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MCID: ANG018
MIFTS: 45

Angiomyolipoma

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

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MalaCards integrated aliases for Angiomyolipoma:

Name: Angiomyolipoma 11 53 43 14 71 75
Angiomyolipoma of Kidney 71

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:3314
MeSH 43 D018207
NCIt 49 C3734
SNOMED-CT 68 19929002
UMLS 71 C0206633 C0241961
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Summaries for Angiomyolipoma

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Disease Ontology: 11 A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.

MalaCards based summary: Angiomyolipoma, also known as angiomyolipoma of kidney, is related to tuberous sclerosis 1 and kidney angiomyolipoma. An important gene associated with Angiomyolipoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Signal Transduction and Signaling by Receptor Tyrosine Kinases. The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lymph node, and related phenotypes are Decreased cell number and homeostasis/metabolism

Wikipedia: 75 Angiomyolipomas are the most common benign tumour of the kidney. Although regarded as benign,... more...
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Related Diseases for Angiomyolipoma

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

(show top 50) (show all 653)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 32.1 TSC2 TSC1 CCL26
2 kidney angiomyolipoma 32.0 VEGFD TSC2 TSC1 TFE3 MTOR MLANA
3 hepatic angiomyolipoma 31.9 TSC2 TSC1 TFE3 MLANA MITF KIT
4 tuberous sclerosis 31.7 VIM TSC2 TSC1 MTOR MLANA CCL26
5 epithelioid type angiomyolipoma 31.2 TSC2 TSC1 TFE3 PAX8 MME MLANA
6 mesenchymal cell neoplasm 31.1 TFE3 MME MLANA KIT
7 collecting duct carcinoma 30.9 TFE3 PAX8 MME KRT7
8 lipomatosis, multiple 30.9 S100A1 MLANA KIT DES
9 subependymal giant cell astrocytoma 30.7 TSC2 TSC1 MTOR
10 liver lipoma 30.6 TSC2 TSC1
11 lymphangioleiomyomatosis 30.5 VEGFD TYR TSC2 TSC1 PGR MTOR
12 polycystic kidney disease 1 with or without polycystic liver disease 30.5 TSC2 TSC1 MTOR
13 cystic kidney disease 30.5 TSC2 TSC1 MTOR CCL26
14 pneumothorax 30.4 VIM TSC1 PGR DES ACTC1
15 oncocytoma 30.3 VIM S100A1 MME KRT7 KIT
16 angiolipoma 30.3 VIM TSC2 TSC1 MLANA DES ACTC1
17 epithelial-myoepithelial carcinoma 30.2 KRT7 KIT
18 lymphangiectasis 30.2 VIM ACTC1
19 angiosarcoma 30.1 VIM KIT ACTC1
20 bap1 tumor predisposition syndrome 30.1 TSC2 TSC1 MITF KIT
21 inherited cancer-predisposing syndrome 30.0 TSC2 TSC1 MITF KIT
22 epithelioid cell melanoma 30.0 TYR MLANA MITF
23 microphthalmia 29.9 TYR TFE3 MLANA MITF KIT ACTC1
24 dedifferentiated liposarcoma 29.9 KIT DES ACTC1
25 heart cancer 29.9 TSC2 TSC1 KRT7 KIT
26 hemangiopericytoma, malignant 29.9 VIM KIT DES ACTC1
27 neurofibromatosis, type i 29.8 TSC2 TSC1 MTOR KIT
28 retroperitoneal fibrosis 29.8 VIM PTPRC
29 inflammatory myofibroblastic tumor 29.8 TFE3 MLANA KIT
30 perivascular epithelioid cell tumor 29.8 TSC2 TSC1 TFE3 PAX8 MTOR MME
31 leiomyosarcoma 29.7 VIM S100A1 PGR MLANA KIT ESR1
32 leiomyoma 29.7 VIM TSC2 S100A1 PGR MME KIT
33 teratoma 29.7 VIM KRT7 KIT ESR1 ACTC1
34 intestinal obstruction 29.7 MTOR KRT7 KIT
35 hemangioma 29.7 VIM TSC2 TSC1 PGR MTOR KRT7
36 testicular cancer 29.7 TYR MLANA KIT ESR1
37 paraganglioma 29.6 VIM MLANA MITF KRT7 KIT
38 connective tissue benign neoplasm 29.6 TSC2 TSC1 MME MLANA KIT
39 sarcoma, synovial 29.6 VIM KRT7 KIT DES
40 xanthogranulomatous pyelonephritis 29.6 TFE3 MME KRT7
41 glomus tumor 29.6 VIM S100A1 KIT DES ACTC1
42 sarcoma 29.6 VIM TFE3 S100A1 PTPRC MTOR KIT
43 skin melanoma 29.6 TYR MTOR MLANA MITF KIT
44 renal oncocytoma 29.6 TFE3 S100A1 PAX8 MME KRT7 KIT
45 pheochromocytoma 29.5 VIM MME MITF KRT7 KIT ESR1
46 cystadenoma 29.5 PGR MME KRT7 KIT
47 sarcomatoid renal cell carcinoma 29.5 PAX8 MME MLANA KRT7 KIT
48 birt-hogg-dube syndrome 29.5 VEGFD TSC2 TSC1 TFE3 MTOR KRT7
49 thymoma 29.5 PTPRC MTOR KRT7 KIT
50 gastrointestinal stromal tumor 29.5 VIM S100A1 MTOR MLANA KIT ESR1

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to Angiomyolipoma
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Symptoms & Phenotypes for Angiomyolipoma

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GenomeRNAi Phenotypes related to Angiomyolipoma according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ACTC1 CCL26 DES ESR1 KIT KRT7
2 no effect GR00402-S-2 10.17 ACTC1 DES KIT KRT7 MLANA MME
3 Decreased cell number GR00303-A 9.26 CCL26 MTOR PAX8 VIM

MGI Mouse Phenotypes related to Angiomyolipoma:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 ACTC1 CCL26 DES ESR1 KIT KRT7
2 normal MP:0002873 10.39 ACTC1 ESR1 KIT MITF MTOR PAX8
3 nervous system MP:0003631 10.3 ACTC1 ESR1 KIT MITF MME MTOR
4 cellular MP:0005384 10.27 ACTC1 DES ESR1 KIT KRT7 MITF
5 renal/urinary system MP:0005367 10.21 ESR1 KIT KRT7 MITF MTOR PAX8
6 no phenotypic analysis MP:0003012 10.19 ESR1 KIT MITF MLANA MTOR PAX8
7 cardiovascular system MP:0005385 10.17 ACTC1 DES ESR1 KIT MTOR PAX8
8 neoplasm MP:0002006 10.16 ESR1 KIT PGR PTPRC TSC1 TSC2
9 behavior/neurological MP:0005386 10.16 ACTC1 CCL26 DES ESR1 KIT MITF
10 muscle MP:0005369 10.15 ACTC1 DES ESR1 KIT MTOR PGR
11 endocrine/exocrine gland MP:0005379 10.13 ESR1 KIT MITF MTOR PAX8 PGR
12 embryo MP:0005380 10.1 ESR1 KIT MITF MTOR PAX8 PGR
13 pigmentation MP:0001186 10.04 KIT MITF MLANA TFE3 TSC1 TYR
14 limbs/digits/tail MP:0005371 10.02 ESR1 KIT MITF MTOR PAX8 PGR
15 skeleton MP:0005390 9.85 ESR1 KIT MITF MTOR PAX8 PGR
16 mortality/aging MP:0010768 9.83 ACTC1 DES ESR1 KIT MITF MTOR
17 integument MP:0010771 9.36 ESR1 KIT MITF MLANA MME PGR
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Drugs & Therapeutics for Angiomyolipoma

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
4 Anti-Bacterial Agents Phase 4
5 Anti-Infective Agents Phase 4
6 Antifungal Agents Phase 4
7 Antibiotics, Antitubercular Phase 4
8 Liver Extracts Phase 4
9
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
10
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
11
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
12
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
13 Neurotransmitter Agents Phase 2
14 Adrenergic beta-Antagonists Phase 2
15 Adrenergic Antagonists Phase 2
16 Adrenergic Agents Phase 2
17 Anti-Arrhythmia Agents Phase 2
18 Antihypertensive Agents Phase 2
19 Vasodilator Agents Phase 2
20 Angiogenesis Inhibitors Phase 2
21 Immunosuppressive Agents Phase 2
22 Immunologic Factors Phase 2

Interventional clinical trials:

(show all 13)
# 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 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
3 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
4 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
5 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Completed NCT00126672 Phase 2 Rapamycin
6 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
7 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
8 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
9 A Phase II Study of Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus Therapy Terminated NCT02539459 Phase 2 Everolimus
10 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
11 Clinical Profile Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Followed at Hospital Das Clínicas, University of Sao Paulo Medical School Completed NCT02325505
12 EASYX-1 : A Multicenter Study on Safety and Efficacy of Easyx Liquid Embolization Agent Used in Five Separate Indications Completed NCT03477149
13 Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol Active, not recruiting NCT02654340

Search NIH Clinical Center for Angiomyolipoma

Cochrane evidence based reviews: angiomyolipoma

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Genetic Tests for Angiomyolipoma

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Anatomical Context for Angiomyolipoma

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Organs/tissues related to Angiomyolipoma:

MalaCards : Kidney, Liver, Lymph Node, Smooth Muscle, Adrenal Gland, Lung, Uterus
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Publications for Angiomyolipoma

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Articles related to Angiomyolipoma:

(show top 50) (show all 3586)
# Title Authors PMID Year
1
Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressors. 53 62
19602587 2009
2
PEComas: a review with emphasis on cutaneous lesions. 53 62
20043511 2009
3
Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. 53 62
19175396 2009
4
The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells. 53 62
19443708 2009
5
Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. 53 62
19265534 2009
6
The pathogenesis and imaging of the tuberous sclerosis complex. 53 62
18414839 2008
7
Angiomyolipoma of the anterior mediastinum. 53 62
18620999 2008
8
The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. 53 62
18547304 2008
9
[Epithelioid renal angiomyolipoma]. 53 62
18592777 2008
10
Constant allelic alteration on chromosome 16p (TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma. 53 62
18085521 2008
11
Coincidence of hepatocelluar carcinoma and hepatic angiomyolipomas in tuberous sclerosis complex: a case report. 53 62
18205279 2008
12
PEComas: the past, the present and the future. 53 62
18080139 2008
13
Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. 53 62
17932460 2008
14
Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM. 53 62
18958173 2008
15
Activation of the mTOR pathway in sporadic angiomyolipomas and other perivascular epithelioid cell neoplasms. 53 62
17521703 2007
16
Survivin expression in tuberous sclerosis complex cells. 53 62
17592551 2007
17
Sporadic subcutaneous angiomyolipoma with expression of estrogen and progesterone receptors. 53 62
17124601 2007
18
[Epithelioid angiomyolipoma of kidney: clinicopathologic study of two cases and review of literature]. 53 62
17374233 2007
19
Differential expression of melanocytic markers in myoid, lipomatous, and vascular components of renal angiomyolipomas. 53 62
17227112 2007
20
Rapid growth of a kidney angiomyolipoma after initiation of oral contraceptive therapy. 53 62
17018483 2006
21
Comparative genomic hybridization study of perivascular epithelioid cell tumor: molecular genetic evidence of perivascular epithelioid cell tumor as a distinctive neoplasm. 53 62
16647959 2006
22
Emerging clinical picture of lymphangioleiomyomatosis. 53 62
16055626 2005
23
Isolation and growth of smooth muscle-like cells derived from tuberous sclerosis complex-2 human renal angiomyolipoma: epidermal growth factor is the required growth factor. 53 62
16192644 2005
24
KIT expression in normal and neoplastic renal tissues: immunohistochemical and molecular genetic analysis. 53 62
15998375 2005
25
Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. 53 62
15781664 2005
26
C-kit expression in renal oncocytomas and chromophobe renal cell carcinomas. 53 62
15791570 2005
27
An epidemiological study of renal pathology in tuberous sclerosis complex. 53 62
15476522 2004
28
Estrogen receptor is significantly associated with the epithelioid variants of renal angiomyolipoma: a clinicopathological and immunohistochemical study of 67 cases. 53 62
15189505 2004
29
Perivascular epithelioid cell tumor of the uterus: immunohistochemical, ultrastructural and molecular study. 53 62
14629307 2003
30
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. 53 62
12711473 2003
31
Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. 53 62
12411287 2003
32
Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures. 53 62
12547707 2003
33
Functional tyrosine kinase inhibitor profiling: a generally applicable method points to a novel role of platelet-derived growth factor receptor-beta in tuberous sclerosis. 53 62
12213705 2002
34
The TSC-2 product tuberin is expressed in lymphangioleiomyomatosis and angiomyolipoma. 53 62
12010366 2002
35
Expression of KIT (CD117) in angiomyolipoma. 53 62
11914628 2002
36
Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. 53 62
11812941 2002
37
Epithelioid angiomyolipoma of the ovary: a case report and literature review. 53 62
11781527 2002
38
Melanoma markers in angiomyolipoma of the liver and kidney: a comparative study. 53 62
11800647 2002
39
An unusual renal angiomyolipoma with morphological lymphangioleiomyomatosis features and coexpression of oestrogen and progesterone receptors. 53 62
11942568 2002
40
[Concomitant occurrence of angiomyolipoma, focal nodular hyperplasia, bile duct adenoma, and cavernous hemangioma in the liver]. 53 62
11766641 2001
41
Leiomyomatosis-like lymphangioleiomyomatosis of the colon in a female with tuberous sclerosis. 53 62
11706076 2001
42
Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis. 53 62
11704609 2001
43
The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma: use of telomerase to obtain stable populations of cells from benign neoplasms. 53 62
11485907 2001
44
Renal angiomyolipoma: further immunophenotypic characterization of an expanding morphologic spectrum. 53 62
11371226 2001
45
Immunohistochemical study of microphthalmia transcription factor and tyrosinase in angiomyolipoma of the kidney, renal cell carcinoma, and renal and retroperitoneal sarcomas: comparative evaluation with traditional diagnostic markers. 53 62
11145253 2001
46
Pulmonary lymphangioleiomyomatosis in a man. 53 62
10934115 2000
47
[Clinical and molecular epidemiology of lymphangioleiomyomatosis and pulmonary pathology in tuberous sclerosis]. 53 62
10939121 2000
48
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 53 62
10823953 2000
49
Paratesticular liposarcoma with smooth muscle differentiation mimicking angiomyolipoma. 53 62
10692023 2000
50
Trabecular angiomyolipoma mimicking hepatic cell carcinoma. 53 62
11033464 2000
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Variations for Angiomyolipoma

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Expression for Angiomyolipoma

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Search GEO for disease gene expression data for Angiomyolipoma.
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Pathways for Angiomyolipoma

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Pathways related to Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.6 VIM VEGFD TSC2 TSC1 PGR MTOR
2
Signaling by Receptor Tyrosine Kinases 66
12.66 VEGFD PGR MTOR KIT ESR1
3
Breast cancer pathway 74
Show member pathways
 12.32 PGR MTOR KIT ESR1
4
Malignant pleural mesothelioma 74
12.24 VEGFD TSC2 TSC1 MTOR KIT ACTC1
5
T-cell activation SARS-CoV-2 74
Show member pathways
 11.89 TSC2 TSC1 PTPRC MTOR
6
Integrated breast cancer pathway 74
11.85 ESR1 MTOR TSC1 TSC2
7
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.75 PTPRC KIT DES
8
TP53 Regulates Metabolic Genes 66
11.69 TSC2 TSC1 MTOR
9
Clear cell renal cell carcinoma pathways 74
11.67 TSC2 TSC1 MTOR
10
Thyroid hormones production and peripheral downstream signaling effects 74
11.65 TSC2 TSC1 MTOR
11
Dendritic Cells Developmental Lineage Pathway 65
11.57 KIT MME PTPRC
12
Striated muscle contraction pathway 74
Show member pathways
 11.56 ACTC1 DES VIM
13
Head and neck squamous cell carcinoma 74
11.53 TSC2 TSC1 MTOR
14
DYRK1A 74
11.45 TSC2 TSC1 MTOR
15
BDNF-TrkB signaling 74
Show member pathways
 11.41 TSC2 TSC1 MTOR
16
mTOR signaling pathway 61
11.29 TSC2 TSC1 MTOR
17
GPR143 in melanocytes and retinal pigment epithelium cells 74
10.94 TYR MLANA MITF
18
G-protein signaling_Rap2B regulation pathway 22
10.88 VIM VEGFD KIT DES CCL26
19
PI3K/AKT/mTOR - vitamin D3 signaling 74
10.78 TSC2 TSC1 MTOR
20
LKB1 signaling events 61
10.49 TSC2 TSC1 MTOR ESR1
21
Mammary gland development pathway - Puberty (Stage 2 of 4) 74
10.25 VIM PGR ESR1
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GO Terms for Angiomyolipoma

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

# Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.92 TSC2 TSC1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.85 VIM PGR MTOR MITF KIT ACTC1
2 pigmentation GO:0043473 9.35 TYR MITF KIT
3 regulation of osteoclast differentiation GO:0045670 9.1 TFE3 MTOR MITF
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Sources for Angiomyolipoma

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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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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