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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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, Tongue, Small intestine, Breast, Lymph node, Adrenal gland, T cells, Testes, Ovary, Skin, Adipocyte, Thyroid, Bone

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
Immunohistochemical character of hepatic angiomyolipoma: for its management. (23864864)
2013
2
Renal epithelioid angiomyolipoma: a rare variant with unusual behavior. (23928927)
2013
3
Epithelioid angiomyolipoma of the kidney: radiological imaging. (23551572)
2013
4
Hepatic angiomyolipoma: CT and MR imaging findings with clinical-pathologic comparison. (22996326)
2013
5
Calcified, minimally fat-contained angiomyolipoma clinically indistinguishable from a renal cell carcinoma. (23876081)
2013
6
Renal angiomyolipoma with coexistent hemorrhagic aneurysm formation and fatty thrombus in inferior vena cava: a rare presentation. (22450723)
2013
7
Similar trends in serum VEGF-D levels and kidney angiomyolipoma responses with longer duration sirolimus treatment in adults with tuberous sclerosis. (23437092)
2013
8
Nephron-sparing resection of angiomyolipoma after sirolimus pretreatment in patients with tuberous sclerosis. (23054313)
2012
9
Rupturing of renal angiomyolipoma due to physical examination. (22744261)
2012
10
Minimal fat renal angiomyolipoma: the initial study with contrast-enhanced ultrasonography. (22906749)
2012
11
Malignant epithelioid angiomyolipoma of the kidney with pulmonary metastases and p53 gene mutation. (23043633)
2012
12
The efficacy, safety and durability of selective renal arterial embolization in treating symptomatic and asymptomatic renal angiomyolipoma. (21131030)
2011
13
Aggressive renal angiomyolipoma extending into the renal vein and inferior vena cava - an uncommon entity. (21750135)
2011
14
Malignant angiomyolipoma: a rare entity with unusual biology. (21936446)
2011
15
Epidermal growth factor receptor positivity in angiomyolipoma contiguous to renal cell carcinoma: report of two cases with immunohistochemical analysis. (21325256)
2011
16
A rare benign laryngeal tumor: angiomyolipoma. (21119467)
2010
17
Hemodynamic characterization of hepatic angiomyolipoma with least amount of fat evaluated by contrast-enhanced magnetic resonance angiography. (19319591)
2010
18
Giant aneurysm formation in sporadic renal angiomyolipoma. (22470737)
2010
19
Low-dose rapamycin reduces kidney volume angiomyolipomas and prevents the loss of renal function in a patient with tuberous sclerosis complex. (20663789)
2010
20
Unusual sonographic appearance of a huge angiomyolipoma of the liver. (20232406)
2010
21
Highly aggressive epithelioid renal angiomyolipoma with a very poor prognosis. (20368102)
2010
22
Laparoscopic nephron-sparing surgery in the management of angiomyolipoma: a single center experience. (20423289)
2010
23
Epithelioid angiomyolipoma of the kidney. (19121090)
2009
24
Onyx embolization of sporadic angiomyolipoma. (19083054)
2009
25
Visualization of renal angiomyolipoma on F-18 FDG PET/CT. (19617741)
2009
26
Renal angiomyolipoma associated with inferior vena cava thrombus. (20029673)
2009
27
Homozygous structural rearrangement 16p13: a mechanism of tumorigenesis in sporadic renal angiomyolipoma? (19288555)
2009
28
Embolization of renal angiomyolipoma: immediate complications and long-term outcomes. (18625350)
2008
29
Absolute alcohol embolization of sporadic angiomyolipoma. (21326521)
2008
30
Wunderlich's syndrome with hepatic angiomyolipoma in tuberous sclerosis. (18626151)
2008
31
Giant renal angiomyolipoma with fatal hemorrhage due to a large pseudoaneurysm. (17636505)
2008
32
Renal angiomyolipoma with intravascular extension into the inferior vena cava: a case report and review of the literature. (18405452)
2008
33
Differential expression of melanocytic markers in myoid, lipomatous, and vascular components of renal angiomyolipomas. (17227112)
2007
34
Simple enucleation for the treatment of renal angiomyolipoma. (17233805)
2007
35
The association of pulmonary lymphangioleiomyomatosis with renal and hepatic angiomyolipomas in a prepubertal girl: a previously unreported entity. (15988170)
2007
36
Sporadic oral angiomyolipoma. Case report. (17767105)
2007
37
Increasing severity of haematuria with successive pregnancies in a woman with renal angiomyolipoma. (17171420)
2007
38
A dilemma in treating angiomyolipoma in a horseshoe kidney. (16995348)
2006
39
Angiomyolipoma in the colon. (16923501)
2006
40
Retroperitoneal lipomatous angiomyolipoma associated with amyloid deposition masquerading as well-differentiated liposarcoma. (16984623)
2006
41
Fine-needle aspiration of renal angiomyolipoma: cytological findings and diagnostic pitfalls in a series of five cases. (15584043)
2005
42
Traumatic rupture of renal angiomyolipoma managed with angioembolization followed by elective surgery: a report of two cases. (16361922)
2005
43
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
44
Renal angiomyolipoma in Japanese tuberous sclerosis patients. (15616929)
2004
45
Pulmonary lymphangioleiomyomatosis and multiple hepatic angiomyolipomas in a man. (12675767)
2003
46
An unusual renal angiomyolipoma with morphological lymphangioleiomyomatosis features and coexpression of oestrogen and progesterone receptors. (11942568)
2002
47
Hepatic angiomyolipoma: a clinicopathologic study of 10 cases. (11780314)
2001
48
Malignant angiomyolipoma of the liver: a hitherto unreported variant. (10792486)
2000
49
Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. (9688188)
1998
50
Giant hepatic angiomyolipoma. (2599515)
1989

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

Compounds for genes affiliated with Angiomyolipoma

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

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

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