Retinoblastoma disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

RB MCID: RTN024 MIFTS: 86	Retinoblastoma (RB) malady Eye diseases, Cancer diseases, Neuronal diseases categories
2 symptoms, 1 drug, 697 genes, 30 tissues, 263 related diseases, clinical trials, genetic tests.

Summaries for Retinoblastoma

Sources:
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 retinoblastomaand autosomal dominant inheritance. 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

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

Classifications:

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

ICD10: ²⁶

Neoplasms

Malignant neoplasms of eye, brain and other parts of central nervous system

Malignant neoplasm of eye and adnexa

Malignant neoplasm: Retina

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

glioblastoma, retinal ⁶³

papillorenal syndrome ⁶⁰

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

SNOMED-CT⁵⁶ 370967009, 189935007, 134191003 189934006, 154553002, 19906005, 269614001, more

ICD10 via Orphanet²⁶ C69.2

SNOMED-CT via Orphanet⁵⁷ 19906005, 370967009

UMLS via Orphanet⁶¹ C0035335

MESH via Orphanet³⁵ D012175

UMLS⁶⁰ C0035335

Related Diseases for Retinoblastoma

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	breast cancer	30.8	ARID4B, ARID4A, E2F1, RB1, RBBP8, RBL2
2	osteosarcoma	30.7	RB1, E2F1, RBL2, RBL1
3	lung cancer	30.7	E2F1, RBL1, RB1, PRDM2, RBL2
4	melanoma	30.6	E2F1, ARID4A, RB1, RBL2, RBL1
5	neuroblastoma	30.4	DDX1
6	lung small cell carcinoma	30.3	RB1, E2F1, RBL2, RBL1
7	cervical cancer	30.2	RB1
8	papilloma	30.2	E2F1, RBL2, RBL1, RB1
9	medulloblastoma	30.0	PRDM2, E2F1
10	ovarian cancer	29.9	RB1, E2F1, PRDM2
11	bilateral retinoblastoma	10.9
12	familial retinoblastoma	10.8
13	intraocular retinoblastoma	10.8
14	trilateral retinoblastoma	10.8
15	unilateral retinoblastoma	10.7
16	renal coloboma syndrome	10.6
17	retinitis	10.5
18	neuronitis	10.5
19	prostatitis	10.5
20	squamous cell carcinoma	10.5
21	leukemia	10.4
22	extraocular retinoblastoma	10.4
23	sarcoma	10.4
24	cervicitis	10.4
25	adenocarcinoma	10.3
26	prostate cancer	10.3
27	thyroiditis	10.3
28	cellulitis	10.3
29	orbital cellulitis	10.3
30	small cell carcinoma	10.3
31	leiomyosarcoma	10.3
32	roberts syndrome	10.3
33	esophagitis	10.3
34	acute leukemia	10.2
35	hepatocellular carcinoma	10.2
36	pineoblastoma	10.2
37	coats disease	10.2
38	bladder carcinoma	10.2
39	non-small cell lung carcinoma	10.2
40	adenoma	10.2
41	myeloma	10.2
42	pancreatitis	10.2
43	pediatric extraocular retinoblastoma	10.1
44	leukocoria	10.1
45	pediatric intraocular retinoblastoma	10.1
46	astrocytoma	10.1
47	esophageal cancer	10.1
48	multiple myeloma	10.1
49	primitive neuroectodermal tumor	10.1
50	retinoblastoma fa - friedreich ataxia	10.1

Graphical network of the top 20 diseases related to Retinoblastoma:

Clinical Features for Retinoblastoma

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

Clinical features from OMIM:

180200

Clinical synopsis from OMIM:

180200

Symptoms:

⁴⁸

retinoblastoma

autosomal dominant inheritance

Drugs & Therapeutics for Retinoblastoma

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

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:

cyclophosphamide

Genetic Tests for Retinoblastoma

Sources:
²⁰GeneTests, ²²GTR
See all sources

Genetic tests related to Retinoblastoma:

id	Genetic test	Affiliating Genes
1	Retinoblastoma²⁰ ²²	RB1

Anatomical Context for Retinoblastoma

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Retinoblastoma:

³²

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

Animal Models for Retinoblastoma or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Retinoblastoma:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	tumorigenesis	MP:0002006	11.9	KDM5A, E2F1, ARID4A, ARID4B, RB1, RBBP8
2	cellular phenotype	MP:0005384	11.9	UBR4, E2F1, ARID4A, ARID4B, RBBP6, RB1
3	mortality/aging	MP:0010768	11.9	ARID4B, ARID4A, E2F1, UBR4, RBBP6, RB1
4	embryogenesis phenotype	MP:0005380	11.7	UBR4, E2F1, RBBP6, RB1, RBBP8, RBL2
5	respiratory system phenotype	MP:0005388	11.4	ARID4A, ARID4B, RB1, RBL2, RBL1, E2F1

Publications for Retinoblastoma

Sources:
⁵⁰PubMed
See all sources

Articles related to Retinoblastoma:

(show top 50) (show all 2172)

id	Title	Authors	Year
1	Post-chemoreduction cryptic optic nerve relapse in a patient with bilateral retinoblastoma. (23172878)	Shetye N.G.... Munier F.L.	2013
2	Clinical Pharmacokinetics of Intra-arterial Melphalan and Topotecan Combination in Patients with Retinoblastoma. (24359624)	Taich P.... Schaiquevich P.	2013
3	Retinoblastoma. (24100372)	Villegas V.M.... Murray T.G.	2013
4	Increased leaf mesophyll porosity following transient retinoblastoma-related protein silencing is revealed by microcomputed tomography imaging and leads to a system-level physiological response to the altered cell division pattern. (24118480)	Dorca-Fornell C.... Fleming A.	2013
5	Arterial territory-specific phosphorylated retinoblastoma protein species and CDK2 promote differences in the vascular smooth muscle cell response to mitogens. (24240190)	Lange M.... Usheva A.	2013
6	Anti-apoptotic function of the E2F transcription factor 4 (E2F4)/p130, a member of retinoblastoma gene family in cardiac myocytes. (22985930)	Dingar D.... von Harsdorf R.	2012
7	Selective ophthalmic arterial injection therapy for intraocular retinoblastoma: the long-term prognosis. (21715012)	Suzuki S.... Kaneko A.	2011
8	Periocular topotecan for intraocular retinoblastoma. (21670340)	Mallipatna A.C.... Gallie B.L.	2011
9	Detection of survivin protein in aqueous humor and serum of retinoblastoma patients and its clinical significance. (19913527)	Shehata H.H.... Mohamed S.S.	2010
10	B55alpha PP2A holoenzymes modulate the phosphorylation status of the retinoblastoma-related protein p107 and its activation. (20663872)	Jayadeva G.... GraA+a X.	2010
11	Paclitaxel and beta-lapachone synergistically induce apoptosis in human retinoblastoma Y79 cells by downregulating the levels of phospho-Akt. (19918798)	D'Anneo A.... Vento R.	2010
12	Isolated group B streptococcal endogenous endophthalmitis simulating retinoblastoma or persistent fetal vasculature in a healthy full-term infant. (20637664)	McCourt E.A.... Oliver S.C.	2010
13	Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma. (18509746)	Mitter D.... Lohmann D.R.	2009
14	The p53-mediated sensitivity of cancer cells to chemotherapeutic agents is conditioned by the status of the retinoblastoma protein. (19731257)	Derenzini M.... TrerAc D.	2009
15	Expression of cyclin D1 and retinoblastoma protein in Paget's disease of the vulva and breast: an immunohistochemical study of 108 cases. (19919588)	Ellis P.E.... Perrett C.W.	2009
16	Expression of retinoblastoma and cyclin D1 in gastric carcinoma. (19152247)	Arici D.S.... Koyuncu A.	2009
17	Role of DEAD box 1 in retinoblastoma and neuroblastoma. (17927523)	Godbout R.... Roy K.	2007
18	A functional genetic screen identifies TFE3 as a gene that confers resistance to the anti-proliferative effects of the retinoblastoma protein and transforming growth factor-beta. (16737956)	Nijman S.M.... Bernards R.	2006
19	Expression of altered retinoblastoma protein inversely correlates with tumor invasion in gastric carcinoma. (17131485)	Chou N.H.... Tseng H.H.	2006
20	Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. (15884040)	Nichols K.E.... Ganguly A.	2005
21	Retinoic acid modulates the retinoblastoma protein during adipocyte terminal differentiation. (15949692)	Ribot J.... Palou A.	2005
22	A retinoic acid receptor beta/gamma-selective prodrug (tazarotene) plus a retinoid X receptor ligand induces extracellular signal-regulated kinase activation, retinoblastoma hypophosphorylation, G0 arrest, and cell differentiation. (15383624)	Yen A.... Varvayanis S.	2004
23	Human pituitary adenomas infrequently contain inactivation of retinoblastoma 1 gene and activation of cyclin dependent kinase 4 gene. (12940460)	Honda S.... Yoshimoto K.	2003
24	Binding of phosphatase-1 delta to the retinoblastoma protein pRb involves domains that include substrate recognition residues and a pRB binding motif. (11162467)	Bianchi M.... Villa-Moruzzi E.	2001
25	Src family kinase activity is required for Kit-mediated mitogen-activated protein (MAP) kinase activation, however loss of functional retinoblastoma protein makes MAP kinase activation unnecessary for growth of small cell lung cancer cells. (10910097)	Bondzi C.... Krystal G.W.	2000
26	p16INK4A is regularly expressed in Hodgkin's disease: comparison with retinoblastoma, p53 and MDM2 protein status, and the presence of Epstein-Barr virus. (10574604)	Guenova M.... Kittas C.	1999
27	Distinct roles for PP1 and PP2A in phosphorylation of the retinoblastoma protein. PP2a regulates the activities of G(1) cyclin-dependent kinases. (10542219)	Yan Y.... Mumby M.C.	1999
28	Inhibition of myeloma cell growth by all-trans retinoic acid is associated with upregulation of p21WAF1 and dephosphorylation of the retinoblastoma protein. (10706449)	Lavelle D.... DeSimone J.	1999
29	Nasopharyngeal carcinomas frequently lack the p16/MTS1 tumor suppressor protein but consistently express the retinoblastoma gene product. (9546345)	Gulley M.L.... Geradts J.	1998
30	Cyclin D1 and retinoblastoma protein expression in Kaposi's sarcoma. (9449484)	Horenstein M.G.... Louie D.C.	1997
31	The retinoblastoma family member p107 binds to B-MYB and suppresses its autoregulatory activity. (8910512)	Sala A.... Peschle C.	1996
32	Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma. (8900237)	Kato M.V.... Ikawa Y.	1996
33	Retinoblastoma protein positively regulates terminal adipocyte differentiation through direct interaction with C/EBPs. (8946919)	Chen P.L.... Lee W.H.	1996
34	Constitutional nonsense germline mutations in the RB1 gene detected in patients with early onset unilateral retinoblastoma. (8983285)	Cowell J.K.... Cragg H.	1996
35	Abnormalities and the implication of retinoblastoma locus and its protein product in head and neck cancers. (8687109)	Yokoyama J.... Takasaka T.	1996
36	The retinoblastoma susceptibility gene product regulates Myc-mediated transcription. (7838535)	Adnane J.... Robbins P.D.	1995
37	Functional interactions between the retinoblastoma (Rb) protein and Sp-family members: superactivation by Rb requires amino acids necessary for growth suppression. (7732011)	Udvadia A.J.... Horowitz J.M.	1995
38	Cyclin D1 expression is regulated by the retinoblastoma protein. (8159685)	MA1ller H.... Strauss M.	1994
39	The retinoblastoma gene in human pituitary tumors. (7690360)	Cryns V.L.... Arnold A.	1993
40	PCR detection of Xbal polymorphism in the human Rb gene of retinoblastoma patients. (7906172)	Costanzi E.... Armelin M.C.	1993
41	Cloning of a new member of the retinoblastoma gene family (pRb2) which binds to the E1A transforming domain. (8361765)	Mayol X.... Giordano A.	1993
42	Use of a retinoblastoma gene probe to investigate clonality in Richter's syndrome. (8231258)	Kruger A.... Oscier D.G.	1993
43	The T/E1A-binding domain of the retinoblastoma product can interact selectively with a sequence-specific DNA-binding protein. (1828394)	Chittenden T.... Kaelin W.G.	1991
44	An immunohistopathologic study of trilateral retinoblastoma. (3591877)	Rodrigues M.M.... Brownstein S.	1987
45	Concurrent pineoblastoma and unilateral retinoblastoma: a forme fruste of trilateral retinoblastoma? (4047365)	Whittle I.R.... Johnston I.H.	1985
46	Case of the month No. 69. Bilateral retinoblastoma. (6703911)	Prian B.A.... Hessel S.J.	1984
47	Trilateral retinoblastoma. Report of two cases. (6696673)	Brownstein S.... Little J.M.	1984
48	The management of unilateral retinoblastoma without primary enucleation. (7103808)	Abramson D.H.... Kitchin F.D.	1982
49	Trilateral retinoblastoma. (6106753)	Bader J.L.... VoA>te P.A.	1980
50	Familial retinoblastoma--a cautionary tale. (1018213)	Howe J.W.... Manson N.	1976

Genes related to Retinoblastoma

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁶²UniProtKB/Swiss-Prot, ²⁰GeneTests
See all sources

Genes related to Retinoblastoma:

(show top 50) (show all 697)

id	Symbol	Description	Score	Implication
1	RB1	retinoblastoma 1	20.02	Molecular basis known ⁴⁶ Causative variation ⁶² Genetic Tests ²⁰ GeneCards inferred : Publications, Orthologs, Proteins, Domains & Families, Databases, Disorders, Gene name, Functions, Pathways & Interactions, Summaries (show sections)
2	PRDM2	PR domain containing 2, with ZNF domain	19.99	GeneCards inferred : Summaries, Expressions, Publications, Disorders, Gene name, Functions, Proteins, Orthologs (show sections)
3	RBBP8	retinoblastoma binding protein 8	19.96	GeneCards inferred : Orthologs, Proteins, Domains & Families, Publications, Disorders, Gene name, Functions, Summaries (show sections)
4	KDM5A	lysine (K)-specific demethylase 5A	19.93	GeneCards inferred : Publications, Disorders, Gene name, Orthologs, Summaries (show sections)
5	RBBP7	retinoblastoma binding protein 7	19.90	GeneCards inferred : Proteins, Orthologs, Domains & Families, Publications, Disorders, Gene name, Summaries (show sections)
6	RBBP4	retinoblastoma binding protein 4	19.87	GeneCards inferred : Proteins, Orthologs, Domains & Families, Publications, Disorders, Gene name, Pathways & Interactions, Summaries (show sections)
7	RBBP5	retinoblastoma binding protein 5	19.85	GeneCards inferred : Orthologs, Summaries, Proteins, Domains & Families, Publications, Disorders, Gene name (show sections)
8	RBBP9	retinoblastoma binding protein 9	19.82	GeneCards inferred : Orthologs, Proteins, Domains & Families, Publications, Disorders, Gene name, Functions, Summaries (show sections)
9	RBBP6	retinoblastoma binding protein 6	19.79	GeneCards inferred : Orthologs, Proteins, Domains & Families, Publications, Disorders, Gene name, Summaries (show sections)
10	RBL1	retinoblastoma-like 1 (p107)	19.76	GeneCards inferred : Orthologs, Proteins, Domains & Families, Databases, Publications, Disorders, Gene name, Functions, Summaries (show sections)
11	E2F1	E2F transcription factor 1	19.73	GeneCards inferred : Publications, Disorders, Gene name, Proteins, Summaries (show sections)
12	UBR4	ubiquitin protein ligase E3 component n-recognin 4	19.70	GeneCards inferred : Publications, Disorders, Gene name, Summaries (show sections)
13	ARID4A	AT rich interactive domain 4A (RBP1-like)	19.67	GeneCards inferred : Proteins, Publications, Disorders, Gene name, Functions, Orthologs, Summaries (show sections)
14	ARID4B	AT rich interactive domain 4B (RBP1-like)	19.64	GeneCards inferred : Publications, Disorders, Gene name, Summaries (show sections)
15	DDX1	DEAD (Asp-Glu-Ala-Asp) box helicase 1	19.62	GeneCards inferred : Expressions, Publications, Disorders, Gene name, Functions, Summaries (show sections)
16	RBL2	retinoblastoma-like 2 (p130)	19.59	GeneCards inferred : Orthologs, Proteins, Domains & Families, Databases, Publications, Disorders, Gene name, Functions (show sections)
17	RNF40	ring finger protein 40, E3 ubiquitin protein ligase	19.56	GeneCards inferred : Publications, Disorders, Gene name, Orthologs (show sections)
18	KDM5B	lysine (K)-specific demethylase 5B	19.53	GeneCards inferred : Publications, Disorders, Gene name (show sections)
19	FAM208A	family with sequence similarity 208, member A	19.50	GeneCards inferred : Disorders, Gene name (show sections)
20	NDC80	NDC80 kinetochore complex component	19.47	GeneCards inferred : Publications, Disorders, Gene name (show sections)
21	ESD	esterase D	19.44	GeneCards inferred : Publications, Disorders, Summaries (show sections)
22	CDK4	cyclin-dependent kinase 4	19.41	GeneCards inferred : Publications, Disorders, Functions, Summaries (show sections)
23	RBP3	retinol binding protein 3, interstitial	19.38	GeneCards inferred : Publications, Disorders, Summaries (show sections)
24	E2F3	E2F transcription factor 3	19.36	GeneCards inferred : Publications, Disorders, Proteins, Summaries (show sections)
25	SERPINF1	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	19.33	GeneCards inferred : Publications, Disorders, Functions, Summaries (show sections)
26	HDAC1	histone deacetylase 1	19.30	GeneCards inferred : Publications, Disorders, Pathways & Interactions, Summaries (show sections)
27	RB1CC1	RB1-inducible coiled-coil 1	19.27	GeneCards inferred : Disorders, Summaries (show sections)
28	RBAK	RB-associated KRAB zinc finger	19.24	GeneCards inferred : Publications, Disorders, Summaries (show sections)
29	E2F2	E2F transcription factor 2	19.21	GeneCards inferred : Publications, Disorders, Proteins, Summaries (show sections)
30	LPAR6	lysophosphatidic acid receptor 6	19.18	GeneCards inferred : Publications, Disorders, Proteins, Summaries (show sections)
31	CDK3	cyclin-dependent kinase 3	19.15	GeneCards inferred : Publications, Disorders, Summaries (show sections)
32	CDCA4	cell division cycle associated 4	19.13	GeneCards inferred : Disorders, Summaries (show sections)
33	MRFAP1	Morf4 family associated protein 1	19.10	GeneCards inferred : Publications, Disorders, Summaries (show sections)
34	ARID3B	AT rich interactive domain 3B (BRIGHT-like)	19.07	GeneCards inferred : Publications, Disorders, Summaries (show sections)
35	IFI16	interferon, gamma-inducible protein 16	19.04	GeneCards inferred : Publications, Disorders, Functions, Summaries (show sections)
36	UHRF1	ubiquitin-like with PHD and ring finger domains 1	19.01	GeneCards inferred : Publications, Disorders, Summaries (show sections)
37	GTF2IRD1	GTF2I repeat domain containing 1	18.98	GeneCards inferred : Publications, Disorders, Proteins, Summaries (show sections)
38	LIN9	lin-9 homolog (C. elegans)	18.95	GeneCards inferred : Disorders, Summaries (show sections)
39	RBBP8P1	retinoblastoma binding protein 8 pseudogene 1	18.92	GeneCards inferred : Disorders, Gene name (show sections)
40	RBBP8P2	retinoblastoma binding protein 8 pseudogene 2	18.90	GeneCards inferred : Disorders, Gene name (show sections)
41	RBSG2	retinoblastoma-specific gene 2	18.87	GeneCards inferred : Domains & Families, Disorders, Gene name, Proteins (show sections)
42	RBBP6P1	retinoblastoma binding protein 6 pseudogene 1	18.84	GeneCards inferred : Disorders, Gene name (show sections)
43	RBBP4P6	retinoblastoma binding protein 4 pseudogene 6	18.81	GeneCards inferred : Disorders, Gene name (show sections)
44	LOC391556	retinoblastoma binding protein 4 pseudogene	18.78	GeneCards inferred : Disorders, Gene name (show sections)
45	RBBP4P1	retinoblastoma binding protein 4 pseudogene 1	18.75	GeneCards inferred : Disorders, Gene name (show sections)
46	RBBP4P2	retinoblastoma binding protein 4 pseudogene 2	18.72	GeneCards inferred : Gene name, Disorders (show sections)
47	RBBP4P3	retinoblastoma binding protein 4 pseudogene 3	18.69	GeneCards inferred : Disorders, Gene name (show sections)
48	RBBP4P4	retinoblastoma binding protein 4 pseudogene 4	18.67	GeneCards inferred : Disorders, Gene name (show sections)
49	EID1	EP300 interacting inhibitor of differentiation 1	18.64	GeneCards inferred : Publications, Disorders, Gene name (show sections)
50	ROBO3	roundabout, axon guidance receptor, homolog 3 (Drosophila)	18.61	GeneCards inferred : Disorders, Gene name (show sections)

Products for genes related to Retinoblastoma disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	37	37	40
2	LSBio	-	-	50

Genetic Variations for Retinoblastoma

Sources:
⁶²UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Retinoblastoma:

⁶² (show all 22)

id	Symbol	AA change	Variation ID
1	RB1	p.Glu72Gln	VAR_005572
2	RB1	p.Glu137Asp	VAR_005573
3	RB1	p.Ile185Thr	VAR_005574
4	RB1	p.Arg358Gln	VAR_005575
5	RB1	p.Met457Arg	VAR_005576
6	RB1	p.His549Tyr	VAR_005578
7	RB1	p.Ser567Leu	VAR_005579
8	RB1	p.Ala635Pro	VAR_005580
9	RB1	p.Val654Glu	VAR_005581
10	RB1	p.Arg661Trp	VAR_005582
11	RB1	p.Leu662Pro	VAR_005583
12	RB1	p.His673Pro	VAR_005584
13	RB1	p.Gln685Pro	VAR_005585
14	RB1	p.Cys706Tyr	VAR_005586
15	RB1	p.Cys712Arg	VAR_005587
16	RB1	p.Asn803Lys	VAR_005588
17	RB1	p.Arg358Gly	VAR_010046
18	RB1	p.Lys447Gln	VAR_010048
19	RB1	p.Lys530Arg	VAR_010049
20	RB1	p.Leu657Pro	VAR_010050
21	RB1	p.Arg500Gly	VAR_011580
22	RB1	p.Lys616Glu	VAR_011581

Expression for genes affiliated with Retinoblastoma

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

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

Sources:
⁵³Reactome, ³⁷NCBI BioSystems Database, ⁴Cell Signaling Technology, ⁵¹QIAGEN, ¹²EMD Millipore, ²⁹KEGG
See all sources

Pathways related to Retinoblastoma according to GeneCards/GeneDecks:

(show all 22)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Cell Cycle⁵³ Hide members Cell Cycle, Mitotic⁵³	11.5	E2F1, NDC80, RB1, RBL2, RBBP7, RBBP4
2	E2F transcription factor network³⁷	11.4	RBL1, RBBP4, E2F1, RB1, RBBP8, RBL2
3	Chromatin Regulation / Acetylation⁴	11.4	RNF40, KDM5B, KDM5A, RBBP4, RBBP7, RBBP5
4	DNA Methylation and Transcriptional Repression⁵¹ Hide members Macrophage Differentiation and Growth Inhibition by METS⁵¹	11.2	RBL1, RBBP4, RBBP7, RBL2, RB1
5	Mitotic G1-G1/S phases⁵³ Hide members G1 to S cell cycle control³⁷ G1/S Transition⁵³	11.2	E2F1, RB1, RBL2, RBBP4, RBL1
6	Cell cycle Cell cycle (generic schema) Hide members Cell cycle Regulation of G1/S transition (part 2)¹² G0 and Early G1⁵³ Cell cycle Cell cycle (generic schema)¹² Cell cycle ESR1 regulation of G1/S transition¹² Cell cycle Role of SCF complex in cell cycle regulation¹²	11.2	RBL2, RB1, RBL1, E2F1, RBBP4
7	Transcription P53 signaling pathway Hide members Transcription P53 signaling pathway¹²	11.1	E2F1, RB1, RBBP7, RBBP4
8	DNA Damage⁴ Hide members Cell Cycle / Checkpoint Control⁴	11.1	E2F1, RB1, RBBP8, RNF40
9	Development NOTCH1-mediated pathway for NF-KB activity modulation¹² Hide members Development Notch Signaling Pathway¹² Transcription Sin3 and NuRD in transcription regulation¹²	11.1	RBBP4, RBBP7, ARID4A, ARID4B
10	Cell cycle²⁹ Hide members Cell cycle³⁷	11.1	RB1, RBL2, RBL1, E2F1
11	Cyclins and Cell Cycle Regulation⁵¹ Hide members G1 Phase⁵³ Cyclin D associated events in G1⁵³ Cell Cycle Control by BTG Proteins⁵¹ G1-S Phase Transition⁵¹	11.1	RBL1, RBL2, E2F1, RB1
12	Adipogenesis³⁷	11.1	RB1, E2F1, RBL2, RBL1
13	Viral carcinogenesis²⁹	11.1	RBL2, RB1, UBR4, RBL1
14	Meiotic Synapsis⁵³ Hide members Chromosome Maintenance⁵³ Meiotic Recombination⁵³ Meiosis⁵³	10.9	RBBP8, RBBP7, RBBP4
15	Notch-mediated HES/HEY network³⁷	10.9	E2F1, RB1, RBBP8
16	BRCA1 Pathway⁵¹	10.9	E2F1, RBBP8, RB1
17	Regulation of nuclear SMAD2/3 signaling³⁷	10.9	RBL1, RBBP7, RBBP4
18	Regulation of Telomerase³⁷	10.9	RBBP7, E2F1, RBBP4
19	Id Signaling Pathway³⁷	10.9	RB1, RBL2, RBL1
20	TSH signaling pathway³⁷	10.9	RBL2, RB1, E2F1
21	MNAR-PELP1 and Estrogen Receptor Interaction⁵¹	10.8	E2F1, RB1
22	Inhibition of Ribosome Biogenesis by p14(ARF)⁵¹	10.8	RB1, E2F1

Compounds for genes affiliated with Retinoblastoma

Sources:
⁴⁴Novoseek, ¹¹DrugBank, ⁴⁹PharmGKB, ⁵⁹Tocris Bioscience, ²⁸IUPHAR
See all sources

Compounds related to Retinoblastoma according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	polypropylene glycol⁴⁴	11.1	RB1, RBL1, RBL2
2	hpvs⁴⁴	11.1	RBL1, RBL2, RB1
3	dihydrofolate⁴⁴	11.0	RB1, RBL1, E2F1
4	flavopiridol⁴⁴ ¹¹	12.0	E2F1, RB1, RBL1
5	tgf beta1⁴⁴	10.9	E2F1, RBL2, RBL1
6	lactacystin⁴⁴	10.8	E2F1, RBL2, RBL1
7	butyrolactone i⁴⁴	10.8	RB1, E2F1
8	lovastatin⁴⁴ ⁴⁹ ⁵⁹ ²⁸ ¹¹	14.6	RBL1, RB1, E2F1

GO Terms for genes affiliated with Retinoblastoma

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to Retinoblastoma according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:005634	13.0	KDM5B, NDC80, UBR4, E2F1, ARID4A, ARID4B
2	nucleoplasm	GO:005654	11.3	RBBP4, RBL1, RBBP7, E2F1, RB1, RBL2
3	Rb-E2F complex	GO:035189	10.8	RB1, E2F1
4	NuRD complex	GO:016581	10.8	RBBP4, RBBP7
5	ESC/E(Z) complex	GO:035098	10.5	RBBP4, RBBP7

Biological processes related to Retinoblastoma according to GeneCards/GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription, DNA-dependent	GO:006351	12.4	KDM5B, RBBP4, RBBP7, RBL2, RB1, RBBP5
2	regulation of transcription, DNA-dependent	GO:006355	11.6	RBBP4, PRDM2, DDX1, ARID4B, RBL2, RBBP5
3	mitotic cell cycle	GO:000278	11.6	RBL1, RBBP4, RBL2, RB1, E2F1, NDC80
4	regulation of lipid kinase activity	GO:043550	11.2	RBL1, RBL2, RB1
5	histone H3-K9 trimethylation	GO:036124	11.0	ARID4B, ARID4A
6	chromatin modification	GO:016568	10.9	RBL1, KDM5A, RBL2
7	negative regulation of transcription involved in G1/S transition of mitotic cell cycle	GO:071930	10.9	RB1, E2F1
8	histone H4-K20 trimethylation	GO:034773	10.9	ARID4A, ARID4B
9	CENP-A containing nucleosome assembly at centromere	GO:034080	10.8	RBBP7, RBBP4
10	cell cycle checkpoint	GO:000075	10.7	RB1, RBBP8
11	regulation of gene expression by genetic imprinting	GO:006349	10.5	ARID4A, ARID4B

Molecular functions related to Retinoblastoma according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	12.8	RBBP4, RNF40, DDX1, RBL1, RBBP7, RBL2
2	DNA binding	GO:003677	11.8	KDM5B, DDX1, KDM5A, PRDM2, RBL2, RB1
3	zinc ion binding	GO:008270	11.4	RNF40, PRDM2, RBBP6, UBR4, KDM5B, KDM5A
4	sequence-specific DNA binding transcription factor activity	GO:003700	11.3	E2F1, KDM5B, KDM5A, PRDM2, RB1, ARID4A
5	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one don	GO:016706	10.5	KDM5B, KDM5A