MCID: HMN009
MIFTS: 45

Hemangioblastoma malady

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

Aliases & Classifications for Hemangioblastoma

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Sources:
11Disease Ontology, 13DISEASES, 31ICD10 via Orphanet, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hemangioblastoma:

Name: Hemangioblastoma 11 48 54 50 39 13 68
 
Capillary Hemangioblastoma 11 48

Characteristics:

Orphanet epidemiological data:

54
hemangioblastoma:
Age of onset: Adult

Classifications:



External Ids:

Disease Ontology11 DOID:5241
MeSH39 D018325
NCIt45 C3801
SNOMED-CT62 81201000
Orphanet54 ORPHA252054
ICD10 via Orphanet31 D33.4, D33.7
UMLS via Orphanet69 C0206734

Summaries for Hemangioblastoma

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NIH Rare Diseases:48 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 clear cell ependymoma. An important gene associated with Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways are Hematopoietic cell lineage and HIF-1-alpha transcription factor network. Affiliated tissues include spinal cord, brain and cerebellum, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Wikipedia:71 Hemangioblastomas (or haemangioblastomas, see spelling differences) (capilliary hemangioblastomas) are... 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 226)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau syndrome32.8INHA, VEGFA, VHL
2clear cell ependymoma30.2GFAP, SYP
3syringomyelia30.0MUC1, SYP
4renal cell carcinoma27.6KRT8, MME, MUC1, PAX2, SLC2A1, VEGFA
5retinal hemangioblastoma12.0
6angiomatosis11.1
7cerebellar angioblastoma11.0
8brain stem angioblastoma10.8
9grubben de cock borghgraef syndrome10.7GFAP, SYP
10papillary glioneuronal tumor10.7GFAP, SYP
11lice infestation10.7GFAP, SYP
12chiari malformation type 410.7GFAP, SYP
13cauda equina neoplasm10.7GFAP, SYP
14glomus tumor10.7GFAP, SYP
15brain glioma10.6GFAP, SYP
16vulvar benign neoplasm10.6GFAP, SYP
17hypersensitivity reaction type ii disease10.6GFAP, SYP
18brainstem intraparenchymal clear cell meningioma10.6GFAP, SYP
19jewett-marshall bladder cancer10.6GFAP, SYP
20conjunctivitis10.6EZR, GFAP
21yolk sac tumor of central nervous system10.6GFAP, SYP
22atypical choroid plexus papilloma10.6GFAP, SYP
23pilomyxoid astrocytoma10.6GFAP, SYP
24cauda equina intradural extramedullary astrocytoma10.6GFAP, SYP
25choroid disease10.6GFAP, SYP
26subpulmonary stenosis10.6GFAP, SYP
27fraxf syndrome10.6S100B, SYP
28vitamin metabolic disorder10.6GFAP, SYP
29pulmonary venoocclusive disease10.6GFAP, S100B
30plexopathy10.6GFAP, SYP
31global developmental delay-lung cysts-overgrowth-wilms tumor syndrome10.6MME, VHL
32malignant granular cell esophageal tumor10.6GFAP, SYP
33hypogonadism cardiomyopathy10.6S100B, SYP
34gallbladder signet ring cell adenocarcinoma10.6MME, SYP
35congenital hypogammaglobulinemia10.6GFAP, SYP
36malignant pineal area germ cell neoplasm10.6GFAP, SYP
37hemiplegia alterans10.6GFAP, S100B
38ependymoblastoma10.6GFAP, SYP
39space motion sickness10.6S100B, SYP
40diencephalic astrocytomas10.5GFAP, SYP
41acute retinal necrosis syndrome10.5MME, PAX2
42pulmonary plasma cell granuloma10.5GFAP, SYP
43gangliocytoma10.5GFAP, INHA
44inflammatory mfh10.4INHA, S100B, SYP
45intracystic papillary adenoma10.4GFAP, S100B, SYP
46mucinous cystadenocarcinoma10.4INHA, VEGFA
47pineal parenchymal tumor of intermediate differenciation10.4GFAP, S100B, SYP
48iodine hypothyroidism10.4GFAP, S100B, SYP
49acanthoma10.4MME, SYP
50protoplasmic astrocytoma10.4GFAP, S100B, SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to hemangioblastoma

Symptoms & Phenotypes for Hemangioblastoma

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MGI Mouse Phenotypes related to Hemangioblastoma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1EZR, GFAP, INHA, KRT8, VEGFA, VHL
2MP:00053708.6EPO, EPOR, INHA, KRT8, MME, VEGFA
3MP:00053808.4EPO, EPOR, KRT8, PAX2, SLC2A1, VEGFA
4MP:00053858.1EPO, EPOR, GFAP, INHA, KRT8, PAX2
5MP:00053878.0EPO, EPOR, EZR, GFAP, INHA, KRT8
6MP:00028737.6EPO, EPOR, GFAP, INHA, S100B, SYP
7MP:00053767.5EPO, EPOR, GFAP, INHA, KRT8, MME
8MP:00107687.3EPO, EPOR, EZR, GFAP, INHA, KRT8

Drugs & Therapeutics for Hemangioblastoma

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sunitinibapproved, investigationalPhase 2500341031-54-7, 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 (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
2
PancrelipaseapprovedPhase 293553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
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 23612
5Angiogenesis Modulating AgentsPhase 2, Early Phase 14072
6Angiogenesis InhibitorsPhase 2, Early Phase 14143
7Cytochrome P-450 CYP3A InducersPhase 21101
8pancreatinPhase 2935
9
Vorinostatapproved, investigationalPhase 1242149647-78-95311
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
10Histone Deacetylase InhibitorsPhase 1566
11
Bevacizumabapproved, investigationalEarly Phase 11968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
12Mitogens1526
13Endothelial Growth Factors362

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
3TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
4Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
5Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
6Endolymphatic 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
7Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
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 DiseaseTerminatedNCT01015300Early Phase 1

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:

36
Spinal cord, Brain, Cerebellum, Retina, Endothelial, Pituitary, Kidney

Publications for Hemangioblastoma

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Articles related to Hemangioblastoma:

(show top 50)    (show all 625)
idTitleAuthorsYear
1
Image-guided stereotactic radiosurgery for treatment of spinal hemangioblastoma. (28041328)
2017
2
Diagnosis and microsurgical treatment of spinal hemangioblastoma. (26908123)
2016
3
Refractory Orthostatic Hypotension Caused by a Recurrent Hemangioblastoma: Case Report and Review of the Literature. (27158570)
2016
4
Coexistence of intracranial aneurysm and hemangioblastoma: A case report and literature review. (27339833)
2016
5
Surgical treatment of sporadic and von Hippel-Lindau syndrome-associated intramedullary hemangioblastomas. (27591060)
2016
6
Acute hemorrhagic paraplegia in a thoracic spinal hemangioblastoma after free diving. (27683699)
2016
7
Solid hemangioblastoma in the cerebellopontine angle: Importance of external carotid blood supply with regard to the probable site of origin and preoperative embolization. (26862451)
2016
8
Magnetic resonance imaging findings in spinal hemangioblastoma case. (26892370)
2016
9
Stereotactic radiosurgery in hemangioblastoma: Experience over 14 years. (26933339)
2016
10
Gamma Knife radiosurgery for intracranial hemangioblastoma. (27422585)
2016
11
Role of preoperative embolization of intramedullary hemangioblastoma. (27236735)
2016
12
Surgical Treatment of Hemangioblastoma in the Pituitary Stalk: An Extremely Rare Case. (26847309)
2016
13
Delayed presentation of an arteriovenous malformation after cerebellar hemangioblastoma resection-Case report. (27086272)
2016
14
Infundibular Hemangioblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Review of the Literature. (26724614)
2016
15
Metastatic cerebellar tumor of papillary thyroid carcinoma mimicking cerebellar hemangioblastoma. (27386360)
2016
16
Atypical onset of sciatica in a patient with a filum terminale hemangioblastoma. (28011175)
2016
17
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. (28033220)
2016
18
Usefulness of high-resolution 3D multifusion medical imaging for preoperative planning in patients with posterior fossa hemangioblastoma: technical note. (27564468)
2016
19
Cerebellospinal hemangioblastoma with bilateral pheochromocytoma and hepatic cyst: A rare entity. (27366269)
2016
20
Study of angiogenic signaling pathways in hemangioblastoma. (27388534)
2016
21
Spontaneous Devascularization and Detachment of Optic Nerve Hemangioblastoma in a Patient With Von Hippel-Lindau Disease. (27608053)
2016
22
Relationship between Spinal Hemangioblastoma Location and Age. (27114772)
2016
23
Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis. (26768750)
2016
24
Sporadic intramedullary hemangioblastoma with holo-hydrosyringomyelia. (26961196)
2016
25
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-I+ binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. (27439424)
2016
26
Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. (26514359)
2016
27
Cerebellar Hemangioblastoma. (26958149)
2016
28
Successful surgical strategy for a cervical hemangioblastoma: Case report. (27843681)
2016
29
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma. (26920352)
2016
30
Hemangioblastoma located in the posterior incisural space mimicking a tentorial meningioma: a case report. (27339157)
2016
31
Intramedullary hemangioblastoma: Microsurgical resection technique. (26776665)
2016
32
Retraction: Solid hemangioblastoma in the cerebellopontine angle: Importance of external carotid blood supply with regard to the probable site of origin and preoperative embolization. (27127707)
2016
33
VITREORETINAL SURGERY FOR PATIENTS WITH SEVERE EXUDATIVE AND PROLIFERATIVE MANIFESTATIONS OF RETINAL CAPILLARY HEMANGIOBLASTOMA BECAUSE OF VON HIPPEL-LINDAU DISEASE. (27533771)
2016
34
Differentiation of Hemangioblastoma from Metastatic Brain Tumor using Dynamic Contrast-enhanced MR Imaging. (26952018)
2016
35
Isolated hemangioblastoma of the cervical spinal cord: A case report and literature review. (27424104)
2016
36
Suprasellar Hemangioblastoma Unrelated to von Hippel-Lindau Disease Successfully Treated through Extended Transsphenoidal Approach: Diagnostic Value of Von Hippel-Lindau Disease Gene-Derived Protein. (27123746)
2016
37
Cerebellar hemangioblastoma mimicking an aneurysm: A case report and literature review. (27698835)
2016
38
Differences in Multimodality Intraoperative Neurophysiological Monitoring Changes Between Spinal Intramedullary Ependymoma and Hemangioblastoma. (26690548)
2016
39
Sporadic intramedullary hemangioblastoma of the spine: a single institutional review of 21 cases. (26355433)
2015
40
Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients. (26394686)
2015
41
Spinal hemangioblastoma combined with pilocytic astrocytoma. (26166599)
2015
42
One-shot" endovascular management of cerebral aneurysm and fourth ventricle hemangioblastoma in a pregnant woman. (25480389)
2015
43
Early-stage hemangioblastoma presenting as a small lesion with significant edema in the cerebellum. (25699527)
2015
44
Suprasellar hemangioblastoma without von Hippel-Lindau disease: a case report and literature review. (26261668)
2015
45
Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau disease. (26517769)
2015
46
Specific immunohistochemical pattern of carbonic anhydrase IX is helpful for the diagnosis of CNS hemangioblastoma. (25888144)
2015
47
Editorial: Management of hemangioblastomas in patients with von Hippel-Lindau disease: stereotactic radiosurgery compared to surgical excision. (25816089)
2015
48
Genetic imprinting suggested by maternal DNA methylation in CNS hemangioblastoma with clinical phenotypes of VHL disease. (26093619)
2015
49
A case of a choroid plexus papilloma mimicking a hemangioblastoma-letter to the editor. (26249660)
2015
50
A case of 3p deletion syndrome associated with cerebellar hemangioblastoma. (26365017)
2015

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
1astrocyte projectionGO:009744910.6EZR, GFAP
2cell bodyGO:004429710.3EPO, EZR, GFAP
3neuron projection terminusGO:004430610.2MME, SYP
4vesicleGO:00319829.3EZR, MUC1, SLC2A1
5extracellular spaceGO:00056158.4EPO, EZR, INHA, MUC1, S100B, VEGFA

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:004254110.5EPO, INHA
2regulation of neuronal synaptic plasticityGO:004816810.0S100B, SYP
3positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.7PAX2, VEGFA
4epithelial cell differentiationGO:00308559.7EZR, MUC1, VEGFA
5regulation of cell shapeGO:00083609.4EZR, S100B, VEGFA
6regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.3EPO, VEGFA, VHL
7positive regulation of cell proliferationGO:00082848.6EPO, EPOR, PAX2, S100B, VEGFA

Molecular functions related to Hemangioblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1S100 protein bindingGO:00445489.6EZR, S100B
2identical protein bindingGO:00428029.3EPOR, S100B, SLC2A1, SYP, VEGFA
3protein bindingGO:00055155.0EPO, EPOR, EZR, GFAP, INHA, KRT8

Sources for Hemangioblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet