for Kidney Angiomyolipoma

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

(show all 13)
# 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 Liver Extracts Phase 4
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
8
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
9
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
10 Anti-Infective Agents Phase 2
11 Antifungal Agents Phase 2
12 Antibiotics, Antitubercular Phase 2
13 Anti-Bacterial 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 Phase IV, Prospective Single Arm Study of Safety and Efficacy of Votubia (Everolimus) in Taiwanese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not yet recruiting NCT05252585 Phase 4 Everolimus
3 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Completed NCT00126672 Phase 2 Rapamycin
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
5 Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol Active, not recruiting NCT02654340

Search NIH Clinical Center for Kidney Angiomyolipoma

Genetic Tests for Kidney Angiomyolipoma

Anatomical Context for Kidney Angiomyolipoma

Organs/tissues related to Kidney Angiomyolipoma:

MalaCards : Kidney, Lymph Node, Liver, Smooth Muscle, Lung, Uterus, Colon

Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 1434)
# Title Authors PMID Year
1
Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. 53 62
19265534 2009
2
Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. 53 62
17932460 2008
3
[Tests for loss of heterozygosity in tuberous sclerosis]. 53 62
11355103 2001
4
Construction of TSC2 knockout cell line using CRISPR/Cas9 system and demonstration of its effects on NIH-3T3 cells. 62
36181622 2022
5
A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma. 62
36111504 2022
6
Lipid-Poor Renal Angiomyolipoma Mimicking Renal Cell Carcinoma on 68 Ga-FAPI-04 PET/CT. 62
35619202 2022
7
Eosinophilic solid and cystic renal cell carcinoma: a review of literature focused on radiological findings and differential diagnosis. 62
36222870 2022
8
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex. 62
35918040 2022
9
Safety, Efficacy, and Predictors for Late Reintervention After Embolization of Renal Angiomyolipomas - Embolization renal angiomyolipoma. 62
36270316 2022
10
Kruppel-like Factor 2 Inhibits Proliferation in Renal Angiomyolipoma via IL-6/JAK/STAT3 Signaling Pathway. 62
36191984 2022
11
Recurrent retroperitoneal extra-renal angiomyolipoma: A case report and review of literature. 62
36147106 2022
12
Postembolization rupture of a renal angiomyolipoma. 62
35812124 2022
13
Prophylactic renal artery embolization before pregnancy in patients with lymphangioleiomyomatosis and renal angiomyolipoma. 62
36124884 2022
14
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex. 62
34635572 2022
15
Pulmonary lymphangioleiomyomatosis and renal angiomyolipoma in a patient with systemic lupus erythematosus: A case report. 62
36197220 2022
16
Subcutaneous axillary primary epithelioid hemangioendothelioma: report of a rare case. 62
36083389 2022
17
[A discrimination model for differentiation of renal cell carcinoma from renal angiomyolipoma without visible fat: based on hierarchical fusion framework of multi-classifier]. 62
36073216 2022
18
Therapeutic effect of everolimus on small renal angiomyolipoma in cases of tuberous sclerosis complex-related epilepsy and subependymal giant cell astrocytoma. 62
36031512 2022
19
A Clinical Challenge Case of Bilateral Giant Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex. 62
35963394 2022
20
A massive retroperitoneal mature teratoma from a "burned-out" testicular teratoma and seminoma. 62
35669228 2022
21
Anesthetics management of a renal angiomyolipoma using pulse pressure variation and non-invasive cardiac output monitoring: A case report. 62
36157820 2022
22
Tuberous sclerosis complex with skin lesions as the initial presentation: A case report and multidisciplinary discussion. 62
36039596 2022
23
Spontaneous rupture of renal angiomyolipoma and its management: A case report. 62
35860139 2022
24
Individualized everolimus treatment for tuberous sclerosis-related angiomyolipoma promotes treatment adherence and response. 62
35754971 2022
25
A Pilot First-in-Human Study of Embrace, a Polyethylene Glycol-Based Liquid Embolic Agent, in the Embolization of Malignant and Benign Hypervascular Tumors. 62
35278638 2022
26
Are nephrometry scores accurate for the prediction of outcomes in patients with renal angiomyolipoma treated with robot-assisted partial nephrectomy? A multi-institutional analysis. 62
35622350 2022
27
Transarterial Embolization for Sporadic Renal Angiomyolipoma: Patient Selection and Technical Considerations for Optimal Therapeutic Outcomes. 62
36238509 2022
28
Management of adult tuberous sclerosis complex-related angiomyolipoma: A single-center experience. 62
34941491 2022
29
Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China. 62
35578266 2022
30
The clinical and paraclinical manifestations of tuberous sclerosis complex in children. 62
33738777 2022
31
Tuberous sclerosis complex: a complex case. 62
35483879 2022
32
Adults with tuberous sclerosis complex: A distinct patient population. 62
34967000 2022
33
Increased 18F-ALF-NOTA-FAPI and 18F-FDG Uptake in Renal Angiomyolipoma. 62
35025794 2022
34
A Rare Case of Synchronous Oncocytoma and Angiomyolipoma of the Kidney. 62
35228507 2022
35
Use of Microballoon Catheter in Transarterial Ethanol Embolization of Renal Angiomyolipoma: A Retrospective Comparative Study with Historical Control? 62
35911873 2022
36
Active Surveillance for Renal Angiomyolipoma Less Than 4 Centimeters: A Systematic Review of Cohort Studies. 62
35371642 2022
37
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex. 62
35145067 2022
38
Renal angiomyolipoma presenting as acute abdomen in a previously undiagnosed patient of tuberous sclerosis. 62
35131804 2022
39
Chemical Biology Screening Identifies a Vulnerability to Checkpoint Kinase Inhibitors in TSC2-Deficient Renal Angiomyolipomas. 62
35359406 2022
40
Spectrum of Presentations and Management Strategies in Renal Angiomyolipoma. 62
35127338 2022
41
Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review. 62
35928867 2022
42
Pelvic Lymph Node Lymphangiomyomatosis Found During Surgery for Gynecological Fallopian Tube Cancer: A Case Report and Literature Review. 62
35911399 2022
43
Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China. 62
35712104 2022
44
Nephrolithiasis associated with embolization material, Lipiodol®, following embolization of large renal angiomyolipoma. 62
34786344 2022
45
Mechanistic Target of Rapamycin (mTOR) Inhibitors. 62
35091825 2022
46
MRI-Based Radiomics and Urine Creatinine for the Differentiation of Renal Angiomyolipoma With Minimal Fat From Renal Cell Carcinoma: A Preliminary Study. 62
35719934 2022
47
Pulmonary lymphangioleiomyomatosis with an associated giant renal angiomyolipoma. 62
35096144 2022
48
New Trends and Evidence for the Management of Renal Angiomyolipoma: A Comprehensive Narrative Review of the Literature. 62
35096516 2022
49
Exceptional Extension of Benign Angiomyolipoma in the Renal Vein. 62
36213370 2022
50
Association of CT Scan Parameters with the Risk of Renal Angiomyolipoma Rupture; a Brief Report. 62
35072096 2022

Variations for Kidney Angiomyolipoma

ClinVar genetic disease variations for Kidney Angiomyolipoma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSC1 NM_000368.5(TSC1):c.359T>C (p.Leu120Pro) SNV Uncertain Significance
523362 rs1554820262 GRCh37: 9:135800978-135800978
GRCh38: 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 GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Super pathways Score Top Affiliating Genes
1 13.86 AKT1 EIF4EBP1 FKBP1A MLST8 MTOR RHEB
2
Show member pathways
13.76 RPTOR RPS6KB1 RPS6 RHEB MTOR MLST8
3
Show member pathways
13.52 AKT1 FLCN FNIP1 MLST8 MTOR RHEB
4
Show member pathways
13.49 TSC2 TSC1 RPS6KB1 RPS6 MTOR EIF4EBP1
5
Show member pathways
13.44 AKT1 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
6
Show member pathways
13.41 TSC2 RPS6 RICTOR MTOR MLST8 FKBP1A
7
Show member pathways
13.17 AKT1 EIF4EBP1 FKBP1A MLST8 MTOR RHEB
8
Show member pathways
13.15 TSC2 RPTOR RICTOR RHEB MTOR MLST8
9
Show member pathways
13.11 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RPS6
10
Show member pathways
13.08 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
11
Show member pathways
12.91 RPS6KB1 RPS6 MTOR EIF4EBP1 AKT1
12
Show member pathways
12.91 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
13 12.86 VEGFD RICTOR MTOR MLST8 AKT1
14 12.85 VEGFD TSC2 TSC1 RPTOR RPS6KB1 RPS6
15
Show member pathways
12.81 TSC2 TSC1 RPTOR RHEB MTOR MLST8
16
Show member pathways
12.8 TSC2 RPS6KB1 RHEB MTOR MITF AKT1
17
Show member pathways
12.73 TSC2 RICTOR MTOR MLST8 AKT1
18
Show member pathways
12.7 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
19
Show member pathways
12.68 RPS6KB1 MTOR MITF EIF4EBP1 AKT1
20
Show member pathways
12.47 TSC2 TSC1 TBC1D7 AKT1
21
Show member pathways
12.47 TSC2 TSC1 RPS6KB1 RPS6 RHEB MTOR
22
Show member pathways
12.42 RICTOR MTOR MLST8 AKT1
23
Show member pathways
12.41 VEGFD RICTOR MTOR MLST8 AKT1
24
Show member pathways
12.38 TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
25
Show member pathways
12.37 RPS6 RICTOR MTOR MLST8 AKT1
26
Show member pathways
12.36 AKT1 MTOR RHEB RPS6KB1 TSC2
27
Show member pathways
12.35 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
28 12.29 EIF4EBP1 AKT1 MLST8 MTOR RHEB RICTOR
29
Show member pathways
12.29 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
30
Show member pathways
12.27 AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
31 12.26 TSC2 TSC1 RHEB MTOR AKT1
32
Show member pathways
12.24 TSC2 RPS6KB1 MTOR EIF4EBP1 AKT1
33
Show member pathways
12.24 AKT1 MLST8 MTOR RHEB RPS6KB1 RPTOR
34
Show member pathways
12.22 TSC2 TSC1 RPTOR RHEB MTOR MLST8
35
Show member pathways
12.19 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
36
Show member pathways
12.16 TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
37
Show member pathways
12.15 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
38 12.14 RPTOR RPS6KB1 MTOR AKT1
39
Show member pathways
12.1 RPS6KB1 RPS6 MTOR AKT1
40 12.07 TSC2 TSC1 RPTOR RHEB MTOR MLST8
41 12.06 RPS6KB1 RPS6 EIF4EBP1 AKT1
42 12.05 TSC2 TSC1 RPTOR RHEB MTOR MLST8
43 12.03 TSC2 TSC1 TBC1D7 RHEB AKT1
44 12.03 MLST8 MTOR RHEB RPS6 RPS6KB1 RPTOR
45
Show member pathways
12 RPS6KB1 MITF AKT1
46 11.98 MLST8 MTOR RPTOR TSC2
47 11.97 RPS6KB1 RPS6 MTOR EIF4EBP1
48
Show member pathways
11.95 AKT1 MLST8 MTOR RICTOR TSC2
49
Show member pathways
11.95 EIF4EBP1 FLCN MLST8 MTOR RICTOR RPS6
50 11.93 TSC2 TSC1 RPTOR RPS6 RICTOR RHEB

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 10.46 AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MLST8
2 lysosomal membrane GO:0005765 10.02 RPTOR RHEB MTOR FNIP1 FLCN
3 TORC2 complex GO:0031932 9.63 RICTOR MTOR MLST8
4 TORC1 complex GO:0031931 9.43 RPTOR MTOR MLST8
5 TSC1-TSC2 complex GO:0033596 9.1 TSC2 TSC1 TBC1D7

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.4 RPS6KB1 RPS6 RICTOR MTOR MLST8 MITF
2 phosphorylation GO:0016310 10.33 RPTOR RPS6KB1 RICTOR MTOR MLST8 AKT1
3 peptidyl-serine phosphorylation GO:0018105 10.25 RPS6KB1 RICTOR MTOR AKT1
4 positive regulation of protein phosphorylation GO:0001934 10.24 VEGFD MTOR FNIP1 FLCN AKT1
5 cellular response to starvation GO:0009267 10.17 FLCN FNIP1 MTOR RPTOR
6 response to heat GO:0009408 10.11 RPS6KB1 MTOR AKT1
7 positive regulation of actin filament polymerization GO:0030838 10.11 MLST8 MTOR RICTOR
8 negative regulation of autophagy GO:0010507 10.11 RPTOR MTOR MLST8 AKT1
9 negative regulation of cold-induced thermogenesis GO:0120163 10.1 TFE3 RHEB FLCN
10 positive regulation of cell growth GO:0030307 10.1 RPTOR RICTOR MTOR MLST8 AKT1
11 germ cell development GO:0007281 10.09 RPS6KB1 MTOR AKT1
12 regulation of translation GO:0006417 10.09 TSC1 RPS6KB1 EIF4EBP1 AKT1
13 protein kinase B signaling GO:0043491 10.08 AKT1 FLCN RPS6KB1 TSC2
14 positive regulation of glycolytic process GO:0045821 10.05 RPTOR MTOR MLST8
15 response to nutrient levels GO:0031667 10.04 TSC1 RPS6KB1 MTOR
16 negative regulation of macroautophagy GO:0016242 10.02 TSC1 MTOR AKT1
17 regulation of protein phosphorylation GO:0001932 10.01 FLCN FNIP1 MTOR RICTOR
18 regulation of osteoclast differentiation GO:0045670 10 TFE3 MTOR MITF
19 cellular response to osmotic stress GO:0071470 9.97 RPTOR MTOR MLST8
20 cellular response to nutrient levels GO:0031669 9.97 MLST8 MTOR RICTOR RPTOR
21 negative regulation of cell size GO:0045792 9.95 TSC1 MTOR
22 anoikis GO:0043276 9.93 TSC2 MTOR AKT1
23 activation-induced cell death of T cells GO:0006924 9.92 RPS6 AKT1
24 positive regulation of lipid biosynthetic process GO:0046889 9.92 RPTOR MTOR MLST8 AKT1
25 regulation of type B pancreatic cell development GO:2000074 9.91 AKT1 RHEB
26 TORC1 signaling GO:0038202 9.91 RPTOR MTOR MLST8
27 regulation of pro-B cell differentiation GO:2000973 9.9 FLCN FNIP1
28 negative regulation of TOR signaling GO:0032007 9.85 TSC2 TSC1 TBC1D7 FNIP1 FLCN
29 positive regulation of pentose-phosphate shunt GO:1905857 9.73 RPTOR MTOR MLST8
30 positive regulation of TOR signaling GO:0032008 9.73 FLCN FNIP1 MLST8 RHEB RICTOR RPTOR
31 TOR signaling GO:0031929 9.6 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 RNA polymerase III type 3 promoter sequence-specific DNA binding GO:0001006 9.62 RPTOR MTOR
2 ATPase inhibitor activity GO:0042030 9.56 TSC1 FNIP1
3 protein serine/threonine kinase inhibitor activity GO:0030291 9.54 RPTOR AKT1
4 TFIIIC-class transcription factor complex binding GO:0001156 9.46 RPTOR MTOR
5 RNA polymerase III type 2 promoter sequence-specific DNA binding GO:0001003 9.26 RPTOR MTOR
6 RNA polymerase III type 1 promoter sequence-specific DNA binding GO:0001002 8.92 RPTOR MTOR

Sources for Kidney Angiomyolipoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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