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

MCID: RTN024 MIFTS: 76	Retinoblastoma Categories: Genetic diseases, Rare diseases, Cancer diseases, Neuronal diseases, Eye diseases
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Aliases & Classifications for Retinoblastoma

MalaCards integrated aliases for Retinoblastoma:

Name: Retinoblastoma ⁵³ ¹² ⁷² ²³ ⁴⁹ ²⁴ ⁵⁵ ³⁶ ²⁸ ¹³ ⁵¹ ¹⁴ ⁶⁹

Rb ⁵³ ¹² ⁴⁹ ²⁴ ⁷¹

Trilateral Retinoblastoma ¹² ¹⁴ ⁶⁹

Retinoblastoma, Trilateral ⁵³ ²⁸

Childhood Cancer Retinoblastoma ⁷¹

Malignant Neoplasm of Retina ⁶⁹

Eye Cancer, Retinoblastoma ⁴⁹

Neuroblastoma of Retina ¹²

Rb - Retinoblastoma ¹²

Retinal Neoplasms ⁶⁹

Glioma, Retinal ²⁴

Retinal Cancer ⁴⁹

Retinal Tumor ⁴⁹

Rb1 ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁵

retinoblastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Europe),1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy; Age of death: any age;

OMIM:

⁵³

Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
incidence 1 in 15,000-28,000 births
approximately 40% of cases are inherited or new germline mutations
approximately 60% of cases are due to somatic mutations and are unilateral

HPO:

³¹

retinoblastoma:
Inheritance somatic mutation autosomal dominant inheritance sporadic

GeneReviews:

²³

Penetrance See genotype-phenotype correlations...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Neoplasms

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

Malignant neoplasm of eye and adnexa

Malignant neoplasm: Retina

Orphanet: ⁵⁵

Rare eye diseases

External Ids:

OMIM ⁵³ 180200

Disease Ontology ¹² DOID:4647 DOID:768

MeSH ⁴¹ D012175

NCIt ⁴⁶ C6956 C7541

SNOMED-CT ⁶⁴ 134191003 154553002 189934006 more

Orphanet ⁵⁵ ORPHA790

MESH via Orphanet ⁴² D012175

UMLS via Orphanet ⁷⁰ C0035335

ICD10 via Orphanet ³³ C69.2

MedGen ³⁹ C0035335 C1867262

KEGG ³⁶ H01513

UMLS ⁶⁹ C0035335 C2608045

Sources

Summaries for Retinoblastoma

NIH Rare Diseases : ⁴⁹ 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 based summary : Retinoblastoma, also known as rb, is related to unilateral retinoblastoma and bilateral retinoblastoma, and has symptoms including cleft palate, lymphoma and osteosarcoma. An important gene associated with Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways/superpathways are Cell cycle and ERK Signaling. The drugs Ibrance and Tasigna have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and lung, and related phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and growth/size/body region

OMIM : ⁵³ Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000). (180200)

UniProtKB/Swiss-Prot : ⁷¹ Childhood cancer retinoblastoma: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated.

Genetics Home Reference : ²⁴ 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.

Disease Ontology : ¹² A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives from the tissues of the retina.

Wikipedia : ⁷² Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina,... more...

GeneReviews: NBK1452

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Related Diseases for Retinoblastoma

Diseases in the Retinoblastoma family:

Familial Retinoblastoma

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

(show top 50) (show all 275)

#	Related Disease	Score	Top Affiliating Genes
1	unilateral retinoblastoma	34.2	RB1 RBL1
2	bilateral retinoblastoma	33.7	RB1 RBL1
3	ocular cancer	30.4	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
4	glioblastoma	30.3	CCND1 CDK4 MDM2 RB1
5	bladder cancer	30.1	CCND1 CDK4 E2F1 E2F3 MDM2 RB1
6	spindle cell lipoma	30.0	CDK4 MDM2 RB1
7	hepatocellular carcinoma	29.9	CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
8	liposarcoma	29.9	CDK4 MDM2 RB1
9	osteogenic sarcoma	29.8	CDK4 MDM2 RB1 RBL2
10	myeloma, multiple	29.7	CCND1 CCND3 CDK4
11	mantle cell lymphoma	29.3	CCND1 CCND3 CDK4 MDM2
12	retinal cancer	27.6	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
13	intraocular retinoblastoma	12.3
14	extraocular retinoblastoma	12.3
15	familial retinoblastoma	12.2
16	pediatric intraocular retinoblastoma	12.1
17	pediatric extraocular retinoblastoma	12.1
18	non-hereditary retinoblastoma	12.0
19	imprinting gene related to retinoblastoma	11.8
20	roberts syndrome	11.7
21	respiratory bronchiolitis-interstitial lung disease syndrome	11.2
22	chromosome 13q14 deletion syndrome	11.2
23	blastoma	11.2
24	sc phocomelia syndrome	10.9
25	norrie disease	10.9
26	autism 3	10.9
27	retinal disease	10.9
28	ring chromosome 7	10.6	CDK4 MDM2
29	undifferentiated embryonal sarcoma of the liver	10.5	CDK4 MDM2
30	periosteal chondrosarcoma	10.5	CDK4 MDM2 RB1
31	infiltrating angiolipoma	10.5	CDK4 MDM2
32	ischemic fasciitis	10.5	CCND1 CDK4 MDM2
33	extraosseous osteosarcoma	10.5	CDK4 MDM2
34	inflammatory mfh	10.4	CDK4 MDM2
35	diffuse large b-cell lymphoma	10.4	CCND1 CDK4 MDM2
36	bone osteosarcoma	10.4	CDK4 MDM2
37	lipoblastoma	10.3	CDK4 MDM2
38	retinitis	10.2
39	gliosarcoma	10.2	CCND3 CDK4 RB1
40	neuronitis	10.2
41	prostatitis	10.2
42	lung cancer	10.2
43	squamous cell carcinoma	10.2
44	melanoma	10.2
45	aging	10.1
46	leukemia	10.1
47	sarcoma	10.1
48	lymphoma	10.1
49	glioblastoma multiforme	10.1	CCND1 CDK4 E2F1 E2F4 MDM2 RB1
50	breast cancer	10.1

Graphical network of the top 20 diseases related to Retinoblastoma:

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Symptoms & Phenotypes for Retinoblastoma

Symptoms via clinical synopsis from OMIM:

⁵³

Neoplasia:
lymphoma
leukemia
osteogenic sarcoma
pinealoma (trilateral retinoblastoma)
ewing sarcoma

Head And Neck Mouth:
cleft palate (rare)

Head And Neck Eyes:
leukocoria
retinal calcification
retinoblastoma (25% bilateral, 15% unilateral)
retinomas (translucent, grayish retinal mass protruding into the vitreous)
retinal pigment epithelial migration and proliferation
more

Clinical features from OMIM:

180200

Human phenotypes related to Retinoblastoma:

⁵⁵ ³¹ (show all 11)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	retinoblastoma ⁵⁵ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009919
2	cleft palate ³¹			HP:0000175
3	lymphoma ³¹			HP:0002665
4	osteosarcoma ³¹			HP:0002669
5	leukocoria ³¹			HP:0000555
6	leukemia ³¹			HP:0001909
7	pinealoma ³¹			HP:0010799
8	vitritis ³¹	occasional (7.5%)		HP:0011531
9	vitreous hemorrhage ³¹			HP:0007902
10	retinal calcification ³¹			HP:0007862
11	ewing's sarcoma ³¹			HP:0012254

GenomeRNAi Phenotypes related to Retinoblastoma according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)	GR00104-A-0	8.92	CCND1 E2F3 RBBP4 RBL1

MGI Mouse Phenotypes related to Retinoblastoma:

⁴³ (show all 18)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.36	RBL1 RB1 MDM2 RBBP7 TFDP1 RBL2
2	cellular	MP:0005384	10.35	RBL1 RB1 MDM2 RBBP8 RBL2 CDK4
3	mortality/aging	MP:0010768	10.34	RB1 RBBP8 PRDM2 RBL1 TFDP1 RBL2
4	cardiovascular system	MP:0005385	10.32	RBL1 RB1 MDM2 RBL2 CDK4 CCND1
5	endocrine/exocrine gland	MP:0005379	10.3	RB1 RBL1 RBL2 CCND1 CCND3 ARID4A
6	embryo	MP:0005380	10.28	RBL1 RB1 MDM2 RBBP7 RBBP8 TFDP1
7	immune system	MP:0005387	10.27	RBL1 RB1 MDM2 RBBP8 CDK4 CCND1
8	integument	MP:0010771	10.22	RBL1 RB1 MDM2 RBL2 CCND1 ARID4A
9	neoplasm	MP:0002006	10.22	RBBP8 PRDM2 RBL1 RB1 TFDP1 RBL2
10	digestive/alimentary	MP:0005381	10.15	RB1 MDM2 RBL1 CDK4 CCND1 E2F4
11	normal	MP:0002873	10.11	RBL1 RB1 MDM2 RBL2 CCND1 CCND3
12	craniofacial	MP:0005382	10.1	RB1 RBBP7 MDM2 RBL2 RBL1 CCND1
13	liver/biliary system	MP:0005370	10	RB1 MDM2 RBL1 CDK4 CCND3 ARID4A
14	reproductive system	MP:0005389	9.96	RBL1 RB1 MDM2 RBL2 CDK4 CCND1
15	renal/urinary system	MP:0005367	9.87	RB1 MDM2 RBL2 RBL1 CDK4 ARID4A
16	respiratory system	MP:0005388	9.85	RBL1 RB1 RBL2 CCND1 CCND3 ARID4A
17	skeleton	MP:0005390	9.65	RBL1 RB1 RBBP7 MDM2 RBL2 CCND1
18	vision/eye	MP:0005391	9.28	RBL1 RB1 RBL2 CDK4 CCND1 CCND3

Sources

Drugs & Therapeutics for Retinoblastoma

FDA approved drugs:

#	Drug Name	Active Ingredient(s) ¹⁷	Company	Approval Date
1	Ibrance ¹⁷ ⁴⁵	PALBOCICLIB	Pfizer	February 2015
FDA Label: Ibrance Disease/s that Drug Treats:ER-positive, HER2-negative breast cancer Indications and Usage: ¹⁷ IBRANCE is a kinase inhibitor indicated in combination with letrozole for thetreatment of postmenopausal women with estrogen receptor (ER)-positive,human epidermal growth factor receptor 2 (HER2)-negative advanced breastcancer as initial endocrine-based therapy for their metastatic disease. Thisindication is approved under accelerated approval based on progression-freesurvival (PFS). Continued approval for this indication may be contingentupon verification and description of clinical benefit in a confirmatory trial. (1) DrugBank Targets: ¹⁵ 1. Cyclin-dependent kinase 4;2. Cyclin-dependent kinase 6 Mechanism of Action: ¹⁷ Target: cyclin-dependent kinase (CDK) 4 and 6 Action: inhibitor FDA: Palbociclib is an inhibitor of cyclin-dependent kinase (CDK) 4 and 6. Cyclin D1 and CDK4/6 aredownstream of signaling pathways which lead to cellular proliferation. In vitro, palbociclib reducedcellular proliferation of estrogen receptor (ER)-positive breast cancer cell lines by blocking progressionof the cell from G1 into S phase of the cell cycle. Treatment of breast cancer cell lines with thecombination of palbociclib and antiestrogens leads to decreased retinoblastoma protein (Rb)phosphorylation resulting in reduced E2F expression and signaling and increased growth arrestcompared to treatment with each drug alone. In vitro treatment of ER-positive breast cancer cell lineswith the combination of palbociclib and antiestrogens leads to increased cell senescence, which wassustained for up to 6 days following drug removal. In vivo studies using a patient-derived ER-positivebreast cancer xenograft model demonstrated that the combination of palbociclib and letrozole increasedthe inhibition of Rb phosphorylation, downstream signaling and tumor growth compared to each drugalone.
2	Tasigna ¹⁷ ⁴⁵	NILOTINIB HYDROCHLORIDE MONOHYDRATE	Novartis	October 2007
FDA Label: Tasigna Disease/s that Drug Treats:chronic myelogenous leukemia Indications and Usage: ¹⁷ Tasigna is a kinase inhibitor indicated for:The treatment of newly diagnosed adult patients with Philadelphiachromosome positive chronic myeloid leukemia (Ph+ CML) in chronic phase.The treatment of chronic phase (CP) and accelerated phase (AP) Ph+ CML inadult patients resistant to or intolerant to prior therapy that included imatinib.(1.2)-------------- DrugBank Targets: ¹⁵ 1. Tyrosine-protein kinase ABL1;2. Mast/stem cell growth factor receptor Kit Mechanism of Action: ¹⁷ Target: Bcr-Abl kinase, c-kit and Platelet Derived Growth Factor (PDGF) Action: inhibitor of signal transduction FDA: Nilotinib is an inhibitor of the BCR-ABL kinase. Nilotinib binds to and stabilizes the inactive conformation ofthe kinase domain of ABL protein. In vitro, nilotinib inhibited BCR-ABL mediated proliferation of murineleukemic cell lines and human cell lines derived from patients with Ph+ CML. Under the conditions of theassays, nilotinib was able to overcome imatinib resistance resulting from BCR-ABL kinase mutations, in 32 outof 33 mutations tested. In vivo, nilotinib reduced the tumor size in a murine BCR-ABL xenograft model.Nilotinib inhibited the autophosphorylation of the following kinases at IC50 values as indicated: BCR-ABL (20to 60 nM), PDGFR (69 nM), c-KIT (210 nM), CSF-1R (125 to 250 nM), and DDR1 (3.7 nM).
3	Kalydeco ¹⁷	IVACAFTOR	Vertex Pharmaceuticals	January of 2012
FDA Label: Kalydeco Disease/s that Drug Treats:cystic fibrosis with the G551D mutation in the CFTR gene Indications and Usage: ¹⁷ KALYDECO is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator indicated for the treatment of cystic fibrosis (CF) in patients age 6 years and older who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, or S549R. KALYDECO is indicated for the treatment of CF in patients age 6 years and older who have an R117H mutation in the CFTR gene. If the patientâs genotype is unknown, an FDA-cleared CF mutation test should be used to detect the presence of a CFTR mutation followed by verification with bi-directional sequencing when recommended by the mutation test instructions for use. (1) Limitations of Use: * Not effective in patients with CF who are homozygous for the F508del mutation in the CFTR gene. (1, 14) DrugBank Targets: ¹⁵ Cystic fibrosis transmembrane conductance regulator Mechanism of Action: ¹⁷ Target: cystic fibrosis transmembrane conductance regulator (CFTR) Action: potentiator FDA: Ivacaftor is a potentiator of the CFTR protein. The CFTR protein is a chloride channel present at the surface of epithelial cells in multiple organs. Ivacaftor facilitates increased chloride transport by potentiating the channel-open probability (or gating) of the CFTR protein. In vitro, ivacaftor increased CFTR-mediated transepithelial current (IT) in rodent cells expressing the G551D-CFTR protein following addition of a cyclic adenosine monophosphate (cAMP) agonist with an EC50 of 100 Â± 47 nM; however, ivacaftor did not increase IT in the absence of cAMP agonist. Ivacaftor also increased IT in human bronchial epithelial cells expressing G551D-CFTR protein following addition of a cAMP agonist by 10-fold with an EC50 of 236 Â± 200 nM. Ivacaftor increased the open probability of G551D-CFTR protein in single channel patch clamp experiments using membrane patches from rodent cells expressing G551D-CFTR protein by 6-fold versus untreated cells after addition of PKA and ATP. In addition to G551D-CFTR, ivacaftor increased the channel-open probability of other mutant CFTR forms expressed in rodent cells, resulting in enhanced CFTR-mediated IT. These mutant CFTR forms included G178R-, S549N-, S549R-, G551S-, G970R-, G1244E-, S1251N-, S1255P-, and G1349D-CFTR. Ivacaftor also potentiated the channel-open probability of R117H-CFTR, which has low channel-open probability (gating) and reduced channel current amplitude (conductance) compared to normal CFTR. In vitro responses do not necessarily correspond to in vivo pharmacodynamic response or clinical benefit.

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

(show top 50) (show all 152)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Carboplatin

Approved

Phase 4,Phase 3,Phase 2,Phase 1

41575-94-4

10339178 38904 498142

Etoposide

Approved

Phase 4,Phase 3,Phase 2,Phase 1

33419-42-0

36462

Vincristine

Approved, Investigational

Phase 4,Phase 3,Phase 2

2068-78-2, 57-22-7

5978

Itraconazole

Approved, Investigational

Phase 4

84625-61-6

55283

Miconazole

Approved, Investigational, Vet_approved

Phase 4,Phase 2,Phase 1

22916-47-8

4189

Curcumin

Approved, Investigational

Phase 4

458-37-7

969516

Lenograstim

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

135968-09-1

Nicotine

Approved

Phase 4

54-11-5

89594 942

Ginseng

Approved, Investigational, Nutraceutical

Phase 4,Phase 2

50647-08-0

Allantoin

Approved, Nutraceutical

Phase 4

97-59-6

204

Antimitotic Agents

Phase 4,Phase 3,Phase 2,Phase 1

Antineoplastic Agents, Phytogenic

Phase 4,Phase 3,Phase 2,Phase 1

Etoposide phosphate

Phase 4,Phase 3,Phase 2,Phase 1

Topoisomerase Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1

Anti-Infective Agents

Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1

Antifungal Agents

Phase 4,Phase 2,Phase 1

Cytochrome P-450 CYP3A Inhibitors

Phase 4

Cytochrome P-450 Enzyme Inhibitors

Phase 4

Hormone Antagonists

Phase 4,Phase 2,Phase 1

Hormones

Phase 4,Phase 2,Phase 1

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 2,Phase 1

Hydroxyitraconazole

Phase 4

Steroid Synthesis Inhibitors

Phase 4,Phase 1,Phase 2

Bone Density Conservation Agents

Phase 4,Phase 2

Diphosphonates

Phase 4

Ibandronic acid

Phase 4

Liver Extracts

Phase 4,Phase 2,Phase 1

Adjuvants, Immunologic

Phase 4,Phase 3,Phase 2,Phase 1

Iodine

Approved, Investigational

Phase 3,Phase 2,Phase 1

7553-56-2

807

Cisplatin

Approved

Phase 3,Phase 2

15663-27-1

2767 441203 84093

Cyclophosphamide

Approved, Investigational

Phase 3,Phase 2,Phase 1,Early Phase 1

50-18-0, 6055-19-2

2907

Thiotepa

Approved, Investigational

Phase 3,Phase 2,Phase 1

52-24-4

5453

Doxorubicin

Approved, Investigational

Phase 3,Phase 2

23214-92-8

31703

Mesna

Approved, Investigational

Phase 3,Phase 2,Phase 1

3375-50-6

598

Topotecan

Approved, Investigational

Phase 3,Phase 1,Phase 2

119413-54-6, 123948-87-8

60700

Doxil

Approved June 1999

Phase 3,Phase 2

31703

Immunosuppressive Agents

Phase 3,Phase 2,Phase 1,Early Phase 1

Anti-Infective Agents, Local

Phase 3,Phase 2

cadexomer iodine

Phase 3,Phase 2,Phase 1

Micronutrients

Phase 3,Phase 2

Trace Elements

Phase 3,Phase 2

Alkylating Agents

Phase 3,Phase 2,Phase 1,Early Phase 1

Antirheumatic Agents

Phase 3,Phase 2,Phase 1,Early Phase 1

Anesthetics

Phase 3,Phase 2,Early Phase 1

Anti-Bacterial Agents

Phase 3,Phase 2,Phase 1,Early Phase 1

Antibiotics, Antitubercular

Phase 3,Phase 2,Phase 1

topoisomerase I inhibitors

Phase 3,Phase 2,Phase 1

Ranibizumab

Approved

Phase 2,Phase 1

347396-82-1

459903

Melphalan

Approved

Phase 1, Phase 2

148-82-3

460612 4053

Palbociclib

Approved, Investigational

Phase 2,Phase 1

571190-30-2

5330286 11431660 5005498

Interventional clinical trials:

(show top 50) (show all 123)

#	Name	Status	NCT ID	Phase	Drugs
1	CEV With/Without Periocular Carboplatin Chemotherapy for Extraocular Retinoblastoma	Completed	NCT02319486	Phase 4	carboplatin periocular injection;CEV chemotherapy
2	Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation	Completed	NCT00336531	Phase 4	itraconazole
3	Prospective Study of Profile of Hepatic Osteodystrophy in Patients With Non-Choleastatic Liver Cirrhosis and Impact of Bisphosphonate Supplementation	Completed	NCT02249741	Phase 4	Treated with Ibandronic acid as per protocol
4	The Efficacy and Safety of New Herbal Formula (KBMSI-2) in the Treatment of Erectile Dysfunction	Completed	NCT02413099	Phase 4	KBMSI-2
5	Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study	Completed	NCT02204826	Phase 4	Korean Red Ginseng (KRG)
6	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor	Not yet recruiting	NCT02933333	Phase 4
7	Carboplatin Periocular Injection for Retinoblastoma	Unknown status	NCT02137928	Phase 3	carboplatin periocular injection;chemotherapy
8	Does Posterior Reconstruction of the Rhabdosphincter Improve Early Recovery of Continence After Robotic-Assisted Radical Prostatectomy?	Unknown status	NCT01809522	Phase 3
9	Systemic Vincristine, Carboplatin, and Etoposide, Subtenon Carboplatin, and Local Ophthalmic Therapy in Treating Children With Intraocular Retinoblastoma	Completed	NCT00072384	Phase 3	liposomal vincristine sulfate;carboplatin;etoposide
10	Neoadjuvant Carboplatin and Vincristine and Standard Local Ophthalmic Therapy in Treating Patients With Intraocular Retinoblastoma	Completed	NCT00079417	Phase 3	carboplatin;vincristine sulfate
11	Vincristine, Carboplatin, and Etoposide or Observation Only in Treating Patients Who Have Undergone Surgery for Newly Diagnosed Retinoblastoma	Completed	NCT00335738	Phase 3	liposomal vincristine sulfate;carboplatin;etoposide
12	Adjuvant Chemotherapy for High-risk Retinoblastoma After Enucleation	Recruiting	NCT01906814	Phase 3	3 cycles chemotherapy;6 cycles chemotherapy
13	Combination Chemotherapy, Autologous Stem Cell Transplant, and/or Radiation Therapy in Treating Young Patients With Extraocular Retinoblastoma	Active, not recruiting	NCT00554788	Phase 3	cisplatin;cyclophosphamide;etoposide;carboplatin;vincristine sulfate;thiotepa
14	Study of Treatment for Patients With Cancer of the Eye -Retinoblastoma	Active, not recruiting	NCT00186888	Phase 3	Vincristine, Carboplatin;Vincristine + Topotecan;Vincristine + Carboplatin + Etoposide;Vincristine + Cyclophosphamide + Doxorubicin;Vincristine+Carboplatin+Etoposide
15	Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer	Active, not recruiting	NCT01987596	Phase 3
16	Efficacy Study of Lucentis in the Treatment of Retinoblastoma	Unknown status	NCT01899066	Phase 2	Lucentis, chemotherapy;chemotherapy
17	Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma	Unknown status	NCT00179920	Phase 2	Carboplatin;VP-16
18	Efficacy and Safety of Fufangdanshen Tablets in Mild to Moderate Vascular Dementia	Unknown status	NCT01761227	Phase 2	Fufangdanshen Tablets;Placebo
19	Chemotherapy in Treating Patients With Retinoblastoma	Completed	NCT00002675	Phase 2	carboplatin;cisplatin;cyclophosphamide;etoposide;mesna;vincristine sulfate
20	Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma	Completed	NCT00901238	Phase 1, Phase 2
21	Carboplatin Plus Vincristine in Treating Children With Retinoblastoma	Completed	NCT00002794	Phase 2	carboplatin;vincristine sulfate
22	Combination Chemotherapy, Radiation Therapy, and Bone Marrow Transplantation in Treating Patients With Retinoblastoma	Completed	NCT00004006	Phase 2	carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride
23	Cyclin Dependent Kinase (CDK)4/6 Inhibitor, PD0332991 in Advanced Non-small Cell Lung Cancer NSCLC.	Completed	NCT01291017	Phase 2	PD0332991
24	A Trial to Assess the Activity and Safety of Palbociclib in Patients With Well and Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors (pNET)	Completed	NCT02806648	Phase 2	Palbociclib
25	Rebeccamycin Analogue in Treating Children With Solid Tumors or Non-Hodgkin's Lymphoma	Completed	NCT00006102	Phase 2	becatecarin
26	High-Dose Thiotepa Plus Peripheral Stem Cell Transplantation in Treating Patients With Refractory Solid Tumors	Completed	NCT00003173	Phase 2	thiotepa
27	Arsenic Trioxide in Treating Patients With Advanced Neuroblastoma or Other Childhood Solid Tumors	Completed	NCT00024258	Phase 2	arsenic trioxide
28	Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors	Completed	NCT00831844	Phase 2
29	Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer	Completed	NCT00002515	Phase 2	carboplatin;thiotepa;topotecan hydrochloride
30	An Investigational Drug, Palbociclib (PD-0332991), Is Being Studied In Combination With Velcade And Dexamethasone In Patients With Multiple Myeloma. Patients Must Have Received Prior Treatment For Multiple Myeloma.	Completed	NCT00555906	Phase 2	Bortezomib;Dexamethasone;PD 0332991
31	Metformin Hydrochloride in Treating Patients With Prostate Cancer Undergoing Surgery	Completed	NCT01433913	Phase 2	metformin hydrochloride
32	Protocol for the Study and Treatment of Participants With Intraocular Retinoblastoma	Recruiting	NCT01783535	Phase 2	vincristine;topotecan;filgrastim;PEG-filgrastim;carboplatin;etoposide;cyclophosphamide;MESNA;doxorubicin
33	Intra-arterial Chemotherapy for Children With Retinoblastoma	Recruiting	NCT00906113	Phase 1, Phase 2	Intra-arterial injection of melphalan;Injection of melphalan into the ophthalmic artery
34	Adjuvant Treatment in Extensive Unilateral Retinoblastoma Primary Enucleated (RB SFCE 2009)	Recruiting	NCT02870907	Phase 2	Etoposide;Vincristine;Carboplatin;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Carboplatin;Thiotepa;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Thiotepa
35	Conservative Treatments of Retinoblastoma	Recruiting	NCT02866136	Phase 2	VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
36	Abemaciclib for Patients With Retinoblastoma-Positive, Triple Negative Metastatic Breast Cancer	Recruiting	NCT03130439	Phase 2	Abemaciclib
37	Anastrozole, Palbociclib, Trastuzumab and Pertuzumab in Her-positive, Her2-positive Metastatic Breast	Recruiting	NCT03304080	Phase 1, Phase 2	Anastrozole;Palbociclib;Trastuzumab;Pertuzumab
38	Enzalutamide With and Without Ribociclib for Metastatic, Castrate-Resistant, Chemotherapy-Naive Prostate Cancer That Retains RB Expression	Recruiting	NCT02555189	Phase 1, Phase 2	Enzalutamide;Ribociclib
39	Palbociclib With Cetuximab and IMRT for Locally Advanced Squamous Cell Carcinoma	Recruiting	NCT03024489	Phase 1, Phase 2	Palbociclib;Palbociclib;Palbociclib;Palbociclib;Cetuximab
40	Molecular Mechanisms of Resistance and Sensitivity to Palbociclib Re-challenge in ER+ mBC	Recruiting	NCT03184090	Phase 2	Palbociclib;Endocrine therapy (non IMP)
41	The Purpose of This Study is to Test Any Good and Bad Effects of a Study Drug Called Abemaciclib (LY2835219) in Patients With Recurrent Brain Tumors.	Recruiting	NCT03220646	Phase 2	abemaciclib;abemaciclib
42	PErsonalized TREatment of High-risk MAmmary Cancer - the PETREMAC Trial	Recruiting	NCT02624973	Phase 2	Neoadjuvant tamoxifen + goserelin (premenopausal women);Neoadjuvant letrozole (postmenopausal women);Neoadjuvant endocrine therapy + palbociclib (if lack of response to endocrine therapy alone);Neoadjuvant docetaxel + cyclophosphamide;Neoadjuvant docetaxel;Neoadjuvant docetaxel + trastuzumab + pertuzumab;Neoadjuvant docetaxel + cyclophosphamide + trastuzumab + pertuzumab;Neoadjuvant olaparib;Neoadjuvant cyclophosphamide (after 10 weeks of olaparib alone);Adjuvant trastuzumab;Adjuvant letrozole (postmenopausal women);Adjuvant tamoxifen + goserelin (premenopausal women);Adjuvant palbociclib (if palbociclib given neoadjuvant);Adjuvant Epirubicin+ Cyclophosphamide
43	Trial of Topotecan With VX-970, an ATR Kinase Inhibitor, in Small Cell Cancers	Recruiting	NCT02487095	Phase 1, Phase 2	Topotecan;VX-970
44	Combination Chemotherapy and Cyclosporine Followed by Focal Therapy for Bilateral Retinoblastoma	Active, not recruiting	NCT00110110	Phase 2	Carboplatin;Cyclosporine;Etoposide;vincristine sulfate
45	A Phase II Study of Androgen Deprivation Therapy With or Without Palbociclib in RB-Positive Metastatic Prostate Cancer	Active, not recruiting	NCT02059213	Phase 2	Ibrance;Bicalutamide;Zoladex;Lupron Depot
46	A Phase I/II Study of Ribociclib,a CDK4/6 Inhibitor, Following Radiation Therapy	Active, not recruiting	NCT02607124	Phase 1, Phase 2	Ribociclib
47	Efficacy and Safety of PD-0332991 in Patients With Advanced Gastrointestinal Stromal Tumors Refractory to Imatinib and Sunitinib	Active, not recruiting	NCT01907607	Phase 2	PD-0332991 will be administrated orally, formulated as gelatin capsules of 100 mg and 25 mg respectively.
48	Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer	Active, not recruiting	NCT00445965	Phase 2
49	Study Of Letrozole With Or Without Palbociclib (PD-0332991) For The First-Line Treatment Of Hormone-Receptor Positive Advanced Breast Cancer	Active, not recruiting	NCT00721409	Phase 2	PD 0332991;letrozole;letrozole
50	A Study Of Oral Palbociclib (PD-0332991), A CDK4/6 Inhibitor, As Single Agent In Japanese Patients With Advanced Solid Tumors Or In Combination With Letrozole For The First-Line Treatment Of Postmenopausal Japanese Patients With ER (+) HER2 (-) Advanced B	Active, not recruiting	NCT01684215	Phase 2	PD-0332991;PD-0332991;letrozole;PD-0332991;letrozole

Search NIH Clinical Center for Retinoblastoma

Inferred drug relations via UMLS ⁶⁹ / NDF-RT ⁴⁷ :

cyclophosphamide

Sources

Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

#	Genetic test	Affiliating Genes
1	Retinoblastoma, Trilateral ²⁸
2	Retinoblastoma ²⁸	RB1

Sources

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

³⁸

Retina, Eye, Lung, Prostate, Bone, Testes, Pineal

Sources

Publications for Retinoblastoma

Articles related to Retinoblastoma:

(show top 50) (show all 2559)

#	Title	Authors	Year
1	Downregulation of NIMA-related kinase-7 inhibits cell proliferation by inducing cell cycle arrest in human retinoblastoma cells. ( 29434721 )	Zhang J....Zhang Y.	2018
2	Pars Plana Vitrectomy and Endoresection of Refractory Intraocular Retinoblastoma. ( 29153457 )	Zhao J....Gallie B.	2018
3	Improved procedural safety following protocol changes for selective ophthalmic arterial infusion of chemotherapy for treatment of ocular retinoblastoma. ( 29436917 )	Ammanuel S....Hetts S.W.	2018
4	MicroRNA-655 attenuates the malignant biological behaviours of retinoblastoma cells by directly targeting PAX6 and suppressing the ERK and p38A MAPK signalling pathways. ( 29436689 )	Zhang M....Yin H.	2018
5	Leucine-Rich I+-2-Glycoprotein-1 (LRG-1) Expression in Retinoblastoma. ( 29392314 )	Amer R....Pe'er J.	2018
6	A Laser-Activated Multifunctional Targeted Nanoagent for Imaging and Gene Therapy in a Mouse Xenograft Model with Retinoblastoma Y79 Cells. ( 29452275 )	Wu M....Zhou X.	2018
7	Teaching NeuroImages: A diffuse infiltrating retinoblastoma. ( 29358521 )	Friang C....Lecler A.	2018
8	Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents. ( 29379195 )	Hill J.A....Dimaras H.	2018
9	Pharmacokinetics, Tissue Localization, Toxicity, and Treatment Efficacy in the First Small Animal (Rabbit) Model of Intra-Arterial Chemotherapy for Retinoblastoma. ( 29368001 )	Daniels A.B....Richmond A.	2018
10	Screening Children at Risk for Retinoblastoma. ( 29378897 )		2018
11	Insulin receptor substrate-4 is overexpressed in colorectal cancer and promotes retinoblastoma-cyclin-dependent kinase activation. ( 29353348 )	SanmartA-n-Salinas P....Guijarro L.G.	2018
12	SYK-targeted dendritic cell-mediated cytotoxic T lymphocytes enhance the effect of immunotherapy on retinoblastoma. ( 29372378 )	Chen X....Liu T.	2018
13	Clinical and genetic associations for carboplatin-related ototoxicity in children treated for retinoblastoma: A retrospective noncomparative single-institute experience. ( 29350448 )	Soliman S.E....Gallie B.L.	2018
14	Short linear motif core and flanking regions modulate retinoblastoma protein binding affinity and specificity. ( 29370437 )	Palopoli N....Chemes L.B.	2018
15	Incidental neuroblastoma with bilateral retinoblastoma: what are the chances? ( 29336617 )	Roelofs K....Soliman S.E.	2018
16	HAND-HELD OPTICAL COHERENCE TOMOGRAPHY MONITORING OF CHEMORESISTANT RETINOBLASTOMA. ( 29443806 )	Malik K....Shields C.L.	2018
17	OCT-guided management of subclinical recurrent retinoblastoma. ( 29424610 )	Gaillard M.C....Munier F.L.	2018
18	UHRF1 depletion sensitizes retinoblastoma cells to chemotherapeutic drugs via downregulation of XRCC4. ( 29415984 )	He H....Kim J.K.	2018
19	Comment: Intra-arterial chemotherapy for retinoblastoma. ( 28905848 )	Kaur S....Bansal D.	2017
20	Concomitant Intraocular Retinoblastoma and Choroidal Hemangioma in a 1-Year-Old Boy. ( 28984344 )	Yousef Y.A....Deebajah R.	2017
21	Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome. ( 28348883 )	Al-Nawaiseh I....Yousef Y.A.	2017
22	Functional dissection of the role of UHRF1 in the regulation of retinoblastoma methylome. ( 28467809 )	Kan G....Kim J.K.	2017
23	Ocular oncology: advances in retinoblastoma, uveal melanoma and conjunctival melanoma. ( 28069617 )	Vasalaki M....Sagoo M.S.	2017
24	Retinoblastoma cells activate the AKT pathway and are vulnerable to the PI3K/mTOR inhibitor NVP-BEZ235. ( 28445155 )	Xie C....Hallstrom T.C.	2017
25	Intersection of retinoblastoma tumor suppressor function, stem cells, metabolism, and inflammation. ( 28865172 )	Kitajima S....Takahashi C.	2017
26	HIGH-RISK INTRAOCULAR RETINOBLASTOMA: Comparison Between Asian Indians and Americans From Two Major Referral Centers. ( 28834944 )	Kaliki S....Shields J.A.	2017
27	MDM2 but not MDM4 promotes retinoblastoma cell proliferation through p53-independent regulation of MYCN translation. ( 27748758 )	Qi D.L....Cobrinik D.	2017
28	A multidisciplinary approach to improving the care and outcomes of patients with retinoblastoma at a pediatric cancer hospital in Egypt. ( 28085527 )	Elzomor H....Alfaar A.S.	2017
29	Feasibility of RetinoQuest: e-health application to facilitate and improve additional care for retinoblastoma survivors. ( 28948437 )	McNeill N.A....Moll A.C.	2017
30	Vitreous Disease in Retinoblastoma: Clinical Findings and Treatment. ( 29034355 )	Francis J.H....Abramson D.H.	2017
31	Evolution of Chemotherapy Approaches for the Treatment of Intraocular Retinoblastoma: A Comprehensive Review. ( 27898618 )	Yuan S....Daniels A.B.	2017
32	Efficacy and Toxicity of Intravitreous Chemotherapy for Retinoblastoma: Four-Year Experience. ( 28089679 )	Francis J.H....Abramson D.H.	2017
33	Long non-coding RNA CCAT1 promotes human retinoblastoma SO-RB50 and Y79 cells through negative regulation of miR-218-5p. ( 28088735 )	Zhang H....Hu Y.	2017
34	Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 28179631 )	Matilainen S....Suomalainen A.	2017
35	Correction: Ablating all three retinoblastoma family members in mouse lung leads to neuroendocrine tumor formation. ( 28772359 )	LA!zaro S....Santos M.	2017
36	Aberrant promoter hypermethylation of p16, survivin, and retinoblastoma in gastric cancer. ( 28319413 )	Guo L....Ji Q.J.	2017
37	Tetramethylpyrazine-mediated regulation of CXCR4 in retinoblastoma is sensitive to cell density. ( 28447713 )	Wu N....Zhuang J.	2017
38	The Effect of Ophthalmic Artery Chemosurgery on Immune Function in Retinoblastoma Patients: A Single Institution Retrospective Analysis. ( 28906322 )	Fischer C....Dunkel I.J.	2017
39	Blockade of sonic hedgehog signaling decreases viability and induces apoptosis in retinoblastoma cells: The key role of the PI3K/Akt pathway. ( 28943916 )	Song Z....Tao Y.	2017
40	Mature Ovarian Teratoma After Treatment for Unilateral Retinoblastoma With Nonmutated RB1. ( 28719514 )	Collins B....Corey S.J.	2017
41	Evaluation of high-risk features of primary enucleation of patients with retinoblastoma in a tertiary center of a developing country in the era of intra-arterial chemotherapy. ( 28058667 )	Dikkaya F....PazarlA+ H.	2017
42	Quercetin inhibits angiogenesis-mediated human retinoblastoma growth by targeting vascular endothelial growth factor receptor. ( 28927086 )	Song W....Zhang H.	2017
43	MiR-613 suppresses retinoblastoma cell proliferation, invasion, and tumor formation by targeting E2F5. ( 28351331 )	Zhang Y....Huang Z.	2017
44	Analysis of aqueous humor concentrations of cytokines in retinoblastoma. ( 28486560 )	Cheng Y....Liang J.	2017
45	Overexpression of pyruvate dehydrogenase kinase 1 in retinoblastoma: A potential therapeutic opportunity for targeting vitreous seeds and hypoxic regions. ( 28505181 )	Sradhanjali S....Reddy M.M.	2017
46	Misidentified Human Gene Functions with Mouse Models: The Case of the Retinoblastoma Gene Family in Senescence. ( 28865301 )	Alessio N....Galderisi U.	2017
47	Inhibition of E2F1 activity and cell cycle progression by arsenic via retinoblastoma protein. ( 28880708 )	Sheldon L.A.	2017
48	Systematic review of the current status of programs and general knowledge of diagnosis and management of retinoblastoma. ( 29364813 )	RamA-rez-Ortiz M.A....Etulain-GonzA!lez A.	2017
49	Anisometric cell lipoma: Insight from a case series and review of the literature on adipocytic neoplasms in survivors of retinoblastoma suggest a role for RB1 loss and possible relationship to fat-predominant ("fat-only") spindle cell lipoma. ( 28807343 )	Agaimy A.	2017
50	PIWI-like protein, HIWI2 is aberrantly expressed in retinoblastoma cells and affects cell-cycle potentially through OTX2. ( 28861107 )	Sivagurunathan S....Chidambaram S.	2017

Sources

Genes for Retinoblastoma

Genes/enhancers related to Retinoblastoma (1 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	RB1	RB Transcriptional Corepressor 1	Protein Coding	1444.36	Molecular basis known ⁵³ Pathogenic ⁶ Causative variation ⁷¹ Genetic Tests ²⁸ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions Functions Transcripts Variants Domains & Families (show sections)	2594029 20301625 15604628 (more) 23788249 24493721 25394175 25356965 27854360 2601691 1881452 1352883 9341870 16631255 16988938 17299438 10486322 7881418 12016586 9671401 15231717 16672052 14726655 16127685 8178820 19280657 8418305 18503160 1933901 17163992 9326321 14722923 17235288 16343894 14660307 15605413 12955724 8344484 1732054 17472278 9187126 14735589 14516425 8208529 8074836 12402348 1968790 2181449 8437863 1823363 8504130 15763650 16738312 12584188 12210730 12187430 7786597 7935440 8313367 8289506 1679230 16315642 16936742 16042572 15643604 12541220 10631148 10502774 7592647 8007947 8471770 18181215 18000883 16464825 15884040 15480874 11455690 11108660 10390525 10673998 9462847 7704558 19587599 17299438 16808635 11776785 9245987 1844252 1689463 8156496 20090211 18489754 17045206 16824683 10326587 9372965 9130591 8720930 7712461 2117257 20196847 11668642 18509746 18719374 15798281 12479270 12362308 12173465 10702291 10023315 9621119 10920996 9337350 9315472 8404065 19693468 17080083 12374284 11709023
1	RB1::GH13I048302 ²²	TSS distance: +0.5kb Elite enhancer with elite association with RB1			27569544	8570221 25999316
2	RBL1	RB Transcriptional Corepressor Like 1	Protein Coding	104.97	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries Proteins Functions Transcripts Domains & Families (show sections)	7791762 9256285 11260068 (more) 7935440 9642134 16672052 9816293 9620848 11464857 8446173 8321204 7623799 9037740 9278460 11835401 16936750 9916999 8553588 7891719 8507895 1297652 1323816 1827227 19556882 17235288 7892279 8384033 19564414 17531812 15197340 14694185 12717421 12626766 12198120 15311519 16210085 15231644 11837741 10980131 10632341 10597219 9418868 9361185 1833063 2142644 18719374 18719284 18469515 16936754 14675621 14581569 11060782 8872613 8668177 8622649 8319904 15738662 11980674 11877298 11798183 10727462 9556498 9242631 10644518 9726970 9192872 8910512 8895523 8817077 8660916 7739537 10906146 10825149 10093823 10560516 9747874 9271426 1673033 18542057 1534143 17726381 16282477 10802339 9584162 9421073 9139687 8755520 12168053 12019182 11506494 10761990 10708433 10667591 10721488 10534570 15193252 11577176 9776410 9092557
3	PRDM2	PR/SET Domain 2	Protein Coding	82.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries Proteins Functions Expressions (show sections)	7538672 11135439 12002276 (more) 12472571 19325838 17693662 17052263 15309726 11544182 17922684 14534544 16356493 10544042 15069684 10688904 18712668 9223517 10369808
4	RBL2	RB Transcriptional Corepressor Like 2	Protein Coding	77.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Proteins Functions Transcripts Domains & Families (show sections)	12454024 9092557 9916999 (more) 9192669 10597219 8253384 8084002 12538525 17235288 7891719 10708433 17409406 15197340 14694185 12717421 12626766 12198120 12019182 11506494 10761990 14508520 12144826 11060782 9747874 9642134 9271426 18818403 18542057 15231644 9405335 15738662 11980674 11798183 10727462 10644518 10074425 9726970 9192872 11521191 11313936 9501179 9580269 8838859 8832394 7969176 19691827 16061792 20451864 18418057 17905135 16452305 15939381 12434308 12649208 12177046 11467357 11116207 10995476 9556498 8622649 19151761 8895523 8817077 8660916 8058324 18719284 18469515 14675621 14581569 10760093 9418868 16282477 10802339 9584162 9139687 8755520 7892279 10721488 8553588 8507895 14674679 9278460 7523245 9037740
5	E2F1	E2F Transcription Factor 1	Protein Coding	76.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	12610352 15187102 8918469 (more) 16230367 9125176 17938262 11322773 19088195 15304485 12379749 10454591 8114698 8628255 8932363 18521084 19480695 20065973 7935380 16126868 15611081 15590111 14612540 11161609 10888886 10696248 9400991 8964493 15905174 15548374 15138575 11294829 10766769 10594030 10200336 10547394 9139687 11896158 11837741 10980131 10848828 10794484 10760093 10613832 10376532 10340908 15255934 15044617 14681231 12788649 12689523 11704831 11576218 10778992 9359472 8875988 19814732 18524851 14645349 13130078 9292533 9242491 9032231 9045954 9322885 8956996 8552097 8246995 20308528 20196847 18813780 17913805 17667598 9001421 8405995 18818403 18794899 17566113 16158053 14997382 12619038 9891042 9671769 9187120 9122175 8033208 17704056 16547155 16472123 7774910 7971984 8087847 8103936 19629651 20354121 19182532 16786142 7651420 8413249 19805545
6	RBBP4	RB Binding Protein 4, Chromatin Remodeling Factor	Protein Coding	73.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries Proteins Pathways & Interactions Transcripts (show sections)	10734134 15240517 17616526 (more) 19759913
7	RBBP7	RB Binding Protein 7, Chromatin Remodeling Factor	Protein Coding	73.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries Proteins Pathways & Interactions Transcripts (show sections)	15682465 17201172 17927911 (more) 12767060 15798086 17970062 17094482 12376095 11433396 19189660 9765217
8	CDK4	Cyclin Dependent Kinase 4	Protein Coding	67.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Summaries Pathways & Interactions Functions (show sections)	10493518 9103470 7585516 (more) 9488660 9448290 8259215 7486650 8622677 8618439 9388858 10817503 11029524 14980523 16051300 10666414 10488417 10048712 8940249 8909810 8631005 8621603 8521414 20026273 15349907 15254963 11463860 10910956 9774662 9665476 9291941 8806696 8782488 9355981 9341929 8970586 7651726 7630199 7705923 18683188 19196656 17984686 16166266 15684604 15880444 15809340 14573599 13679459 12657672 12642231 11294925 12940460 11799308 11719282 11602203 11259469 11254678 11121681 10066746 9828785 16224795 15028555 15161057 9596994 9485024 9407626 9001421 8548755 18484097 17217918 16357141 10854068 10773403 10514479 10587703 10576656 9724636 9703873 9430710 17559025 17456787 17413032 16901994 16839745 16581249 15746092 15460900 7739541 7954407 20150221 19874578 18583321 15611081 11971966 10761990 15254245 12651890 11003668 10732752 9688145
9	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	66.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries Functions Transcripts (show sections)	14562366
10	DDX1	DEAD-Box Helicase 1	Protein Coding	58.49	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries Functions Expressions (show sections)	9694872 17927523 8125309 (more) 8666277 11955614 8834178 8834177
11	CCND1	Cyclin D1	Protein Coding	57.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions Functions (show sections)	19919588 11286838 9497916 (more) 15509364 10201002 18701138 19152247 9893631 15921011 9274525 10365095 19706764 15951563 10488977 9462706 9449484 8647239 8415648 16839745 10385595 10216470 8609171 9828785 9485024 9815783 8623927 18484097 16357141 15655836 15142168 10773403 15601836 11737469 9459151 9448290 12483537 11174070 11041450 9000144 12507294 11306463 15028555 11679179 11410775 14571727 8246956 8313369 7784057 8729983 10328107 10493518 10900013 12097237 15254245 14629756 12864941 12538525 12237874 11341512 11248121 11029524 12746453 12727828 12472286 12176996 11570573 11126356 10385644 10353443 9666346 10326860 10319380 10547597 9721866 9664905 9495362 9388270 9298094 9168007 17559025 17413032 16510571 16319987 15863513 15247282 14691913 12972956 12477805 17876565 18006821 11690683 11510695 11340376 11426655 10967123 11032757 10769677 10714766 8798425
12	RBBP5	RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	56.19	GeneCards inferred via : Publications Gene name Summaries Proteins Transcripts (show sections)
13	E2F4	E2F Transcription Factor 4	Protein Coding	53.76	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Proteins Pathways & Interactions (show sections)	9139687 15548374 12674332 (more) 12754095
14	E2F3	E2F Transcription Factor 3	Protein Coding	53.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Summaries Proteins Pathways & Interactions (show sections)	16180235 16007192 17251444 (more) 18541154 16909110
15	MDM2	MDM2 Proto-Oncogene	Protein Coding	53.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions Functions (show sections)	18644346 19524506 18045074 (more) 16966622 10963116 9388063 8932331 15703839 9627179 10817503 17297463 17896003 8706243 11008360 16337594 9296509 14645349 19459846 15269162 11576218 11306736 9586912 9407626 14573599 12393983 12782320 16078265 12461781 10665922 9322885 17251444 16510145 10574604 11796486 7791904 9774662 10086736
16	E2F2	E2F Transcription Factor 2	Protein Coding	52.7	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries Proteins Pathways & Interactions (show sections)
17	CCND3	Cyclin D3	Protein Coding	52.67	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions Functions (show sections)	12421932 9154817 14559823 (more) 16267832 18701138 9120257 12393642 17413032 16965383 11035070 12674332 19229248 19960406 20237320 11719364 12716759 15100154 17575161 17911615 10393969 10682682 12972807 16856892 20113529 10227977
18	TFDP1	Transcription Factor Dp-1	Protein Coding	52.02	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Proteins Pathways & Interactions (show sections)	1297652 8964493 7784053 (more) 9322885 12972807 12588846
19	RBBP9	RB Binding Protein 9, Serine Hydrolase	Protein Coding	51.43	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name Summaries Functions Transcripts (show sections)
20	ARID4A	AT-Rich Interaction Domain 4A	Protein Coding	51.13	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries Functions (show sections)	10496363 8455946 14581478 (more) 17879257 10369074 15802376 16873370 16479010 11283269 14611687 1857421 10490602
21	KDM5A	Lysine Demethylase 5A	Protein Coding	41.99	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Gene name Summaries (show sections)	10942599 7935440 8530100 (more) 16419055 11358960 10616211 1857421 9129143
22	HDAC1	Histone Deacetylase 1	Protein Coding	41.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Summaries Pathways & Interactions (show sections)	16964284 10888886 11847125 (more) 18391013 15304485 11573202 15240517
23	RBBP6	RB Binding Protein 6, Ubiquitin Ligase	Protein Coding	41.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name Summaries Transcripts (show sections)
24	CDK2	Cyclin Dependent Kinase 2	Protein Coding	37.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions (show sections)	7954429 9103470 16824683 (more) 9492054 16740772 15634230 14979923 8321204 7486650 8622677 8876166 9464540 9854178 9864142 10393673 11359910 11453659 12030783 11835401 12421932 12835226 15187102 15254245 15729575 16839745 16077900 16128747 15746092 11223026 11062725 10075979 9168007 17928568 7566981 19825886 18282478 17913829 17420273 15880444 15666088 10788799 10762593 15811853 11289134 10074425 9207452 19665013 19286570 17696513 15499387 11719282 10942577 10771513 10447003 10363976 9553123 9400494 9135019 8647086 7542356 12126481 11349829 11121462 8166726 19135778 18023427 17911615 17145768 17283158 16985050 16750360 10432313 10066746 10574984 9596994 9485024 9215124 9096690 8650198 10625307 9927683 9652739 9607563 9430710 9101083 18683188 16901994 16732323 14678992 12820434 11313939 11264255 10773875 10761990 10665655 9770354 8831577 16549447 18236071
25	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	36.93	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Functions (show sections)	16467168 11914625 20039270 (more) 15509364 18644346 12461329 8622883 8971152 9736404 7954407 9495362 16254459 17297463 11480170 11100316 11679179 11355167 18484097 15655836 15168247 7585516 7705923 9664118 7603984 15634230 11389063 16616093 15257310 12507294 10574258 7591270 8986790 9054597 9177281 9854178 10339660 10498902 16809094 15578683 15312681 15107819 12447702 11581185 10962575 10763818 10732752 11118035 11012984 10733143 10713671 10488417 10385644 10048712 10022125 10574604 9291941 9291430 9269824 9166931 8806696 19188815 18936692 18781132 16677523 15460900 14719099 14691913 14510989 12445746 12437373 12207741 11792751 10769677 7589458 7630199 18794045 18211953 18047520 17486064 17277618 17117177 17016600 16799619 16175083 15976342 15867383 15658653 10707085 10086736 10573103 10547597 10547394 9774662 9665476 9639417 16468415 15894931 15623583 14976529
26	TP53	Tumor Protein P53	Protein Coding	36.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions (show sections)	10792093 9337350 11306502 (more) 8224613 11835813 7934068 17080083 8119988 1336709 11016333 8417815 8398064 17136003 11556748 7850321 10440751 10488977 11286838 1655254 1468776 8390666 8827049 8735341 8003286 8950161 10757447 11577176 9521470 9215125 7624123 7708441 1453267 1648218 8674005 15203749 12461329 9209523 9291430 8751330 8594075 7791904 17050806 15906946 15752352 12584188 11850804 11232646 8195930 8384745 9862563 9500219 9388063 9250829 9046256 8222834 1906503 10963116 11835814 10574258 9650754 10880954 9800976 9664118 9367711 7655737 14675342 12547405 11389063 11174070 10347252 9816284 8932331 8659013 1650445 17710407 16006801 14645349 11436168 10452502 8623759 15017589 12876306 9285694 18644346 18702872 18245467 11277421 9186339 2142001 1848948 1313285 8104920 8251916 8263009 9537649 9369933 9197475 9158680 9109790
27	CDK6	Cyclin Dependent Kinase 6	Protein Coding	36.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions (show sections)	18305152 19145199 11804329 (more) 9488660 9151805 15142168 10514479 7610482 8618439 9164930 9461564 10022885 8521414 9154817 15460900 15349907 9120257 7777060 19874578 18577219 17897300 16267832 10761990 7954450 8114739 19667758 18406353 16357141 15684604 15809340 10625307 10030668 10022865 8934552 8622687 10777219 10682682 9101082 9121767 8570224 8561896 19838216 17148439 12943967 11278443 10416984 19435910 18023427 16985050 16824683 12459251 10919634 9354681 9192874 9724636 9652739 8847892 8797766 7651726 7630199 17413032 16510571 8909810 7859739 18183592 10475236 11003668 11453659 15930460
28	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	36.05	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions (show sections)	11306502 15752352 9650754 (more) 10769022 7890601 9586815 9854178 10433861 10858953 11277421 11691789 14527674 14871993 15578683 15897598 16528364 16339764 16949911 20026273 9278434 10030670 11343236 10419481 10359525 9924195 9927683 9686602 7568064 18697201 17251444 10617580 10498892 9828785 9327828 9185997 19058005 17487846 16243918 16019758 9311612 18086166 16508959 15249425 15172750 12930830 12460907 10964085 9348195 15044691 11836585 11329487 10733944 10620458 9841867 9472696 16204037 15345676 15350370 18047783 17218785 15681163 11313991 10896207 10825186 10771513 10029406 11776785 9553123 9492054 19369901 19427096 15999099 15799621 14653808 12955040 11549509 11426536 16210085 15880444 15755852 15525823 12893773 12787874 12239337 11920733 16609829 14510989 12576448 11306695 10769677 10353599 8641969 19723065 16677523 16428935 16140969 15894931 10353443 10385644
29	RBP3	Retinol Binding Protein 3	Protein Coding	36.01	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Summaries (show sections)	11597600 8115118 11134581 (more) 11301407 19823802 7928191 1606838 10372988 11278819 11934446
30	TAF1	TATA-Box Binding Protein Associated Factor 1	Protein Coding	35.32	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions Functions (show sections)	9858607 9242374 11278496
31	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	35.29	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Functions (show sections)	18538370 12232763 8343223 (more) 1865909 17235288 9365831 8669886 1923500 1327147 7731693 8589036 19524506 16007177 12972807 8392280 11826111 8834178 18074352 12880971 1571096 15975048
32	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	34.93	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions (show sections)	12783864 9083081 16740772 (more) 8916935 11710642 16407831 19145199 19372464 20026273 10665655 16077900 15059916 11549509 11031257 9247132 19556892 15564594 10639568 18192871 17456787 19828622 18281026 17905135 17724117 16078265 16007177 11349829 11301180 10702262 19814732 15583032 11719364 10435640 15867383 12460649 15868430 16140954 16677523 10213503 10319380
33	CCNA2	Cyclin A2	Protein Coding	34.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications Pathways & Interactions (show sections)	15187102 19706764 1323816 (more) 14681231 8698743 1830372 8321204 7623829 9219533 19603101 9393586 11322773 10488103 9639417 9103470 1826347 15767419 15371785 14678992 11865060 15059916 11292628 10693934 9581828 8588237 8253383 8386263 17566113 15981808 16824683 16943179 16189149 15811853 15564485 11928993 11877298 10224236 9525736 15645132 11272092 10485490 9053846 8838859 8248208 8426741 1532458 1833561 19586909 18440854 17128276 17568647 11746367 11349829 10771513 9135019 8647086 18483753 16826571 9207452 7799940 1837143 1653969 19960406 19168586 17696513 15999099 10392903 9430710 9101083 7685208 1834460 19919528 15905174 14510989 8964493 20026273 9433129 10753937 11040180 11835401 15064746
34	SERPINF1	Serpin Family F Member 1	Protein Coding	33.22	Novoseek inferred ⁵¹ GeneCards inferred via : Publications Summaries Functions (show sections)	19832843 10531367 8188257 (more) 12625842 7803045 8527930 18805795 7760030 9829178 10441236 15302351 9335258 8434014 15823717 15051476 16885909 9689919

Sources

Variations for Retinoblastoma

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

⁷¹ (show all 22)

#	Symbol	AA change	Variation ID	SNP ID
1	RB1	p.Glu72Gln	VAR_005572
2	RB1	p.Glu137Asp	VAR_005573	rs3092902
3	RB1	p.Ile185Thr	VAR_005574
4	RB1	p.Arg358Gln	VAR_005575	rs767011440
5	RB1	p.Met457Arg	VAR_005576
6	RB1	p.His549Tyr	VAR_005578	rs1050717570Childhood
7	RB1	p.Ser567Leu	VAR_005579	rs137853292
8	RB1	p.Ala635Pro	VAR_005580
9	RB1	p.Val654Glu	VAR_005581
10	RB1	p.Arg661Trp	VAR_005582	rs137853294
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	rs137853296
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

ClinVar genetic disease variations for Retinoblastoma:

⁶ (show top 50) (show all 126)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RB1	NM_000321.2(RB1): c.2520+1delG	deletion	Pathogenic	rs587776779	GRCh37	Chromosome 13, 49047527: 49047527
2	RB1	NM_000321.2(RB1): c.1960+2T> C	single nucleotide variant	Pathogenic	rs587776780	GRCh37	Chromosome 13, 49030487: 49030487
3	RB1	NM_000321.2(RB1): c.1333C> T (p.Arg445Ter)	single nucleotide variant	Pathogenic	rs3092891	GRCh37	Chromosome 13, 48953730: 48953730
4	RB1	NM_000321.2(RB1): c.1700C> T (p.Ser567Leu)	single nucleotide variant	Pathogenic	rs137853292	GRCh37	Chromosome 13, 49027133: 49027133
5	RB1	NM_000321.2(RB1): c.2359C> T (p.Arg787Ter)	single nucleotide variant	Pathogenic	rs137853293	GRCh37	Chromosome 13, 49039374: 49039374
6	RB1	NM_000321.2(RB1): c.2244delG (p.Glu748Aspfs)	deletion	Pathogenic	rs587776781	GRCh37	Chromosome 13, 49039166: 49039166
7	RB1	NM_000321.2(RB1): c.1049+1G> T	single nucleotide variant	Pathogenic	rs587776782	GRCh37	Chromosome 13, 48941740: 48941740
8	RB1	NM_000321.2(RB1): c.1072C> T (p.Arg358Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913301	GRCh37	Chromosome 13, 48942685: 48942685
9	RB1	RB1, 5-BP DEL, EX8	deletion	Pathogenic
10	RB1	NM_000321.2(RB1): c.979_1033dup55 (p.Thr345Lysfs)	duplication	Pathogenic		GRCh37	Chromosome 13, 48941669: 48941723
11	RB1	NM_000321.2(RB1): c.1760_1769delAATCTGCTTG (p.Glu587Valfs)	deletion	Pathogenic	rs587776784	GRCh37	Chromosome 13, 49027193: 49027202
12	RB1	NM_000321.2(RB1): c.1949_1957delTTTATAAAA (p.Phe650_Lys928del)	deletion	Pathogenic	rs587776785	GRCh37	Chromosome 13, 49030474: 49030482
13	RB1	NM_000321.2(RB1): c.2212-1G> A	single nucleotide variant	Pathogenic	rs587776786	GRCh37	Chromosome 13, 49039133: 49039133
14	RB1	NM_000321.2(RB1): c.-189G> T	single nucleotide variant	Pathogenic	rs387906520	GRCh37	Chromosome 13, 48877860: 48877860
15	RB1	NM_000321.2(RB1): c.-198G> A	single nucleotide variant	Pathogenic	rs387906521	GRCh37	Chromosome 13, 48877851: 48877851
16	RB1	NM_000321.2(RB1): c.1981C> T (p.Arg661Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137853294	GRCh37	Chromosome 13, 49033844: 49033844
17	RB1	RB1, GLN675TER	single nucleotide variant	Pathogenic
18	RB1	NM_000321.2(RB1): c.2211G> A (p.Glu737=)	single nucleotide variant	Pathogenic	rs587776787	GRCh37	Chromosome 13, 49037971: 49037971
19	RB1	NM_000321.2(RB1): c.1666C> T (p.Arg556Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913304	GRCh37	Chromosome 13, 48955550: 48955550
20	RB1	NM_000321.2(RB1): c.1439_1441delACA (p.Asn480del)	deletion	Pathogenic	rs587776788	GRCh37	Chromosome 13, 48954318: 48954320
21	RB1	NM_000321.2(RB1): c.2134T> C (p.Cys712Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137853296	GRCh37	Chromosome 13, 49037894: 49037894
22	RB1	NM_000321.2(RB1): c.607+1G> T	single nucleotide variant	Pathogenic	rs587776789	GRCh37	Chromosome 13, 48923160: 48923160
23	RB1	NM_000321.2(RB1): c.1818T> A (p.Tyr606Ter)	single nucleotide variant	Pathogenic	rs137853297	GRCh37	Chromosome 13, 49030343: 49030343
24	RB1	NM_000321.2(RB1): c.43_65dup23 (p.Pro23Leufs)	duplication	Pathogenic	rs587776790	GRCh37	Chromosome 13, 48878091: 48878113
25	RB1	NM_000321.2(RB1): c.2490-1398A> G	single nucleotide variant	Pathogenic	rs587776791	GRCh37	Chromosome 13, 49046098: 49046098
26	RB1	NM_000321.2(RB1): c.1927A> G (p.Lys643Glu)	single nucleotide variant	Pathogenic	rs587778866	GRCh37	Chromosome 13, 49030452: 49030452
27	RB1	NM_000321.2(RB1): c.1399C> T (p.Arg467Ter)	single nucleotide variant	Pathogenic	rs398123331	GRCh37	Chromosome 13, 48954198: 48954198
28	RB1	NM_000321.2(RB1): c.1585dupT (p.Tyr529Leufs)	duplication	Pathogenic	rs398123332	GRCh37	Chromosome 13, 48955469: 48955469
29	RB1	NM_000321.2(RB1): c.2067_2079delGAATGAGTATGAAinsCAC (p.Gln689Hisfs)	indel	Pathogenic	rs398123333	GRCh37	Chromosome 13, 49033930: 49033942
30	RB1	NM_000321.2(RB1): c.1927A> G (p.Lys643Glu)	single nucleotide variant	Pathogenic	rs587778866	GRCh38	Chromosome 13, 48456316: 48456316
31	RB1	NM_000321.2(RB1): c.1960+5G> A	single nucleotide variant	Pathogenic	rs587778871	GRCh37	Chromosome 13, 49030490: 49030490
32	RB1	NM_000321.2(RB1): c.1961-2A> T	single nucleotide variant	Pathogenic	rs587778867	GRCh37	Chromosome 13, 49033822: 49033822
33	RB1	NM_000321.2(RB1): c.1973C> A (p.Ala658Asp)	single nucleotide variant	Pathogenic	rs587778834	GRCh37	Chromosome 13, 49033836: 49033836
34	RB1	NM_000321.2(RB1): c.1738G> T (p.Glu580Ter)	single nucleotide variant	Pathogenic	rs587778858	GRCh38	Chromosome 13, 48453035: 48453035
35	RB1	NG_009009.1: g.154289dupA	duplication	Pathogenic
36	RB1	NM_000321.2(RB1): c.1909C> T (p.Gln637Ter)	single nucleotide variant	Pathogenic	rs587778833	GRCh37	Chromosome 13, 49030434: 49030434
37	RB1	NM_000321.2(RB1): c.1925T> A (p.Leu642Ter)	single nucleotide variant	Pathogenic	rs587778865	GRCh37	Chromosome 13, 49030450: 49030450
38	RB1	NM_000321.2(RB1): c.2101G> A (p.Asp701Asn)	single nucleotide variant	Pathogenic	rs587778859	GRCh37	Chromosome 13, 49033964: 49033964
39	RB1	NM_000321.2(RB1): c.1723C> T (p.Gln575Ter)	single nucleotide variant	Pathogenic	rs587778864	GRCh37	Chromosome 13, 49027156: 49027156
40	RB1	NM_000321.2(RB1): c.1735C> T (p.Arg579Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913305	GRCh37	Chromosome 13, 49027168: 49027168
41	RB1	NM_000321.2(RB1): c.2107-1G> C	single nucleotide variant	Pathogenic	rs587778860	GRCh37	Chromosome 13, 49037866: 49037866
42	RB1	NM_000321.2(RB1): c.2164A> T (p.Lys722Ter)	single nucleotide variant	Pathogenic	rs587778849	GRCh37	Chromosome 13, 49037924: 49037924
43	RB1	NM_000321.2(RB1): c.2197C> T (p.His733Tyr)	single nucleotide variant	Pathogenic	rs587778835	GRCh37	Chromosome 13, 49037957: 49037957
44	RB1	NM_000321.2(RB1): c.2209G> T (p.Glu737Ter)	single nucleotide variant	Pathogenic	rs587778868	GRCh37	Chromosome 13, 49037969: 49037969
45	RB1	NG_009009.1: g.1662319T> A	single nucleotide variant	Pathogenic
46	RB1	NM_000321.2(RB1): c.2227_2230dupTTGA (p.Lys745Aspfs)	duplication	Pathogenic	rs587778836	GRCh37	Chromosome 13, 49039149: 49039152
47	RB1	NM_000321.2(RB1): c.2247T> A (p.Tyr749Ter)	single nucleotide variant	Pathogenic	rs587778861	GRCh37	Chromosome 13, 49039169: 49039169
48	RB1	NG_009009.1: g.166501C> G	single nucleotide variant	Pathogenic
49	RB1	NM_000321.2(RB1): c.2453delG (p.Gly818Valfs)	deletion	Pathogenic	rs587778837	GRCh37	Chromosome 13, 49039468: 49039468
50	RB1	NM_000321.2(RB1): c.2490-1G> A	single nucleotide variant	Pathogenic	rs587778838	GRCh37	Chromosome 13, 49047495: 49047495

Cosmic variations for Retinoblastoma:

⁹ (show all 38)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	Conf
1	COSM878	RB1	eye,retina,retinoblastoma,NS	c.751C>T	p.R251*	28
2	COSM889	RB1	eye,retina,retinoblastoma,NS	c.2158A>T	p.K720*	28
3	COSM1015	RB1	eye,retina,retinoblastoma,NS	c.1215+1G>A	p.?	28
4	COSM144722	RB1	eye,retina,retinoblastoma,NS	c.265-2A>C	p.?	28
5	COSM1047	RB1	eye,retina,retinoblastoma,NS	c.982A>C	p.N328H	28
6	COSM942	RB1	eye,retina,retinoblastoma,NS	c.2063T>C	p.L688P	28
7	COSM880	RB1	eye,retina,retinoblastoma,NS	c.1333C>T	p.R445*	28
8	COSM891	RB1	eye,retina,retinoblastoma,NS	c.958C>T	p.R320*	28
9	COSM890	RB1	eye,retina,retinoblastoma,NS	c.409G>T	p.E137*	28
10	COSM1041	RB1	eye,retina,retinoblastoma,NS	c.1049+1G>T	p.?	28
11	COSM1017	RB1	eye,retina,retinoblastoma,NS	c.380+1G>T	p.?	28
12	COSM3724510	RB1	eye,retina,retinoblastoma,NS	c.2527G>T	p.E843*	28
13	COSM1050	RB1	eye,retina,retinoblastoma,NS	c.1421G>A	p.S474N	28
14	COSM877	RB1	eye,retina,retinoblastoma,NS	c.341C>A	p.S114*	28
15	COSM910	RB1	eye,retina,retinoblastoma,NS	c.1467C>A	p.C489*	28
16	COSM895	RB1	eye,retina,retinoblastoma,NS	c.1363C>T	p.R455*	28
17	COSM13117	RB1	eye,retina,retinoblastoma,NS	c.2053C>T	p.Q685*	28
18	COSM1636648	RB1	eye,retina,retinoblastoma,NS	c.2106+2T>G	p.?	28
19	COSM1014	RB1	eye,retina,retinoblastoma,NS	c.1216-2A>G	p.?	28
20	COSM888	RB1	eye,retina,retinoblastoma,NS	c.1666C>T	p.R556*	28
21	COSM938	RB1	eye,retina,retinoblastoma,NS	c.967G>T	p.E323*	28
22	COSM887	RB1	eye,retina,retinoblastoma,NS	c.1654C>T	p.R552*	28
23	COSM943	RB1	eye,retina,retinoblastoma,NS	c.763C>T	p.R255*	28
24	COSM1026	RB1	eye,retina,retinoblastoma,NS	c.2326-2A>C	p.?	28
25	COSM903	RB1	eye,retina,retinoblastoma,NS	c.1494T>A	p.Y498*	28
26	COSM1013	RB1	eye,retina,retinoblastoma,NS	c.1389+1G>C	p.?	28
27	COSM876	RB1	eye,retina,retinoblastoma,NS	c.160G>T	p.E54*	28
28	COSM1030	RB1	eye,retina,retinoblastoma,NS	c.1961-1G>A	p.?	28
29	COSM1040	RB1	eye,retina,retinoblastoma,NS	c.1960+2T>C	p.?	28
30	COSM911	RB1	eye,retina,retinoblastoma,NS	c.1166T>A	p.L389*	28
31	COSM3724517	RB1	eye,retina,retinoblastoma,NS	c.862-5T>G	p.?	28
32	COSM3724518	RB1	eye,retina,retinoblastoma,NS	c.2520+4A>G	p.?	28
33	COSM936	RB1	eye,retina,retinoblastoma,NS	c.1183C>T	p.Q395*	28
34	COSM1016	RB1	eye,retina,retinoblastoma,NS	c.1960+1G>A	p.?	28
35	COSM882	RB1	eye,retina,retinoblastoma,NS	c.2152G>A	p.D718N	28
36	COSM764	PIK3CA	eye,retina,retinoblastoma,NS	c.1634A>G	p.E545G	28
37	COSM521	KRAS	eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	28
38	COSM520	KRAS	eye,retina,retinoblastoma,NS	c.35G>T	p.G12V	28

Copy number variations for Retinoblastoma from CNVD:

⁷ (show top 50) (show all 60)

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	13753	1	1	27800000	Loss	TP73	Retinoblastoma
2	17187	1	141465960	179620513	Gain	MCL1	Retinoblastoma
3	17188	1	141465960	179620513	Gain	MUC1	Retinoblastoma
4	17189	1	141465960	179620513	Gain	SHC1	Retinoblastoma
5	35903	1	68700000	69500000	Copy number		Retinoblastoma
6	39761	10	119100000	135374737	Copy number	MGMT	Retinoblastoma
7	49686	11	110000000	120700000	Loss	IGSF4	Retinoblastoma
8	51534	11	127676090	128202918	Losse	ETS1	Retinoblastoma
9	53561	11	31000000	36400000	Copy number	CD44	Retinoblastoma
10	53578	11	31000000	36400000	Gain	PAX6	Retinoblastoma
11	53580	11	31000000	36400000	Gain	WT1	Retinoblastoma
12	57117	11	63100000	76700000	Copy number	GSTP1	Retinoblastoma
13	64482	12	128700000	132349534	Loss	CHFR	Retinoblastoma
14	75253	13	18400000	22200000	Copy number		Retinoblastoma
15	76125	13	27800000	31100000	Loss	BRCA2	Retinoblastoma
16	76619	13	33623259	78516556	Losse	ARLTS1	Retinoblastoma
17	76620	13	33623259	78516556	Losse	RB1	Retinoblastoma
18	77033	13	39500000	52200000	Copy number		Retinoblastoma
19	77039	13	39500000	52200000	Deletion	HTR2A	Retinoblastoma
20	77041	13	39500000	52200000	Deletion	NUFIP1	Retinoblastoma
21	77043	13	39500000	52200000	Deletion	PCDH17	Retinoblastoma
22	77045	13	39500000	52200000	Deletion	PCDH8	Retinoblastoma
23	77635	13	46200000	48900000	Copy number		Retinoblastoma
24	77647	13	46200000	48900000	Loss	RB1	Retinoblastoma
25	77992	13	48877883	49056026	Mutation	RB1	Retinoblastoma
26	80983	14	1	106368585	Copy number		Retinoblastoma
27	87295	14	72900000	78400000	Gain	MLH3	Retinoblastoma
28	89229	15	14100000	18400000	Copy number		Retinoblastoma
29	94758	15	70400000	73100000	Copy number		Retinoblastoma
30	98276	16	16700000	27600000	Gain	PYCARD	Retinoblastoma
31	102221	16	50674625	57636204	Losse	CYLD	Retinoblastoma
32	102222	16	50674625	57636204	Losse	RBL2	Retinoblastoma
33	106052	16	85600000	87200000	Loss	CDH13	Retinoblastoma
34	116545	17	6800000	11200000	Loss	TP53	Retinoblastoma
35	119289	18	10900000	15400000	Copy number		Retinoblastoma
36	120630	18	2900000	7200000	Copy number		Retinoblastoma
37	124148	19	1	63811651	Copy number		Retinoblastoma
38	137753	2	15120360	17242742	Gain	DDX1	Retinoblastoma
39	137754	2	15120360	17242742	Gain	MYCN	Retinoblastoma
40	146281	2	47600000	61100000	Copy number	MSH6	Retinoblastoma
41	155742	20	57900000	62435964	Loss	GATA5	Retinoblastoma
42	166071	3	1	199501827	Copy number		Retinoblastoma
43	179178	3	8700000	11500000	Gain	VHL	Retinoblastoma
44	200479	5	55800000	115200000	Gain	APC	Retinoblastoma
45	204222	6	108083	58827841	Gain	CCND3	Retinoblastoma
46	204223	6	108083	58827841	Gain	DEK	Retinoblastoma
47	204224	6	108083	58827841	Gain	E2F3	Retinoblastoma
48	204225	6	108083	58827841	Gain	IRF4	Retinoblastoma
49	204226	6	108083	58827841	Gain	PIM1	Retinoblastoma
50	206873	6	149100000	152600000	Gain	ESR	Retinoblastoma

Sources

Expression for Retinoblastoma

Search GEO for disease gene expression data for Retinoblastoma.

Sources

Pathways for Retinoblastoma

Pathways related to Retinoblastoma according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Cell cycle	hsa04110

Pathways related to Retinoblastoma according to GeneCards Suite gene sharing:

(show top 50) (show all 66)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁰ Show member pathways ILK Signaling ⁶⁰ MAPK Signaling ⁶⁰ Molecular Mechanisms of Cancer ⁶⁰ Rho Family GTPases ⁶⁰	13.89	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
2	Gene Expression ⁶² Show member pathways Generic Transcription Pathway ⁶²	13.86	DDX1 E2F1 E2F4 MDM2 RBBP4 RBBP7
3	GPCR Pathway ⁶⁰ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁰ Estrogen Pathway ⁶⁰ NFAT in Immune Response ⁶⁰ P2Y Receptor Signaling ⁶⁰ Pancreatic Adenocarcinoma ⁶⁰ Paxillin Interactions ⁶⁰ Ras Pathway ⁶⁰	13.76	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
4	Cell Cycle, Mitotic ⁶² Show member pathways Cell Cycle ⁶² M Phase ⁶²	13.49	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
5	Cellular Senescence (REACTOME) ⁶² Show member pathways Cellular Senescence ⁶² Oxidative Stress Induced Senescence ⁶² Senescence-Associated Secretory Phenotype (SASP) ⁶²	13.25	CDK4 E2F1 E2F2 E2F3 MDM2 RB1
6	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶² Colorectal cancer ³⁶ EGFR tyrosine kinase inhibitor resistance ³⁶ Glioma ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²¹ Signaling Pathways in Glioblastoma ¹ Thyroid cancer ³⁶	13.12	CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
7	Regulation of TP53 Activity ⁶² Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶² Regulation of TP53 Activity through Methylation ⁶² Regulation of TP53 Activity through Phosphorylation ⁶² Transcriptional Regulation by TP53 ⁶²	13.1	E2F1 E2F4 MDM2 RBBP4 RBBP7 RBBP8
8	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	13.09	CCND1 CCND3 CDK4 E2F1 MDM2 RB1
9	Chromatin organization ⁶² Show member pathways Chromatin modifying enzymes ⁶² HATs acetylate histones ⁶²	13.05	ARID4A CCND1 CDK4 RBBP4 RBBP5 RBBP7
10	Pathways in cancer ³⁶	12.97	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
11	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.84	CCND1 CDK4 E2F1 E2F2 E2F3 RB1
12	Chks in Checkpoint Regulation ⁶⁰ Show member pathways DNA Repair Mechanisms ⁶⁰ Estrogen-mediated S-Phase Entry ⁶⁰ G2-M Phase Transition ⁶⁰ Parkinson's Disease Pathway ⁶⁰ SREBP Proteolysis ⁶⁰	12.8	CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
13	Mitotic G1-G1/S phases ⁶² Show member pathways G1 to S cell cycle control ¹ G1/S Transition ⁶²	12.74	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
14	Relaxin signaling pathway ³⁶ Show member pathways Endocrine resistance ³⁶ Estrogen signaling pathway ³⁶ Relaxin receptors ⁶²	12.71	CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
15	Kaposi's sarcoma-associated herpesvirus infection ³⁶ Show member pathways Hepatitis B ³⁶	12.68	CCND1 CDK4 E2F1 E2F2 E2F3 RB1
16	DNA Damage ⁴	12.66	CCND1 CCND3 CDK4 E2F1 MDM2 RB1
17	MicroRNAs in cancer ³⁶	12.59	CCND1 E2F1 E2F2 E2F3 MDM2
18	WNT Signaling ⁶⁰	12.59	CCND1 CCND3 CDK4 E2F1 E2F4 RB1
19	HTLV-I infection ³⁶	12.57	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
20	Human Embryonic Stem Cell Pluripotency ⁶⁰ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁰	12.55	E2F1 E2F2 E2F3 E2F4 RB1
21	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁶	12.5	CCND1 CCND3 CDK4 E2F1 MDM2 RB1
22	Viral carcinogenesis ³⁶	12.46	CCND1 CCND3 CDK4 MDM2 RB1 RBL1
23	Cell cycle ³⁶ ¹	12.46	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
24	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁶ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁰	12.44	CCND1 CCND3 CDK4 RB1
25	p53 Signaling ⁶⁰ Show member pathways p53 Pathway ⁶³	12.43	CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
26	Cell cycle Role of SCF complex in cell cycle regulation ²¹ Show member pathways Cell cycle ESR1 regulation of G1/S transition ²¹ Cell cycle Regulation of G1/S transition (part 1) ²¹ Immune response MIF-JAB1 signaling ²¹	12.4	CCND1 CCND3 CDK4 E2F1 E2F4 RB1
27	MAPK Signaling: Mitogen Stimulation Pathway ⁶¹ Show member pathways Akt Signaling Pathway ⁶¹	12.37	CCND1 CCND3 CDK4 E2F1 E2F2 E2F4
28	Cellular senescence (KEGG) ³⁶	12.35	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
29	Chronic myeloid leukemia ³⁶ Show member pathways Pancreatic cancer ³⁶	12.3	CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
30	Integrated Breast Cancer Pathway ¹	12.26	CCND1 CDK4 E2F1 MDM2 RB1
31	Cyclins and Cell Cycle Regulation ⁶⁰ Show member pathways Cell Cycle Control by BTG Proteins ⁶⁰ Cyclin D associated events in G1 ⁶² G1 Phase ⁶² G1-S Phase Transition ⁶⁰ Phosphorylation of proteins involved in G1/S transition by active Cyclin E-Cdk2 complexes ⁶²	12.25	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
32	TGF-beta Signaling Pathway (WikiPathways) ¹	12.2	CCND1 E2F4 RBL1 RBL2 TFDP1
33	Adipogenesis ¹	12.19	E2F1 E2F4 RB1 RBL1 RBL2
34	PKMTs methylate histone lysines ⁶² Show member pathways Histone Modifications ¹	12.17	PRDM2 RBBP4 RBBP5 RBBP7
35	SMAD Signaling Network ⁶⁰	12.17	E2F1 MDM2 RB1 RBBP4 RBBP7
36	p53 Pathway (RnD) ⁶¹	12.14	CCND1 CCND3 CDK4 MDM2
37	Glioblastoma Multiforme ⁶⁰	12.12	CCND1 CDK4 E2F1 E2F2 E2F3 E2F4
38	Pre-NOTCH Expression and Processing ⁶² Show member pathways Defective LFNG causes SCDO3 ⁶² Notch-HLH transcription pathway ⁶² Post-transcriptional silencing by small RNAs ⁶² Pre-NOTCH Processing in Golgi ⁶² Pre-NOTCH Processing in the Endoplasmic Reticulum ⁶² Pre-NOTCH Transcription and Translation ⁶²	12.11	CCND1 E2F1 E2F3 TFDP1
39	Spinal Cord Injury ¹	12.09	CCND1 CDK4 E2F1 RB1
40	DNA Damage Response (only ATM dependent) ¹	12.06	CCND1 CCND3 MDM2 RBL2
41	TP53 Regulates Transcription of Cell Cycle Genes ⁶² Show member pathways TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain ⁶² TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest ⁶² TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest ⁶²	12.06	E2F1 E2F4 RBL1 RBL2 TFDP1
42	Small cell lung cancer ³⁶	12.05	CCND1 CDK4 E2F1 E2F2 E2F3 RB1
43	BRCA1 Pathway ⁶⁰ Show member pathways Fanconi's Anaemia Pathway ⁶⁰	11.99	E2F1 E2F2 E2F3 E2F4 RB1 RBBP8
44	Cell cycle Cell cycle (generic schema) ²¹ Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²¹ G0 and Early G1 ⁶² G2 Phase ⁶²	11.96	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
45	Senescence and Autophagy in Cancer ¹	11.94	E2F1 MDM2 RB1
46	Regulation of nuclear SMAD2/3 signaling ¹	11.92	CDK4 RBBP4 RBBP7 RBL1 TFDP1
47	Bladder cancer ³⁶ ¹	11.92	CCND1 CDK4 E2F1 E2F2 E2F3 MDM2
48	Androgen receptor signaling pathway ¹	11.87	CCND1 MDM2 RB1
49	Human Thyroid Stimulating Hormone (TSH) signaling pathway ¹	11.86	CCND3 CDK4 E2F1 RB1 RBL2
50	TGF-beta signaling pathway (KEGG) ³⁶	11.83	E2F4 RBL1 TFDP1

Sources

GO Terms for Retinoblastoma

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:0005667	9.61	CDK4 E2F1 E2F2 E2F3 E2F4 RB1
2	nucleoplasm	GO:0005654	9.6	ARID4A CCND1 CCND3 CDK4 DDX1 E2F1
3	transcriptional repressor complex	GO:0017053	9.58	ARID4A CCND1 RBBP8
4	RNA polymerase II transcription factor complex	GO:0090575	9.54	E2F2 E2F3 TFDP1
5	ESC/E(Z) complex	GO:0035098	9.46	RBBP4 RBBP7
6	NuRD complex	GO:0016581	9.43	RBBP4 RBBP7
7	cyclin-dependent protein kinase holoenzyme complex	GO:0000307	9.43	CCND1 CCND3 CDK4
8	Rb-E2F complex	GO:0035189	9.32	E2F1 RB1
9	nucleus	GO:0005634	10.16	ARID4A CCND1 CCND3 CDK4 DDX1 E2F1

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

(show all 31)

#	Name	GO ID	Score	Top Affiliating Genes
1	covalent chromatin modification	GO:0016569	9.99	RB1 RBBP4 RBBP5 RBBP7 RBL1 RBL2
2	regulation of cell proliferation	GO:0042127	9.93	CCND3 CDK4 E2F4 RBBP9
3	negative regulation of gene expression	GO:0010629	9.93	MDM2 RB1 RBL1 RBL2
4	transcription initiation from RNA polymerase II promoter	GO:0006367	9.91	CCND1 CDK4 E2F2 E2F3
5	regulation of signal transduction by p53 class mediator	GO:1901796	9.88	MDM2 RBBP4 RBBP7 RBBP8
6	G1/S transition of mitotic cell cycle	GO:0000082	9.84	CCND1 CDK4 RB1 RBBP8
7	histone deacetylation	GO:0016575	9.78	ARID4A RBBP4 RBBP7
8	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:0006977	9.77	E2F1 E2F4 MDM2 RBL2 TFDP1
9	positive regulation of cell cycle	GO:0045787	9.76	CCND1 CDK4 MDM2
10	response to steroid hormone	GO:0048545	9.73	CCND1 MDM2 RBBP7
11	negative regulation of G0 to G1 transition	GO:0070317	9.72	E2F1 RBBP4 RBBP7 RBBP8 TFDP1
12	regulation of transcription involved in G1/S transition of mitotic cell cycle	GO:0000083	9.71	E2F1 E2F4 RB1 TFDP1
13	negative regulation of cell cycle arrest	GO:0071157	9.7	CCND1 CDK4 MDM2
14	regulation of G1/S transition of mitotic cell cycle	GO:2000045	9.65	CCND1 E2F1
15	response to magnesium ion	GO:0032026	9.64	CCND1 MDM2
16	regulation of insulin receptor signaling pathway	GO:0046626	9.64	CCND3 CDK4
17	negative regulation of fat cell proliferation	GO:0070345	9.63	E2F1 E2F3 TFDP1
18	cell cycle checkpoint	GO:0000075	9.62	RB1 RBBP8
19	regulation of lipid kinase activity	GO:0043550	9.61	RB1 RBL1 RBL2
20	regulation of cell cycle	GO:0051726	9.61	CCND1 CCND3 CDK4 E2F1 E2F2 RB1
21	cellular response to xenobiotic stimulus	GO:0071466	9.6	E2F1 RB1
22	lens fiber cell apoptotic process	GO:1990086	9.59	E2F1 E2F2
23	negative regulation of transcription involved in G1/S transition of mitotic cell cycle	GO:0071930	9.55	E2F1 RB1
24	cell cycle	GO:0007049	9.44	CCND1 CCND3 CDK4 E2F1 E2F2 E2F3
25	positive regulation of transcription by RNA polymerase II	GO:0045944	10.13	ARID4A E2F1 E2F2 E2F3 E2F4 PRDM2
26	regulation of transcription, DNA-templated	GO:0006355	10.13	ARID4A CCND1 DDX1 E2F1 E2F2 E2F3
27	negative regulation of transcription by RNA polymerase II	GO:0000122	10.1	CCND1 CCND3 E2F1 MDM2 RB1 RBBP7
28	negative regulation of transcription, DNA-templated	GO:0045892	10.05	ARID4A E2F1 MDM2 RB1 RBBP7
29	regulation of transcription by RNA polymerase II	GO:0006357	10.04	ARID4A RB1 RBBP8 RBL1 RBL2 TFDP1
30	transcription, DNA-templated	GO:0006351	10.03	ARID4A CCND1 DDX1 E2F1 E2F2 E2F3
31	cell division	GO:0051301	10.02	CCND1 CCND3 CDK4 RB1 RBBP8

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding transcription factor activity	GO:0003700	9.92	ARID4A E2F1 E2F2 E2F3 E2F4 PRDM2
2	RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	9.8	E2F2 E2F3 PRDM2 TFDP1
3	protein dimerization activity	GO:0046983	9.78	E2F1 E2F2 E2F3 E2F4
4	histone deacetylase activity	GO:0004407	9.63	ARID4A RBBP4 RBBP7
5	promoter-specific chromatin binding	GO:1990841	9.58	E2F4 RBL1 RBL2
6	cyclin-dependent protein serine/threonine kinase activity	GO:0004693	9.54	CCND1 CCND3 CDK4
7	cyclin-dependent protein serine/threonine kinase regulator activity	GO:0016538	9.51	CCND1 CDK4
8	core promoter binding	GO:0001047	9.46	E2F1 E2F2 E2F3 RB1
9	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding	GO:0001228	9.35	E2F2 E2F3 E2F4 PRDM2 TFDP1
10	transcription factor binding	GO:0008134	9.17	CCND1 E2F1 E2F2 E2F4 RB1 RBL1
11	protein binding	GO:0005515	10.39	CCND1 CCND3 CDK4 DDX1 E2F1 E2F2
12	DNA binding	GO:0003677	10	ARID4A DDX1 E2F1 E2F2 E2F3 E2F4

Sources

Sources for Retinoblastoma

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

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia

Retinoblastoma

Aliases & Classifications for Retinoblastoma

MalaCards integrated aliases for Retinoblastoma:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Retinoblastoma

Related Diseases for Retinoblastoma

Diseases in the Retinoblastoma family:

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

Graphical network of the top 20 diseases related to Retinoblastoma:

Symptoms & Phenotypes for Retinoblastoma

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Retinoblastoma:

GenomeRNAi Phenotypes related to Retinoblastoma according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Retinoblastoma:

Drugs & Therapeutics for Retinoblastoma

FDA approved drugs:

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

Interventional clinical trials:

Inferred drug relations via UMLS 69 / NDF-RT 47 :

Genetic Tests for Retinoblastoma

Genetic tests related to Retinoblastoma:

Anatomical Context for Retinoblastoma

MalaCards organs/tissues related to Retinoblastoma:

Publications for Retinoblastoma

Articles related to Retinoblastoma:

Genes for Retinoblastoma

Genes/enhancers related to Retinoblastoma (1 elite genes):

Variations for Retinoblastoma

UniProtKB/Swiss-Prot genetic disease variations for Retinoblastoma:

ClinVar genetic disease variations for Retinoblastoma:

Cosmic variations for Retinoblastoma:

Copy number variations for Retinoblastoma from CNVD:

Expression for Retinoblastoma

Pathways for Retinoblastoma

Pathways related to Retinoblastoma according to KEGG:

Pathways related to Retinoblastoma according to GeneCards Suite gene sharing:

GO Terms for Retinoblastoma

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

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

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

Sources for Retinoblastoma

Inferred drug relations via UMLS ⁶⁹ / NDF-RT ⁴⁷ :