Retinal Cancer disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: RTN015 MIFTS: 48	Retinal Cancer Categories: Cancer diseases, Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Retinal Cancer

MalaCards integrated aliases for Retinal Cancer:

Name: Retinal Cancer ¹² ¹⁵ ¹⁷

Malignant Neoplasm of Retina ¹² ⁷¹

Retinal Neoplasms ⁴³ ⁷¹

Malignant Retinal Neoplasm ¹²

Malignant Tumor of Retina ¹²

Neoplasm of Retina ¹²

Retinal Neoplasm ¹⁷

Retinal Tumor ¹²

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

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

Malignant neoplasm of eye and adnexa

Malignant neoplasm: Retina

External Ids:

Disease Ontology ¹² DOID:4645

ICD9CM ³⁴ 190.5

MeSH ⁴³ D019572

NCIt ⁴⁹ C3216 C4800

SNOMED-CT ⁶⁷ 127002001 363465007

ICD10 ³² C69.2

EFO ¹⁷ EFO_0005716 EFO_1000509

UMLS ⁷¹ C0024622 C0524801

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Summaries for Retinal Cancer

MalaCards based summary : Retinal Cancer, also known as malignant neoplasm of retina, is related to retinoblastoma and familial retinoblastoma. An important gene associated with Retinal Cancer is H2AC18 (H2A Clustered Histone 18), and among its related pathways/superpathways are ERK Signaling and Cell Cycle, Mitotic. The drugs Vincristine and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are cellular and cardiovascular system

Wikipedia : ⁷⁴ Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina,... more...

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Related Diseases for Retinal Cancer

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

(show top 50) (show all 328)

#	Related Disease	Score	Top Affiliating Genes
1	retinoblastoma	32.9	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
2	familial retinoblastoma	30.5	TP53 RBL1 RB1 E2F4 CDKN2A CDK4
3	retinal vascular disease	30.4	MIR199A1 H2AC18 CRYAA
4	osteogenic sarcoma	30.4	TP53 RB1 E2F4 E2F1 CDKN2A CDK4
5	vulvar adenocarcinoma	10.8	TP53 RB1
6	esophageal leukoplakia	10.8	TP53 CCND1
7	urinary bladder inverted papilloma	10.8	RB1 CDKN2A
8	ring chromosome 7	10.8	TP53 CDK4
9	cecal benign neoplasm	10.8	RBL1 CDKN2A CDK2
10	cecum adenoma	10.8	RBL1 CDKN2A CDK2
11	mediastinum liposarcoma	10.8	CDKN2A CDK4
12	anal squamous cell carcinoma	10.8	TP53 CDKN2A APC
13	brain stem cancer	10.8	TP53 KDM4C H2AC18
14	peritoneum cancer	10.8	TP53 H2AC18 CDKN2A
15	esophagus verrucous carcinoma	10.8	TP53 CDKN2A CCND1
16	anus cancer	10.8	TP53 H2AC18 CDKN2A
17	suppressor of tumorigenicity 3	10.8	TP53 RB1 CDKN2A
18	heart valve disease	10.8	MIR675 MIR199A1 MIR17 H2AC18
19	bone osteosarcoma	10.8	TP53 H2AC18 CDK4
20	cardiovascular organ benign neoplasm	10.8	TP53 KDM4C H2AC18 APC
21	fibrillary astrocytoma	10.8	TP53 KDM4C H2AC18 CDKN2A
22	uterus carcinoma in situ	10.8	TP53 RB1 CDKN2A
23	richter's syndrome	10.8	TP53 MIR17 MIR125A
24	cervix uteri carcinoma in situ	10.8	TP53 RB1 CDKN2A
25	bone squamous cell carcinoma	10.8	TP53 CDKN2A CCND1
26	anogenital venereal wart	10.7	TP53 H2AC18 CDKN2A
27	testicular disease	10.7	TP53 MIR199A1 KDM4C H2AC18
28	connective tissue benign neoplasm	10.7	TP53 H2AC18 CDK4
29	thyroid gland follicular carcinoma	10.7	TP53 MIR199A1 MIR17
30	endocrine organ benign neoplasm	10.7	TP53 MIR199A1 KDM4C H2AC18
31	laryngeal benign neoplasm	10.7	TP53 CDKN2A CCND1
32	serous cystadenocarcinoma	10.7	TP53 MIR199A1 CDKN2A
33	prostate squamous cell carcinoma	10.7	TP53 CDKN2A
34	tonsil cancer	10.7	TP53 MIR199A1 H2AC18 CDKN2A
35	pleural cancer	10.7	TP53 MIR17 H2AC18 CDKN2A
36	gliomatosis cerebri	10.7	TP53 RB1 KDM4C CDKN2A
37	inverted papilloma	10.7	TP53 CDKN2A CCND1
38	hereditary melanoma	10.7	CDKN2A CDK4
39	adenoma	10.7	TP53 CDKN2A CCND1 APC
40	skeletal muscle cancer	10.7	TP53 MIR675 MIR199A1 H2AC18 CDK4
41	fetal alcohol spectrum disorder	10.7	MIR9-1 KDM4C H2AC18
42	central nervous system benign neoplasm	10.7	TP53 MIRLET7B KDM4C H2AC18
43	hyperplastic polyposis syndrome	10.7	TP53 APC
44	fetal alcohol syndrome	10.7	MIR9-1 KDM4C H2AC18
45	nodular malignant melanoma	10.7	TP53 CDKN2A CDK4 CCND1
46	colonic benign neoplasm	10.7	TP53 KDM4C H2AC18 CCND1 APC
47	pancreatic foamy gland adenocarcinoma	10.7	TP53 CCND1
48	vulvar intraepithelial neoplasia	10.7	TP53 CDKN2A
49	retinitis pigmentosa 11	10.7	TP53 KDM4C H2AC18 CDKN2A
50	bone inflammation disease	10.7	MIR675 MIR199A1 MIR17 MIR125A H2AC18

Graphical network of the top 20 diseases related to Retinal Cancer:

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Symptoms & Phenotypes for Retinal Cancer

MGI Mouse Phenotypes related to Retinal Cancer:

⁴⁵ (show all 15)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.28	APC CCND1 CDK2 CDK4 CDKN2A E2F1
2	cardiovascular system	MP:0005385	10.25	APC CCND1 CDK2 CDK4 CDKN2A E2F1
3	endocrine/exocrine gland	MP:0005379	10.22	APC CCND1 CDK2 CDK4 CDKN2A E2F1
4	hematopoietic system	MP:0005397	10.17	APC CCND1 CDK2 CDK4 CDKN2A E2F1
5	digestive/alimentary	MP:0005381	10.16	APC CCND1 CDK4 CDKN2A E2F1 E2F4
6	embryo	MP:0005380	10.15	APC CDK2 CDK4 CDKN2A E2F1 E2F4
7	immune system	MP:0005387	10.14	APC CCND1 CDK2 CDK4 CDKN2A E2F1
8	craniofacial	MP:0005382	10.13	APC CCND1 CDK4 E2F1 E2F4 RB1
9	integument	MP:0010771	10.11	APC CCND1 CDK2 CDK4 CDKN2A E2F1
10	neoplasm	MP:0002006	10	APC CCND1 CDK2 CDK4 CDKN2A E2F1
11	hearing/vestibular/ear	MP:0005377	9.93	APC E2F1 E2F4 RB1 RBL1 TP53
12	muscle	MP:0005369	9.92	APC CDK2 CDK4 CDKN2A E2F1 RB1
13	reproductive system	MP:0005389	9.65	APC CCND1 CDK2 CDK4 CDKN2A E2F1
14	pigmentation	MP:0001186	9.55	APC CDK4 CDKN2A RB1 TP53
15	vision/eye	MP:0005391	9.28	APC CCND1 CDK2 CDK4 CDKN2A E2F1

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Drugs & Therapeutics for Retinal Cancer

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

(show all 21)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Vincristine

Approved, Investigational

Phase 3

57-22-7, 2068-78-2

5978

Carboplatin

Approved

Phase 3

41575-94-4

10339178 38904 498142

Etoposide

Approved

Phase 3

33419-42-0

36462

Topotecan

Approved, Investigational

Phase 3

123948-87-8, 119413-54-6

60700

Doxorubicin

Approved, Investigational

Phase 3

23214-92-8

31703

Mesna

Approved, Investigational

Phase 3

3375-50-6

598

Lenograstim

Approved, Investigational

Phase 3

135968-09-1

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

Etoposide phosphate

Phase 3

Immunologic Factors

Phase 3

Immunosuppressive Agents

Phase 3

Alkylating Agents

Phase 3

Tubulin Modulators

Phase 3

Antimitotic Agents

Phase 3

topoisomerase I inhibitors

Phase 3

Antibiotics, Antitubercular

Phase 3

Liposomal doxorubicin

Phase 3

31703

Anesthetics

Phase 3

Antirheumatic Agents

Phase 3

Anti-Bacterial Agents

Phase 3

Melphalan

Approved

Phase 2

148-82-3

460612 4053

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Protocol for the Study and Treatment of Patients With Intraocular Retinoblastoma	Active, not recruiting	NCT00186888	Phase 3	Vincristine, Carboplatin;Vincristine and Topotecan;Vincristine + Carboplatin + Etoposide;vincristine, cyclophosphamide, and doxorubicin;Vincristine, Carboplatin and Etoposide
2	Chemotherapy Plus Local Surgical Treatment in Children With Intraocular Germ-Line Retinoblastoma	Unknown status	NCT00179920	Phase 2	Carboplatin;VP-16
3	Conservative Treatments of Retinoblastoma	Recruiting	NCT02866136	Phase 2	VP16, carboplatin;Melphalan;VP16, carboplatin, vincristin;Carboplatin + laser day 1 (chemothermotherapy);intravitreal Melphalan (local treatment)
4	Phase I Sustained-Release Topotecan Episcleral Plaque (Chemoplaque) for Retinoblastoma	Not yet recruiting	NCT04428879	Phase 1	Topotecan Episcleral Plaque
5	Use of Eylea for the Treatment of an Optic Nerve Hemangioma	No longer available	NCT01714115		Aflibercept

Search NIH Clinical Center for Retinal Cancer

Cochrane evidence based reviews: retinal neoplasms

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Genetic Tests for Retinal Cancer

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Anatomical Context for Retinal Cancer

MalaCards organs/tissues related to Retinal Cancer:

⁴⁰

Retina, Eye, Brain, Lung

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Publications for Retinal Cancer

Articles related to Retinal Cancer:

(show all 15)

#	Title	Authors	PMID	Year
1	Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients. ⁶¹	Salama Y...Kim RH	31368132	2019
2	Regulation of mitotic cytoskeleton dynamics and cytokinesis by integrin-linked kinase in retinoblastoma cells. ⁶¹	Sikkema WK...Mills J	24911651	2014
3	Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. ⁶¹	Rushlow DE...Gallie BL	23498719	2013
4	Maintenance of retinal cancer stem cell-like properties through long-term serum-free culture from human retinoblastoma. ⁶¹	Ma B...Qian J	21573498	2011
5	Vascular Recruitment of Human Retinoblastoma Cells by Multi-Cellular Adhesive Interactions with Circulating Leukocytes. ⁶¹	Geng Y...King MR	25110524	2010
6	von Hippel-Lindau tumor suppressor mutants faithfully model pathological hypoxia-driven angiogenesis and vascular retinopathies in zebrafish. ⁶¹	van Rooijen E...Schulte-Merker S	20335444	2010
7	Are patients with down syndrome predisposed to retinal neoplasms? ⁶¹	Satge D	19941422	2009
8	Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. ⁶¹	Shields JA...Marr BP	15747752	2004
9	Cancer-associated retinopathy during treatment for small-cell lung carcinoma. ⁶¹	Kashiwabara K...Matsuoka T	10435368	1999
10	Developmental basis of retinal-specific induction of cancer by RB mutation. ⁶¹	Gallie BL...Squire JA	10197588	1999
11	Ocular manifestations of various systemic disorders. ⁶¹	Mansour AM	10150822	1994
12	Intraperitoneal cultivation of small-cell carcinoma induces expression of the retinal cancer-associated retinopathy antigen. ⁶¹	Thirkill CE...Keltner JL	8392328	1993
13	Management and monitoring of cancer-associated retinopathy. ⁶¹	Keltner JL...Roth AM	1310001	1992
14	Retinal tumor induction by ocular inoculation of human adneovirus in 3-day-old rats. ⁶¹	Mukai N...Murao T	1117320	1975
15	[Bilateral retinal cancer in 2 female twins]. ⁶¹	Baron A...Legent O	5383904	1969

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Genes for Retinal Cancer

Genes related to Retinal Cancer (0 elite genes):

(show top 50) (show all 68)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	H2AC18	H2A Clustered Histone 18	Protein Coding	11.61	DISEASES inferred ¹⁵ ¹⁵
2	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	10.39	DISEASES inferred ¹⁵ ¹⁵
3	MIR17	MicroRNA 17	RNA Gene	10.36	DISEASES inferred ¹⁵ ¹⁵
4	MIR675	MicroRNA 675	RNA Gene	10.06	DISEASES inferred ¹⁵ ¹⁵
5	KDM4C	Lysine Demethylase 4C	Protein Coding	9.59	DISEASES inferred ¹⁵ ¹⁵
6	MIR199A1	MicroRNA 199a-1	RNA Gene	9.54	DISEASES inferred ¹⁵ ¹⁵
7	CDK4	Cyclin Dependent Kinase 4	Protein Coding	9.54	DISEASES inferred ¹⁵
8	MIR125A	MicroRNA 125a	RNA Gene	9.48	DISEASES inferred ¹⁵ ¹⁵
9	RBL1	RB Transcriptional Corepressor Like 1	Protein Coding	9.44	DISEASES inferred ¹⁵
10	RB1	RB Transcriptional Corepressor 1	Protein Coding	9.38	DISEASES inferred ¹⁵
11	TP53	Tumor Protein P53	Protein Coding	9.3	DISEASES inferred ¹⁵
12	CRYAA	Crystallin Alpha A	Protein Coding	9.26	DISEASES inferred ¹⁵ ¹⁵
13	CDK2	Cyclin Dependent Kinase 2	Protein Coding	9.19	DISEASES inferred ¹⁵
14	CCND1	Cyclin D1	Protein Coding	9.08	DISEASES inferred ¹⁵
15	MIR9-1	MicroRNA 9-1	RNA Gene	9.01	DISEASES inferred ¹⁵ ¹⁵
16	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	9	DISEASES inferred ¹⁵
17	E2F4	E2F Transcription Factor 4	Protein Coding	9	DISEASES inferred ¹⁵
18	MIRLET7B	MicroRNA Let-7b	RNA Gene	8.98	DISEASES inferred ¹⁵ ¹⁵
19	E2F1	E2F Transcription Factor 1	Protein Coding	8.98	DISEASES inferred ¹⁵
20	MIR373	MicroRNA 373	RNA Gene	8.96	DISEASES inferred ¹⁵ ¹⁵
21	CDK6	Cyclin Dependent Kinase 6	Protein Coding	8.93	DISEASES inferred ¹⁵
22	TCHP	Trichoplein Keratin Filament Binding	Protein Coding	8.84	DISEASES inferred ¹⁵
23	E2F5	E2F Transcription Factor 5	Protein Coding	8.83	DISEASES inferred ¹⁵
24	E2F2	E2F Transcription Factor 2	Protein Coding	8.81	DISEASES inferred ¹⁵
25	E2F8	E2F Transcription Factor 8	Protein Coding	8.79	DISEASES inferred ¹⁵
26	E2F6	E2F Transcription Factor 6	Protein Coding	8.78	DISEASES inferred ¹⁵
27	E2F7	E2F Transcription Factor 7	Protein Coding	8.77	DISEASES inferred ¹⁵
28	E2F3	E2F Transcription Factor 3	Protein Coding	8.76	DISEASES inferred ¹⁵
29	CCNA2	Cyclin A2	Protein Coding	8.69	DISEASES inferred ¹⁵
30	MIR142	MicroRNA 142	RNA Gene	8.67	DISEASES inferred ¹⁵ ¹⁵
31	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	8.66	DISEASES inferred ¹⁵
32	MIR106A	MicroRNA 106a	RNA Gene	8.62	DISEASES inferred ¹⁵ ¹⁵
33	MIR204	MicroRNA 204	RNA Gene	8.58	DISEASES inferred ¹⁵ ¹⁵
34	MIR200A	MicroRNA 200a	RNA Gene	8.4	DISEASES inferred ¹⁵ ¹⁵
35	MIR193A	MicroRNA 193a	RNA Gene	8.4	DISEASES inferred ¹⁵ ¹⁵
36	MIR214	MicroRNA 214	RNA Gene	8.31	DISEASES inferred ¹⁵ ¹⁵
37	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	8.27	DISEASES inferred ¹⁵
38	MIR196A1	MicroRNA 196a-1	RNA Gene	8.25	DISEASES inferred ¹⁵ ¹⁵
39	RBL2	RB Transcriptional Corepressor Like 2	Protein Coding	8.19	DISEASES inferred ¹⁵
40	MIR365A	MicroRNA 365a	RNA Gene	8.17	DISEASES inferred ¹⁵ ¹⁵
41	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	8.16	DISEASES inferred ¹⁵
42	MDM2	MDM2 Proto-Oncogene	Protein Coding	8.13	DISEASES inferred ¹⁵
43	MIR491	MicroRNA 491	RNA Gene	8.1	DISEASES inferred ¹⁵ ¹⁵
44	MIR483	MicroRNA 483	RNA Gene	8.02	DISEASES inferred ¹⁵ ¹⁵
45	MIR361	MicroRNA 361	RNA Gene	8.01	DISEASES inferred ¹⁵ ¹⁵
46	CDKN3	Cyclin Dependent Kinase Inhibitor 3	Protein Coding	8	DISEASES inferred ¹⁵
47	CDK1	Cyclin Dependent Kinase 1	Protein Coding	7.93	DISEASES inferred ¹⁵
48	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	7.84	DISEASES inferred ¹⁵
49	MIR486-1	MicroRNA 486-1	RNA Gene	7.75	DISEASES inferred ¹⁵ ¹⁵
50	CCND3	Cyclin D3	Protein Coding	7.72	DISEASES inferred ¹⁵

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Variations for Retinal Cancer

Cosmic variations for Retinal Cancer:

⁹ (show all 49)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM86647435	RB1	eye,retina,retinoblastoma,NS	c.2106+2T>G	p.?	13:48459835-48459835	3
2	COSM86634466	RB1	eye,retina,retinoblastoma,NS	c.380+1G>T	p.?	13:48342715-48342715	3
3	COSM86624550	RB1	eye,retina,retinoblastoma,NS	c.1333C>T	p.R445*	13:48379594-48379594	3
4	COSM86651352	RB1	eye,retina,retinoblastoma,NS	c.1421G>A	p.S474N	13:48380084-48380084	3
5	COSM86624126	RB1	eye,retina,retinoblastoma,NS	c.751C>T	p.R251*	13:48362847-48362847	3
6	COSM86624950	RB1	eye,retina,retinoblastoma,NS	c.1183C>T	p.Q395*	13:48373460-48373460	3
7	COSM86626226	RB1	eye,retina,retinoblastoma,NS	c.958C>T	p.R320*	13:48367512-48367512	3
8	COSM86647609	RB1	eye,retina,retinoblastoma,NS	c.1960+2T>C	p.?	13:48456351-48456351	3
9	COSM86625405	RB1	eye,retina,retinoblastoma,NS	c.1666C>T	p.R556*	13:48381414-48381414	3
10	COSM86626205	RB1	eye,retina,retinoblastoma,NS	c.1363C>T	p.R455*	13:48379624-48379624	3
11	COSM86628490	RB1	eye,retina,retinoblastoma,NS	c.763C>T	p.R255*	13:48362859-48362859	3
12	COSM86642443	RB1	eye,retina,retinoblastoma,NS	c.2527G>T	p.E843*	13:48476707-48476707	3
13	COSM86636835	RB1	eye,retina,retinoblastoma,NS	c.2326-2A>C	p.?	13:48465203-48465203	3
14	COSM86633737	RB1	eye,retina,retinoblastoma,NS	c.967G>T	p.E323*	13:48367521-48367521	3
15	COSM86624252	RB1	eye,retina,retinoblastoma,NS	c.1215+1G>A	p.?	13:48373493-48373493	3
16	COSM86631349	RB1	eye,retina,retinoblastoma,NS	c.2158A>T	p.K720*	13:48463782-48463782	3
17	COSM86627680	RB1	eye,retina,retinoblastoma,NS	c.1166T>A	p.L389*	13:48373443-48373443	3
18	COSM86638492	RB1	eye,retina,retinoblastoma,NS	c.1216-2A>G	p.?	13:48376916-48376916	3
19	COSM86629052	RB1	eye,retina,retinoblastoma,NS	c.1961-1G>A	p.?	13:48459687-48459687	3
20	COSM86640644	RB1	eye,retina,retinoblastoma,NS	c.1467C>A	p.C489*	13:48380210-48380210	3
21	COSM86635450	RB1	eye,retina,retinoblastoma,NS	c.2053C>T	p.Q685*	13:48459780-48459780	3
22	COSM86637950	RB1	eye,retina,retinoblastoma,NS	c.265-2A>C	p.?	13:48342597-48342597	3
23	COSM86629160	RB1	eye,retina,retinoblastoma,NS	c.409G>T	p.E137*	13:48345108-48345108	3
24	COSM86624395	RB1	eye,retina,retinoblastoma,NS	c.2520+4A>G	p.?	13:48473394-48473394	3
25	COSM86640590	RB1	eye,retina,retinoblastoma,NS	c.1891C>T	p.Q631*	13:48456280-48456280	3
26	COSM86656361	RB1	eye,retina,retinoblastoma,NS	c.982A>C	p.N328H	13:48367536-48367536	3
27	COSM86630951	RB1	eye,retina,retinoblastoma,NS	c.1654C>T	p.R552*	13:48381402-48381402	3
28	COSM86631559	RB1	eye,retina,retinoblastoma,NS	c.1049+1G>T	p.?	13:48367604-48367604	3
29	COSM86632900	RB1	eye,retina,retinoblastoma,NS	c.2063T>C	p.L688P	13:48459790-48459790	3
30	COSM86649095	RB1	eye,retina,retinoblastoma,NS	c.2106+1G>T	p.?	13:48459834-48459834	3
31	COSM86626876	RB1	eye,retina,retinoblastoma,NS	c.2206C>T	p.Q736*	13:48463830-48463830	3
32	COSM86637333	RB1	eye,retina,retinoblastoma,NS	c.341C>A	p.S114*	13:48342675-48342675	3
33	COSM86632739	RB1	eye,retina,retinoblastoma,NS	c.1960+1G>A	p.?	13:48456350-48456350	3
34	COSM86630352	RB1	eye,retina,retinoblastoma,NS	c.862-5T>G	p.?	13:48364889-48364889	3
35	COSM86632080	RB1	eye,retina,retinoblastoma,NS	c.160G>T	p.E54*	13:48307302-48307302	3
36	COSM86654450	RB1	eye,retina,retinoblastoma,NS	c.2152G>A	p.D718N	13:48463776-48463776	3
37	COSM86640621	RB1	eye,retina,retinoblastoma,NS	c.1389+1G>C	p.?	13:48379651-48379651	3
38	COSM86648958	RB1	eye,retina,retinoblastoma,NS	c.1494T>A	p.Y498*	13:48380237-48380237	3
39	COSM87132285	PIK3CA	eye,retina,retinoblastoma,NS	c.1634A>G	p.E545G	3:179218304-179218304	3
40	COSM87804005	KRAS	eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	12:25245350-25245350	3
41	COSM87804055	KRAS	eye,retina,retinoblastoma,NS	c.35G>T	p.G12V	12:25245350-25245350	3
42	COSM91859716		eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	12:25245350-25245350	3
43	COSM134990158		eye,retina,retinoblastoma,NS	c.35G>T	p.G12V	12:25245350-25245350	3
44	COSM134614922		eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	12:25245350-25245350	3
45	COSM134990112		eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	12:25245350-25245350	3
46	COSM148932691		eye,retina,retinoblastoma,NS	c.1634A>G	p.E545G	3:179218304-179218304	3
47	COSM134614978		eye,retina,retinoblastoma,NS	c.35G>T	p.G12V	12:25245350-25245350	3
48	COSM150688162		eye,retina,retinoblastoma,NS	c.160G>T	p.E54*	13:48307302-48307302	3
49	COSM91859752		eye,retina,retinoblastoma,NS	c.35G>T	p.G12V	12:25245350-25245350	3

Sources

Expression for Retinal Cancer

Search GEO for disease gene expression data for Retinal Cancer.

Sources

Pathways for Retinal Cancer

Pathways related to Retinal Cancer according to GeneCards Suite gene sharing:

(show top 50) (show all 62)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.88	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
2	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	13.52	TP53 RBL1 RB1 H2AC18 E2F4 E2F1
3	Cellular Senescence (REACTOME) ⁶⁵ Show member pathways Cellular Senescence ⁶⁵ Oxidative Stress Induced Senescence ⁶⁵ Senescence-Associated Secretory Phenotype (SASP) ⁶⁵	13.19	TP53 RB1 H2AC18 E2F1 CDKN2A CDK4
4	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	13.1	TP53 RBL1 RB1 E2F1 CDK4 CDK2
5	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Regulation of toll-like receptor signaling pathway ¹	13.09	TP53 RB1 E2F1 CDK4 CDK2 CCND1
6	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	13.01	TP53 RBL1 E2F4 E2F1 CDKN2A CDK2
7	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.99	RB1 E2F1 CDKN2A CDK4 CDK2 CCND1
8	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.99	TP53 RB1 E2F1 CDKN2A CDK4 CDK2
9	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.98	TP53 RB1 E2F1 CDKN2A CDK4 CCND1
10	Pathways in cancer ³⁶	12.95	TP53 RB1 E2F1 CDKN2A CDK4 CDK2
11	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.88	TP53 RB1 E2F1 CDK4 CDK2 CCND1
12	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.86	TP53 RB1 E2F1 CDKN2A CDK4 CDK2
13	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.79	TP53 RB1 E2F1 CDKN2A CDK4 CDK2
14	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.79	TP53 RBL1 RB1 E2F4 E2F1 CDK4
15	Mitotic G1-G1/S phases ⁶⁵ Show member pathways G1 to S cell cycle control ¹ G1/S Transition ⁶⁵	12.63	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
16	DNA Damage ⁴	12.62	TP53 RB1 E2F1 CDKN2A CDK4 CDK2
17	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.48	RB1 E2F4 E2F1 APC
18	WNT Signaling ⁶³	12.48	TP53 RBL1 RB1 E2F4 E2F1 CDK4
19	Human T-cell leukemia virus 1 infection ³⁶	12.44	TP53 RB1 E2F1 CDKN2A CDK4 CDK2
20	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁶	12.43	TP53 RB1 MIR373 MIR17 E2F1 CDKN2A
21	Viral carcinogenesis ³⁶	12.4	TP53 RBL1 RB1 CDKN2A CDK4 CDK2
22	DNA Damage/Telomere Stress Induced Senescence ⁶⁵ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁵ Packaging Of Telomere Ends ⁶⁵ Signal transduction Activin A signaling regulation ²²	12.37	TP53 RB1 H2AC18 CDK2
23	Cyclins and Cell Cycle Regulation ⁶³ Show member pathways Cell Cycle Control by BTG Proteins ⁶³ Cyclin D associated events in G1 ⁶⁵ G1 Phase ⁶⁵ G1-S Phase Transition ⁶³ Phosphorylation of proteins involved in G1/S transition by active Cyclin E-Cdk2 complexes ⁶⁵	12.37	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
24	MAPK Signaling: Mitogens ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	12.36	TP53 RB1 E2F4 E2F1 CDK4 CDK2
25	p53 Signaling ⁶³ Show member pathways P53 Pathway ⁶⁶	12.34	TP53 RB1 E2F4 E2F1 CDK4 CDK2
26	Cell cycle Role of SCF complex in cell cycle regulation ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Regulation of G1/S transition (part 1) ²² Immune response MIF-JAB1 signaling ²²	12.28	RB1 E2F4 E2F1 CDKN2A CDK4 CDK2
27	Integrated Breast Cancer Pathway ¹	12.26	TP53 RB1 E2F1 CDK4 CDK2 CCND1
28	Colorectal Cancer Metastasis ⁶³	12.23	TP53 E2F4 CCND1 APC
29	Cell cycle ³⁶ ¹	12.21	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
30	TGF-beta Signaling Pathway (WikiPathways) ¹	12.13	TP53 RBL1 E2F4 CCND1
31	Spinal Cord Injury ¹	12.13	TP53 RB1 E2F1 CDK4 CDK2 CCND1
32	Adipogenesis ¹	12.12	RBL1 RB1 E2F4 E2F1
33	Cellular senescence (KEGG) ³⁶	12.1	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
34	DNA Damage Response (only ATM dependent) ¹	12.06	TP53 CDKN2A CCND1 APC
35	TP53 Regulates Transcription of Cell Cycle Genes ⁶⁵ Show member pathways TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain ⁶⁵ TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest ⁶⁵ TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest ⁶⁵	12.06	TP53 RBL1 E2F4 E2F1 CDK2
36	Senescence and Autophagy in Cancer ¹	12.02	TP53 RB1 E2F1 CDKN2A
37	Small cell lung cancer ³⁶	11.98	TP53 RB1 E2F1 CDK4 CDK2 CCND1
38	Retinoblastoma (RB) in Cancer ¹	11.93	TP53 RB1 E2F1 CDK4 CDK2 CCND1
39	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.91	TP53 RB1 E2F4 E2F1
40	E2F transcription factor network ¹	11.88	RBL1 RB1 E2F4 E2F1 CDK2
41	MicroRNAs in cancer ³⁶	11.85	TP53 MIRLET7B MIR9-1 MIR373 MIR199A1 MIR17
42	Human Thyroid Stimulating Hormone (TSH) signaling pathway ¹	11.82	RB1 E2F1 CDK4 CDK2
43	Bladder cancer ³⁶ ¹	11.82	TP53 RB1 E2F1 CDKN2A CDK4 CCND1
44	Transcription_P53 signaling pathway ²²	11.81	TP53 RB1 E2F1 CDKN2A CDK2
45	Cell cycle Cell cycle (generic schema) ²² Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²² G0 and Early G1 ⁶⁵ G2 Phase ⁶⁵	11.8	RBL1 RB1 E2F4 E2F1 CDK4 CDK2
46	Regulation of nuclear SMAD2/3 signaling ¹	11.79	RBL1 CDK4 CDK2
47	Regulation of TP53 Expression and Degradation ⁶⁵ Show member pathways Regulation of TP53 Degradation ⁶⁵ Regulation of TP53 Expression ⁶⁵	11.77	TP53 CDKN2A CDK2
48	Photodynamic therapy-induced AP-1 survival signaling. ¹	11.68	TP53 RB1 CDKN2A CCND1
49	miRNAs involved in DNA damage response ¹	11.67	TP53 MIR373 E2F1 CCND1
50	Regulation of retinoblastoma protein ¹	11.65	RB1 E2F4 CDK2

Sources

GO Terms for Retinal Cancer

Cellular components related to Retinal Cancer according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.17	TP53 RBL1 RB1 MIR9-1 KDM4C H2AC18
2	nucleoplasm	GO:0005654	10.03	TP53 RBL1 RB1 KDM4C E2F4 E2F1
3	cyclin-dependent protein kinase holoenzyme complex	GO:0000307	9.33	CDK4 CDK2 CCND1
4	transcription factor complex	GO:0005667	9.17	TP53 RBL1 RB1 E2F4 E2F1 CDK4
5	Rb-E2F complex	GO:0035189	8.96	RB1 E2F1

Biological processes related to Retinal Cancer according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription by RNA polymerase II	GO:0000122	10.02	TP53 RBL1 RB1 E2F4 E2F1 CDK2
2	positive regulation of gene expression	GO:0010628	9.99	TP53 MIR125A KDM4C E2F1 CDKN2A
3	negative regulation of cell proliferation	GO:0008285	9.98	TP53 RB1 MIR9-1 CDKN2A APC
4	positive regulation of apoptotic process	GO:0043065	9.96	TP53 E2F1 CDKN2A CDK4 APC
5	gene silencing by miRNA	GO:0035195	9.95	MIRLET7B MIR9-1 MIR675 MIR373 MIR199A1 MIR17
6	negative regulation of gene expression	GO:0010629	9.91	TP53 RBL1 RB1 MIR17 MIR125A
7	cell cycle arrest	GO:0007050	9.83	TP53 RB1 CDKN2A APC
8	Ras protein signal transduction	GO:0007265	9.76	TP53 RB1 CDKN2A CDK2
9	negative regulation of G1/S transition of mitotic cell cycle	GO:2000134	9.73	RBL1 RB1 CDKN2A CDK4
10	positive regulation of fibroblast proliferation	GO:0048146	9.72	MIR17 E2F1 CDK4
11	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:0006977	9.67	TP53 E2F4 E2F1 CDK2
12	G1/S transition of mitotic cell cycle	GO:0000082	9.65	RB1 CDKN2A CDK4 CDK2 CCND1
13	replicative senescence	GO:0090399	9.61	TP53 CDKN2A
14	cell cycle	GO:0007049	9.61	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
15	positive regulation of cardiac muscle hypertrophy in response to stress	GO:1903244	9.6	MIR199A1 MIR17
16	cellular response to xenobiotic stimulus	GO:0071466	9.58	RB1 E2F1
17	re-entry into mitotic cell cycle	GO:0000320	9.57	MIR199A1 CCND1
18	regulation of lipid kinase activity	GO:0043550	9.54	RBL1 RB1
19	mitotic G1 DNA damage checkpoint	GO:0031571	9.5	TP53 CDK2 CCND1
20	negative regulation of transcription involved in G1/S transition of mitotic cell cycle	GO:0071930	9.49	RB1 E2F1
21	negative regulation of vascular endothelial growth factor production	GO:1904046	9.46	MIR373 MIR199A1 MIR17 MIR125A
22	regulation of cell cycle	GO:0051726	9.23	TP53 RBL1 RB1 E2F4 E2F1 CDK4

Molecular functions related to Retinal Cancer according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:0019901	9.77	TP53 E2F1 CDKN2A CCND1 APC
2	promoter-specific chromatin binding	GO:1990841	9.5	TP53 RBL1 E2F4
3	transcription factor binding	GO:0008134	9.5	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
4	RNA polymerase II regulatory region DNA binding	GO:0001012	9.4	RBL1 RB1
5	disordered domain specific binding	GO:0097718	9.33	TP53 RB1 CDKN2A
6	bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding	GO:0001216	9.26	E2F4 E2F1
7	mRNA binding involved in posttranscriptional gene silencing	GO:1903231	9.17	MIRLET7B MIR9-1 MIR675 MIR373 MIR199A1 MIR17

Sources

Sources for Retinal Cancer

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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¹⁰ dbSNP

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁴ ICD9CM

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⁴¹ MedGen

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia