MCID: KDN015
MIFTS: 47

Kidney Angiomyolipoma

Categories: Nephrological diseases, Cancer diseases

Aliases & Classifications for Kidney Angiomyolipoma

MalaCards integrated aliases for Kidney Angiomyolipoma:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:8411
NCIt 50 C3888
SNOMED-CT 68 254921004
KEGG 37 H01691
UMLS 73 C0241961

Summaries for Kidney Angiomyolipoma

MalaCards based summary : Kidney Angiomyolipoma, also known as renal angiomyolipoma, is related to angiomyolipoma and tuberous sclerosis 1. An important gene associated with Kidney Angiomyolipoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are mTOR signaling pathway and Cellular Senescence (REACTOME). The drugs Afinitor and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and breast, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Kidney Angiomyolipoma

Diseases related to Kidney Angiomyolipoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 angiomyolipoma 30.2 MTOR TSC1 TSC2
2 tuberous sclerosis 1 30.1 TSC1 TSC2
3 tuberous sclerosis 28.8 MTOR RHEB TSC1 TSC2
4 childhood kidney angiomyolipoma 12.1
5 adult hepatocellular carcinoma 10.4 TSC1 TSC2
6 lissencephaly with cerebellar hypoplasia 10.3 TSC1 TSC2
7 hepatic angiomyolipoma 10.3 MTOR TSC2
8 corneal dystrophy, fleck 10.3 TSC1 TSC2
9 hereditary renal cell carcinoma 10.2 FLCN TSC2
10 peutz-jeghers syndrome 10.1 TSC1 TSC2
11 familial renal papillary carcinoma 10.1 FLCN TSC2
12 megalencephaly 10.1 MTOR TSC1
13 subependymal glioma 9.9 MTOR TSC1 TSC2
14 benign ependymoma 9.9 MTOR TSC1 TSC2
15 subependymal giant cell astrocytoma 9.9 MTOR TSC1 TSC2
16 focal cortical dysplasia, type ii 9.9 MTOR TSC1 TSC2
17 tuberous sclerosis 2 9.9 MTOR TSC1 TSC2
18 cowden disease 9.9 TSC1 TSC2
19 autosomal genetic disease 9.9 FLCN TSC2
20 polycystic kidney disease 1 with or without polycystic liver disease 9.9 MTOR TSC1 TSC2
21 multilocular clear cell renal cell carcinoma 9.9 FLCN TSC1 TSC2
22 renal cell carcinoma, papillary, 1 9.9 FLCN MTOR
23 lymphangioleiomyomatosis 9.9 MTOR TSC1 TSC2
24 focal epilepsy 9.8 MTOR TSC1 TSC2
25 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8 FLCN TSC1 TSC2
26 autosomal dominant polycystic kidney disease 9.8 MTOR TSC1 TSC2
27 polycystic liver disease 1 with or without kidney cysts 9.8 FLCN TSC1 TSC2
28 birt-hogg-dube syndrome 9.6 FLCN FNIP1
29 pleural disease 9.6 FLCN FNIP1
30 kidney benign neoplasm 9.3 FLCN MTOR TSC1 TSC2
31 pneumothorax 9.3 FLCN FNIP1 TSC1
32 renal cell carcinoma, nonpapillary 9.2 FLCN MTOR TSC1 TSC2
33 autism 9.1 MTOR TSC1 TSC2

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 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.88 RHEB MTOR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.88 RHEB FLCN MTOR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.88 TSC1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.88 FLCN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.88 FLCN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.88 FLCN
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.88 TSC1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.88 RHEB MTOR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.88 FLCN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.88 RHEB TSC1 MTOR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.88 RHEB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.88 FLCN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.88 RHEB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.88 MTOR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.88 FLCN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.88 TSC1 FLCN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.88 MTOR

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

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

Drugs & Therapeutics for Kidney Angiomyolipoma

FDA approved drugs:

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

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
2
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
7 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antiparasitic Agents Phase 4
11 Antiprotozoal Agents Phase 4
12 Antimalarials Phase 4
13
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
14
Propranolol Approved, Investigational Phase 2 525-66-6 4946
15
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
16
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
17
Menthol Approved Phase 2 2216-51-5 16666
18
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
19
Saracatinib Investigational Phase 2 379231-04-6
20 Steroid Synthesis Inhibitors Phase 2
21 Hormone Antagonists Phase 2
22 Hormones Phase 2
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
24 Estrogen Antagonists Phase 2
25 Estrogens Phase 2
26 Aromatase Inhibitors Phase 2
27 Adrenergic Agents Phase 2
28 Adrenergic Antagonists Phase 2
29 Adrenergic beta-Antagonists Phase 2
30 Gastrointestinal Agents Phase 2
31 Neurotransmitter Agents Phase 2
32 Angiogenesis Inhibitors Phase 2
33 Anti-Arrhythmia Agents Phase 2
34 Vasodilator Agents Phase 2
35 Antihypertensive Agents Phase 2
36 Antineoplastic Agents, Hormonal Phase 2
37 Liver Extracts Phase 2
38 Analgesics Phase 2
39 Cyclooxygenase 2 Inhibitors Phase 2
40 Cyclooxygenase Inhibitors Phase 2
41 Analgesics, Non-Narcotic Phase 2
42 Peripheral Nervous System Agents Phase 2
43 Anti-Inflammatory Agents Phase 2
44 Anti-Inflammatory Agents, Non-Steroidal Phase 2
45 Antirheumatic Agents Phase 2
46 Cola Nutraceutical Phase 2

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4 Sirolimus
2 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 Phase IV Study of Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex. Not yet recruiting NCT03525834 Phase 4 everolimus
4 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
5 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2 sirolimus
6 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2 sirolimus
7 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
8 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Completed NCT02104011 Phase 2 Propranolol
9 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2 RAD001
10 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
11 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2 Rapamycin, sirolimus
12 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2 Octreotide
13 Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus Recruiting NCT02539459 Phase 2 Everolimus
14 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
15 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2 saracatinib
16 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Active, not recruiting NCT02484664 Phase 2 Celecoxib
17 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
18 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
19 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
20 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Recruiting NCT02887781
21 EASYX-1 : A Multicenter Study on Safety and Efficacy of Easyx Liquid Embolization Agent Used in Five Separate Indications Recruiting NCT03477149 Not Applicable
22 A National Registry on Chinese Patients With Lymphangioleiomyomatosis Recruiting NCT03193892

Search NIH Clinical Center for Kidney Angiomyolipoma

Genetic Tests for Kidney Angiomyolipoma

Genetic tests related to Kidney Angiomyolipoma:

# Genetic test Affiliating Genes
1 Renal Angiomyolipoma 29

Anatomical Context for Kidney Angiomyolipoma

MalaCards organs/tissues related to Kidney Angiomyolipoma:

41
Kidney, Liver, Breast, Endothelial, Brain, Lung, Smooth Muscle

Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 307)
# Title Authors Year
1
mTORC1 Inhibition Is an Effective Treatment for Sporadic Renal Angiomyolipoma. ( 29340326 )
2018
2
A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis. ( 29942788 )
2018
3
Two in One: Epithelioid angiomyolipoma within a classic kidney angiomyolipoma - a case report. ( 29843640 )
2018
4
Sporadic renal angiomyolipoma in a patient with Birt-Hogg-DubAc: chaperones in pathogenesis. ( 29774133 )
2018
5
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ( 29697822 )
2018
6
Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomised EXIST-1 and EXIST-2 studies. ( 29569806 )
2018
7
Human renal angiomyolipoma cells of male and female origin can migrate and are influenced by microenvironmental factors. ( 29920561 )
2018
8
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )
2018
9
Retroperitoneal laparoscopic nephron sparing surgery for large renal angiomyolipoma: Our technique and experience. A case series of 41 patients. ( 29723675 )
2018
10
Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )
2018
11
Gemstone spectral imaging dual-energy computed tomography for differentiation of renal cell carcinoma and minimal-fat renal angiomyolipoma. ( 29970695 )
2018
12
Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )
2018
13
Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction<sup/>. ( 29885779 )
2018
14
Factors associated with the number and size of renal angiomyolipomas in sporadic angiomyolipoma (sAML): a study of adult patients with sAML managed in a Dutch tertiary referral center. ( 29333579 )
2018
15
Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )
2018
16
A rare case of renal angiomyolipoma involved both inferior vena cava and pulmonary arteries. ( 29707365 )
2018
17
Giant renal angiomyolipoma: A case report. ( 28781806 )
2017
18
Recurrent, Giant Renal Angiomyolipoma Treated with Selective Arterial Embolization: A Case Report. ( 29275410 )
2017
19
Intermittent everolimus administration for renal angiomyolipoma associated with tuberous sclerosis complex. ( 28905429 )
2017
20
The sunburst sign in renal angiomyolipoma. ( 28828502 )
2017
21
Renal Angiomyolipoma With Incidental Oncocytoma: A Case Report and Review of Literature. ( 29088523 )
2017
22
Ascending cholangitis: rare presentation of a ruptured right-sided renal angiomyolipoma. ( 29026516 )
2017
23
Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees. ( 29344138 )
2017
24
Healthcare utilization and costs in patients with tuberous sclerosiscomplex-related renal angiomyolipoma. ( 27998195 )
2017
25
Effect of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: an evaluation based on tumor density. ( 29256023 )
2017
26
Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report. ( 29344140 )
2017
27
Efficacy of Everolimus for Treating Renal Angiomyolipoma with Inferior Vena Cava Thrombus Associated with Tuberous Sclerosis: A Case Report. ( 28083476 )
2017
28
Are We Overtreating Renal Angiomyolipoma: A Review of the Literature and Assessment of Contemporary Management and Follow-Up Strategies. ( 29260305 )
2017
29
Retroperitoneal extrarenal angiomyolipoma at the surgical bed 8 years after a renal angiomyolipoma nephrectomy: A case report and review of literature. ( 28794601 )
2017
30
Laparoscopic partial nephrectomy with prior superselective embolisation as treatment for giant renal angiomyolipoma. ( 28803678 )
2017
31
Spontaneous rupture of renal angiomyolipoma during pregnancy. ( 28062422 )
2017
32
Renal angiomyolipoma without visible fat: Can we make the diagnosis using CT and MRI? ( 28779401 )
2017
33
Editorial Comment to Intermittent everolimus administration for renal angiomyolipoma associated with tuberous sclerosis complex. ( 28905424 )
2017
34
Cryoablation of Renal Angiomyolipoma: An Evaluation of Safety and Efficacy. ( 28830229 )
2017
35
Renal Angiomyolipoma: Radiologic Classification and Imaging Features According to the Amount of Fat. ( 28726505 )
2017
36
Laparoscopic Radiofrequency Ablation Combined with Surgical Excision for Exophytic Renal Angiomyolipoma: A Novel Technique Based on Tumor Vasculature Features of Enhancing Renal Masses Toward Hilar Off-Clamping Nephron-Sparing Surgery. ( 27805457 )
2016
37
Giant bilateral sporadic renal angiomyolipoma. ( 27160876 )
2016
38
Outcomes of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: A single institution experience in Japan. ( 27480662 )
2016
39
Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy. ( 27595512 )
2016
40
Editorial Comment to Outcomes of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: A single institution experience in Japan. ( 27572892 )
2016
41
Invasive Renal Angiomyolipoma With Cytologic Atypia: A Diagnostic Conundrum. ( 27596442 )
2016
42
Partial Nephrectomy for a Massive Sporadic Renal Angiomyolipoma: Case Report and Review of the Literature. ( 28070443 )
2016
43
Not All Acute Abdomen Cases in Early Pregnancy Are Ectopic; Expect the Unexpected: Renal Angiomyolipoma Causing Massive Retroperitoneal Haemorrhage. ( 27429809 )
2016
44
A Giant Intra Abdominal Mass Mimicking Renal Cell Carcinoma: A Rare Presentation of Renal Angiomyolipoma. ( 27612907 )
2016
45
Long-Term Clinical Morbidity in Patients with Renal Angiomyolipoma Associated with Tuberous Sclerosis Complex. ( 27132503 )
2016
46
The impact of renal angiomyolipoma on estimated glomerular filtration rate in patients with tuberous sclerosis complex. ( 27710989 )
2016
47
Re: Jaimin R. Bhatt, Patrick O. Richard, Nicole S. Kim, et al. Natural History of Renal Angiomyolipoma (AML): Most Patients with Large AMLs &amp;gt;4cm Can Be Offered Active Surveillance as an Initial Management Strategy. Eur Urol 2016;70:85-90. ( 27769715 )
2016
48
Hemorrhagic Renal Angiomyolipoma in Pregnancy Effectively Managed by Immediate Cesarean Section and Elective Transcatheter Arterial Embolization: A Case Report. ( 27579420 )
2016
49
Natural History of Renal Angiomyolipoma (AML): Most Patients with Large AMLs &amp;gt;4cm Can Be Offered Active Surveillance as an Initial Management Strategy. ( 26873836 )
2016
50
(P016) Bilateral Giant Renal Angiomyolipomas and Lung Leiomyomas Associated With Tuberous Sclerosis: A Case Report. ( 27083655 )
2016

Variations for Kidney Angiomyolipoma

ClinVar genetic disease variations for Kidney Angiomyolipoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.359T> C (p.Leu120Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 132925591: 132925591
2 TSC1 NM_000368.4(TSC1): c.359T> C (p.Leu120Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 135800978: 135800978

Expression for Kidney Angiomyolipoma

Search GEO for disease gene expression data for Kidney Angiomyolipoma.

Pathways for Kidney Angiomyolipoma

Pathways related to Kidney Angiomyolipoma according to KEGG:

37
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

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

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 MTOR RHEB TSC1 TSC2
2
Show member pathways
12.84 MTOR RHEB TSC1 TSC2
3
Show member pathways
12.78 MTOR RHEB TSC1 TSC2
4
Show member pathways
12.77 MTOR RHEB TSC1 TSC2
5
Show member pathways
12.7 MTOR RHEB TSC1 TSC2
6
Show member pathways
12.52 MTOR TSC1 TSC2
7
Show member pathways
12.43 MTOR RHEB TSC2
8
Show member pathways
12.38 MTOR RHEB TSC1 TSC2
9
Show member pathways
12.31 MTOR RHEB TSC1 TSC2
10
Show member pathways
12.28 MTOR RHEB TSC1 TSC2
11
Show member pathways
12.26 MTOR RHEB TSC1 TSC2
12
Show member pathways
12.14 MTOR TSC1 TSC2
13 12.12 FLCN MTOR TSC1 TSC2
14
Show member pathways
12.05 MTOR TSC1 TSC2
15 12.02 MTOR RHEB TSC1 TSC2
16 12.01 MTOR RHEB TSC1 TSC2
17 11.98 MTOR RHEB TSC1 TSC2
18
Show member pathways
11.97 MTOR RHEB TSC2
19
Show member pathways
11.96 MTOR RHEB TSC1 TSC2
20
Show member pathways
11.93 MTOR RHEB TSC1 TSC2
21
Show member pathways
11.88 MTOR RHEB TSC2
22 11.86 MTOR RHEB TSC2
23 11.83 MTOR TSC1 TSC2
24 11.81 MTOR RHEB TSC1 TSC2
25
Show member pathways
11.77 MTOR RHEB TSC1 TSC2
26 11.74 RHEB TSC1 TSC2
27
Show member pathways
11.74 MTOR RHEB TSC1 TSC2
28
Show member pathways
11.61 MTOR TSC2
29
Show member pathways
11.56 FLCN FNIP1 MTOR RHEB TSC1 TSC2
30 11.55 MTOR RHEB TSC1 TSC2
31 11.48 MTOR TSC1 TSC2
32 11.35 MTOR TSC1 TSC2
33 11.34 TSC1 TSC2
34 11.33 MTOR TSC2
35 11.24 MTOR RHEB TSC1 TSC2
36 11.18 MTOR RHEB TSC2
37 11.04 MTOR RHEB TSC2
38 10.89 MTOR TSC1
39 10.79 MTOR RHEB TSC1 TSC2

GO Terms for Kidney Angiomyolipoma

Cellular components related to Kidney Angiomyolipoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.5 FLCN FNIP1 KANK1 MTOR RHEB TSC1
2 lysosome GO:0005764 9.33 FLCN MTOR TSC2
3 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.69 FLCN FNIP1 MTOR
2 neural tube closure GO:0001843 9.62 TSC1 TSC2
3 response to insulin GO:0032868 9.61 MTOR TSC1
4 regulation of actin cytoskeleton organization GO:0032956 9.61 MTOR TSC1
5 regulation of macroautophagy GO:0016241 9.6 MTOR RHEB
6 cellular response to starvation GO:0009267 9.59 FNIP1 MTOR
7 negative regulation of neuron projection development GO:0010977 9.58 KANK1 TSC1
8 negative regulation of protein kinase B signaling GO:0051898 9.58 FLCN TSC2
9 positive regulation of stress fiber assembly GO:0051496 9.57 MTOR TSC1
10 regulation of protein kinase activity GO:0045859 9.56 MTOR TSC1
11 positive regulation of TOR signaling GO:0032008 9.55 FLCN RHEB
12 positive regulation of macroautophagy GO:0016239 9.54 TSC1 TSC2
13 regulation of protein phosphorylation GO:0001932 9.54 FLCN FNIP1 MTOR
14 negative regulation of Rho protein signal transduction GO:0035024 9.52 FLCN KANK1
15 regulation of TOR signaling GO:0032006 9.49 FLCN RHEB
16 positive regulation of oligodendrocyte differentiation GO:0048714 9.48 MTOR RHEB
17 negative regulation of macroautophagy GO:0016242 9.46 MTOR TSC1
18 cell cycle arrest GO:0007050 9.46 MTOR RHEB TSC1 TSC2
19 anoikis GO:0043276 9.43 MTOR TSC2
20 negative regulation of insulin receptor signaling pathway GO:0046627 9.43 KANK1 TSC1 TSC2
21 negative regulation of cell size GO:0045792 9.4 MTOR TSC1
22 regulation of pro-B cell differentiation GO:2000973 9.32 FLCN FNIP1
23 TOR signaling GO:0031929 9.13 FLCN FNIP1 MTOR
24 negative regulation of TOR signaling GO:0032007 8.92 FLCN FNIP1 TSC1 TSC2

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

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 9.16 TSC1 TSC2
2 binding GO:0005488 9.13 MTOR TSC1 TSC2
3 ATPase inhibitor activity GO:0042030 8.62 FNIP1 TSC1

Sources for Kidney Angiomyolipoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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