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

MCID: RTN015 MIFTS: 49	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 ⁷⁰

Retinal Neoplasms ⁴⁴ ⁷⁰

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 ⁴⁴ D019572

NCIt ⁵⁰ C3216 C4800

SNOMED-CT ⁶⁷ 127002001 93987004

ICD10 ³² C69.2

EFO ¹⁷ EFO_0005716 EFO_1000509

UMLS ⁷⁰ 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 retinal vascular disease. 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 Etoposide and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : ⁷³ 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 322)

#	Related Disease	Score	Top Affiliating Genes
1	retinoblastoma	32.1	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
2	retinal vascular disease	30.4	MIR199A1 MIR17 H2AC18 CRYAA
3	osteogenic sarcoma	30.2	TP53 RB1 E2F4 E2F1 CDKN2A CDK4
4	malignant astrocytoma	30.2	TP53 MIR9-1 MIR199A1 MIR17 MIR125A KDM4C
5	vulvar adenocarcinoma	10.6	TP53 RB1
6	esophageal leukoplakia	10.6	TP53 CCND1
7	urinary bladder inverted papilloma	10.6	RB1 CDKN2A
8	ring chromosome 7	10.6	TP53 CDK4
9	cecal benign neoplasm	10.6	RBL1 CDKN2A CDK2
10	cecum adenoma	10.6	RBL1 CDKN2A CDK2
11	mediastinum liposarcoma	10.6	CDKN2A CDK4
12	esophagus verrucous carcinoma	10.6	TP53 CDKN2A CCND1
13	anal squamous cell carcinoma	10.6	TP53 CDKN2A APC
14	suppressor of tumorigenicity 3	10.6	TP53 RB1 CDKN2A
15	peritoneum cancer	10.6	TP53 H2AC18 CDKN2A
16	anus cancer	10.6	TP53 H2AC18 CDKN2A
17	cardiovascular organ benign neoplasm	10.6	TP53 KDM4C H2AC18 APC
18	ischemic fasciitis	10.6	CDKN2A CDK4 CCND1
19	heart valve disease	10.6	MIR675 MIR199A1 MIR17 H2AC18
20	diffuse astrocytoma	10.6	TP53 KDM4C H2AC18
21	skeletal muscle cancer	10.6	TP53 MIR675 MIR199A1 H2AC18
22	b-lymphoblastic leukemia/lymphoma with t	10.6	RB1 APC
23	connective tissue benign neoplasm	10.6	TP53 H2AC18 CDK4
24	uterus carcinoma in situ	10.6	TP53 RB1 CDKN2A
25	bone squamous cell carcinoma	10.6	TP53 CDKN2A CCND1
26	cervix uteri carcinoma in situ	10.6	TP53 RB1 CDKN2A
27	anogenital venereal wart	10.6	TP53 RB1 H2AC18 CDKN2A
28	pancreatic foamy gland adenocarcinoma	10.6	TP53 CCND1
29	testicular disease	10.6	TP53 MIR199A1 KDM4C H2AC18
30	laryngeal benign neoplasm	10.6	TP53 CDKN2A CCND1
31	vulvar intraepithelial neoplasia	10.6	TP53 CDKN2A
32	endocrine organ benign neoplasm	10.6	TP53 MIR199A1 KDM4C H2AC18
33	pleural cancer	10.5	TP53 MIR17 H2AC18 CDKN2A
34	central nervous system benign neoplasm	10.5	TP53 KDM4C H2AC18
35	undifferentiated embryonal sarcoma of the liver	10.5	TP53 CDK4
36	tonsil cancer	10.5	TP53 MIR199A1 H2AC18 CDKN2A
37	ovary adenocarcinoma	10.5	TP53 MIR17 H2AC18 CDKN2A
38	adenoma	10.5	TP53 CDKN2A CCND1 APC
39	fetal alcohol spectrum disorder	10.5	MIR9-1 KDM4C H2AC18
40	gliomatosis cerebri	10.5	TP53 RB1 CDKN2A
41	respiratory system benign neoplasm	10.5	TP53 H2AC18 CDKN2A CCND1
42	pediatric liposarcoma	10.5	TP53 CDK4
43	prostate squamous cell carcinoma	10.5	TP53 CDKN2A CDK6
44	mature t-cell and nk-cell lymphoma	10.5	TP53 MIR199A1 MIR17 KDM4C H2AC18
45	lung adenoma	10.5	TP53 H2AC18 CDKN2A CDK2
46	nodular malignant melanoma	10.5	TP53 CDKN2A CDK4 CCND1
47	fetal alcohol syndrome	10.5	MIR9-1 KDM4C H2AC18
48	autoimmune disease of musculoskeletal system	10.5	MIR199A1 MIR17 MIR125A H2AC18
49	thymus gland disease	10.5	TP53 MIR125A H2AC18
50	chromosomal deletion syndrome	10.5	MIR9-1 MIR17 KDM4C H2AC18

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

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Symptoms & Phenotypes for Retinal Cancer

GenomeRNAi Phenotypes related to Retinal Cancer according to GeneCards Suite gene sharing:

²⁶ (show all 25)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	10.05	APC
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-134	10.05	CCND1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-144	10.05	CDK6
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-150	10.05	KDM4C
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	10.05	CCND1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-156	10.05	CDK6
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	10.05	CDK6
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-172	10.05	RB1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	10.05	RB1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-181	10.05	RB1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	10.05	KDM4C
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-192	10.05	APC
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	10.05	APC
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-209	10.05	KDM4C
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-21	10.05	CCND1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-210	10.05	CCND1 RB1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-211	10.05	CCND1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-36	10.05	CCND1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	10.05	RB1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	10.05	RB1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	10.05	CDK6
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-61	10.05	CDK6
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-72	10.05	KDM4C
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	10.05	CDK6
25	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	9.02	APC CDK2 CDK4 CDK6 RBL1

MGI Mouse Phenotypes related to Retinal Cancer:

⁴⁶ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.3	APC CCND1 CDK2 CDK4 CDK6 CDKN2A
2	cardiovascular system	MP:0005385	10.28	APC CCND1 CDK2 CDK4 CDK6 CDKN2A
3	endocrine/exocrine gland	MP:0005379	10.23	APC CCND1 CDK2 CDK4 CDK6 CDKN2A
4	hematopoietic system	MP:0005397	10.21	APC CCND1 CDK2 CDK4 CDK6 CDKN2A
5	embryo	MP:0005380	10.18	APC CDK2 CDK4 CDK6 CDKN2A E2F1
6	immune system	MP:0005387	10.18	APC CCND1 CDK2 CDK4 CDK6 CDKN2A
7	digestive/alimentary	MP:0005381	10.15	APC CCND1 CDK4 CDKN2A E2F1 E2F4
8	craniofacial	MP:0005382	10.11	APC CCND1 CDK4 E2F1 E2F4 RB1
9	integument	MP:0010771	10.11	APC CCND1 CDK2 CDK4 CDKN2A E2F1
10	neoplasm	MP:0002006	9.93	APC CCND1 CDK2 CDK4 CDK6 CDKN2A
11	liver/biliary system	MP:0005370	9.92	APC CDK2 CDK4 CDK6 CDKN2A RB1
12	muscle	MP:0005369	9.91	APC CDK2 CDK4 CDK6 CDKN2A E2F1
13	reproductive system	MP:0005389	9.7	APC CCND1 CDK2 CDK4 CDK6 CDKN2A
14	vision/eye	MP:0005391	9.32	APC CCND1 CDK2 CDK4 CDK6 CDKN2A

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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

Etoposide

Approved

Phase 3

33419-42-0

36462

Vincristine

Approved, Investigational

Phase 3

2068-78-2, 57-22-7

5978

Carboplatin

Approved

Phase 3

41575-94-4

10339178 498142 38904

Mesna

Approved, Investigational

Phase 3

3375-50-6

598

Topotecan

Approved, Investigational

Phase 3

123948-87-8, 119413-54-6

60700

Doxorubicin

Approved, Investigational

Phase 3

23214-92-8

31703

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

Lenograstim

Approved, Investigational

Phase 3

135968-09-1

Tubulin Modulators

Phase 3

Etoposide phosphate

Phase 3

Antimitotic Agents

Phase 3

Immunosuppressive Agents

Phase 3

Alkylating Agents

Phase 3

Immunologic Factors

Phase 3

Antibiotics, Antitubercular

Phase 3

topoisomerase I inhibitors

Phase 3

Liposomal doxorubicin

Phase 3

31703

Antirheumatic Agents

Phase 3

Anesthetics

Phase 3

Anti-Bacterial Agents

Phase 3

Melphalan

Approved

Phase 2

148-82-3

4053 460612

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	Completed	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)

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

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Publications for Retinal Cancer

Articles related to Retinal Cancer:

(show all 17)

#	Title	Authors	PMID	Year
1	Retinoblastoma: Etiology, Modeling, and Treatment. ⁶¹	Kaewkhaw R...Rojanaporn D	32824373	2020
2	Patient-reported outcome measures for retinoblastoma: a scoping review. ⁶¹	Janic A...Dimaras H	32770435	2020
3	Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients. ⁶¹	Salama Y...Kim RH	31368132	2019
4	Regulation of mitotic cytoskeleton dynamics and cytokinesis by integrin-linked kinase in retinoblastoma cells. ⁶¹	Sikkema WK...Mills J	24911651	2014
5	Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. ⁶¹	Rushlow DE...Gallie BL	23498719	2013
6	Maintenance of retinal cancer stem cell-like properties through long-term serum-free culture from human retinoblastoma. ⁶¹	Ma B...Qian J	21573498	2011
7	Vascular Recruitment of Human Retinoblastoma Cells by Multi-Cellular Adhesive Interactions with Circulating Leukocytes. ⁶¹	Geng Y...King MR	25110524	2010
8	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
9	Are patients with down syndrome predisposed to retinal neoplasms? ⁶¹	Satge D	19941422	2009
10	Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. ⁶¹	Shields JA...Marr BP	15747752	2004
11	Cancer-associated retinopathy during treatment for small-cell lung carcinoma. ⁶¹	Kashiwabara K...Matsuoka T	10435368	1999
12	Developmental basis of retinal-specific induction of cancer by RB mutation. ⁶¹	Gallie BL...Squire JA	10197588	1999
13	Ocular manifestations of various systemic disorders. ⁶¹	Mansour AM	10150822	1994
14	Intraperitoneal cultivation of small-cell carcinoma induces expression of the retinal cancer-associated retinopathy antigen. ⁶¹	Thirkill CE...Keltner JL	8392328	1993
15	Management and monitoring of cancer-associated retinopathy. ⁶¹	Keltner JL...Roth AM	1310001	1992
16	Retinal tumor induction by ocular inoculation of human adneovirus in 3-day-old rats. ⁶¹	Mukai N...Murao T	1117320	1975
17	[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 66)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	H2AC18	H2A Clustered Histone 18	Protein Coding	12.02	DISEASES inferred ¹⁵ ¹⁵
2	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	10.24	DISEASES inferred ¹⁵ ¹⁵
3	MIR17	MicroRNA 17	RNA Gene	10.22	DISEASES inferred ¹⁵ ¹⁵
4	MIR675	MicroRNA 675	RNA Gene	9.89	DISEASES inferred ¹⁵ ¹⁵
5	KDM4C	Lysine Demethylase 4C	Protein Coding	9.55	DISEASES inferred ¹⁵ ¹⁵
6	CDK4	Cyclin Dependent Kinase 4	Protein Coding	9.47	DISEASES inferred ¹⁵
7	RBL1	RB Transcriptional Corepressor Like 1	Protein Coding	9.38	DISEASES inferred ¹⁵
8	MIR199A1	MicroRNA 199a-1	RNA Gene	9.38	DISEASES inferred ¹⁵ ¹⁵
9	MIR125A	MicroRNA 125a	RNA Gene	9.34	DISEASES inferred ¹⁵ ¹⁵
10	RB1	RB Transcriptional Corepressor 1	Protein Coding	9.31	DISEASES inferred ¹⁵
11	TP53	Tumor Protein P53	Protein Coding	9.24	DISEASES inferred ¹⁵
12	CDK2	Cyclin Dependent Kinase 2	Protein Coding	9.15	DISEASES inferred ¹⁵
13	CRYAA	Crystallin Alpha A	Protein Coding	9.14	DISEASES inferred ¹⁵ ¹⁵
14	CCND1	Cyclin D1	Protein Coding	9.01	DISEASES inferred ¹⁵
15	E2F4	E2F Transcription Factor 4	Protein Coding	8.93	DISEASES inferred ¹⁵
16	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	8.93	DISEASES inferred ¹⁵
17	E2F1	E2F Transcription Factor 1	Protein Coding	8.92	DISEASES inferred ¹⁵
18	MIR9-1	MicroRNA 9-1	RNA Gene	8.88	DISEASES inferred ¹⁵ ¹⁵
19	CDK6	Cyclin Dependent Kinase 6	Protein Coding	8.87	DISEASES inferred ¹⁵
20	MIR361	MicroRNA 361	RNA Gene	8.83	DISEASES inferred ¹⁵ ¹⁵
21	MIRLET7B	MicroRNA Let-7b	RNA Gene	8.82	DISEASES inferred ¹⁵ ¹⁵
22	MIR373	MicroRNA 373	RNA Gene	8.81	DISEASES inferred ¹⁵ ¹⁵
23	TCHP	Trichoplein Keratin Filament Binding	Protein Coding	8.78	DISEASES inferred ¹⁵
24	E2F5	E2F Transcription Factor 5	Protein Coding	8.77	DISEASES inferred ¹⁵
25	E2F2	E2F Transcription Factor 2	Protein Coding	8.75	DISEASES inferred ¹⁵
26	E2F8	E2F Transcription Factor 8	Protein Coding	8.73	DISEASES inferred ¹⁵
27	E2F6	E2F Transcription Factor 6	Protein Coding	8.72	DISEASES inferred ¹⁵
28	E2F7	E2F Transcription Factor 7	Protein Coding	8.71	DISEASES inferred ¹⁵
29	MIR365A	MicroRNA 365a	RNA Gene	8.7	DISEASES inferred ¹⁵ ¹⁵
30	E2F3	E2F Transcription Factor 3	Protein Coding	8.69	DISEASES inferred ¹⁵
31	MIR142	MicroRNA 142	RNA Gene	8.64	DISEASES inferred ¹⁵ ¹⁵
32	CCNA2	Cyclin A2	Protein Coding	8.62	DISEASES inferred ¹⁵
33	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	8.59	DISEASES inferred ¹⁵
34	MIR491	MicroRNA 491	RNA Gene	8.41	DISEASES inferred ¹⁵ ¹⁵
35	MIR204	MicroRNA 204	RNA Gene	8.36	DISEASES inferred ¹⁵ ¹⁵
36	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	8.21	DISEASES inferred ¹⁵
37	MIR193A	MicroRNA 193a	RNA Gene	8.21	DISEASES inferred ¹⁵ ¹⁵
38	MIR196A1	MicroRNA 196a-1	RNA Gene	8.14	DISEASES inferred ¹⁵ ¹⁵
39	RBL2	RB Transcriptional Corepressor Like 2	Protein Coding	8.13	DISEASES inferred ¹⁵
40	MIR214	MicroRNA 214	RNA Gene	8.11	DISEASES inferred ¹⁵ ¹⁵
41	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	8.09	DISEASES inferred ¹⁵
42	MDM2	MDM2 Proto-Oncogene	Protein Coding	8.07	DISEASES inferred ¹⁵
43	CDK1	Cyclin Dependent Kinase 1	Protein Coding	7.86	DISEASES inferred ¹⁵
44	MIR483	MicroRNA 483	RNA Gene	7.85	DISEASES inferred ¹⁵ ¹⁵
45	CDKN3	Cyclin Dependent Kinase Inhibitor 3	Protein Coding	7.79	DISEASES inferred ¹⁵
46	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	7.77	DISEASES inferred ¹⁵
47	CCND3	Cyclin D3	Protein Coding	7.65	DISEASES inferred ¹⁵
48	CCND2	Cyclin D2	Protein Coding	7.58	DISEASES inferred ¹⁵
49	MIR486-1	MicroRNA 486-1	RNA Gene	7.58	DISEASES inferred ¹⁵ ¹⁵
50	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	7.56	DISEASES inferred ¹⁵ 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	COSM150688162	RB1	eye,retina,retinoblastoma,NS	c.160G>T	p.E54*	13:48307302-48307302	3
31	COSM86649095	RB1	eye,retina,retinoblastoma,NS	c.2106+1G>T	p.?	13:48459834-48459834	3
32	COSM86626876	RB1	eye,retina,retinoblastoma,NS	c.2206C>T	p.Q736*	13:48463830-48463830	3
33	COSM86637333	RB1	eye,retina,retinoblastoma,NS	c.341C>A	p.S114*	13:48342675-48342675	3
34	COSM86632739	RB1	eye,retina,retinoblastoma,NS	c.1960+1G>A	p.?	13:48456350-48456350	3
35	COSM86630352	RB1	eye,retina,retinoblastoma,NS	c.862-5T>G	p.?	13:48364889-48364889	3
36	COSM86632080	RB1	eye,retina,retinoblastoma,NS	c.160G>T	p.E54*	13:48307302-48307302	3
37	COSM86654450	RB1	eye,retina,retinoblastoma,NS	c.2152G>A	p.D718N	13:48463776-48463776	3
38	COSM86640621	RB1	eye,retina,retinoblastoma,NS	c.1389+1G>C	p.?	13:48379651-48379651	3
39	COSM86648958	RB1	eye,retina,retinoblastoma,NS	c.1494T>A	p.Y498*	13:48380237-48380237	3
40	COSM87132285	PIK3CA	eye,retina,retinoblastoma,NS	c.1634A>G	p.E545G	3:179218304-179218304	3
41	COSM148932691	PIK3CA	eye,retina,retinoblastoma,NS	c.1634A>G	p.E545G	3:179218304-179218304	3
42	COSM91859716	KRAS	eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	12:25245350-25245350	3
43	COSM87804005	KRAS	eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	12:25245350-25245350	3
44	COSM87804055	KRAS	eye,retina,retinoblastoma,NS	c.35G>T	p.G12V	12:25245350-25245350	3
45	COSM134990158	KRAS	eye,retina,retinoblastoma,NS	c.35G>T	p.G12V	12:25245350-25245350	3
46	COSM134614922	KRAS	eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	12:25245350-25245350	3
47	COSM134990112	KRAS	eye,retina,retinoblastoma,NS	c.35G>A	p.G12D	12:25245350-25245350	3
48	COSM134614978	KRAS	eye,retina,retinoblastoma,NS	c.35G>T	p.G12V	12:25245350-25245350	3
49	COSM91859752	KRAS	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 65)

#	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	13.91	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
2	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	13.54	TP53 RBL1 RB1 H2AC18 E2F4 E2F1
3	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Lipid and atherosclerosis ³⁶ Regulation of toll-like receptor signaling pathway ¹	13.25	TP53 RB1 E2F1 CDK6 CDK4 CDK2
4	Cellular Senescence (REACTOME) ⁶⁵ Show member pathways Cellular responses to stress ⁶⁵ Oxidative Stress Induced Senescence ⁶⁵ Senescence-Associated Secretory Phenotype (SASP) ⁶⁵	13.23	TP53 RB1 H2AC18 E2F1 CDKN2A CDK6
5	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	13.12	TP53 RBL1 RB1 E2F1 CDK6 CDK4
6	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	13.04	TP53 RB1 E2F1 CDKN2A CDK6 CDK4
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	13.03	RB1 E2F1 CDKN2A CDK6 CDK4 CDK2
8	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	13.02	TP53 RBL1 E2F4 E2F1 CDKN2A CDK2
9	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 ²³ Thyroid cancer ³⁶	13	TP53 RB1 E2F1 CDKN2A CDK6 CDK4
10	Pathways in cancer ³⁶	12.97	TP53 RB1 E2F1 CDKN2A CDK6 CDK4
11	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.93	TP53 RB1 E2F1 CDK6 CDK4 CDK2
12	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.87	TP53 RB1 E2F1 CDKN2A CDK6 CDK4
13	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	12.84	TP53 RBL1 RB1 E2F4 E2F1 CDK4
14	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.82	TP53 RB1 E2F1 CDKN2A CDK6 CDK4
15	DREAM Repression and Dynorphin Expression ⁶³ Show member pathways BMP Pathway ⁶³ Calpain Protease Regulates Cellular Mechanics ⁶³ Caspase Cascade ⁶³ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁵ nNOS Signaling in Skeletal Muscle ⁶³ TOB in Osteoblast Signaling ⁶³	12.72	RB1 CDK6 CDK4 CDK2 CCND1
16	Mitotic G1-G1/S phases ⁶⁵ Show member pathways G1 to S cell cycle control ¹ G1/S Transition ⁶⁵	12.65	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
17	DNA Damage ⁴	12.63	TP53 RB1 E2F1 CDKN2A CDK6 CDK4
18	MicroRNAs in cancer ³⁶	12.59	TP53 MIR9-1 MIR199A1 MIR17 MIR125A E2F1
19	Human T-cell leukemia virus 1 infection ³⁶	12.49	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	12.48	TP53 RB1 MIR17 E2F1 CDKN2A CDK6
21	WNT Signaling ⁶³	12.47	TP53 RBL1 RB1 E2F4 E2F1 CDK6
22	Viral carcinogenesis ³⁶	12.44	TP53 RBL1 RB1 CDKN2A CDK6 CDK4
23	p53 Signaling ⁶³ Show member pathways P53 Pathway ⁶⁶	12.4	TP53 RB1 E2F4 E2F1 CDK4 CDK2
24	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	12.39	TP53 RB1 E2F4 E2F1 CDK4 CDK2
25	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 ²³	12.38	TP53 RB1 H2AC18 CDK2
26	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
27	Cell cycle Role of SCF complex in cell cycle regulation ²³ Show member pathways Cell cycle ESR1 regulation of G1/S transition ²³ Cell cycle Regulation of G1/S transition (part 1) ²³ Immune response MIF-JAB1 signaling ²³	12.34	RB1 E2F4 E2F1 CDKN2A CDK6 CDK4
28	Integrated Breast Cancer Pathway ¹	12.31	TP53 RB1 E2F1 CDK4 CDK2 CCND1
29	Colorectal Cancer Metastasis ⁶³	12.24	TP53 E2F4 CCND1 APC
30	Spinal Cord Injury ¹	12.18	TP53 RB1 E2F1 CDK4 CDK2 CCND1
31	TGF-beta Signaling Pathway (WikiPathways) ¹	12.13	TP53 RBL1 E2F4 CCND1
32	Adipogenesis ¹	12.13	RBL1 RB1 E2F4 E2F1
33	DNA Damage Response (only ATM dependent) ¹	12.07	TP53 CDKN2A CCND1 APC
34	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	12.07	TP53 RBL1 E2F4 E2F1 CDK2
35	Senescence and Autophagy in Cancer ¹	12.03	TP53 RB1 E2F1 CDKN2A
36	Small cell lung cancer ³⁶	12.02	TP53 RB1 E2F1 CDK6 CDK4 CDK2
37	Retinoblastoma (RB) in Cancer ¹	11.97	TP53 RB1 E2F1 CDK6 CDK4 CDK2
38	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.92	TP53 RB1 E2F4 E2F1
39	E2F transcription factor network ¹	11.91	RBL1 RB1 E2F4 E2F1 CDK2
40	Glioblastoma Multiforme ⁶³	11.9	TP53 RB1 E2F4 E2F1 CDKN2A CDK6
41	Bladder cancer ³⁶ ¹	11.88	TP53 RB1 E2F1 CDKN2A CDK4 CCND1
42	Cellular senescence (KEGG) ³⁶	11.85	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
43	Human Thyroid Stimulating Hormone (TSH) signaling pathway ¹	11.82	RB1 E2F1 CDK4 CDK2
44	Transcription_P53 signaling pathway ²³	11.82	TP53 RB1 E2F1 CDKN2A CDK2
45	Regulation of nuclear SMAD2/3 signaling ¹	11.8	RBL1 CDK4 CDK2
46	Cell cycle Cell cycle (generic schema) ²³ Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²³ G0 and Early G1 ⁶⁵ G2 Phase ⁶⁵	11.79	RBL1 RB1 E2F4 E2F1 CDK6 CDK4
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	Cell cycle ³⁶ ¹	11.72	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
49	Photodynamic therapy-induced AP-1 survival signaling. ¹	11.69	TP53 RB1 CDKN2A CCND1
50	miRNAs involved in DNA damage response ¹	11.68	TP53 E2F1 CDK6 CCND1

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	10.24	TP53 RBL1 RB1 MIR9-1 KDM4C H2AC18
2	nucleoplasm	GO:0005654	9.97	TP53 RBL1 RB1 KDM4C E2F4 E2F1
3	chromatin	GO:0000785	9.92	TP53 RBL1 RB1 KDM4C H2AC18 E2F4
4	centrosome	GO:0005813	9.8	TP53 E2F1 CDK6 CDK2 APC
5	Rb-E2F complex	GO:0035189	9.26	RB1 E2F1
6	cyclin-dependent protein kinase holoenzyme complex	GO:0000307	9.26	CDK6 CDK4 CDK2 CCND1
7	transcription factor complex	GO:0005667	9.17	TP53 RBL1 RB1 E2F4 E2F1 CDK4

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

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription by RNA polymerase II	GO:0000122	10.1	TP53 RBL1 RB1 E2F1 CDK2 CCND1
2	positive regulation of gene expression	GO:0010628	10.02	TP53 MIR125A KDM4C E2F1 CDKN2A
3	gene silencing by miRNA	GO:0035195	10.01	MIR9-1 MIR675 MIR361 MIR199A1 MIR17 MIR125A
4	cell division	GO:0051301	10	RB1 CDK6 CDK4 CDK2 CCND1
5	positive regulation of apoptotic process	GO:0043065	9.97	TP53 E2F1 CDKN2A CDK4 APC
6	negative regulation of cell proliferation	GO:0008285	9.97	TP53 RB1 MIR9-1 CDKN2A CDK6 APC
7	cell cycle	GO:0007049	9.96	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
8	negative regulation of gene expression	GO:0010629	9.95	TP53 RBL1 RB1 MIR17 MIR125A
9	regulation of cell proliferation	GO:0042127	9.91	TP53 E2F4 CDK6 CDK4
10	cell cycle arrest	GO:0007050	9.8	TP53 RB1 CDKN2A CDK6 APC
11	Ras protein signal transduction	GO:0007265	9.78	TP53 RB1 CDKN2A CDK2
12	negative regulation of osteoblast differentiation	GO:0045668	9.76	MIR9-1 MIR675 CDK6
13	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:0006977	9.76	TP53 E2F4 E2F1 CDK2
14	positive regulation of fibroblast proliferation	GO:0048146	9.73	MIR17 E2F1 CDK6 CDK4
15	negative regulation of cellular senescence	GO:2000773	9.69	RBL1 MIR17 CDK6
16	negative regulation of G1/S transition of mitotic cell cycle	GO:2000134	9.63	RBL1 RB1 CDKN2A CDK6 CDK4 APC
17	negative regulation of vascular endothelial growth factor production	GO:1904046	9.62	MIR361 MIR199A1 MIR17 MIR125A
18	positive regulation of cardiac muscle hypertrophy in response to stress	GO:1903244	9.61	MIR199A1 MIR17
19	cellular response to xenobiotic stimulus	GO:0071466	9.59	RB1 E2F1
20	re-entry into mitotic cell cycle	GO:0000320	9.57	MIR199A1 CCND1
21	regulation of lipid kinase activity	GO:0043550	9.56	RBL1 RB1
22	mitotic G1 DNA damage checkpoint	GO:0031571	9.54	TP53 CDK2 CCND1
23	negative regulation of transcription involved in G1/S transition of mitotic cell cycle	GO:0071930	9.52	RB1 E2F1
24	G1/S transition of mitotic cell cycle	GO:0000082	9.5	RB1 E2F1 CDKN2A CDK6 CDK4 CDK2
25	regulation of cell cycle	GO:0051726	9.23	TP53 RBL1 RB1 E2F1 CDK6 CDK4

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:0019901	9.88	TP53 E2F1 CDKN2A CCND1 APC
2	mRNA binding involved in posttranscriptional gene silencing	GO:1903231	9.63	MIR9-1 MIR675 MIR361 MIR199A1 MIR17 MIR125A
3	promoter-specific chromatin binding	GO:1990841	9.61	TP53 RBL1 E2F4
4	disordered domain specific binding	GO:0097718	9.58	TP53 RB1 CDKN2A
5	cyclin binding	GO:0030332	9.54	CDK6 CDK4 CDK2
6	cyclin-dependent protein serine/threonine kinase activity	GO:0004693	9.5	CDK6 CDK4 CDK2
7	transcription factor binding	GO:0008134	9.5	TP53 RBL1 RB1 E2F4 E2F1 CDKN2A
8	RNA polymerase II CTD heptapeptide repeat kinase activity	GO:0008353	9.49	CDK6 CDK4
9	MDM2/MDM4 family protein binding	GO:0097371	9.46	TP53 CDKN2A
10	bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding	GO:0001216	9.43	TP53 E2F4 E2F1
11	mRNA 3'-UTR binding	GO:0003730	9.1	TP53 MIR9-1 MIR675 MIR361 MIR17 MIR125A

Sources

Sources for Retinal Cancer

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

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⁹ Cosmic

¹⁰ dbSNP

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¹² Disease Ontology

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²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia