RB
MCID: RTN024
MIFTS: 86

Retinoblastoma (RB) malady

Eye diseases, Cancer diseases, Neuronal diseases categories

Summaries for Retinoblastoma

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Retinoblastoma (rb) is a rare type of eye cancer in the retina that typically develops before the age of 5. it usually affects only one eye, but 1/3 of children with rb develop cancer in both eyes. the first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is particularly noticeable in photographs taken with a flash. other signs and symptoms include strabismus; persistent eye pain, redness or irritation; and blindness or poor vision in the affected eye(s). retinoblastoma is caused by mutations in the rb1 gene. in about 60% of people with retinoblastoma, mutations are not inherited and occur only in retinal cells. in the other 40% of individuals, mutations are inherited from a parent in an autosomal dominant pattern and can be found in all body cells. retinoblastoma that is caused by an inherited mutation is called hereditary retinoblastoma. hereditary retinoblastoma usually occurs at a younger age than retinoblastoma that is not inherited (15 months vs. 24 months). retinoblastoma that occurs in only one eye is usually not inherited. retinoblastoma that occurs in both eyes is thought to be inherited. last updated: 4/4/2012

MalaCards: Retinoblastoma, also known as RB, is related to breast cancer and osteosarcoma, and has symptoms including autosomal dominant inheritanceand retinoblastoma. An important gene associated with Retinoblastoma is RB1 (retinoblastoma 1), and among its related pathways are Cell Cycle and E2F transcription factor network. The drug cyclophosphamide and the compounds polypropylene glycol and hpvs have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and breast, and related mouse phenotypes are tumorigenesis and cellular.

Disease Ontology:8 A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives from the tissues of the retina.

Genetics Home Reference:21 Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.

Wikipedia:63 Retinoblastoma (Rb) is a rapidly developing cancer that develops from the immature cells of a retina,... more...

Description from OMIM:46 180200

GeneReviews summary for retinoblastoma

Aliases & Classifications for Retinoblastoma

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42NIH Rare Diseases, 60UMLS, 8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 20GeneTests, 22GTR, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Eye diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
retinoblastoma:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

retinoblastoma 8 9 63 19 42 21 46 10 44 48 60
rb 8 63 42 21
retinoblastomas 8 20 22
glioma, retinal 63 21
malignant neoplasm of retina 60
eye cancer, retinoblastoma 42
neuroblastoma of retina 8
neuroblastoma, retinal 63
papillorenal syndrome 60
glioblastoma, retinal 63
rb - retinoblastoma 8
retinoblastoma nos 8
retinal neoplasms 60
retinal cancer 42
retinal tumor 42


External Ids:

Disease Ontology8 DOID:768
OMIM46 180200
NCIt39 C7541, C6956
MeSH34 D012175
ICD10 via Orphanet26 C69.2
SNOMED-CT via Orphanet57 19906005, 370967009
UMLS via Orphanet61 C0035335
MESH via Orphanet35 D012175

Related Diseases for Retinoblastoma

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Retinoblastoma family:

Familial Retinoblastoma

Diseases related to Retinoblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 263)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.8ARID4B, ARID4A, E2F1, RB1, RBBP8, RBL2
2osteosarcoma30.7RB1, E2F1, RBL2, RBL1
3lung cancer30.7E2F1, RBL1, RB1, PRDM2, RBL2
4melanoma30.6E2F1, ARID4A, RB1, RBL2, RBL1
5neuroblastoma30.4DDX1
6lung small cell carcinoma30.3RB1, E2F1, RBL2, RBL1
7cervical cancer30.2RB1
8papilloma30.2E2F1, RBL2, RBL1, RB1
9medulloblastoma30.0PRDM2, E2F1
10ovarian cancer29.9RB1, E2F1, PRDM2
11bilateral retinoblastoma10.9
12familial retinoblastoma10.8
13intraocular retinoblastoma10.8
14trilateral retinoblastoma10.8
15unilateral retinoblastoma10.7
16renal coloboma syndrome10.6
17retinitis10.5
18neuronitis10.5
19prostatitis10.5
20squamous cell carcinoma10.5
21leukemia10.4
22extraocular retinoblastoma10.4
23sarcoma10.4
24cervicitis10.4
25adenocarcinoma10.3
26prostate cancer10.3
27thyroiditis10.3
28cellulitis10.3
29orbital cellulitis10.3
30small cell carcinoma10.3
31leiomyosarcoma10.3
32roberts syndrome10.3
33esophagitis10.3
34acute leukemia10.2
35hepatocellular carcinoma10.2
36pineoblastoma10.2
37coats disease10.2
38bladder carcinoma10.2
39non-small cell lung carcinoma10.2
40adenoma10.2
41myeloma10.2
42pancreatitis10.2
43pediatric extraocular retinoblastoma10.1
44leukocoria10.1
45pediatric intraocular retinoblastoma10.1
46astrocytoma10.1
47esophageal cancer10.1
48multiple myeloma10.1
49primitive neuroectodermal tumor10.1
50retinoblastoma fa - friedreich ataxia10.1

Graphical network of the top 20 diseases related to Retinoblastoma:



Diseases related to retinoblastoma

Clinical Features for Retinoblastoma

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46OMIM, 48Orphanet
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Clinical features from OMIM:

180200

Clinical synopsis from OMIM:

180200

Symptoms:

48
  • autosomal dominant inheritance
  • retinoblastoma

Drugs & Therapeutics for Retinoblastoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Retinoblastoma

Drug clinical trials:

Search ClinicalTrials for Retinoblastoma

Search NIH Clinical Center for Retinoblastoma

Search CenterWatch for Retinoblastoma

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Retinoblastoma

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20GeneTests, 22GTR
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Genetic tests related to Retinoblastoma:

id Genetic test Affiliating Genes
1 Retinoblastoma20 22 RB1

Anatomical Context for Retinoblastoma

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32MalaCards
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MalaCards organs/tissues related to Retinoblastoma:

32
Retina, Eye, Breast, Lung, Prostate, Pituitary, Thyroid, T cells, Bone, Endothelial, Adipocyte, Pineal, B cells, Smooth muscle, Colon, Liver, Monocytes, Brain, Testes, Myeloid, Skin, Pancreas, Cervix, Spinal cord, Nk cells, Testis, Placenta, Bone marrow, Salivary gland, Cardiac myocytes

Animal Models for Retinoblastoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Retinoblastoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200611.9KDM5A, E2F1, ARID4A, ARID4B, RB1, RBBP8
2MP:000538411.9UBR4, E2F1, ARID4A, ARID4B, RBBP6, RB1
3MP:001076811.9ARID4B, ARID4A, E2F1, UBR4, RBBP6, RB1
4MP:000538011.7UBR4, E2F1, RBBP6, RB1, RBBP8, RBL2
5MP:000538811.4ARID4A, ARID4B, RB1, RBL2, RBL1, E2F1

Publications for Retinoblastoma

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Sources:
50PubMed
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Articles related to Retinoblastoma:

(show top 50)    (show all 2172)
idTitleAuthorsYear
1
Salvage/adjuvant brachytherapy after ophthalmic artery chemosurgery for intraocular retinoblastoma. (23953635)
2013
2
Retinoblastoma in an adult. (24059980)
2013
3
Retinoblastoma: geographic distribution and presentation at a tertiary eye care centre in Kathmandu, Nepal. (24172550)
2013
4
Multiple atypical recurrent meningiomas 13 years after radiotherapy for unilateral retinoblastoma: case report and review of the literature. (23487298)
2013
5
Bilateral retinoblastoma: clinical presentation, management and treatment. (23277210)
2013
6
Orthotopic transplantation of retinoblastoma cells into vitreous cavity of zebrafish for screening of anticancer drugs. (23835085)
2013
7
The treatment of retinoblastoma with four-drug regimen including cisplatin, etoposide, vincristine, and cyclophosphamide. (22759219)
2012
8
Recurring multifocal leiomyosarcoma of the urinary bladder 22 years after therapy for bilateral (hereditary) retinoblastoma: a case report and review of the literature. (22716012)
2012
9
ARF1 controls proliferation of breast cancer cells by regulating the retinoblastoma protein. (21478909)
2011
10
Retinoblastoma presenting as strabismus and leukocoria. (20869724)
2010
11
Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations. (18503160)
2008
12
The extreme COOH terminus of the retinoblastoma tumor suppressor protein pRb is required for phosphorylation on Thr-373 and activation of E2F. (18768921)
2008
13
Cell cycle association of the retinoblastoma protein Rb and the histone demethylase LSD1 with the Epstein-Barr virus latency promoter Cp. (18216119)
2008
14
Basic fibroblast growth factor impact on retinoblastoma progression and survival. (18614803)
2008
15
GFP reporter mice for the retinoblastoma-related cell cycle regulator p107. (18719374)
2008
16
Anti-tumor activity of arginine deiminase via arginine deprivation in retinoblastoma. (17982619)
2007
17
Distinct action of the retinoblastoma pathway on the DNA replication machinery defines specific roles for cyclin-dependent kinase complexes in prereplication complex assembly and S-phase progression. (16908528)
2006
18
Expression analysis of 6p22 genomic gain in retinoblastoma. (16180235)
2006
19
Membrane depolarization stimulates the proliferation of SH-SY5Y human neuroblastoma cells by increasing retinoblastoma protein (RB) phosphorylation through the activation of cyclin-dependent kinase 2 (Cdk2). (16824683)
2006
20
Epstein-Barr virus latent antigen 3C can mediate the degradation of the retinoblastoma protein through an SCF cellular ubiquitin ligase. (16352731)
2005
21
Genomic retinoblastoma perspectives: implications of tumor supressor gene RB1]. (16315642)
2005
22
Functional characterization of JMJD2A, a histone deacetylase- and retinoblastoma-binding protein. (15927959)
2005
23
The central acidic domain of MDM2 is critical in inhibition of retinoblastoma-mediated suppression of E2F and cell growth. (15485814)
2004
24
Methylation status of RB1 promoter in Indian retinoblastoma patients. (14726655)
2004
25
Retinoblastoma protein and CCAAT/enhancer-binding protein beta are required for 1,25-dihydroxyvitamin D3-induced monocytic differentiation of HL60 cells. (14729647)
2004
26
Globe conserving treatment of the only eye in bilateral retinoblastoma. (14609838)
2003
27
Characterization of protein kinase C beta isoform's action on retinoblastoma protein phosphorylation, vascular endothelial growth factor-induced endothelial cell proliferation, and retinal neovascularization. (11805327)
2002
28
Combined chemotherapy and local treatment in the management of intraocular retinoblastoma. (11984802)
2002
29
Curcumin-induced suppression of cell proliferation correlates with down-regulation of cyclin D1 expression and CDK4-mediated retinoblastoma protein phosphorylation. (12483537)
2002
30
Brief report: conservative treatment in unilateral retinoblastoma: a preliminary report. (11984807)
2002
31
The induction of uterine leiomyomas and mammary tumors in transgenic mice expressing polyomavirus (PyV) large T (LT) antigen is associated with the ability of PyV LT antigen to form specific complexes with retinoblastoma and CUTL1 family members. (9591780)
1998
32
Regulation of differentiation by HBP1, a target of the retinoblastoma protein. (9671483)
1998
33
Pathological and histological study on retinoblastoma. (9846055)
1998
34
A new member of the hsp90 family of molecular chaperones interacts with the retinoblastoma protein during mitosis and after heat shock. (8756626)
1996
35
Disruption of retinoblastoma protein function by coexpression of its C pocket fragment. (7828850)
1995
36
Mutation spectrum of the retinoblastoma gene in osteosarcomas. (8187094)
1994
37
Trans-activation of the adenovirus E2 promoter by human papillomavirus type 16 E7 is mediated by retinoblastoma-dependent and -independent pathways. (8245866)
1993
38
Physical interaction of the retinoblastoma protein with human D cyclins. (8490963)
1993
39
p53, retinoblastoma, and human papillomavirus in squamous cell carcinoma and adjacent normal mucosa of the upper aerodigestive tract. (8398064)
1993
40
An immunohistochemical study of retinoblastoma]. (7513273)
1993
41
Quantitative effects of the retinoblastoma gene on mouse development and tissue-specific tumorigenesis. (8117619)
1993
42
Utilization of a polymorphic variable-number-tandem-repeat DNA region within the RB1 gene for early diagnosis of hereditary retinoblastoma. (8100222)
1993
43
The role of cell cycle control genes (the retinoblastoma susceptibility gene and cdc2 gene) in proliferation and differentiation of hematopoietic cells]. (1593182)
1992
44
Malignant myoepithelioma after radiation for retinoblastoma. (1329515)
1992
45
Human Y-79 retinoblastoma cells express functional corticotropin-releasing hormone receptors. (1333348)
1992
46
Early diagnosis of bilateral retinoblastoma reduces death and blindness. (2744895)
1989
47
An abnormal expression of a tumor-activated multigenic set in cells from cancer prone patients with inherited Fanconi's anemia (FA) and retinoblastoma (Rb). (3359423)
1988
48
Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation. (3365680)
1988
49
Treatment of trilateral retinoblastoma with vincristine and cyclophosphamide. (3777087)
1986
50
Chromosome fragility in patients with sporadic unilateral retinoblastoma. (6692335)
1984

Genetic Variations for Retinoblastoma

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Retinoblastoma:

62 (show all 22)
id Symbol AA change Variation ID SNP ID
1RB1p.Glu72GlnVAR_005572
2RB1p.Glu137AspVAR_005573
3RB1p.Ile185ThrVAR_005574
4RB1p.Arg358GlnVAR_005575
5RB1p.Met457ArgVAR_005576
6RB1p.His549TyrVAR_005578
7RB1p.Ser567LeuVAR_005579
8RB1p.Ala635ProVAR_005580
9RB1p.Val654GluVAR_005581
10RB1p.Arg661TrpVAR_005582
11RB1p.Leu662ProVAR_005583
12RB1p.His673ProVAR_005584
13RB1p.Gln685ProVAR_005585
14RB1p.Cys706TyrVAR_005586
15RB1p.Cys712ArgVAR_005587
16RB1p.Asn803LysVAR_005588
17RB1p.Arg358GlyVAR_010046
18RB1p.Lys447GlnVAR_010048
19RB1p.Lys530ArgVAR_010049
20RB1p.Leu657ProVAR_010050
21RB1p.Arg500GlyVAR_011580
22RB1p.Lys616GluVAR_011581

Expression for genes affiliated with Retinoblastoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinoblastoma

Search GEO for disease gene expression data for Retinoblastoma.

Pathways for genes affiliated with Retinoblastoma

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53Reactome, 37NCBI BioSystems Database, 4Cell Signaling Technology, 51QIAGEN, 12EMD Millipore, 29KEGG
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Pathways related to Retinoblastoma according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.5NDC80, E2F1, RB1, RBL2, RBBP7, RBBP4
211.4RBL1, RBBP4, RBL2, RBBP8, RB1, E2F1
311.4RBBP5, RBBP7, RBBP4, RNF40, KDM5A, KDM5B
4
Hide members
11.2RB1, RBL2, RBBP7, RBBP4, RBL1
5
Hide members
11.2E2F1, RB1, RBL2, RBBP4, RBL1
6
Cell cycle Cell cycle (generic schema)
Hide members
11.2E2F1, RB1, RBL2, RBBP4, RBL1
7
Transcription P53 signaling pathway
Hide members
11.1RBBP4, RBBP7, RB1, E2F1
8
Hide members
11.1E2F1, RB1, RBBP8, RNF40
9
Hide members
11.1ARID4A, ARID4B, RBBP7, RBBP4
10
Hide members
11.1RBL1, RBL2, RB1, E2F1
11
Hide members
11.1E2F1, RB1, RBL2, RBL1
1211.1E2F1, RB1, RBL2, RBL1
1311.1UBR4, RB1, RBL2, RBL1
14
Hide members
10.9RBBP8, RBBP7, RBBP4
1510.9E2F1, RB1, RBBP8
1610.9RBBP8, RB1, E2F1
1710.9RBL1, RBBP4, RBBP7
1810.9E2F1, RBBP7, RBBP4
1910.9RBL1, RBL2, RB1
2010.9RBL2, RB1, E2F1
2110.8RB1, E2F1
2210.8RB1, E2F1

Compounds for genes affiliated with Retinoblastoma

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Retinoblastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polypropylene glycol4411.1RBL1, RBL2, RB1
2hpvs4411.1RB1, RBL2, RBL1
3dihydrofolate4411.0RBL1, RB1, E2F1
4flavopiridol44 1112.0E2F1, RB1, RBL1
5tgf beta14410.9RBL1, RBL2, E2F1
6lactacystin4410.8RBL1, RBL2, E2F1
7butyrolactone i4410.8RB1, E2F1
8lovastatin44 49 59 28 1114.6E2F1, RB1, RBL1

GO Terms for genes affiliated with Retinoblastoma

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00563413.0KDM5B, NDC80, UBR4, E2F1, ARID4A, ARID4B
2nucleoplasmGO:00565411.3E2F1, RB1, RBL2, RBBP7, RBBP4, RBL1
3Rb-E2F complexGO:03518910.8RB1, E2F1
4NuRD complexGO:01658110.8RBBP4, RBBP7
5ESC/E(Z) complexGO:03509810.5RBBP4, RBBP7

Biological processes related to Retinoblastoma according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-dependentGO:00635112.4E2F1, ARID4B, RBBP5, RB1, RBL2, RBBP7
2regulation of transcription, DNA-dependentGO:00635511.6E2F1, ARID4B, RBBP5, RBL2, RBBP4, DDX1
3mitotic cell cycleGO:00027811.6NDC80, E2F1, RB1, RBL2, RBBP4, RBL1
4regulation of lipid kinase activityGO:04355011.2RBL1, RBL2, RB1
5histone H3-K9 trimethylationGO:03612411.0ARID4A, ARID4B
6chromatin modificationGO:01656810.9KDM5A, RBL1, RBL2
7negative regulation of transcription involved in G1/S transition of mitotic cell cycleGO:07193010.9RB1, E2F1
8histone H4-K20 trimethylationGO:03477310.9ARID4B, ARID4A
9CENP-A containing nucleosome assembly at centromereGO:03408010.8RBBP4, RBBP7
10cell cycle checkpointGO:00007510.7RB1, RBBP8
11regulation of gene expression by genetic imprintingGO:00634910.5ARID4B, ARID4A

Molecular functions related to Retinoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.8KDM5B, NDC80, UBR4, E2F1, ARID4B, RBBP6
2DNA bindingGO:00367711.8E2F1, ARID4A, ARID4B, RB1, RBL2, DDX1
3zinc ion bindingGO:00827011.4RBBP6, PRDM2, RNF40, KDM5A, KDM5B, UBR4
4sequence-specific DNA binding transcription factor activityGO:00370011.3E2F1, ARID4A, RB1, PRDM2, KDM5A, KDM5B
5oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donGO:01670610.5KDM5B, KDM5A

Products for genes affiliated with Retinoblastoma

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Retinoblastoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet