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

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Aliases & Classifications for Retinal Degeneration

MalaCards integrated aliases for Retinal Degeneration:

Name: Retinal Degeneration ¹¹ ⁷⁵ ²⁸ ⁵³ ⁵ ⁴³ ¹⁴ ³⁸ ⁷¹ ⁷⁵

Degeneration of Retina ¹¹

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:8466

MeSH ⁴³ D012162

NCIt ⁴⁹ C34979

SNOMED-CT ⁶⁸ 95695004

UMLS ⁷¹ C0035304

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Summaries for Retinal Degeneration

Disease Ontology: ¹¹ A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.

MalaCards based summary: Retinal Degeneration, also known as degeneration of retina, is related to late-onset retinal degeneration and peripheral retinal degeneration. An important gene associated with Retinal Degeneration is RPE65 (Retinoid Isomerohydrolase RPE65). The drugs Dorzolamide and Carbonic Anhydrase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are nervous system and pigmentation

Wikipedia: ⁷⁵ Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy... more...

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Related Diseases for Retinal Degeneration

Diseases in the Retinal Degeneration family:

Late-Onset Retinal Degeneration

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

(show top 50) (show all 671)

#	Related Disease	Score	Top Affiliating Genes
1	late-onset retinal degeneration	33.9	USH2A TULP1 RPE65 RHO PRPH2 NR2E3
2	peripheral retinal degeneration	33.6	RPE65 RHO CLN3
3	retinitis pigmentosa	33.3	USH2A TULP1 SOX2-OT SLC6A6 RPE65 RHO
4	macular degeneration, age-related, 1	33.3	USH2A RPE65 RHO PRPH2 NRL NR2E3
5	cone-rod dystrophy 2	33.0	USH2A TULP1 RPE65 RHO RD3 PRPH2
6	enhanced s-cone syndrome	32.9	RPE65 RHO NRL NR2E3 CRB1
7	degeneration of macula and posterior pole	32.8	RPE65 RHO PRPH2 NRL CRB1
8	retinitis	32.7	USH2A TULP1 RPE65 RHO PRPH2 NRL
9	pseudoretinitis pigmentosa	32.7	TULP1 CRB1
10	leber congenital amaurosis 4	32.6	TULP1 RPE65 RD3 PRPH2 CRB1
11	choroideremia	32.5	USH2A RPE65 RHO PRPH2
12	retinal disease	32.4	USH2A RPE65 RHO PRPH2 NRL NR2E3
13	fundus dystrophy	32.4	USH2A TULP1 RPE65 RHO RD3 PRPH2
14	leber plus disease	32.2	USH2A TULP1 RPE65 RHO RD3 PRPH2
15	eye disease	32.0	USH2A TULP1 RPE65 RHO RD3 PRPH2
16	night blindness	32.0	USH2A TULP1 RPE65 RHO PRPH2 NRL
17	pigmented paravenous chorioretinal atrophy	32.0	NR2E3 CRB1
18	stargardt disease	31.9	USH2A TULP1 RPE65 RHO PRPH2 NRL
19	usher syndrome	31.8	USH2A TULP1 RPE65 RHO PRPH2 NRL
20	cone dystrophy	31.7	USH2A TULP1 RPE65 RHO PRPH2 NRL
21	achromatopsia	31.5	USH2A TULP1 RPE65 RHO RD3 PRPH2
22	stargardt disease 1	31.5	TULP1 PRPH2 CRB1 CLN3
23	bardet-biedl syndrome	31.4	USH2A TULP1 RPE65 RHO PRPH2 IQCE
24	scotoma	31.4	USH2A RPE65 RHO PRPH2
25	fundus albipunctatus	31.4	USH2A TULP1 RPE65 RHO PRPH2 NR2E3
26	congenital stationary night blindness	31.4	USH2A TULP1 RPE65 RHO RD3 PRPH2
27	hereditary retinal dystrophy	31.4	USH2A RPE65 RHO PRPH2 CRB1
28	usher syndrome, type iia	31.4	USH2A RD3 CRB1
29	retinoschisis 1, x-linked, juvenile	31.3	USH2A RPE65 RHO PRPH2 NRL NR2E3
30	joubert syndrome 1	31.3	USH2A TULP1 RPE65 RHO RD3 CRB1
31	choroidal dystrophy, central areolar, 1	31.3	USH2A RPE65 PRPH2 NR2E3 CRB1
32	usher syndrome type 2	31.3	USH2A RPE65 RHO PRPH2 NR2E3 CRB1
33	senior-loken syndrome 1	31.3	USH2A TULP1 RPE65 RHO PRPH2 CRB1
34	leber congenital amaurosis 2	31.2	TULP1 RPE65 RHO RD3 CRB1
35	gyrate atrophy of choroid and retina	31.2	USH2A RPE65 RHO PRPH2 NRL
36	macular retinal edema	31.2	USH2A RPE65 RHO NR2E3 CRB1
37	vitelliform macular dystrophy	31.1	USH2A RPE65 RHO PRPH2 NR2E3 CRB1
38	leber congenital amaurosis 1	31.1	TULP1 RPE65 RD3 NRL CRB1
39	retinitis pigmentosa 1	31.1	RHO PRPH2 NRL NR2E3
40	refractive error	31.1	RPE65 RHO CRB1
41	macular dystrophy, dominant cystoid	31.0	USH2A RPE65 RHO NR2E3 CRB1
42	usher syndrome, type i	31.0	USH2A TULP1 RPE65 RHO
43	leber congenital amaurosis 8	31.0	TULP1 RPE65 CRB1
44	nanophthalmos	31.0	TULP1 RPE65 RHO PRPH2 NR2E3 CRB1
45	leber congenital amaurosis 3	31.0	TULP1 RPE65 RD3 CRB1
46	leber congenital amaurosis 10	30.9	USH2A TULP1 RPE65 RHO RD3 CRB1
47	retinitis pigmentosa 7	30.9	RPE65 RHO PRPH2
48	leber congenital amaurosis 12	30.8	RPE65 RD3
49	keratoconus	30.8	TULP1 RPE65 RD3 CRB1
50	leber congenital amaurosis 9	30.7	TULP1 RPE65 CRB1

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

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Symptoms & Phenotypes for Retinal Degeneration

MGI Mouse Phenotypes related to Retinal Degeneration:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.83	ATXN7 C1QTNF5 CLN3 CP CRB1 MALAT1
2	pigmentation	MP:0001186	9.76	C1QTNF5 CP CRB1 NRL PRPH2 RHO
3	vision/eye	MP:0005391	9.55	ATXN7 C1QTNF5 CLN3 CP CRB1 IQCE

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Drugs & Therapeutics for Retinal Degeneration

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

(show all 32)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Dorzolamide

Approved

Phase 4

120279-96-1

5284549

2

Carbonic Anhydrase Inhibitors

Phase 4

3

Antihypertensive Agents

Phase 4

4

Aflibercept

Approved

Phase 3

862111-32-8

124490314

5

Ranibizumab

Approved

Phase 3

347396-82-1

6

Cysteine

Approved, Nutraceutical

Phase 2, Phase 3

52-90-4

594 5862

7

Angiogenesis Inhibitors

Phase 3

8

Coal tar

Approved

Phase 1, Phase 2

8007-45-2

9

Valproic acid

Approved, Investigational

Phase 2

99-66-1

3121

10

Metformin

Approved

Phase 1, Phase 2

1115-70-4, 657-24-9

4091

11

Minocycline

Approved, Investigational

Phase 1, Phase 2

10118-90-8, 13614-98-7

54675783 5281021

12

Ethanol

Approved

Phase 1, Phase 2

64-17-5

702

13

Disulfiram

Approved

Phase 1, Phase 2

97-77-8

3117

14

Bevacizumab

Approved, Investigational

Phase 2

216974-75-3

135329020

15

Anticonvulsants

Phase 2

16

Neurotransmitter Agents

Phase 2

17

Psychotropic Drugs

Phase 2

18

Pharmaceutical Solutions

Phase 1, Phase 2

19

Hypoglycemic Agents

Phase 1, Phase 2

20

Anti-Bacterial Agents

Phase 1, Phase 2

21

Complement System Proteins

Phase 1, Phase 2

22

Endothelial Growth Factors

Phase 2

23

Mitogens

Phase 2

24

Antiviral Agents

Phase 1, Phase 2

25

Anti-Infective Agents

Phase 1, Phase 2

26

interferons

Phase 1, Phase 2

27

Interferon-gamma

Phase 1, Phase 2

28

Anesthetics

Phase 1

29

Cannabidiol

Approved, Investigational

Early Phase 1

13956-29-1

521372 644019

30

Metronidazole

Approved

443-48-1, 69198-10-3

4173

31

Lutein

Approved, Investigational, Nutraceutical

127-40-2

5281243

32

Lemon Balm

Interventional clinical trials:

(show top 50) (show all 68)

#	Name	Status	NCT ID	Phase	Drugs
1	Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration	Completed	NCT00716586	Phase 4	2% dorzolamide
2	A 52-week, Two Arm, Randomized, Open-label, Multicenter Study Assessing the Efficacy and Safety of Two Different Brolucizumab 6 mg Dosing Regimens for Patients With Suboptimal Anatomically Controlled Neovascular Age-related Macular Degeneration	Recruiting	NCT04679935	Phase 4
3	A 64-week, Two-arm, Randomized, Double-masked, Multicenter, Phase IIIb Study Assessing the Efficacy and Safety of Brolucizumab 6 mg Compared to Aflibercept 2 mg in a Treat-to-control Regimen in Patients With Neovascular Agerelated Macular Degeneration (TALON)	Completed	NCT04005352	Phase 3
4	A Single-Arm, Open-Label, Multicenter, Phase IIIb Study to Collect Safety and Electrocardiogram Data on Brolucizumab 6 mg Intravitreal Treatment in Patients With Neovascular Age-Related Macular Degeneration	Completed	NCT03954626	Phase 3
5	A Phase III b, Multicenter Study of the Efficacy and Safety of Aflibercept Switch in Patients With Exudative AMD With Detachment of the Retinal Pigment Epithelium and Previously Treated With Ranibizumab Intravitreal Injection. (ARI2)	Completed	NCT02157077	Phase 3	Aflibercept
6	An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age With Leber Congenital Amaurosis Type 10 (LCA10) Due to the c.2991 +1655A>G (p.Cys998X) Mutation.	Recruiting	NCT04855045	Phase 2, Phase 3	sepofarsen
7	Effectiveness and Safety of Subtenon Administration of Autologous Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration	Unknown status	NCT02144103	Phase 1, Phase 2
8	A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations	Unknown status	NCT01278277	Phase 1, Phase 2
9	An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration	Completed	NCT00643747	Phase 1, Phase 2
10	A Phase I/IIa Open Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Intravitreal vMCO-I in Patients With Advanced Retinitis Pigmentosa	Completed	NCT04919473	Phase 1, Phase 2
11	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa	Completed	NCT01399515	Phase 2	Valproic Acid
12	A Phase I/II Controlled Dose-escalating Trial to Establish the Baseline Safety and Efficacy of a Single Subretinal Injection of rAAV.sFlt-1 Into Eyes of Patients With Exudative Age-related Macular Degeneration (AMD)	Completed	NCT01494805	Phase 1, Phase 2
13	Efficacy of Biweekly Ranibizumab (0.5 mg) for Exudative Macular Degeneration Retinal Edema Refractory to Anti-VEGF Therapy Comparing Syringe Preparation Time Using Ranibizumab Vial and Pre-filled Syringe	Completed	NCT03071055	Phase 2	Ranibizumab Injection [Lucentis]
14	Stem Cell Derived Retinal Pigmented Epithelium Implantation in Patients With Outer Retinal Degenerations: Phase I/II Clinical Trial	Completed	NCT02903576	Phase 1, Phase 2
15	Oral Metformin for Treatment of ABCA4 Retinopathy	Recruiting	NCT04545736	Phase 1, Phase 2	Metformin hydrochloride
16	The Efficacy and Safety of Minocycline for Chronic Autoimmune Uveitis	Recruiting	NCT05474729	Phase 1, Phase 2	minocycline
17	Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of EDIT-101 in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26")	Active, not recruiting	NCT03872479	Phase 1, Phase 2	EDIT-101
18	FOCUS: An Open Label First in Human Phase I/II Multicentre Study to Evaluate the Safety, Dose Response and Efficacy of GT005 Administered as a Single Subretinal Injection in Subjects With Macular Atrophy Due to AMD	Active, not recruiting	NCT03846193	Phase 1, Phase 2
19	A Phase 2b Randomized, Double-Masked, Sham-Controlled, Study to Evaluate the Efficacy and Safety of Intravitreal Injection of vMCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]	Active, not recruiting	NCT04945772	Phase 2
20	A Cross-over Randomized Control Trial to Evaluate the Retinaldehyde Dehydrogenase Inhibitor, Disulfiram, in Improving Retinal Sensitivity in Eyes Affected by Inherited Retinal Degeneration	Not yet recruiting	NCT05626920	Phase 1, Phase 2	Disulfiram 250 mg;Placebo
21	An Open Label, Dose Exploration, Safety and Tolerability Study of a Subretinal Injection of an OPGx-001 Gene Vector to Participants With LCA5-Associated Inherited Retinal Degeneration (LCA5-IRD)	Not yet recruiting	NCT05616793	Phase 1, Phase 2
22	A Multicenter, Open-label, Multiple Dose Study in Patients With Geographic Atrophy Secondary to Dry Age-related Macular Degeneration to Evaluate the Safety, Tolerability, Pharmacodynamics, and Immunogenicity of Repeat Intravitreal Injections of GEM103	Terminated	NCT04643886	Phase 2	GEM103
23	A Multicenter, Multiple-Dose Study in Neovascular Age-related Macular Degeneration (nAMD) to Evaluate the Safety, Tolerability, Pharmacodynamics, Immunogenicity, and Clinical Effect of Repeat Intravitreal (IVT) Injections of GEM103 as an Adjunct to Standard of Care Aflibercept Therapy	Terminated	NCT04684394	Phase 2	Aflibercept;Sham
24	A Randomized, Double-Masked, Placebo-Controlled, Dose- Finding, Non-Inferiority Study of X-82 Plus Prn Intravitreal (Ivt) Anti-VEGF Compared to Prn Ivt Anti-VEGF Monotherapy in Neovascular AMD	Terminated	NCT02348359	Phase 2	X-82;Anti-VEGF;Placebo
25	Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)	Terminated	NCT02338973	Phase 1, Phase 2	Interferon gamma-1b
26	Stem Cells Therapy in Degenerative Diseases of the Retina	Unknown status	NCT03772938	Phase 1
27	A Phase 1, Multicenter, Open-label, Single-dose, Dose-escalation Study in Patients With Geographic Atrophy (GA) Secondary to Dry Age-related Macular Degeneration (AMD) to Evaluate the Safety, Tolerability, Pharmacodynamics, and Immunogenicity of Intravitreal Injections of GEM103	Completed	NCT04246866	Phase 1
28	A PHASE 1, DOUBLE-MASKED, PLACEBO-CONTROLLED STUDY EVALUATING THE SAFETY, TOLERABILITY, IMMUNOGENICITY, PHARMACOKINETICS AND PHARMACODYNAMICS OF MULTIPLE ESCALATING DOSAGES OF RN6G (PF-04382923) IN SUBJECTS WITH ADVANCED DRY, AGE-RELATED MACULAR DEGENERATION (AMD) INCLUDING GEOGRAPHIC ATROPHY	Completed	NCT01003691	Phase 1
29	A Phase 1, Open-Label, Multi-Center, Dose-Escalating, Safety and Tolerability Study of a Single Intravitreal Injection of AAV2-sFLT01 in Patients With Neovascular Age-Related Macular Degeneration	Completed	NCT01024998	Phase 1
30	A Phase 1 Dose Escalation Study Evaluating the Safety, Pharmacokinetics and Pharmacodynamics of OPT-302 in Combination With Ranibizumab in Subjects With Wet AMD	Completed	NCT02543229	Phase 1	OPT-302;Lucentis™
31	A Phase I, Double-masked, Placebo-controlled Study Evaluating The Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, And Immunogenicity Of Single Escalating Doses Of Rn6g In Patients With Dry, Age-related Macular Degeneration (Amd)	Completed	NCT00877032	Phase 1
32	Intravitreal Autologous Bone Marrow-derived Mesenchymal Stem Cell Transplantation in Patients With Advanced Glaucoma. Phase I: Safety Study.	Completed	NCT02330978	Phase 1
33	Natural History Study of CEP290-Related Retinal Degeneration	Completed	NCT03396042
34	Quality of Life Measures in Patients With Retinal Degeneration	Completed	NCT02814435
35	Color Vision as an Outcome Measure for Clinical Trials of Inherited Retinal Degenerations	Completed	NCT01878032
36	A Multi-Center Study of Reading Rehabilitation in Macular Disease	Completed	NCT00746668
37	Scleral Depression Pain With Schocket Depressor and Cotton Tipped Applicator: Depression Eye Pain Relief Evaluation Study (DEPRESS)	Completed	NCT04115917
38	Changes of Macular Pigment Optical Density and Parameters After Nd: YAG Laser Posterior Capsulotomy in Cases With Posterior Capsule Opacification	Completed	NCT03321253
39	Combined Coaxial Optical Coherence Tomography System to Image the Retina and Choroidal Structures and Estimate Tissue Reflectivity in Healthy and Diseased Retinas	Completed	NCT03843840
40	Pathophysiological Analysis of Ocular Ischemic Syndrome and the Response to Vascular Surgery	Completed	NCT00403195
41	Measuring Reading Rehabilitation Outcomes	Completed	NCT00125632
42	Studies of Patients With Skin Disease, Patients With Neurological Degenerations, and Normal Volunteers	Completed	NCT00001164
43	Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients: A Prospective Multicenter Clinical Study Based on Randomized Intra-individual Implant Activation in Patients With Degenerative Retinal Diseases	Completed	NCT01024803
44	The Effect of Laser Pan-retinal Photocoagulation on Macular Pigment Optical Density in Cases With Diabetic Retinopathy	Completed	NCT03150654
45	Molecular Genetics of Retinal Degenerations	Completed	NCT00231010
46	Safety & Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients: A Prospective Mono- & Multicenter Clinical Study Based on Randomized Intra-individual Implant Activation in Degenerative Retinal Disease Patients.	Completed	NCT01497379
47	The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration	Completed	NCT03492853
48	Adaptive Optics Imaging of Outer Retinal Diseases	Recruiting	NCT05355415
49	Rate of Progression of PCDH15-Related Retinal Degeneration in Usher	Recruiting	NCT04765345
50	Bimodal and Coaxial High Resolution Ophtalmic Imaging	Recruiting	NCT04620876

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Cochrane evidence based reviews: retinal degeneration

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Genetic Tests for Retinal Degeneration

Genetic tests related to Retinal Degeneration:

#	Genetic test	Affiliating Genes
1	Retinal Degeneration ²⁸

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Anatomical Context for Retinal Degeneration

Organs/tissues related to Retinal Degeneration:

MalaCards : Retina, Eye, Bone Marrow, Brain, Bone, Endothelial, Skin

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Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 7427)

#	Title	Authors	PMID	Year
1	Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. ⁶² ⁵	Ansar M...Antonarakis SE	31903486	2020
2	Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. ⁶² ⁵	Preising MN...Bolz HJ	31345061	2019
3	An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. ⁶² ⁵	Tracewska-Siemiatkowska A...Tranebjarg L	29232904	2017
4	FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase. ⁵³ ⁶²	Guignard TJ...Brabet P	20356843	2010
5	Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. ⁵³ ⁶²	Sergeev YV...Sieving PA	20061330	2010
6	Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa. ⁵³ ⁶²	Cai X...Naash MI	19952284	2010
7	Deafness and retinal degeneration in a novel USH1C knock-in mouse model. ⁵³ ⁶²	Lentz JJ...Keats BJ	20095043	2010
8	The dependence of retinal degeneration caused by the rhodopsin P23H mutation on light exposure and vitamin a deprivation. ⁵³ ⁶²	Tam BM...Moritz OL	19933196	2010
9	CNTF induces regeneration of cone outer segments in a rat model of retinal degeneration. ⁵³ ⁶²	Li Y...Wen R	20209167	2010
10	Morphological alterations in retinal neurons in the S334ter-line3 transgenic rat. ⁵³ ⁶²	Ray A...Lee EJ	20127257	2010
11	Morphological changes of short-wavelength cones in the developing S334ter-3 transgenic rat. ⁵³ ⁶²	Hombrebueno JR...Lee EJ	20114037	2010
12	Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. ⁵³ ⁶²	Sun X...Li T	19710705	2010
13	Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. ⁵³ ⁶²	Cai X...Naash MI	20238065	2010
14	CREB1/ATF1 activation in photoreceptor degeneration and protection. ⁵³ ⁶²	Beltran WA...Zeiss CJ	19643965	2009
15	Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. ⁵³ ⁶²	Lagziel A...Friedman TB	19756182	2009
16	Light responses in rods of vitamin A-deprived Xenopus. ⁵³ ⁶²	Solessio E...Barlow RB	19407019	2009
17	Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. ⁵³ ⁶²	Kitiratschky VB...Koch KW	19459154	2009
18	Dual transgenic reporter mice as a tool for monitoring expression of glial fibrillary acidic protein. ⁵³ ⁶²	Cho W...Messing A	19457099	2009
19	[Gene therapy for inherited retinal dystrophies]. ⁵³ ⁶²	Coco M...Sallum JM	19820803	2009
20	A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. ⁵³ ⁶²	Khanna H...Katsanis N	19430481	2009
21	Stable retinal gene expression in nonhuman primates via subretinal injection of SIVagm-based lentiviral vectors. ⁵³ ⁶²	Ikeda Y...Ishibashi T	19257835	2009
22	Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy. ⁵³ ⁶²	Abdelmaksoud HE...Sullivan JM	19094986	2009
23	A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. ⁵³ ⁶²	den Hollander AI...Berson EL	19074801	2009
24	Effects of pituitary adenylate cyclase activating polypeptide and its fragments on retinal degeneration induced by neonatal monosodium glutamate treatment. ⁵³ ⁶²	Atlasz T...Gabriel R	19456357	2009
25	Accumulation of rhodopsin in late endosomes triggers photoreceptor cell degeneration. ⁵³ ⁶²	Chinchore Y...Dolph PJ	19214218	2009
26	Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4. ⁵³ ⁶²	Mazelova J...Deretic D	19153612	2009
27	Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. ⁵³ ⁶²	van Wijk E...Kremer H	18826961	2009
28	An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. ⁵³ ⁶²	Ebermann I...Bolz HJ	18665195	2009
29	Mutation of a TADR protein leads to rhodopsin and Gq-dependent retinal degeneration in Drosophila. ⁵³ ⁶²	Ni L...Li HS	19074021	2008
30	Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity. ⁵³ ⁶²	Chien LT...Hartzell HC	18955594	2008
31	Restoration of visual function in retinal degeneration mice by ectopic expression of melanopsin. ⁵³ ⁶²	Lin B...Masland RH	18836071	2008
32	Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Herrmann P...Schliebs R	18265413	2008
33	Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. ⁵³ ⁶²	Manuel M...Price DJ	18507827	2008
34	Survival and remodeling of melanopsin cells during retinal dystrophy. ⁵³ ⁶²	Vugler AA...Jeffery G	18442436	2008
35	Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. ⁵³ ⁶²	He S...Khanna H	17904189	2008
36	Chronic intravitreous infusion of ciliary neurotrophic factor modulates electrical retinal stimulation thresholds in the RCS rat. ⁵³ ⁶²	Kent TL...Iezzi R	18172115	2008
37	On the role of CNTF as a potential therapy for retinal degeneration: Dr. Jekyll or Mr. Hyde? ⁵³ ⁶²	Beltran WA	18188927	2008
38	A novel form of transducin-dependent retinal degeneration: accelerated retinal degeneration in the absence of rod transducin. ⁵³ ⁶²	Brill E...Lem J	18055791	2007
39	Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. ⁵³ ⁶²	Mataftsi A...Munier FL	17962469	2007
40	Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume. ⁵³ ⁶²	Chien LT...Hartzell HC	17968025	2007
41	Increased expression of glial cell line-derived neurotrophic factor protects against oxidative damage-induced retinal degeneration. ⁵³ ⁶²	Dong A...Campochiaro PA	17935603	2007
42	The rdgB gene of Drosophila: a link between vision and olfaction. ⁵³ ⁶²	Woodard C...Carlson J	18161590	2007
43	Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. ⁵³ ⁶²	Simonelli F...Banfi S	17724218	2007
44	Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin. ⁵³ ⁶²	Tam BM...Moritz OL	17715341	2007
45	Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. ⁵³ ⁶²	Woodruff ML...Dizhoor AM	17699662	2007
46	Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. ⁵³ ⁶²	Kohn L...Golovleva I	17377520	2007
47	Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F. ⁵³ ⁶²	Grondahl J...Bragadottir R	17488458	2007
48	Prominin-2 is a cholesterol-binding protein associated with apical and basolateral plasmalemmal protrusions in polarized epithelial cells and released into urine. ⁵³ ⁶²	Florek M...Corbeil D	17109118	2007
49	The role of anti-alpha-enolase autoantibodies in pathogenicity of autoimmune-mediated retinopathy. ⁵³ ⁶²	Magrys A...Adamus G	17235687	2007
50	Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function. ⁵³ ⁶²	Ishiba Y...Inana G	17174953	2007

Sources

Genes for Retinal Degeneration

Genes related to Retinal Degeneration (4 elite genes):

(show top 50) (show all 189)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	428.5	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11095629 11727200 16374319 (more) 9501877 10869443 16754667 20356843 12187427 17197551 19820803 16518657 14611946 15765048 17724218
2	TULP1	TUB Like Protein 1	Protein Coding	426.78	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10440267 9096357 10607826 (more) 17962469 15180277 9828123 11000483 12187427
3	USH2A	Usherin	Protein Coding	423.89	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18826961 18665195
4	IQCE	IQ Motif Containing E	Protein Coding	400	Pathogenic ⁵
5	SOX2-OT	SOX2 Overlapping Transcript	RNA Gene	154.82	Experimental evidence: Locus ³⁷ DISEASES inferred ¹⁴	27193103
6	MALAT1	Metastasis Associated Lung Adenocarcinoma Transcript 1	RNA Gene	153.56	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	24436191 25356875 26964565 (more) 27587362
7	PITPNM1	Phosphatidylinositol Transfer Protein Membrane Associated 1	Protein Coding	55.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Summaries Functions (show sections)	7918226 7914867 10022914 (more) 9927463 2296574 18161590 9680295 7581037 11744244 17377520 16828756 15627748 10460238 10531358 15194420 1309615 1556632 9245688 10400687
8	RHO	Rhodopsin	Protein Coding	54.41	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12486400 7695903 2361011 (more) 7960587 15184660 19214218 11972042 10488366 16835270 7708777 17715341 7846071 15014127 15059605 10380070 17167409 9618546 12176994 19933196 20114037 19407019 15193529 12848937 12202526 10802658 10549638 18055791 16319820 12466267 14576453 12867022 11853766 16979686 15877050 9685396 20127257 19074021 15728366 12866125 19153612 11124299 9235891 11086989 9344665 19094986 8446607
9	ATXN7	Ataxin 7	Protein Coding	53.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	10598805 14571264 9425224
10	SLC6A6	Solute Carrier Family 6 Member 6	Protein Coding	47.84	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	31345061 31903486
11	PRPH2	Peripherin 2	Protein Coding	37.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name (show sections)	1415249 20238065 8504299 (more) 19952284 8956033 15509503
12	C1QTNF5	C1q And TNF Related 5	Protein Coding	37.16	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	12944416
13	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	36.8	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	17234746 12187427 12915475 (more) 16505060 17234588
14	NRL	Neural Retina Leucine Zipper	Protein Coding	35.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	17356515 9344665 12552256
15	RD3	RD3 Regulator Of GUCY2D	Protein Coding	34.53	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name Summaries (show sections)
16	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	34.46	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19006237 11773633 10805811
17	PITPNM2	Phosphatidylinositol Transfer Protein Membrane Associated 2	Protein Coding	32.13	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name Summaries (show sections)
18	PPEF1	Protein Phosphatase With EF-Hand Domain 1	Protein Coding	31.43	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries Functions (show sections)
19	CLN3	CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin	Protein Coding	31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10964839 18265413
20	CP	Ceruloplasmin	Protein Coding	29.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	9438577 16639025 17065470 (more) 12724641 12730458 15384688 15365174
21	YARS1	Tyrosyl-TRNA Synthetase 1	Protein Coding	28.87	Likely pathogenic ⁵ DISEASES inferred ¹⁴	29232904
22	PROM1	Prominin 1	Protein Coding	28.62	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10587575 17109118 12514187
23	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	27.79	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10932196 11968081 11702207 (more) 16632484 10482958 10958647 11581184 15302348 9990021 17904189
24	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	27.57	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16374319 15108289 16546111 (more) 9703434 10412977 14709597 15064680 16303974
25	PDE6B	Phosphodiesterase 6B	Protein Coding	26.93	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11239245 1329504
26	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	26.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12623820 12187427 20012162 (more) 17699662
27	MYO7A	Myosin VIIA	Protein Coding	26.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Summaries (show sections)	11889386 16001398 11992483 (more) 8884267
28	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	25.98	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12374762 19710705 10873396 (more) 15365173 14611946 12187427
29	CRX	Cone-Rod Homeobox	Protein Coding	25.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11951083 11328746 17356515 (more) 12187427
30	ROM1	Retinal Outer Segment Membrane Protein 1	Protein Coding	25.22	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Summaries (show sections)	8595413 1610568
31	SAG	S-Antigen Visual Arrestin	Protein Coding	24.7	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12637747 17069872 10339543 (more) 15541899 8316831 9727517 12848937 14769922 11584310 11853766
32	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	24.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10102299
33	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	24.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19459154
34	BEST1	Bestrophin 1	Protein Coding	24.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16707793 16940553 18955594 (more) 17968025
35	USH1C	USH1 Protein Network Component Harmonin	Protein Coding	24.35	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20095043
36	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	24.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19430481
37	NPHP1	Nephrocystin 1	Protein Coding	23.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16885411
38	OPN4	Opsin 4	Protein Coding	23.72	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18442436 18836071 15505076
39	ELOVL4	ELOVL Fatty Acid Elongase 4	Protein Coding	23.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12592226 17311087
40	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	23.34	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
41	RP2	RP2 Activator Of ARL3 GTPase	Protein Coding	23.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Summaries (show sections)	10634633 9697692 10862093 (more) 11371510 12417528
42	CNTF	Ciliary Neurotrophic Factor	Protein Coding	23.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16505355 10235570 20209167 (more) 17325188 18172115 11237681 12935781 18188927
43	NMNAT1	Nicotinamide Nucleotide Adenylyltransferase 1	Protein Coding	23.11	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
44	RPGRIP1L	RPGRIP1 Like	Protein Coding	23.06	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
45	FSCN2	Fascin Actin-Bundling Protein 2, Retinal	Protein Coding	22.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17251446
46	NPHP4	Nephrocystin 4	Protein Coding	22.73	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
47	PITPNM3	PITPNM Family Member 3	Protein Coding	22.72	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name (show sections)
48	CHM	CHM Rab Escort Protein	Protein Coding	22.43	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12401133 8294464 12014918 (more) 15370541
49	PALS1	Protein Associated With LIN7 1, MAGUK P55 Family Member	Protein Coding	22.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
50	UNC119	Unc-119 Lipid Binding Chaperone	Protein Coding	22.35	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17174953 12527357

Sources

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

⁵ (show top 50) (show all 84)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	IQCE	NM_152558.5(IQCE):c.895_904del (p.Val301fs)	DEL	Pathogenic	638149	rs773701437	GRCh37: 7:2625907-2625916 GRCh38: 7:2586273-2586282
2	TULP1	NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	SNV	Pathogenic	30261	rs387906836	GRCh37: 6:35471540-35471540 GRCh38: 6:35503763-35503763
3	RPE65	NM_000329.3(RPE65):c.1338+1G>A	SNV	Pathogenic	374139	rs1057518922	GRCh37: 1:68896964-68896964 GRCh38: 1:68431281-68431281
4	USH2A	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	DUP	Pathogenic	48615	rs397518043	GRCh37: 1:216498866-216498867 GRCh38: 1:216325524-216325525
5	SLC6A6	NM_003043.6(SLC6A6):c.1196G>T (p.Gly399Val)	SNV	Likely Pathogenic	870334	rs1700769766	GRCh37: 3:14513812-14513812 GRCh38: 3:14472304-14472304
6	SLC6A6	NM_003043.6(SLC6A6):c.233C>A (p.Ala78Glu)	SNV	Likely Pathogenic	870335	rs754954058	GRCh37: 3:14487228-14487228 GRCh38: 3:14445720-14445720
7	YARS1	NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)	SNV	Likely Pathogenic	996695	rs1653248260	GRCh37: 1:33252555-33252555 GRCh38: 1:32786954-32786954
8	RHO	NM_000539.3(RHO):c.284T>C (p.Leu95Pro)	SNV	Likely Pathogenic	984778	rs2084758666	GRCh37: 3:129247860-129247860 GRCh38: 3:129529017-129529017
9	USH2A	NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	SNV	Uncertain Significance	429215	rs539192853	GRCh37: 1:215824058-215824058 GRCh38: 1:215650716-215650716
10	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1290G>A	SNV	Uncertain Significance	302927	rs751401877	GRCh37: 11:119210379-119210379 GRCh38: 11:119339669-119339669
11	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1540T>C	SNV	Uncertain Significance	302924	rs779732274	GRCh37: 11:119210129-119210129 GRCh38: 11:119339419-119339419
12	C1QTNF5, MFRP	NM_031433.4(MFRP):c.195C>T (p.Phe65_Ser66=)	SNV	Uncertain Significance	302976	rs138913508	GRCh37: 11:119216832-119216832 GRCh38: 11:119346122-119346122
13	C1QTNF5, MFRP	NM_031433.4(MFRP):c.705C>T (p.Phe235_Val236=)	SNV	Uncertain Significance	302967	rs34190279	GRCh37: 11:119215651-119215651 GRCh38: 11:119344941-119344941
14	C1QTNF5, MFRP	NM_031433.4(MFRP):c.1506C>T (p.Ser502_Gly503=)	SNV	Uncertain Significance	302951	rs773497972	GRCh37: 11:119212576-119212576 GRCh38: 11:119341866-119341866
15	C1QTNF5, MFRP	NM_031433.4(MFRP):c.909G>C (p.Gly303_Asn304=)	SNV	Uncertain Significance	302961	rs777996384	GRCh37: 11:119215091-119215091 GRCh38: 11:119344381-119344381
16	C1QTNF5, MFRP	NM_031433.4(MFRP):c.-57C>T	SNV	Uncertain Significance	302985	rs139821533	GRCh37: 11:119217280-119217280 GRCh38: 11:119346570-119346570
17	C1QTNF5, MFRP	NM_031433.4(MFRP):c.1461C>A (p.Ile487_Trp488=)	SNV	Uncertain Significance	302953	rs202139926	GRCh37: 11:119212621-119212621 GRCh38: 11:119341911-119341911
18	C1QTNF5, MFRP	NM_031433.4(MFRP):c.271+10C>T	SNV	Uncertain Significance	302975	rs554865241	GRCh37: 11:119216746-119216746 GRCh38: 11:119346036-119346036
19	C1QTNF5, MFRP	NM_031433.4(MFRP):c.773-8A>C	SNV	Uncertain Significance	302966	rs143891457	GRCh37: 11:119215475-119215475 GRCh38: 11:119344765-119344765
20	C1QTNF5, MFRP	NM_031433.4(MFRP):c.-49G>A	SNV	Uncertain Significance	302984	rs201954533	GRCh37: 11:119217272-119217272 GRCh38: 11:119346562-119346562
21	C1QTNF5, MFRP	NM_031433.4(MFRP):c.971A>G (p.Gln324Arg)	SNV	Uncertain Significance	302958	rs142198552	GRCh37: 11:119215029-119215029 GRCh38: 11:119344319-119344319
22	C1QTNF5, MFRP	NM_031433.4(MFRP):c.976-14A>C	SNV	Uncertain Significance	302956	rs200069261	GRCh37: 11:119214688-119214688 GRCh38: 11:119343978-119343978
23	C1QTNF5, MFRP	NM_031433.4(MFRP):c.58G>A (p.Glu20Lys)	SNV	Uncertain Significance	302981	rs529716845	GRCh37: 11:119217081-119217081 GRCh38: 11:119346371-119346371
24	C1QTNF5, MFRP	NM_031433.4(MFRP):c.861C>T (p.Asp287_Gly288=)	SNV	Uncertain Significance	302963	rs140710522	GRCh37: 11:119215379-119215379 GRCh38: 11:119344669-119344669
25	C1QTNF5, MFRP	NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn)	SNV	Uncertain Significance	302952	rs886047830	GRCh37: 11:119212607-119212607 GRCh38: 11:119341897-119341897
26	C1QTNF5, MFRP	NM_031433.4(MFRP):c.192C>G (p.Arg64_Phe65=)	SNV	Uncertain Significance	302977	rs200143181	GRCh37: 11:119216835-119216835 GRCh38: 11:119346125-119346125
27	C1QTNF5, MFRP	NM_031433.4(MFRP):c.505C>T (p.His169Tyr)	SNV	Uncertain Significance	302969	rs886047834	GRCh37: 11:119216266-119216266 GRCh38: 11:119345556-119345556
28	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*652G>A	SNV	Uncertain Significance	302940	rs886047824	GRCh37: 11:119211606-119211606 GRCh38: 11:119340896-119340896
29	C1QTNF5, MFRP	NM_031433.4(MFRP):c.159T>C (p.Gly53_Arg54=)	SNV	Uncertain Significance	196561	rs372897338	GRCh37: 11:119216868-119216868 GRCh38: 11:119346158-119346158
30	C1QTNF5, MFRP	NM_031433.4(MFRP):c.496C>G (p.Pro166Ala)	SNV	Uncertain Significance	302970	rs145285193	GRCh37: 11:119216275-119216275 GRCh38: 11:119345565-119345565
31	C1QTNF5, MFRP	NM_031433.4(MFRP):c.807G>A (p.Gln269_Leu270=)	SNV	Uncertain Significance	302964	rs371537663	GRCh37: 11:119215433-119215433 GRCh38: 11:119344723-119344723
32	C1QTNF5, MFRP	NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)	SNV	Uncertain Significance	302979	rs147490836	GRCh37: 11:119216837-119216837 GRCh38: 11:119346127-119346127
33	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1879C>T	SNV	Uncertain Significance	302920	rs886047816	GRCh37: 11:119209790-119209790 GRCh38: 11:119339080-119339080
34	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1311G>A	SNV	Uncertain Significance	302926	rs368962202	GRCh37: 11:119210358-119210358 GRCh38: 11:119339648-119339648
35	C1QTNF5, MFRP	NM_031433.4(MFRP):c.1110+9G>A	SNV	Uncertain Significance	302930	rs771777653	GRCh37: 11:119210885-119210885 GRCh38: 11:119340175-119340175
36	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1463C>T	SNV	Uncertain Significance	302925	rs371634525	GRCh37: 11:119210206-119210206 GRCh38: 11:119339496-119339496
37	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1024G>A	SNV	Uncertain Significance	302931	rs886047819	GRCh37: 11:119210980-119210980 GRCh38: 11:119340270-119340270
38	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*1786C>A	SNV	Uncertain Significance	302921	rs886047817	GRCh37: 11:119209883-119209883 GRCh38: 11:119339173-119339173
39	C1QTNF5, MFRP	NM_031433.4(MFRP):c.854-13G>A	SNV	Uncertain Significance	302935	rs886047821	GRCh37: 11:119211163-119211163 GRCh38: 11:119340453-119340453
40	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*732G>T	SNV	Uncertain Significance	302938	rs886047823	GRCh37: 11:119211526-119211526 GRCh38: 11:119340816-119340816
41	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*865A>T	SNV	Uncertain Significance	302934	rs752870533	GRCh37: 11:119211139-119211139 GRCh38: 11:119340429-119340429
42	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*829G>A	SNV	Uncertain Significance	302937	rs886047822	GRCh37: 11:119211429-119211429 GRCh38: 11:119340719-119340719
43	C1QTNF5, MFRP	NM_031433.4(MFRP):c.-108G>A	SNV	Uncertain Significance	302988	rs143241967	GRCh37: 11:119217331-119217331 GRCh38: 11:119346621-119346621
44	C1QTNF5, MFRP	NM_031433.4(MFRP):c.897G>A (p.Ser299_Gly300=)	SNV	Uncertain Significance	302962	rs150284394	GRCh37: 11:119215343-119215343 GRCh38: 11:119344633-119344633
45	C1QTNF5, MFRP	NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser)	SNV	Uncertain Significance	302954	rs369531002	GRCh37: 11:119213327-119213327 GRCh38: 11:119342617-119342617
46	C1QTNF5, MFRP	NM_031433.4(MFRP):c.191G>A (p.Arg64His)	SNV	Uncertain Significance	302978	rs149376662	GRCh37: 11:119216836-119216836 GRCh38: 11:119346126-119346126
47	C1QTNF5, MFRP	NM_031433.4(MFRP):c.*198G>C	SNV	Uncertain Significance	302944	rs886047825	GRCh37: 11:119212060-119212060 GRCh38: 11:119341350-119341350
48	C1QTNF5, MFRP	NM_031433.4(MFRP):c.63C>A (p.Phe21Leu)	SNV	Uncertain Significance	302980	rs868687394	GRCh37: 11:119217076-119217076 GRCh38: 11:119346366-119346366
49	C1QTNF5, MFRP	NM_031433.4(MFRP):c.1106C>T (p.Ala369Val)	SNV	Uncertain Significance	302955	rs886047831	GRCh37: 11:119214544-119214544 GRCh38: 11:119343834-119343834
50	C1QTNF5, MFRP	NM_031433.4(MFRP):c.452C>A (p.Pro151Gln)	SNV	Uncertain Significance	302972	rs200291895	GRCh37: 11:119216319-119216319 GRCh38: 11:119345609-119345609

Copy number variations for Retinal Degeneration from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	66270	12	27288374	27369795	Insertion	STK38L	retinal degeneration

Sources

Expression for Retinal Degeneration

Search GEO for disease gene expression data for Retinal Degeneration.

Sources

Pathways for Retinal Degeneration

Sources

GO Terms for Retinal Degeneration

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.85	USH2A TULP1 RHO RD3 PRPH2 IQCE
2	photoreceptor outer segment	GO:0001750	9.65	TULP1 RHO RD3 PRPH2 CRB1
3	cellular anatomical entity	GO:0110165	9.62	USH2A PITPNM2 PITPNM1 CLN3
4	rod photoreceptor outer segment	GO:0120200	9.56	RHO RD3
5	photoreceptor inner segment	GO:0001917	9.4	USH2A TULP1 RHO RD3 PRPH2 CRB1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor cell maintenance	GO:0045494	9.92	USH2A TULP1 RHO CRB1
2	response to stimulus	GO:0050896	9.9	NR2E3 NRL PRPH2 RD3 RHO RPE65
3	phototransduction	GO:0007602	9.88	RHO PITPNM1 NR2E3
4	detection of light stimulus involved in visual perception	GO:0050908	9.86	TULP1 RPE65 PRPH2 CRB1
5	eye photoreceptor cell development	GO:0042462	9.85	CRB1 NR2E3 TULP1
6	photoreceptor cell outer segment organization	GO:0035845	9.78	PRPH2 CRB1
7	retina development in camera-type eye	GO:0060041	9.73	TULP1 RPE65 RHO RD3 PRPH2 NR2E3
8	retina morphogenesis in camera-type eye	GO:0060042	9.63	RPE65 CRB1
9	sensory perception of light stimulus	GO:0050953	9.61	USH2A RHO
10	visual perception	GO:0007601	9.6	USH2A TULP1 RPE65 RHO RD3 PRPH2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphatidylinositol transfer activity	GO:0008526	9.46	PITPNM2 PITPNM1
2	phospholipid transporter activity	GO:0005548	9.26	PITPNM2 PITPNM1
3	phosphatidylcholine transporter activity	GO:0008525	9.26	PITPNM2 PITPNM1
4	phosphatidylcholine binding	GO:0031210	9.1	RPE65 PITPNM2 PITPNM1

Sources

Sources for Retinal Degeneration

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: RTN016 MIFTS: 52	Retinal Degeneration Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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