Kidney Angiomyolipoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: KDN015 MIFTS: 45	Kidney Angiomyolipoma Categories: Cancer diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Kidney Angiomyolipoma

MalaCards integrated aliases for Kidney Angiomyolipoma:

Name: Kidney Angiomyolipoma ¹² ⁵⁴ ¹⁵ ¹⁷

Renal Angiomyolipoma ¹² ³⁶ ⁶

Angiomyolipoma of Kidney ¹² ⁷¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:8411

KEGG ³⁶ H01691

NCIt ⁴⁹ C3888

SNOMED-CT ⁶⁷ 254921004

EFO ¹⁷ EFO_1000312

UMLS ⁷¹ C0241961

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Summaries for Kidney Angiomyolipoma

KEGG : ³⁶ Renal angiomyolipoma (AML) is one of the most common solid benign renal tumours, composed of fat, smooth muscle, and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome. Remaining cases are associated with tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis (LAM). The pathogenesis of TSC is thought to result from mutations in either the TSC1 or TSC2 genes that encode the proteins tuberin and hamartin, respectively. These proteins interact with each other to form heterodimers, whose most important role is inhibition of the mTOR pathway. Loss of inhibition of mTORC1 leads to increased activation of this pathway and the formation of the lesions characteristic of TSC. Sporadic renal AML usually have mutations in TSC2, but not TSC1.

MalaCards based summary : Kidney Angiomyolipoma, also known as renal angiomyolipoma, is related to pneumothorax and angiomyolipoma. An important gene associated with Kidney Angiomyolipoma is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are mTOR signaling pathway and Signaling by GPCR. The drugs Everolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and lymph node, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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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 211)

#	Related Disease	Score	Top Affiliating Genes
1	pneumothorax	30.4	TSC1 FNIP1 FLCN
2	angiomyolipoma	30.3	VEGFD TSC2 TSC1 TFE3 MTOR MLANA
3	perivascular epithelioid cell tumor	30.3	TSC2 TFE3 MLANA
4	congenital heart defects, hamartomas of tongue, and polysyndactyly	30.2	TSC2 TSC1 FLCN
5	angiolipoma	30.1	MLANA FLCN
6	kidney cancer	30.1	VEGFD TSC2 TSC1 MTOR FLCN
7	polycystic kidney disease 1 with or without polycystic liver disease	30.0	TSC2 TSC1 MTOR
8	hepatic angiomyolipoma	30.0	TSC2 TFE3 MTOR MLANA
9	subependymal giant cell astrocytoma	29.9	TSC2 TSC1 RHEB MTOR FKBP1A EIF4EBP1
10	cystic kidney disease	29.9	TSC2 TSC1 MTOR FLCN
11	pneumothorax, primary spontaneous	29.8	FNIP1 FLCN
12	obstructive hydrocephalus	29.8	TSC2 TSC1 RICTOR
13	lymphangioleiomyomatosis	29.7	VEGFD TSC2 TSC1 RPS6KB1 MTOR
14	clear cell renal cell carcinoma	29.7	TFE3 MTOR FNIP1 FLCN
15	alveolar soft part sarcoma	29.5	TFE3 PRCC MTOR
16	chromophobe renal cell carcinoma	29.2	TFE3 PRCC FLCN
17	renal cell carcinoma, nonpapillary	28.7	VEGFD TSC2 TSC1 TFE3 PRCC MTOR
18	birt-hogg-dube syndrome	28.5	TSC2 TFE3 PRCC MTOR FNIP1 FLCN
19	tuberous sclerosis	27.5	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
20	tuberous sclerosis 1	27.4	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
21	tuberous sclerosis 2	27.3	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
22	childhood kidney angiomyolipoma	12.5
23	liposarcoma	10.5
24	ciliary body cancer	10.4	VEGFD MLANA
25	pulmonary embolism	10.4
26	aneurysm	10.4
27	uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis	10.4
28	double uterus-hemivagina-renal agenesis	10.4
29	melanoacanthoma	10.4	MTOR MLANA
30	lissencephaly with cerebellar hypoplasia	10.4	TSC2 TSC1
31	acanthoma	10.4	MTOR MLANA
32	large cell acanthoma	10.3	MTOR MLANA
33	heart cancer	10.3	TSC2 TSC1 MTOR
34	focal cortical dysplasia, type ii	10.3	TSC2 TSC1 MTOR
35	corneal dystrophy, fleck	10.3	TSC2 TSC1 MTOR
36	leiomyoma	10.3
37	astrocytoma	10.3
38	benign ependymoma	10.2	TSC2 TSC1 MTOR
39	connective tissue benign neoplasm	10.2	TSC2 TSC1 MLANA
40	exudative vitreoretinopathy 6	10.2	MTOR FKBP1A
41	scalp-ear-nipple syndrome	10.2	TSC2 TSC1 TBC1D7
42	polycystic liver disease 1 with or without kidney cysts	10.2	TSC2 TSC1 FLCN
43	oncocytoma	10.2
44	wilms tumor 5	10.2
45	acute cystitis	10.2
46	47,xyy	10.2
47	retroperitoneal liposarcoma	10.2
48	familial renal oncocytoma	10.1	FNIP1 FLCN
49	proteus syndrome	10.1	TSC2 TSC1 RHEB MTOR
50	central nervous system benign neoplasm	10.1	TSC2 TSC1 RHEB MTOR

Graphical network of the top 20 diseases related to Kidney Angiomyolipoma:

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Symptoms & Phenotypes for Kidney Angiomyolipoma

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

²⁶ (show all 26)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-11	10.22	MTOR RHEB
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-117	10.22	TSC1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-16	10.22	MTOR RHEB
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-166	10.22	PRCC SLAMF1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-169	10.22	RICTOR PRCC
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-173	10.22	MTOR RHEB
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-183	10.22	SLAMF1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-203	10.22	TSC1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-206	10.22	TSC1
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-209	10.22	SLAMF1
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-211	10.22	PRCC
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	10.22	RHEB
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-26	10.22	SLAMF1
14	Decreased shRNA abundance (Z-score < -2)	GR00366-A-33	10.22	TSC1
15	Decreased shRNA abundance (Z-score < -2)	GR00366-A-40	10.22	FKBP1A
16	Decreased shRNA abundance (Z-score < -2)	GR00366-A-42	10.22	MTOR RHEB RICTOR
17	Decreased shRNA abundance (Z-score < -2)	GR00366-A-43	10.22	FKBP1A
18	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	10.22	MTOR FKBP1A
19	Decreased shRNA abundance (Z-score < -2)	GR00366-A-57	10.22	RHEB
20	Decreased shRNA abundance (Z-score < -2)	GR00366-A-66	10.22	RHEB
21	Decreased shRNA abundance (Z-score < -2)	GR00366-A-73	10.22	MTOR
22	Decreased shRNA abundance (Z-score < -2)	GR00366-A-82	10.22	TSC1
23	Decreased shRNA abundance (Z-score < -2)	GR00366-A-90	10.22	FKBP1A
24	Decreased viability with paclitaxel	GR00179-A-1	9.02	MTOR RPS6KB1
25	Decreased viability with paclitaxel	GR00179-A-2	9.02	MTOR
26	Decreased viability with paclitaxel	GR00179-A-3	9.02	MTOR RPS6KB1

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.23	EIF4EBP1 FKBP1A FLCN FNIP1 MLST8 MTOR
2	growth/size/body region	MP:0005378	10.18	EIF4EBP1 FKBP1A FLCN MLST8 MTOR RHEB
3	cellular	MP:0005384	10.17	EIF4EBP1 FKBP1A FLCN FNIP1 MTOR RHEB
4	embryo	MP:0005380	10.1	FKBP1A FLCN MLST8 MTOR RHEB RICTOR
5	homeostasis/metabolism	MP:0005376	10.1	EIF4EBP1 FKBP1A FLCN FNIP1 MTOR RHEB
6	mortality/aging	MP:0010768	10	EIF4EBP1 FKBP1A FLCN FNIP1 MLST8 MTOR
7	immune system	MP:0005387	9.96	FLCN FNIP1 MTOR RHEB RICTOR RPS6KB1
8	muscle	MP:0005369	9.61	EIF4EBP1 FKBP1A FNIP1 MTOR RHEB RICTOR
9	neoplasm	MP:0002006	9.17	FLCN FNIP1 RICTOR RPS6KB1 TSC1 TSC2

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Drugs & Therapeutics for Kidney Angiomyolipoma

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

(show all 10)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Everolimus

Approved

Phase 4

159351-69-6

70789204 6442177

Synonyms:

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

001, RAD

07741_FLUKA

159351-69-6

40-O-(2-hydroxyethyl)-rapamycin

40-O-(2-Hydroxyethyl)-rapamycin

42-O-(2-Hydroxyethyl)rapamycin

Afinitor

Certican

CERTICAN(R)

CHEMBL1201755

D02714

DB01590

everolimus

Everolimus

évérolimus

Everolimus (JAN/USAN/INN)

Everolimus [USAN]

LS-143292

MolPort-003-847-342

MolPort-003-925-588

NCGC00167512-01

NVP-RAD-001

RAD 001

RAD, SDZ

RAD001

RAD-001

RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus

RAD-001C

S1120_Selleck

SDZ RAD

SDZ-RAD

UNII-9HW64Q8G6G

Zortress

Immunosuppressive Agents

Phase 4

Immunologic Factors

Phase 4

Letrozole

Approved, Investigational

Phase 2

112809-51-5

3902

Synonyms:

1-[bis(4-cyanophenyl)methyl]-1,2,4-triazole

1-[Bis-(4-cyanophenyl)methyl]-1,2,4-triazole

112809-51-5

4,4'-((1h-1,2,4-triazol-1-yl)methylene)dibenzonitrile

4,4'-(1H-1,2,4-triazol-1-ylmethanediyl)dibenzonitrile

4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile

4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)

4,4'-(1H-1,2,4-Triazol-1-yl-methylene)-bis(benzonitrile)

4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile

4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile

4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole

4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile

4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile

AB00514009

AC-1193

AC1L1GYT

AKOS005145822

BIDD:GT0015

BIDD:PXR0130

Bio-0057

BPBio1_001331

BRD-K88789588-001-03-2

BSPBio_001209

C067431

C08163

C17H11N5

CAS-112809-51-5

CCRIS 8822

CGS 20267

CGS 20267, Femara, Piroxicam, Letrozole

CGS-20267

CHEBI:6413

CHEMBL1444

CID3902

CPD000466343

D00964

DB01006

FEM-345

Femara

Fémara

Femara (TN)

Femera

HMS1571M11

HMS2051E08

HMS2089L22

HSDB 7461

I06-0022

Letoval

Letrozol

letrozole

Letrozole

Letrozole (JAN/USP/INN)

Letrozole [USAN:INN]

LS-38788

MLS000759455

MLS001424038

MLS002584991

MolPort-003-848-373

NCGC00016973-01

NCGC00016973-02

Novartis brand OF letrozole

Novartis Brand of Letrozole

NSC719345

Prestwick0_001025

Prestwick1_001025

Prestwick2_001025

Prestwick3_001025

S1235_Selleck

SAM001246649

SMR000466343

SPBio_003070

TL8000371

UNII-7LKK855W8I

ZINC03778874

Hormones

Phase 2

Hormone Antagonists

Phase 2

Estrogen Antagonists

Phase 2

Estrogen Receptor Antagonists

Phase 2

Estrogens

Phase 2

Aromatase Inhibitors

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	Active, not recruiting	NCT03525834	Phase 4	everolimus
2	Phase II Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer (CRAD001CUS242T)	Unknown status	NCT02188550	Phase 2	everolimus and letrozole
3	Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma	Active, not recruiting	NCT02155920	Phase 2	Everolimus
4	Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France	Recruiting	NCT02887781

Search NIH Clinical Center for Kidney Angiomyolipoma

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Genetic Tests for Kidney Angiomyolipoma

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Anatomical Context for Kidney Angiomyolipoma

MalaCards organs/tissues related to Kidney Angiomyolipoma:

⁴⁰

Kidney, Smooth Muscle, Lymph Node, Lung, Liver, Colon, Breast

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Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 1292)

#	Title	Authors	PMID	Year
1	Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. ⁶¹ ⁵⁴	Habib SL	19265534	2009
2	Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. ⁶¹ ⁵⁴	Habib SL...Thameem F	17932460	2008
3	[Tests for loss of heterozygosity in tuberous sclerosis]. ⁶¹ ⁵⁴	Jozwiak S...Grajkowska W	11355103	2001
4	Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis. ⁶¹	Di Marco F...Guedes Baldi B	32469709	2020
5	The efficacy of cannabidiol on renal angiomyolipoma and subependymal giant cell tumor volume in tuberous sclerosis complex. ⁶¹	Barnett JR...Thiele EA	32409220	2020
6	Fat-poor renal angiomyolipoma combined with pseudoaneurysm: a case report. ⁶¹	Chong J...Sun Y	32527122	2020
7	The Clinical Value and Appropriateness Criteria of Upper Abdominal Magnetic Resonance Examinations in Patients Before and After Bariatric Surgery: a Study of 837 Images. ⁶¹	Lv H...Wang Z	32483745	2020
8	A scoring system based on clinical features for the prediction of sporadic renal angiomyolipoma rupture and hemorrhage. ⁶¹	Xu XF...Zhang Y	32443333	2020
9	Spontaneous rupture of large bilateral renal angiomyolipomas in a patient with tuberous sclerosis complex: A case report and literature review. ⁶¹	Ben Mansoura W...Mizouni H	32025496	2020
10	Therapeutic targeting of the secreted lysophospholipase D autotaxin suppresses tuberous sclerosis complex-associated tumorigenesis. ⁶¹	Feng Y...Priolo C	32393662	2020
11	Fate of Pediatric Renal Angiomyolipoma During mTOR Inhibitor Treatment in Tuberous Sclerosis Complex. ⁶¹	Wu CQ...Smith EA	32081671	2020
12	Differential diagnosis of hypervascular ultra-small renal cell carcinoma and renal angiomyolipoma with minimal fat in early stage by using thin-section multidetector computed tomography. ⁶¹	Wang X...Shao G	32415344	2020
13	Simultaneous totally robotic rectal resection and partial nephrectomy: case report and review of literature. ⁶¹	Cochetti G...Mearini E	32366262	2020
14	Renal angiomyolipoma: Clinico-pathologic study of 17 cases with emphasis on the epithelioid histology and p53 gene abnormalities. ⁶¹	Boudaouara O...Sellami Boudawara T	32574890	2020
15	Sporadic giant renal angiomyolipoma: A case report and literature review of clinical presentation, diagnosis, and treatment options. ⁶¹	Alshehri M...Raheem AA	32565656	2020
16	Notch sign in renal angiomyolipoma. ⁶¹	Milosevic S...Djuric-Stefanovic A	31970438	2020
17	Natural growth pattern of sporadic renal angiomyolipoma. ⁶¹	Courtney M...Lee M	32321277	2020
18	A large bi-lobed classic renal angiomyolipoma with vena caval extension. ⁶¹	Abou Heidar NF...Abi Saad G	32055259	2020
19	Surgical management of angiomyolipoma with vena cava thrombus during pregnancy: a case report. ⁶¹	Zhang Z...He Z	32420188	2020
20	The Role of Heat Shock Protein-90 in the Pathogenesis of Birt-Hogg-Dubé and Tuberous Sclerosis Complex Syndromes. ⁶¹	Woodford MR...Mollapour M	32327294	2020
21	How many surgically-treated angiomyolipomas are related to tuberous sclerosis complex? Insights from a retrospective multicenter study. ⁶¹	Champy CM...Roupret M	31619031	2020
22	Renal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH). ⁶¹	Idogawa M...Natori H	31847710	2020
23	Renal angiomyolipoma-patient characteristics and treatment with focus on active surveillance. ⁶¹	Sward J...Lundstam S	31971051	2020
24	[Renal angiomyolipoma with epithelial cysts: a clinicopathological analysis of four cases]. ⁶¹	Zhang X...Zhao M	32187896	2020
25	Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial. ⁶¹	Stelmaszewski EV...Loss KL	31983379	2020
26	Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature. ⁶¹	Balsamo F...Waisberg J	32171268	2020
27	An Incidental Diagnosis of Microscopic Renal Angiomyolipoma Completely Excised on Renal Biopsy: A Case Report. ⁶¹	Hyodo T...Hara S	32172274	2020
28	The independent indicators for differentiating renal cell carcinoma from renal angiomyolipoma by contrast-enhanced ultrasound. ⁶¹	Cao H...Chen Y	32228606	2020
29	Emergency retroperitoneal laparoscopic partial nephrectomy for ruptured renal angiomyolipomas: a retrospective single-center series of 15 cases. ⁶¹	He W...Niu Z	32228561	2020
30	Radiomics of small renal masses on multiphasic CT: accuracy of machine learning-based classification models for the differentiation of renal cell carcinoma and angiomyolipoma without visible fat. ⁶¹	Yang R...Zhen X	31468159	2020
31	A CT-based radiomics nomogram for differentiation of renal angiomyolipoma without visible fat from homogeneous clear cell renal cell carcinoma. ⁶¹	Nie P...Niu H	31506816	2020
32	Favorable survival even with high disease-specific complication rates in lymphangioleiomyomatosis after lung transplantation-long-term follow-up of a Japanese center. ⁶¹	Kurosaki T...Toyooka S	31729820	2020
33	The efficacy and safety of pharmacological treatments for lymphangioleiomyomatosis. ⁶¹	Wang Q...Ji Y	32059669	2020
34	A case of lymphangioleiomyomatosis with diffuse large B-cell lymphoma: Usefulness of FDG-PET. ⁶¹	Orimo M...Tagaya E	32257785	2020
35	Huge renal epithelioid angiomyolipoma - A case report of a giant, benign renal mass. ⁶¹	Ghaed MA...Sohi HJ	31945544	2020
36	Selective Arterial Embolization for Large or Symptomatic Renal Angiomyolipoma: 10 Years of Follow-up. ⁶¹	Anis O...Dotan ZA	31618658	2020
37	Fat-Containing Renal Cell Carcinoma Mimicking Angiomyolipoma: A Radiological and Histopathological Diagnostic Challenge. ⁶¹	Yousaf A...Gashir MB	32133249	2020
38	Bleeding angiomyolipoma mimiking a ruptured adrenal tumour. ⁶¹	Nerli RB...Hiremath MB	31641611	2020
39	Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach. ⁶¹	Onay OS...Tekin AN	32419429	2020
40	Renal angiomyolipoma with tuberous sclerosis complex: How it differs from sporadic angiomyolipoma in both management and care. ⁶¹	Hatano T...Egawa S	31959574	2020
41	Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus. ⁶¹	Wang T...Xing J	31597506	2020
42	Renal angiomyolipoma with IVC thrombus: A case report. ⁶¹	Kheir P...El Khoury R	32416484	2020
43	Transcatheter arterial embolization for unruptured renal angiomyolipoma using a 1.8-Fr tip microballoon catheter with a mixture of ethanol and Lipiodol. ⁶¹	Tomita K...Hasebe T	32027014	2020
44	PNL2: A Useful Adjunct Biomarker to HMB45 in the Diagnosis of Uterine Perivascular Epithelioid Cell Tumor (PEComa). ⁶¹	Valencia-Guerrero A...Hirsch MS	31851063	2019
45	Application of Everolimus in Preoperative Neoadjuvant Therapy of Tuberous Sclerosis Complex Associated With Renal Angiomyolipoma: A Single-Center Report of 5 Cases. ⁶¹	Guo G...Zhang X	31601513	2019
46	A new management strategy for renal angiomyolipomas: superselective arterial embolization in combination with radiofrequency ablation. ⁶¹	Liu F...Ji K	32042782	2019
47	[A Case of Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus Associated with Tuberous Sclerosis Complex Diagnosed by Intra-Abdominal Bleeding from the Uterus]. ⁶¹	Taniguchi A...Ueda Y	31902183	2019
48	[Rapamycin in the treatment of renal diseases associated with tuberous sclerosis complex]. ⁶¹	Dun S...Wang B	31665839	2019
49	Differentiation of renal angiomyolipoma without visible fat from renal cell carcinoma by machine learning based on whole-tumor computed tomography texture features. ⁶¹	Cui EM...Long WS	30799634	2019
50	Cytological features of a renal angiomyolipoma in a child-A case report. ⁶¹	Jain K...Datta C	31293099	2019

Sources

Genes for Kidney Angiomyolipoma

Genes related to Kidney Angiomyolipoma (0 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TSC1	TSC Complex Subunit 1	Protein Coding	19.15	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	17932460 11355103 19265534
2	TSC2	TSC Complex Subunit 2	Protein Coding	19.03	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	12192641 11355103 19005330 (more) 19265534
3	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	13.26	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	7.98	DISEASES inferred ¹⁵
5	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	7.44	DISEASES inferred ¹⁵
6	MLANA	Melan-A	Protein Coding	6.94	DISEASES inferred ¹⁵
7	TBC1D7	TBC1 Domain Family Member 7	Protein Coding	6.53	DISEASES inferred ¹⁵
8	FLCN	Folliculin	Protein Coding	6.51	DISEASES inferred ¹⁵
9	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	6.5	DISEASES inferred ¹⁵
10	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	6.24	DISEASES inferred ¹⁵
11	FKBP1A	FKBP Prolyl Isomerase 1A	Protein Coding	6.14	DISEASES inferred ¹⁵
12	SLAMF1	Signaling Lymphocytic Activation Molecule Family Member 1	Protein Coding	6.11	DISEASES inferred ¹⁵
13	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	5.98	DISEASES inferred ¹⁵
14	PRCC	Proline Rich Mitotic Checkpoint Control Factor	Protein Coding	5.91	DISEASES inferred ¹⁵
15	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	5.88	DISEASES inferred ¹⁵
16	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	5.82	DISEASES inferred ¹⁵
17	MLST8	MTOR Associated Protein, LST8 Homolog	Protein Coding	5.81	DISEASES inferred ¹⁵
18	FNIP1	Folliculin Interacting Protein 1	Protein Coding	5.72	DISEASES inferred ¹⁵

Sources

Variations for Kidney Angiomyolipoma

ClinVar genetic disease variations for Kidney Angiomyolipoma:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TSC1	NM_000368.4(TSC1):c.359T>C (p.Leu120Pro)	SNV	Uncertain significance	523362	rs1554820262	9:135800978-135800978	9:132925591-132925591

Sources

Expression for Kidney Angiomyolipoma

Search GEO for disease gene expression data for Kidney Angiomyolipoma.

Sources

Pathways for Kidney Angiomyolipoma

Pathways related to Kidney Angiomyolipoma according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	mTOR signaling pathway	hsa04150

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

(show top 50) (show all 54)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	14.15	VEGFD TSC2 TSC1 RPTOR RPS6KB1 RICTOR
2	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.78	TSC2 TSC1 RPTOR RICTOR RHEB PRCC
3	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease (NAFLD) ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	13.28	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
4	Cellular Senescence (REACTOME) ⁶⁵ Show member pathways Cellular Senescence ⁶⁵ Oxidative Stress Induced Senescence ⁶⁵ Senescence-Associated Secretory Phenotype (SASP) ⁶⁵	13.12	TSC2 TSC1 RPTOR RHEB MTOR MLST8
5	p70S6K Signaling ⁶³ Show member pathways mTOR Pathway ⁶³ Renin-Angiotensin Pathway ⁶³	13.08	VEGFD TSC2 TSC1 RPTOR RPS6KB1 RICTOR
6	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	13.06	VEGFD TSC2 TSC1 RPTOR RPS6KB1 RHEB
7	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	13	TSC2 TSC1 RPTOR RICTOR RHEB MTOR
8	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.94	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
9	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁶ IRS activation ⁶⁵ Signal attenuation ⁶⁵ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.94	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
10	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.84	TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
11	Herpes simplex virus 1 infection ³⁶	12.78	TSC2 TSC1 RHEB MTOR EIF4EBP1
12	ErbB signaling pathway ³⁶ ¹ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.66	TFE3 RPS6KB1 PRCC MTOR FLCN EIF4EBP1
13	Development Endothelin-1/EDNRA signaling ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA transactivation of EGFR ²² GnRH signaling pathway ³⁶ Inflammatory mediator regulation of TRP channels ³⁶	12.6	TSC2 RPS6KB1 RHEB MTOR
14	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁶ AMPK Signaling Pathway ⁶⁶	12.59	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
15	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	12.54	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
16	Phospholipase D signaling pathway ³⁶ Show member pathways Choline metabolism in cancer ³⁶	12.47	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
17	Development IGF-1 receptor signaling ²² Show member pathways IL-4 Signaling Pathway ¹ Immune response IL-4 signaling pathway ²² Signal transduction AKT signaling ²²	12.46	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
18	Translation Non-genomic (rapid) action of Androgen Receptor ²² Show member pathways Basal cell carcinoma ³⁶ Transcription Androgen Receptor nuclear signaling ²²	12.31	TSC2 RPS6KB1 MTOR EIF4EBP1
19	AMPK Enzyme Complex Pathway ⁶³ Show member pathways Chromatin Remodeling ⁶³ mitochondrial L-carnitine shuttle ¹	12.3	TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
20	MAPK Signaling: Mitogens ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	12.27	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
21	mTOR signalling ⁶⁵ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁵ Inhibition of TSC complex formation by PKB ⁶⁵ mTORC1-mediated signalling ⁶⁵ PDE3B signalling ⁶⁵ PI3K Cascade ⁶⁵ PKB-mediated events ⁶⁵ Target Of Rapamycin (TOR) Signaling ¹	12.25	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
22	Longevity regulating pathway ³⁶ Show member pathways Longevity regulating pathway - multiple species ³⁶	12.23	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
23	Cellular senescence (KEGG) ³⁶	12.21	TSC2 TSC1 RHEB MTOR EIF4EBP1
24	EGF/EGFR Signaling Pathway ¹	12.19	RPS6KB1 RICTOR MTOR EIF4EBP1
25	Translational Control ⁴	12.19	TSC2 TSC1 RPTOR RPS6KB1 RICTOR MTOR
26	Autophagy - animal ³⁶	12.18	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
27	Integrated Breast Cancer Pathway ¹	12.16	TSC2 TSC1 RHEB MTOR
28	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	12.12	TSC2 RPS6KB1 MTOR EIF4EBP1
29	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	12.09	TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
30	Macroautophagy ⁶⁵ Show member pathways Autophagy - other ³⁶	12.02	TSC2 TSC1 RPTOR RHEB MTOR MLST8
31	Glioblastoma Multiforme ⁶³	12	TSC2 TSC1 RPS6KB1 MTOR
32	Thyroid hormone signaling pathway ³⁶	11.97	TSC2 RHEB MTOR
33	TP53 Regulates Metabolic Genes ⁶⁵	11.94	TSC2 TSC1 RPTOR RHEB MTOR MLST8
34	HIF-1 signaling pathway ³⁶	11.92	RPS6KB1 MTOR EIF4EBP1
35	PI3K / Akt Signaling ⁴	11.91	TSC2 TSC1 TBC1D7 RHEB
36	ErbB1 downstream signaling ¹	11.89	RICTOR MTOR MLST8
37	Constitutive Signaling by AKT1 E17K in Cancer ⁶⁵ Show member pathways AKT phosphorylates targets in the cytosol ⁶⁵ AKT phosphorylates targets in the nucleus ⁶⁵ AKT-mediated inactivation of FOXO1A ⁶⁵ Class I PI3K signaling events mediated by Akt ¹	11.87	TSC2 RICTOR MTOR MLST8
38	mTOR signaling pathway (KEGG) ³⁶ Show member pathways mTOR Signaling ⁶⁴	11.87	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
39	Interferon Pathway ⁶³	11.84	RPS6KB1 MTOR EIF4EBP1
40	CXCR4-mediated signaling events ¹	11.75	RICTOR MTOR MLST8
41	Regulation of TP53 Expression and Degradation ⁶⁵ Show member pathways Regulation of TP53 Degradation ⁶⁵ Regulation of TP53 Expression ⁶⁵	11.73	RICTOR MTOR MLST8
42	Interferon type I signaling pathways ¹	11.71	RPTOR RPS6KB1 MTOR MLST8 EIF4EBP1
43	Wnt Signaling Pathway Netpath ¹	11.58	TSC2 TSC1 MTOR
44	LKB1 signaling events ¹	11.58	TSC2 TSC1 RPTOR MTOR MLST8
45	TBC/RABGAPs ⁶⁵	11.52	TSC2 TSC1 TBC1D7
46	HSF1-dependent transactivation ⁶⁵ Show member pathways Attenuation phase ⁶⁵ Viral RNP Complexes in the Host Cell Nucleus ⁶⁵	11.43	RPTOR MTOR MLST8
47	mTOR signaling pathway (Pathway Interaction Database) ¹	11.39	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
48	CXCR3-mediated signaling events ¹	11.36	RICTOR MTOR MLST8
49	BDNF-TrkB Signaling ¹	11.36	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
50	Follicle Stimulating Hormone (FSH) signaling pathway ¹	11.35	TSC2 RPS6KB1 RHEB MTOR EIF4EBP1

Sources

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	TSC2 TSC1 TFE3 TBC1D7 RPTOR RPS6KB1
2	lysosomal membrane	GO:0005765	9.72	RPTOR RHEB MTOR FNIP1 FLCN
3	postsynaptic cytosol	GO:0099524	9.37	MTOR EIF4EBP1
4	TSC1-TSC2 complex	GO:0033596	9.26	TSC2 TSC1
5	TORC2 complex	GO:0031932	9.13	RICTOR MTOR MLST8
6	TORC1 complex	GO:0031931	8.8	RPTOR MTOR MLST8

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

(show all 30)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of protein phosphorylation	GO:0001934	9.85	VEGFD MTOR FNIP1 FLCN
2	cell cycle arrest	GO:0007050	9.8	RPTOR RHEB MTOR MLST8
3	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	9.79	RICTOR MTOR MLST8
4	regulation of GTPase activity	GO:0043087	9.79	RICTOR MTOR MLST8
5	regulation of actin cytoskeleton organization	GO:0032956	9.77	RICTOR MTOR MLST8
6	regulation of cellular response to heat	GO:1900034	9.74	RPTOR MTOR MLST8
7	cellular response to starvation	GO:0009267	9.73	RPTOR MTOR FNIP1 FLCN
8	positive regulation of actin filament polymerization	GO:0030838	9.71	RICTOR MTOR MLST8
9	positive regulation of endothelial cell proliferation	GO:0001938	9.71	VEGFD RPTOR RICTOR MTOR
10	negative regulation of cold-induced thermogenesis	GO:0120163	9.7	TFE3 RHEB FLCN
11	regulation of macroautophagy	GO:0016241	9.67	RPTOR RHEB MTOR MLST8
12	regulation of TOR signaling	GO:0032006	9.65	RHEB FLCN
13	negative regulation of insulin receptor signaling pathway	GO:0046627	9.65	TSC2 TSC1 RPS6KB1
14	regulation of protein kinase B signaling	GO:0051896	9.64	RICTOR MTOR
15	regulation of phosphorylation	GO:0042325	9.64	RPTOR RICTOR
16	regulation of osteoclast differentiation	GO:0045670	9.63	TFE3 MTOR
17	negative regulation of macroautophagy	GO:0016242	9.63	TSC1 MTOR
18	activation of protein kinase B activity	GO:0032148	9.63	RICTOR MTOR MLST8
19	cellular response to nutrient levels	GO:0031669	9.62	RPTOR MTOR
20	regulation of protein phosphorylation	GO:0001932	9.62	RICTOR MTOR FNIP1 FLCN
21	anoikis	GO:0043276	9.61	TSC2 MTOR
22	cellular response to leucine	GO:0071233	9.59	RPTOR MTOR
23	positive regulation of transcription by RNA polymerase III	GO:0045945	9.58	RPTOR MTOR
24	negative regulation of cell size	GO:0045792	9.58	TSC1 MTOR
25	negative regulation of mitochondrion organization	GO:0010823	9.56	FNIP1 FLCN
26	negative regulation of TOR signaling	GO:0032007	9.55	TSC2 TSC1 TBC1D7 FNIP1 FLCN
27	regulation of pro-B cell differentiation	GO:2000973	9.51	FNIP1 FLCN
28	TORC1 signaling	GO:0038202	9.43	RPTOR MTOR MLST8
29	positive regulation of TOR signaling	GO:0032008	9.43	RPTOR RICTOR RHEB MLST8 FNIP1 FLCN
30	TOR signaling	GO:0031929	9.23	RPTOR RPS6KB1 RICTOR MTOR MLST8 FNIP1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.58	VEGFD TSC2 TSC1 TFE3 TBC1D7 SLAMF1
2	RNA polymerase III type 3 promoter sequence-specific DNA binding	GO:0001006	9.46	RPTOR MTOR
3	ATPase inhibitor activity	GO:0042030	9.43	TSC1 FNIP1
4	RNA polymerase III type 3 promoter DNA binding	GO:0001032	9.4	RPTOR MTOR
5	RNA polymerase III type 2 promoter sequence-specific DNA binding	GO:0001003	9.37	RPTOR MTOR
6	RNA polymerase III type 1 promoter sequence-specific DNA binding	GO:0001002	9.32	RPTOR MTOR
7	TFIIIC-class transcription factor complex binding	GO:0001156	9.26	RPTOR MTOR
8	RNA polymerase III type 2 promoter DNA binding	GO:0001031	9.16	RPTOR MTOR
9	RNA polymerase III type 1 promoter DNA binding	GO:0001030	8.96	RPTOR MTOR

Sources

Sources for Kidney Angiomyolipoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia