MCID: ANG018
MIFTS: 54

Angiomyolipoma malady

Summaries for Angiomyolipoma

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Angiomyolipomas are the most common benign tumour of the kidney and are composed of blood vessels,... more...

MalaCards: Angiomyolipoma is related to tuberous sclerosis and kidney angiomyolipoma. An important gene associated with Angiomyolipoma is TSC1 (tuberous sclerosis 1), and among its related pathways are p70S6K Signaling and Inhibition of TSC complex formation by PKB. The compounds orcein and monochloroacetic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related mouse phenotypes are muscle and endocrine/exocrine gland.

Disease Ontology:8 A cell type benign neoplasm that from perivascular epithelioid cells.

Aliases & Classifications for Angiomyolipoma

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

angiomyolipoma 8 10 44 60


External Ids:

Disease Ontology8 DOID:3314
NCIt39 C3734
SNOMED-CT56 19929002
MeSH34 D018207

Related Diseases for Angiomyolipoma

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17GeneCards, 18GeneDecks
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Diseases related to Angiomyolipoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 201)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis31.2TSC2, TSC1, RHEB, MTOR, CCL26, VIM
2kidney angiomyolipoma31.1TSC2, TSC1, MTOR
3lymphangioleiomyomatosis31.0DES, TSC1, TSC2
4hepatocellular carcinoma30.6RPS6KB1, MTOR
5renal clear cell carcinoma30.3MTOR, S100A1, VIM
6papillary carcinoma30.3ACTC1, PGR, S100A1
7renal oncocytoma30.2S100A1
8liposarcoma30.2TYR, DES, VIM
9hemangioma30.1ACTC1
10astrocytoma30.1VIM, TSC1, TSC2
11subependymal giant cell astrocytoma30.1TSC2, TSC1, MTOR
12perivascular epithelioid cell tumor30.1TSC2, MITF, RHEB, MLANA
13sarcoma30.1PTPRC, ACTC1, KIT, TYR, DES, MTOR
14melanoma30.1MLANA, S100A1, IFNG, VIM, PMEL, MTOR
15cystic kidney30.0CCL26, TSC1, TSC2
16microphthalmia30.0PMEL, MLANA, TYR, MITF, KIT, ACTC1
17pneumothorax29.8TSC1
18lipoma29.8DES, S100A1
19adenoma29.8S100A1, ACTC1, TSC1
20polycystic kidney disease, autosomal dominant29.8MTOR, TSC1, TSC2
21neurofibromatosis29.8TSC2, TSC1, KIT
22giant cell tumor29.8VIM, DES, MITF, ACTC1, PTPRC
23synovial sarcoma29.8VIM, DES, KIT
24polycystic kidney disease29.7TSC2, MTOR
25rhabdomyosarcoma29.7RPS6KB1, VIM, S100A1, DES, ACTC1, PTPRC
26hepatic angiomyolipoma10.9
27hepatitis10.9
28hepatitis a10.7
29renal cell carcinoma10.7
30pulmonary embolism10.2
31papillary renal cell carcinoma10.2
32childhood kidney angiomyolipoma10.2
33mediastinitis10.2
34epithelioid type angiomyolipoma10.1
35small cell carcinoma10.1
36multiple sclerosis10.1
37perivascular tumor10.1
38hemangioma of liver10.0
39liver inflammatory pseudotumor10.0
40intussusception10.0
41duodenitis10.0
42kidney disease10.0
43kidney sarcoma10.0
44pancreatitis10.0
45pheochromocytoma10.0
46tsc2 angiomyolipomas, renal, modifier of10.0
47kidney cancer10.0MTOR
48leiomyomatosis10.0PGR
49esophagitis10.0CCL26
50fasciitis10.0ACTC1

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to angiomyolipoma

Clinical Features for Angiomyolipoma

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Drugs & Therapeutics for Angiomyolipoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Angiomyolipoma

Drug clinical trials:

Search ClinicalTrials for Angiomyolipoma

Search NIH Clinical Center for Angiomyolipoma

Search CenterWatch for Angiomyolipoma

Genetic Tests for Angiomyolipoma

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Anatomical Context for Angiomyolipoma

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32MalaCards
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MalaCards organs/tissues related to Angiomyolipoma:

32
Kidney, Liver, Lung, Smooth muscle, Colon, Small intestine, Tongue, Breast, Adrenal gland, Lymph node, Adipocyte, Thyroid, T cells, Bone, Ovary, Skin, Testes

Animal Models for Angiomyolipoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Angiomyolipoma:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.6TSC1, ACTC1, RRAD, RHEB
2MP:000537910.5RPS6KB1, IFNG, TYR, KIT
3MP:000538010.4VIM, RHEB, TYR, PGR, TSC1, TSC2
4MP:001077110.4PMEL, TYR, MITF, TSC1, TSC2
5MP:000538910.4RPS6KB1, TYR, MITF, TSC1, TSC2
6MP:000118610.3PMEL, MLANA, MITF
7MP:000200610.3RPS6KB1, IFNG, TYR, PGR, KIT, PTPRC
8MP:000301210.2PMEL, IFNG, MLANA, MTOR, TYR, MITF
9MP:000539010.2IFNG, MTOR, TYR, MITF, PGR, KIT
10MP:000287310.1IFNG, S100A1, MTOR, RHEB, TYR, MITF
11MP:000537010.1IFNG, KIT, PTPRC, TSC1, TSC2, RPS6
12MP:000538610.1VIM, IFNG, S100A1, MTOR, DES, TYR
13MP:000536710.1IFNG, MTOR, TYR, KIT, PTPRC, TSC1
14MP:000363110.1RHEB, TYR, KIT, PTPRC, TSC1
15MP:000538510.0RPS6KB1, VIM, IFNG, S100A1, RHEB, DES
16MP:000537810.0RHEB, MTOR, IFNG, VIM, RPS6KB1, TYR
17MP:000538410.0MTOR, IFNG, VIM, RPS6, RPS6KB1, RHEB
18MP:000538710.0RPS6KB1, VIM, IFNG, MTOR, RHEB, TYR
19MP:001076810.0DES, RHEB, MTOR, IFNG, VIM, RPS6KB1
20MP:00053769.8RHEB, MTOR, IFNG, VIM, RPS6, RPS6KB1
21MP:00053979.6PMEL, RPS6KB1, IFNG, MTOR, MITF, PGR

Publications for Angiomyolipoma

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50PubMed
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Articles related to Angiomyolipoma:

(show top 50)    (show all 636)
idTitleAuthorsYear
1
Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome) due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment? (24106637)
2013
2
Bilateral papillary renal cell carcinoma and angiomyolipoma in the patients with autosomal dominant polycystic kidney disease: case report of two cases and literature review. (24375046)
2013
3
Renal angiomyolipoma - sarcomatous transformation and cavoatrial extension. (24426695)
2013
4
A singular case of intravesical bleeding angiomyolipoma in a bladder diverticulum. (23671502)
2013
5
Testicular infarction after angioembolization of an ipsilateral renal angiomyolipoma. (23978372)
2013
6
Malignant Renal Angiomyolipoma With Metastases in a Child. (23975831)
2013
7
Anterior mediastinal angiomyolipoma. (23522204)
2013
8
A case of renal angiomyolipoma with intracardiac extension and asymptomatic pulmonary embolism. (23696940)
2013
9
Retroperitoneal angiomyolipoma: a case report and review of the literature. (24303222)
2013
10
Multiple Perivascular Epithelioid Cell Tumors: Clear Cell Tumor of the Lung Accompanied by Angiomyolipoma of the Liver. (23603639)
2013
11
An unusual appearance of renal epithelioid angiomyolipoma. (23112030)
2012
12
Dual-tracer PET/CT in renal angiomyolipoma and subtypes of renal cell carcinoma. (22996247)
2012
13
Hepatic epithelioid angiomyolipoma with trabecular growth pattern: a mimic of hepatocellular carcinoma on fine needle aspiration cytology. (21563318)
2012
14
Histogram analysis of small solid renal masses: differentiating minimal fat angiomyolipoma from renal cell carcinoma. (22268181)
2012
15
Hepatic angiomyolipoma: diagnostic findings and management. (23320180)
2012
16
A massive renal epithelioid angiomyolipoma with multiple metastatic lymph nodes. (21724128)
2011
17
Giant bilateral renal angiomyolipomas and lymphangioleiomyomatosis presenting after two successive pregnancies successfully treated with surgery and rapamycin. (22125460)
2011
18
A case of angiomyolipoma arising in the tongue. (22937390)
2011
19
Conservative management of a retroperitoneal hemorrhage following a ruptured renal angiomyolipoma in pregnancy. (21159033)
2011
20
Dramatic tumor response to everolimus for malignant epithelioid angiomyolipoma. (21415002)
2011
21
11C-acetate PET/CT in multicentric angiomyolipoma of the kidney. (21467870)
2011
22
A case of giant, isolated renal angiomyolipoma in an elderly female. (21341630)
2010
23
Time to abandon the term angiomyolipoma for non-PEComatous angiomyomatous (or angiomatous) oral tumors with adipocytes. (20674420)
2010
24
Angiomyolipoma with epithelial cysts: mimic of renal cell carcinoma. (20122523)
2010
25
Hepatic angiomyolipoma: dynamic computed tomography features and clinical correlation. (19610144)
2009
26
T-cell co-regulatory molecule expression in renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. (19501877)
2009
27
Epithelioid angiomyolipoma of the kidney mimicking renal cell carcinoma: a clinicopathologic analysis of cases and literature review. (19419918)
2009
28
Clinical challenges and images in GI. Diagnosis: Hepatic angiomyolipoma mimicking hepatocellular carcinoma. (19254682)
2009
29
Editorial comment on: Renal angiomyolipoma: long-term results following selective arterial embolization. (19645090)
2009
30
Metastatic breast carcinoma to renal angiomyolipomas in tuberous sclerosis. (18308125)
2008
31
CT histogram analysis: differentiation of angiomyolipoma without visible fat from renal cell carcinoma at CT imaging. (18094264)
2008
32
In vivo partial nephrectomy of angiomyolipoma with concurrent transplantation. (18706149)
2008
33
Radiology corner. Angiomyolipoma. (18251343)
2008
34
Dramatic effect of sirolimus on renal angiomyolipomas in a patient with tuberous sclerosis complex. (17223050)
2007
35
Invasive growth of hepatic angiomyolipoma; a hitherto unreported ominous histological feature. (16722932)
2006
36
Antitumoral activity of rapamycin in renal angiomyolipoma associated with tuberous sclerosis complex. (16931204)
2006
37
Re: Renal angiomyolipoma--long-term results after arterial embolization. (16105930)
2005
38
Imaging characteristics of minimal fat renal angiomyolipoma with histologic correlations. (16360431)
2005
39
Colonic angiomyolipoma with a monotypic expression and a predominant epithelioid component. (16189161)
2005
40
Pulmonary angiomyolipoma recurring 26 years after nephrectomy for angiomyolipoma: benign clinical course. (15630908)
2004
41
Pathologic quiz case: a 44-year-old woman with an incidental asymptomatic renal mass. Atypical epithelioid angiomyolipoma. (15387699)
2004
42
Hepatic angiomyolipoma with concomitant hepatocellular carcinomas. (11268978)
2001
43
Association of cystic nephroma with angiomyolipoma in the same kidney. (10982023)
2000
44
Hepatic angiomyolipoma: a clinicopathologic study of 30 cases and delineation of unusual morphologic variants. (9888702)
1999
45
Hepatic angiomyolipoma in a 26-year-old Caucasian woman with a history of tibial osteosarcoma. (10605697)
1999
46
Cytokine production in primary histoculture by human normal kidney, renal cell carcinoma and benign renal angiomyolipoma tissues. (9891467)
1998
47
Spontaneous rupture of a hepatic angiomyolipoma: CT findings and literature review. (9087353)
1997
48
Hepatic angiomyolipoma with minimal fat content: MR demonstration. (8897374)
1996
49
Coexisting lymphangioleiomyomatosis and bilateral angiomyolipomas in a patient with tuberous sclerosis. (8189576)
1994
50
Intratumoral fat in a renal oncocytoma mimicking angiomyolipoma. (2105020)
1990

Genetic Variations for Angiomyolipoma

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Expression for genes affiliated with Angiomyolipoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Angiomyolipoma

Search GEO for disease gene expression data for Angiomyolipoma.

Pathways for genes affiliated with Angiomyolipoma

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Sources:
51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 52R&D Systems, 4Cell Signaling Technology
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Pathways related to Angiomyolipoma according to GeneCards/GeneDecks:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4RHEB
210.4TSC2, TSC1
310.3TSC2, TSC1, MTOR
410.3RPS6KB1, TSC1, TSC2
5
Hide members
10.3ACTC1, DES, VIM
6
Transcription Androgen Receptor nuclear signaling
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10.3MTOR, RPS6KB1, TSC2
710.3RPS6KB1, IFNG, MTOR
810.3MTOR, CCL26, RPS6KB1
9
Hide members
10.3RPS6KB1, RHEB, MTOR
10
Hide members
10.3MITF, KIT, RPS6KB1
1110.3MTOR, RPS6KB1, RPS6
1210.3MTOR, RPS6KB1, RPS6
13
Hide members
10.3IFNG, RPS6, RPS6KB1
1410.3RPS6KB1, IFNG, RPS6
1510.3TSC2, TSC1, MTOR, RPS6KB1
16
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10.3TSC2, TSC1, MITF, MTOR
17
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10.3PGR, MTOR, KIT, TSC2
1810.3TSC2, MTOR, RHEB, TSC1
1910.3MTOR, RHEB, TSC2, TSC1
20
Development Endothelin-1/EDNRA signaling
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10.2TSC2, RPS6KB1, RHEB, MTOR
21
Translation Translation regulation by Alpha-1 adrenergic receptors
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10.2RPS6KB1, TSC2, RHEB, MTOR
2210.2TSC2, MTOR, RPS6, RPS6KB1
2310.2MTOR, IFNG, RPS6, RPS6KB1
24
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10.2VIM, RPS6KB1, TSC1, KIT, TSC2
25
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10.2RPS6KB1, KIT, TSC1, TSC2, CCL26
26
Hide members
10.2RPS6KB1, RPS6, MTOR, RHEB
2710.2TSC1, TSC2, RHEB, MTOR, RPS6KB1
2810.2RHEB, TSC1, MTOR, RPS6KB1, TSC2
2910.2TSC2, TSC1, MTOR, RPS6, RPS6KB1
30
Hide members
10.2MTOR, RHEB, KIT, TSC2, RPS6KB1
31
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10.2KIT, IFNG, CCL26, RPS6KB1, RPS6
3210.2TSC2, RHEB, RPS6, RPS6KB1, MTOR
3310.1TSC2, TSC1, RRAD, RHEB, RPS6KB1, MTOR
34
Hide members
10.1RPS6KB1, RPS6, MTOR, RHEB, TSC1, TSC2
35
Hide members
10.1TSC2, RPS6KB1, RPS6, RHEB, TSC1, MTOR
36
Translation Insulin regulation of translation
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10.1RHEB, MTOR, RPS6, TSC1, RPS6KB1, TSC2
37
Hide members
10.1MTOR, TSC2, RPS6KB1, RPS6, RHEB, TSC1
38
Hide members
10.1CCL26, VIM, RHEB, DES, KIT, TSC2
3910.0RHEB, TSC2, TSC1, RPS6KB1, MTOR, RPS6
40
Hide members
10.0TSC2, KIT, RHEB, PGR, TSC1, MTOR

Compounds for genes affiliated with Angiomyolipoma

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Angiomyolipoma according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1orcein4410.7DES, ACTC1, VIM
2monochloroacetic acid4410.7PTPRC, KIT, VIM
3s 1004410.7DES, ACTC1, VIM
4mucicarmine4410.7VIM, S100A1, DES, ACTC1
5dopachrome4410.6TYR, PMEL, MITF
6dexamethasone44 49 28 1113.6PTPRC, RPS6KB1, MTOR, TYR
7b 7234410.6PTPRC, DES, S100A1, VIM, ACTC1
8toluidine4410.6PTPRC, VIM, S100A1, DES, KIT
92-methoxyethanol4410.6ACTC1, VIM, S100A1
10glucose4410.6RRAD, RHEB, TSC1, ACTC1, TSC2
11reticulin4410.6ACTC1, DES, VIM
12everolimus49 44 1112.6KIT, RPS6KB1, MTOR
13cycloheximide4410.6TYR
14formaldehyde44 2411.5VIM, DES, KIT, ACTC1, TYR, PTPRC
15resveratrol44 59 11 2413.5RPS6KB1, RPS6, MTOR, PGR, TYR
16fluorochrome4410.5VIM, KIT, PTPRC
17imatinib44 49 1112.5MTOR, KIT, ACTC1, DES, RPS6
18tacrolimus44 49 1112.5PGR, MTOR, IFNG, RPS6KB1, MITF
1912-o-tetradecanoylphorbol 13-acetate4410.5DES, MTOR, VIM, RPS6KB1, MITF, PTPRC
20dmso4410.5RPS6KB1, VIM, TYR, PGR, PTPRC
21hematoxylin4410.5DES, KIT, ACTC1, PTPRC, S100A1, VIM
22doxorubicin44 49 1112.5VIM, MTOR, DES, TYR, PGR, KIT
23phosphoinositide4410.5TSC2, RPS6KB1, VIM, MTOR, RHEB, KIT
24steroid4410.5MLANA, DES, TSC2, ACTC1, MTOR
25genistein44 28 59 2 11 2415.5RPS6KB1, IFNG, MTOR, TYR, PTPRC, PGR
26serine4410.5TYR, DES, TSC1, TSC2, RRAD, RPS6
27silver4410.5DES, S100A1, PMEL, MITF
28glycogen44 2411.5TSC1, MTOR, RPS6, RPS6KB1, TSC2, KIT
29biotin44 11 2412.4ACTC1, DES, S100A1, VIM
30leucine4410.4RPS6KB1, KIT, MITF, MTOR, VIM, RPS6
31paclitaxel44 49 1112.4RPS6KB1, PGR, TYR
32testosterone44 59 11 2413.4VIM, MTOR, KIT, TSC2, DES, PGR
33arginine4410.4MITF, TSC2, RHEB, VIM, IFNG, MTOR
34progesterone44 59 28 11 2414.4VIM, DES, S100A1, KIT, PGR, ACTC1
35methionine4410.4RPS6, KIT, DES, VIM, PTPRC
36oxygen44 2411.4RPS6KB1, MITF, TSC2, CCL26, MTOR, DES
37threonine4410.4MTOR, DES, RRAD, KIT, PTPRC, TSC1
38kojic acid4410.3TYR, MITF
39cysteine4410.3CCL26, PGR, KIT, TYR, DES, S100A1
40rapamycin4410.3KIT, RHEB, MTOR, TSC1, RPS6KB1, TSC2
41phosphatidylinositol4410.3MTOR, KIT, PTPRC, TSC1, RPS6KB1, TSC2
42retinoic acid44 2411.3VIM, RPS6KB1, RPS6, IFNG, DES, KIT
43vegf4410.3RPS6, VIM, IFNG, MTOR, DES, RPS6KB1
44paraffin4410.2VIM, S100A1, MLANA, DES, TYR, ACTC1
45wortmannin4410.2VIM, RPS6, TSC2, RPS6KB1, MTOR
46tyrosine4410.2KIT, MITF, MTOR, RPS6KB1, RPS6, S100A1
47atp44 2811.1CCL26, MTOR, KIT, VIM, RPS6, TSC2
48calcium44 49 11 2413.1S100A1, DES, MTOR, RRAD, KIT, ACTC1
49ly2940024410.1TSC2, TYR, MTOR, RPS6, RPS6KB1
50actomyosin4410.0VIM, S100A1, ACTC1

GO Terms for genes affiliated with Angiomyolipoma

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16Gene Ontology
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Cellular components related to Angiomyolipoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.3TSC1, TSC2
2melanosomeGO:04247010.3TYR, MLANA, PMEL
3cytosolGO:0058299.7TSC2, RPS6KB1, RPS6, VIM, MTOR, RHEB

Biological processes related to Angiomyolipoma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.5MTOR, TSC1, TSC2
2TOR signaling cascadeGO:03192910.4MTOR, RPS6, RPS6KB1
3cell cycle arrestGO:00705010.3IFNG, RHEB, TSC1, TSC2
4insulin receptor signaling pathwayGO:00828610.3TSC2, TSC1, RHEB, MTOR, RPS6, RPS6KB1
5phosphatidylinositol-mediated signalingGO:04801510.3TSC2, KIT, MTOR, RPS6KB1
6muscle filament slidingGO:03004910.2VIM, DES, ACTC1
7signal transductionGO:00716510.1KIT, PGR, RHEB, MTOR, CCL26, RPS6KB1
8positive regulation of tyrosine phosphorylation of Stat1 proteinGO:04251110.1KIT, IFNG

Molecular functions related to Angiomyolipoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.4TSC2, RPS6KB1, RPS6, VIM, S100A1, MLANA

Products for genes affiliated with Angiomyolipoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Angiomyolipoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet