MCID: HMN009
MIFTS: 43

Hemangioblastoma malady

Categories: Rare diseases, Neuronal diseases, Cancer diseases, Cardiovascular diseases

Aliases & Classifications for Hemangioblastoma

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hemangioblastoma:

Name: Hemangioblastoma 10 45 47 12 51 36 65
 
Capillary Hemangioblastoma 10 45

Characteristics:

Orphanet epidemiological data:

51
hemangioblastoma:
Age of onset: Adult

Classifications:



External Ids:

Disease Ontology10 DOID:5241
MeSH36 D018325
NCIt42 C3801
SNOMED-CT59 81201000
Orphanet51 252054
UMLS via Orphanet66 C0206734
UMLS65 C0206734

Summaries for Hemangioblastoma

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NIH Rare Diseases:45 A hemangioblastoma is a benign, highly vascular tumor that can occur in the brain, spinal cord, and retina (the light-sensitive tissue that lines the back of the eye). this tumor accounts for about 2% of brain tumors. as it enlarges, it presses on the brain and can cause neurological symptoms, such as headaches, weakness, sensory loss, balance and coordination problems, and/or hydrocephalus (a buildup of spinal fluid in the brain). most hemangioblastomas occur sporadically. however, some people develop hemangioblastomas as part of a genetic syndrome called von hippel-lindau syndrome. these people usually develop multiple tumors within the brain and spinal cord over their lifetime. last updated: 7/5/2011

MalaCards based summary: Hemangioblastoma, also known as capillary hemangioblastoma, is related to von hippel-lindau syndrome and microscopic colitis. An important gene associated with Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways are Hypoxic and oxygen homeostasis regulation of HIF-1-alpha and Angiogenesis. Affiliated tissues include brain, spinal cord and retina, and related mouse phenotypes are digestive/alimentary and tumorigenesis.

Wikipedia:68 Hemangioblastomas (capilliary hemangioblastomas) are tumors of the central nervous system that originate... more...

Related Diseases for Hemangioblastoma

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

(show top 50)    (show all 428)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau syndrome30.6HIF1A, INHA, VEGFA, VHL
2microscopic colitis29.5HIF1A, VEGFA
3renal cell carcinoma28.1HIF1A, MME, PAX2, PAX8, SLC2A1, VEGFA
4retinal hemangioblastoma12.4
5cerebellar angioblastoma11.5
6brain stem angioblastoma11.5
7spermatocytoma10.5INHA, MME
8breast mucinous carcinoma10.5MME, PAX2
9ossifying fibromyxoid tumor10.4INHA, MME
10methotrexate-associated lymphoproliferation10.4MME, PAX2
11endometrial mucinous adenocarcinoma10.4INHA, MME
12female reproductive organ cancer10.4MME, PAX2
13central nervous system endodermal sinus tumor10.4PAX2, PAX8
14epithelioid sarcoma10.4EZR, GFAP
15head and neck carcinoma10.4GFAP, MME
16complement component 3 deficiency10.4GFAP, PAX8
17peptic ulcer perforation10.3MME, PAX8
18angiomatosis10.3
19spastic ataxia 210.3PAX2, PAX8
20small intestine leiomyosarcoma10.3GFAP, MME
21small intestine cancer10.3GFAP, MME
22breast cancer10.3
23ovarian brenner tumor10.3INHA, MME, VHL
24gastroesophageal junction adenocarcinoma10.3PAX2, PAX8
25posteroinferior myocardial infarction10.3GFAP, SLC2A1
26mesenteric lymphadenitis10.3EPOR, VHL
27leukemia10.3
28lymphoma10.3
29breast pericanalicular fibroadenoma10.3PAX2, PAX8
30hepatitis10.3
31dermis tumor10.3HBA1, SLC2A1
32pancreatic cystadenoma10.2VEGFA, VHL
33salivary gland adenoid cystic carcinoma10.2GFAP, PROM1
34pediatric ovarian dysgerminoma10.2MME, PAX2, PAX8
35gastrointestinal system cancer10.2MME, PAX2, PAX8
36liver sarcoma10.2MME, PAX2, PAX8
37bladder urachal squamous cell carcinoma10.2SLC2A1, VEGFA
38spindle cell hemangioma10.2GFAP, HBA1
39common bile duct neoplasm10.2GFAP, VEGFA
40myocardial infarction10.2
41lung cancer10.2
42thyroiditis10.2
43hyperbiliverdinemia10.2MME, PAX2, PAX8
44substance abuse10.2GFAP, HBA1, MME
45aorta angiosarcoma10.1HBA1, VEGFA
46adenocarcinoma10.1
47pancreatitis10.1
48autoimmune lymphoproliferative syndrome10.1EZR, GFAP, SLC2A1
49g6pc3 deficiency10.1HIF1A, VHL
50integumentary system cancer10.1GFAP, HBA1, SLC2A1

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to hemangioblastoma

Symptoms for Hemangioblastoma

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Drugs & Therapeutics for Hemangioblastoma

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sunitinibapproved, investigationalPhase 2486341031-54-7, 557795-19-45329102
Synonyms:
(2S)-2-hydroxybutanedioic acid
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
326914-13-0
341031-54-7
5-(5-FLUORO-2-OXO-1,2-DIHYDRO-INDOL-3-YLIDENEMETHYL)-2,4-DIMETHYL-1H-PYRROLE-3-CARBOXYLIC ACID (2-DIETHYLAMINO-ETHYL)-AMIDE
557795-19-4
AC1NS62J
AC1O5CMQ
AKOS005145765
Butanedioic acid, hydroxy-, (2S)-, compd. with N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (1:1)
CHEBI:38940
CHEBI:550864
CHEMBL1567
CHEMBL535
CID5329102
CID6456015
D06402
D08552
DB01268
DB07417
EN002687
FT-0083555
FT-0083556
I01-1229
K00588a
KS-5022
LS-186078
LS-187023
LS-187648
MolPort-003-986-763
N-(2-(Diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (2S)-hydroxybutanedioate
N-(2-diethylaminoethyl)-5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
NCGC00164631-01
 
NSC736511
NSC750690
PDGF TK antagonist
PHA-290940AD
PNU-290940AD
S1042_Selleck
ST51053712
SU 011248
SU 11248
SU-010398
SU-011248 L-malate salt
SU-11248
SU-11248 L-malate salt
SU-11248J
SU-12662
SU010398
SU011248
SU011248 L-malate salt
SU11248
Su-011248
Sunitanib
Sunitinib
Sunitinib (INN)
Sunitinib (free base)
Sunitinib Malate
Sunitinib malate
Sunitinib malate (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
2
PancrelipaseapprovedPhase 288053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
3
VatalanibinvestigationalPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
4Protein Kinase InhibitorsPhase 23162
5Angiogenesis InhibitorsPhase 2, Phase 03688
6Angiogenesis Modulating AgentsPhase 2, Phase 03611
7pancreatinPhase 2880
8
Vorinostatapproved, investigationalPhase 1238149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
9Histone Deacetylase InhibitorsPhase 1532
10
Bevacizumabapproved, investigationalPhase 01875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
11Mitogens1386
12Endothelial Growth Factors328

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584CompletedNCT00052013Phase 2
2Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable MeningiomaCompletedNCT00589784Phase 2
3Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
4TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
5Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
6Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
7Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac TumorsCompletedNCT00001668
8Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl SystemActive, not recruitingNCT02120040
9Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau DiseaseActive, not recruitingNCT00005902
10Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?Enrolling by invitationNCT02207686
11Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau DiseaseTerminatedNCT01015300Phase 0

Search NIH Clinical Center for Hemangioblastoma


Cochrane evidence based reviews: hemangioblastoma

Genetic Tests for Hemangioblastoma

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Anatomical Context for Hemangioblastoma

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MalaCards organs/tissues related to Hemangioblastoma:

33
Brain, Spinal cord, Retina, Eye, Cerebellum, Endothelial, Prostate

Animal Models for Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Hemangioblastoma:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6EZR, GFAP, HIF1A, INHA, VEGFA, VHL
2MP:00020068.6HIF1A, INHA, PROM1, VEGFA, VHL
3MP:00053708.4EPOR, HIF1A, INHA, MME, VEGFA, VHL
4MP:00053918.1GFAP, HIF1A, PAX2, PROM1, VEGFA, VHL
5MP:00053807.8EPOR, EZR, HIF1A, PAX2, PAX8, SLC2A1
6MP:00028737.7EPOR, GFAP, HIF1A, INHA, PROM1, VEGFA
7MP:00053877.4EPOR, EZR, GFAP, HIF1A, INHA, MME
8MP:00036317.0EPOR, GFAP, HIF1A, PAX2, PAX8, PROM1
9MP:00053846.8EPOR, GFAP, HIF1A, PAX2, PAX8, PROM1
10MP:00053766.8EPOR, EZR, GFAP, HIF1A, INHA, MME
11MP:00053856.3EPOR, GFAP, HIF1A, INHA, PAX2, PAX8
12MP:00053786.2EPOR, EZR, GFAP, HIF1A, INHA, PAX8
13MP:00107686.0EPOR, EZR, GFAP, HIF1A, INHA, PAX2

Publications for Hemangioblastoma

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Articles related to Hemangioblastoma:

(show top 50)    (show all 585)
idTitleAuthorsYear
1
E2F1 Transcription Factor Regulates O-linked N-acetylglucosamine (O-GlcNAc) Transferase and O-GlcNAcase Expression. (26527687)
2015
2
Kinetic characterization of the human O-phosphoethanolamine phospho-lyase reveals unconventional features of this specialized pyridoxal phosphate-dependent lyase. (25327712)
2015
3
Emotional reasoning and anxiety sensitivity: associations with social anxiety disorder in childhood. (24120086)
2014
4
Treatment outcome of osteosarcoma after bilateral retinoblastoma: a retrospective study of eight cases. (24795337)
2014
5
Cardiovascular disease contributes to Alzheimer's disease: evidence from large-scale genome-wide association studies. (24231519)
2014
6
Reconstructive surgery of the sulcus of glans penis for balanopreputial adhesion due to lichen sclerosus. Our experience and medicolegal implications. (24901311)
2014
7
Nodular lymphocyte predominant hodgkin lymphoma: biology, diagnosis and treatment. (24650975)
2014
8
A new era of vitiligo research and treatment. (24023425)
2013
9
Polymorphisms in GABRB3 and oral clefting in the Brazilian population. (23438326)
2013
10
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. (23941260)
2013
11
The postoperative C-reactive protein level can be a useful prognostic factor for poor outcome and symptomatic vasospasm in patients with aneurysmal subarachnoid hemorrhage. (22732721)
2012
12
Polymorphic mutations associated with the emergence of the multinucleoside/tide resistance mutations 69 insertion and Q151M. (22027876)
2012
13
Identification of FOXO3 and PRDM1 as tumor-suppressor gene candidates in NK-cell neoplasms by genomic and functional analyses. (21690554)
2011
14
Bullous pemphigoid associated with chronic renal allograft rejection: resolution after transplantectomy. (21839308)
2011
15
Temporal expression of mutant LRRK2 in adult rats impairs dopamine reuptake. (21698001)
2011
16
Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutation. (19958951)
2009
17
The domain responsible for sphingomyelin synthase (SMS) activity. (18694848)
2008
18
Low-grade gastric adenomas/dysplasias: phenotypic expression, DNA ploidy pattern, and LOH at microsatellites linked to the APC gene. (17964080)
2008
19
Physiological, pharmacological, and nutritional regulation of circulating adiponectin concentrations in humans. (18510434)
2008
20
Obese humans as economically designed feed converters: symmorphosis and low oxidative capacity skeletal muscle. (17664046)
2008
21
Terminal deoxynucleotidyl transferase negative T-cell lymphoblastic lymphoma in aleukemic patient. (18512118)
2008
22
Functional characterization of both MAP kinases of the human malaria parasite Plasmodium falciparum by reverse genetics. (17651389)
2007
23
Extensive central ossifying fibroma of the maxilla: a case report with description of an alternative surgical technique. (17268394)
2006
24
Targeting NAD(P)H:quinone oxidoreductase (NQO1) in pancreatic cancer. (16003741)
2005
25
Phosphorylation of ephrin-B1 via the interaction with claudin following cell-cell contact formation. (16211011)
2005
26
The results of CO2 laser surgery in patients with oral leukoplakia: a 25 year follow up. (15598583)
2005
27
Macrophage-derived soluble factor enhances melanoma inhibitory activity expression by uveal melanoma cells in vitro. (15057037)
2004
28
The utility of p16INK4a and Ki-67 staining on cell blocks prepared from residual thin-layer cervicovaginal material. (15211472)
2004
29
Down-regulation of WW domain-containing oxidoreductase induces Tau phosphorylation in vitro. A potential role in Alzheimer's disease. (15126504)
2004
30
The donor splice site mutation in NFkappaB-inducing kinase of alymphoplasia (aly/aly) mice. (12557055)
2003
31
G protein-coupled receptor 30 is critical for a progestin-induced growth inhibition in MCF-7 breast cancer cells. (12193550)
2002
32
Hydrogen peroxide is a novel inducer of connective tissue growth factor. (11409888)
2001
33
Granuloma annulare. (10951648)
2000
34
Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy. (10451074)
1999
35
Atrophic gastritis during long-term omeprazole therapy affects serum vitamin B12 levels. (10540050)
1999
36
Troglitazone increases system A amino acid transport in 3T3-L1 cells. (9492010)
1998
37
Protection from apoptotic cell death by interleukin-4 is increased in previously treated chronic lymphocytic leukemia patients. (9029180)
1997
38
Protein-losing enteropathy from cap polyposis. (7491082)
1995
39
Lymphoblastic lymphoma. (8102865)
1993
40
Differential expression of the mitochondrial gene cytochrome oxidase II in benign and malignant breast tissue. (1334139)
1992
41
In vitro potency and selectivity of the non-steroidal androgen aromatase inhibitor CGS 16949A compared to steroidal inhibitors in the brain. (1390279)
1992
42
Anticardiolipin antibodies and thrombosis. (1452512)
1992
43
Interferon-beta. A potential autocrine regulator of human vascular smooth muscle cell growth. (1602741)
1992
44
Cloning, expression and chromosomal localization of a new putative receptor-like protein tyrosine phosphatase. (1655529)
1991
45
Pseudoxanthoma elasticum and angioid streaks of the retina in a patient with "slow channel syndrome". (1944405)
1991
46
Purification of a RNA debranching activity from HeLa cells. (2435736)
1987
47
Electron microscope studies of Schwann cells during the Wallerian degeneration with special reference to the cytoplasmic filaments. (5966679)
1966
48
A survey of dermatophytosis and pityriasis simplex faciei in Taipei City. (5213195)
1965
49
Thelaziasis in cats and dogs-a case report. (13757057)
1961
50

Variations for Hemangioblastoma

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Expression for genes affiliated with Hemangioblastoma

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Search GEO for disease gene expression data for Hemangioblastoma.

Pathways for genes affiliated with Hemangioblastoma

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GO Terms for genes affiliated with Hemangioblastoma

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.7EPOR, EZR, GFAP, HBA1, HIF1A, SLC2A1

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein localization to early endosomeGO:190296610.4EZR, VEGFA
2positive regulation of metanephric DCT cell differentiationGO:200059410.3PAX2, PAX8
3negative regulation of apoptotic process involved in metanephric collecting duct developmentGO:190021510.3PAX2, PAX8
4pronephric field specificationGO:003900310.3PAX2, PAX8
5positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:007210810.3PAX2, PAX8
6metanephric distal convoluted tubule developmentGO:007222110.3PAX2, PAX8
7negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisGO:007230510.3PAX2, PAX8
8mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.2PAX2, PAX8
9hemoglobin biosynthetic processGO:004254110.2HIF1A, INHA
10urogenital system developmentGO:000165510.1PAX2, PAX8
11metanephric epithelium developmentGO:007220710.1PAX2, PAX8
12positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.0HIF1A, VEGFA
13positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.9PAX2, PAX8, VEGFA
14dopaminergic neuron differentiationGO:00715429.9HIF1A, VEGFA
15negative regulation of reactive oxygen species metabolic processGO:20003789.9HIF1A, PAX2
16inner ear morphogenesisGO:00424729.9PAX2, PAX8
17outflow tract morphogenesisGO:00031519.9HIF1A, VEGFA
18regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.9HIF1A, VEGFA
19cellular response to hypoxiaGO:00714569.3HIF1A, VEGFA, VHL
20positive regulation of neuroblast proliferationGO:00020529.2HIF1A, VEGFA
21negative regulation of apoptotic processGO:00430668.8HIF1A, PAX2, VEGFA, VHL

Sources for Hemangioblastoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet