MCID: RTN016

Retinal Degeneration malady

Summaries for Retinal Degeneration

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22MalaCards
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MalaCards: Retinal Degeneration, also known as degeneration of retina (disorder), is related to peripheral retinal degeneration and leber congenital amaurosis. An important gene associated with Retinal Degeneration is PRPH2 (peripherin 2 (retinal degeneration, slow)), and among its related pathways are Visual Cycle in Retinal Rods and Phototransduction. The compounds 11-cis-retinol and threonine have been mentioned in the context of this disorder. Affiliated tissues include cortex, retina and kidney, and related mouse phenotypes are pigmentation and reproductive system.

Aliases & Descriptions for Retinal Degeneration

Sources:
6Disease Ontology, 7diseasecard, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH
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Aliases & Descriptions:

retinal degeneration 6 7 17 8 32 43
degeneration of retina (disorder) 6
abnormal degeneration 43
retina degeneration 6

External Ids:

SNOMED-CT40 95695004

Related Diseases for Retinal Degeneration

Sources:
13GeneCards, 14GeneDecks
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Diseases related to retinal degeneration by text searches and GeneDecks gene sharing:

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1peripheral retinal degeneration34.6CLN5, CLN3, RPGR, PRPH2, PRPH, ROM1
2leber congenital amaurosis32.7LRAT, RD3, RDH12, RDH8, SERPINF1, MYO7A
3age related macular degeneration32.5RDH8, SERPINF1, CLU, BEST1, GUCA1A, FGF2
4spinocerebellar ataxia type 732.5ATXN1, ATN1, ATXN7, CRX
5macular degeneration32.4CNTF, RDH8, SERPINF1, CLU, BEST1, ATXN7
6cerebellar ataxia31.5PAX6, ATXN1, ATN1, ATXN7, TMEM67, TBP
7night blindness30.5LRAT, RDH5, RBP3, CHM, SAG, GRK1
8macular dystrophy30.3RDH5, BEST1, BEST2, ATXN1, ATXN7, GUCA1A
9choroiditis30.0CNTF, RCVRN, SERPINF1, BMP6, USH2A, BEST1
10stickler syndrome29.9RDH8, SERPINF1, PAX6, CHM, SAG, OAT
11enhanced s-cone syndrome29.8GRK1, NR2E3, NRL, CRX
12choroideremia29.7RAB6A, RABGGTB, RABGGTA, CHM, ARSA, ABCA4
13retinal disease29.7LRAT, CNGB1, CNTF, RDH12, RDH5, MYO7A
14olivopontocerebellar atrophy29.2ATXN1, ATN1, ATXN7, GLUD1, TBP
15nephronophthisis29.1CEP290, TMEM67, RPGRIP1L, RPGRIP1, RPGR, PKD1
16blindness29.1LRAT, CNGB1, CNTF, RDH12, RDH5, RCVRN
17retinitis29.0LRAT, PDE2A, PDE3B, RERE, CNGB1, CNTF
18ataxia28.3RERE, RCVRN, USH1C, USH2A, PAX6, CEP290
19polycystic kidney disease28.1CLU, JUN, GNB3, TMEM67, PKD1, PKD2
20glaucoma27.8CNTF, SERPINF1, BMP6, RAB8A, CLU, BEST1
21neuronitis24.9PDE2A, PDE3B, CNGB1, CNTF, RCVRN, SERPINF1
22cerebritis24.3CNTF, BMP6, CLN5, CLN3, PAX6, BDNF
23fibrosis23.6BMP6, CLU, BEST1, BBS1, BBS7, XBP1
24obesity23.6PDE3B, CNTF, SERPINF1, BMP6, CLU, PAX6
25hepatitis22.3LRAT, PDE3B, CNTF, SERPINF1, BMP6, RAB8A
26cone dystrophy14.6RDH5, RCVRN, SERPINF1, BEST1, GUCA1A, GUCY2D
27pigmentary retinopathy14.6RDH12, USH2A, BEST1, PANK2, CHM, BBS1
28rhyns syndrome14.5RDH12, UNC119, LCA5, CEP290, CERKL, ATXN7
29fundus dystrophy14.4LRAT, RDH12, RDH5, RDH8, BEST1, BBS1
30chorioretinitis14.3RBP3, SERPINF1, PAX6, CHM, SAG, OAT
31hyperopia14.3LRAT, MYO7A, GUCY2D, MFRP, IMPDH1, TULP1
32retinitis punctata albescens14.3RDH5, RDH8, RBP3, RHO, PRPH2, ROM1
33fundus albipunctatus14.3RDH5, RDH8, RBP3, SAG, GRK1, RPE65
34partial central choroid dystrophy14.3UNC119, GUCA1A, GUCY2D, PITPNA, ABCA4, TIMP3
35choroidal dystrophy14.2RCVRN, SERPINF1, ARRB2, AIPL1, PITPNA, TIMP3
36keratoconus14.2LRAT, SERPINF1, MYO7A, GUCY2D, IMPDH1, ENO1
37congenital stationary night blindness14.2RDH5, GRK1, RPE65, PDE6B, RHO
38fundus flavimaculatus14.2ABCA4, PRPH2, ROM1, RLBP1
39nystagmus14.2LRAT, MYO7A, PAX6, GRK1, IMPDH1, TULP1
40maculopathy14.1SERPINF1, BEST1, BBS1, MTTP, AKR1B1, AIPL1
41vitelliform macular dystrophy14.1BEST1, BEST2, ABCA4, PRPH2, ROM1
42retinol binding protein14.1LRAT, RDH12, RDH5, RBP3, SAG, NTF3
43retinitis pigmentosa 714.1RHO, PRPH2, ROM1
44hereditary night blindness14.1RDH5, SAG, GRK1, RHO
45coloboma14.1RDH12, PAX6, LCA5, CEP290, GUCY2D, AIPL1
46mckusick-kaufman syndrome14.1BBS1, BBS2, BBS4, BBS7, MKKS
47laurence-moon syndrome14.0BBS2, MKKS, RPGRIP1, RPGR
48usher syndrome14.0MYO7A, USH1C, USH2A, LCA5, CDH23, GNAT2
49chorioretinal atrophy14.0SERPINF1, CHM, CRB1, COL2A1, C1QTNF5
50scotoma14.0UNC119, GUCY2D, ABCA4, PRPH, PRPF3

Graphical network of the top 20 diseases related to retinal degeneration:



Graphical network of diseases related to retinal degeneration

Clinical Features for Retinal Degeneration

Drugs & Therapeutics for Retinal Degeneration

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for retinal degeneration

Drug clinical trials:

Search ClinicalTrials for retinal degeneration

Search NIH Clinical Center for retinal degeneration

Search CenterWatch for retinal degeneration

Genetic Tests for Retinal Degeneration

Anatomical Context for Retinal Degeneration

Sources:
22MalaCards
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MalaCards organs/tissues related to retinal degeneration:

22
Cortex, Retina, Kidney, Liver, B cells, Pituitary

Phenotypes for genes affiliated with Retinal Degeneration

Sources:
25MGI
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MGI Mouse Phenotypes related to retinal degeneration:

25 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1pigmentation phenotypeMP:000118610.6SERPINF1, MYO7A, RABGGTA, BEST1, PAX6, UNC119
2reproductive system phenotypeMP:00053899.8PKD1, SMPD3, NRTN, PPP5C, GNAZ, MERTK
3taste/olfaction phenotypeMP:00053949.8MKKS, BBS4, BBS2, BBS1, BDNF, PAX6
4endocrine/exocrine gland phenotypeMP:00053799.7TUB, NRTN, SMPD3, PKD2, PITPNA, GLUD1
5renal/urinary system phenotypeMP:00053679.2COL2A1, PKD1, PKD2, TIMP3, NPHP1, NPHP3
6hematopoietic system phenotypeMP:00053979.1DKK3, TGFBI, HEPH, ELOVL4, PPP5C, DGKZ
7immune system phenotypeMP:00053878.3TIMP3, TSPAN32, GFAP, PKD2, PKD1, COL2A1
8behavior/neurological phenotypeMP:00053868.0CNTF, MYO7A, USH1C, DGKE, GDNF, PSIP1
9cardiovascular system phenotypeMP:00053857.8PKD2, PDE6B, RHO, NDP, C1QTNF5, PKD1
10normal phenotypeMP:00028737.7PKD1, COL2A1, CREBBP, PPP5C, PPEF1, PPEF2
11homeostasis/metabolism phenotypeMP:00053766.6MERTK, SPHK2, SPHK1, NTF3, SMPD3, CRB1
12growth/size phenotypeMP:00053786.5NTF4, PPP5C, SMPD3, CREBBP, CRYAB, RPGRIP1L
13vision/eye phenotypeMP:0005391INFHEPH, SLC1A1, CP, ROM1, RORB, RLBP1
14embryogenesis phenotypeMP:0005380INFTMEM67, TBP, SPHK2, SPHK1, PPP4C, CREBBP
15muscle phenotypeMP:0005369INFCRYAB, CREBBP, NRTN, NTF3, SPHK1, PKD1
16cellular phenotypeMP:0005384INFTSPAN32, GFAP, RHO, PDE6B, PITPNA, PKD2
17craniofacial phenotypeMP:0005382INFRPGRIP1L, CRYAB, CREBBP, HSPG2, COL2A1, PKD1
18digestive/alimentary phenotypeMP:0005381INFPKD1, COL2A1, CRYAB, CREBBP, NRTN, PKD2
19nervous system phenotypeMP:0003631INFGRK1, SPHK2, SPHK1, NTF3, NTF4, NR2E3
20mortality/agingMP:0010768INFNTF4, PPP4C, PPP5C, SMPD3, CRB1, CREBBP
21skeleton phenotypeMP:0005390INFCRYAB, RPGRIP1L, COL2A1, PKD1, NDP, TTC21B
22hearing/vestibular/ear phenotypeMP:0005377INFFGF2, HSPG2, CALB1, TUB, TULP1, COL2A1

Publications for genes affiliated with Retinal Degeneration

Sources:
35PubMed
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Articles related to retinal degeneration:

(show top 50)    (show all 163)
idTitleAuthorsYearAffiliating Genes
1TOPORS, implicated in retinal degeneration, is a cili a-centrosomal protein. (21159800)Chakarova C.F.... Bhattacharya S.S.2011TOPORS
2Functional analysis of BBS3 A89V that results in non- syndromic retinal degeneration. (21282186)Pretorius P.R.... Slusarski D.C.2011ARL6
3Expression and regulation of enzymes in the ceramide metabolic pathway in human retinal pigment epithelial cells and their relevance to retinal degeneration. (19765607)Zhu D.... Kannan R.2010SPHK1, SPHK2, CERK
4Gene therapy in the retinal degeneration slow model o f retinitis pigmentosa. (20238065)Cai X.... Naash M.I.2010PRPH2
5CNTF induces regeneration of cone outer segments in a rat model of retinal degeneration. (20209167)Li Y.... Wen R.2010CNTF, ARR3
6Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. (19710705)Sun X.... Li T.2010AIPL1, GRK1
7RPGR-containing protein complexes in syndromic and no n-syndromic retinal degeneration due to ciliary dysfunction. (20090203)Murga-Zamalloa C.A.... Khanna H.2009RPGRIP1, RPGR
8A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. (19430481)Khanna H.... Katsanis N.2009RPGRIP1, RPGR, RPGRIP1L
9Overexpression of a mutant form of TGFBI/BIGH3 induce s retinal degeneration in transgenic mice. (18568131)Bustamante M.... Schorderet D.F.2008TGFBI
10A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. (18978954)Ali M.... Inglehearn C.F.2008CERKL
11Mutation of a TADR protein leads to rhodopsin and Gq-dependent retinal degeneration in Drosophila. (19074021)Ni L.... Li H.S.2008RHO
12Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene. (17851265)Simonelli F.... Bandello F.2007PRPH
13Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function. (17174953)Ishiba Y.... Inana G.2007UNC119
14The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. (17251446)Zhang Q.... Guo X.2007FSCN2
15Paradoxical opsin expressing cells in the inner retin a that are augmented following retinal degeneration. (17445228)Semo M.... Jeffery G.2007OPN4
16A novel form of transducin-dependent retinal degeneration: accelerated retinal degeneration in the absence of rod transducin. (18055791)Brill E.... Lem J.2007RHO, GNAZ
17Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants. (16505355)Sieving P.A.... Bush R.A.2006CNTF
18Autoantibodies to p75/LEDGF, a cell survival factor, found in patients with atypical retinal degeneration. (16757148)Chin M.S.... Hooks J.J.2006PSIP1
19Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. (17249553)Shu X.... Wright A.F.2006C1QTNF5
20Molecular mechanisms of light-induced photoreceptor apoptosis and neuroprotection for retinal degeneration. (15610977)Wenzel A.... Reme C.E.2005ENDOG
21Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. (15877050)Cashman S.M.... Kumar-Singh R.2005RHO
22Cellular mechanisms of retinal degenerations: RPE65, ABCA4, RDS, and bicarbonate transporter genes as examples. (16374319)Bok D.2005RPE65, ABCA4
23Surmountable challenges in translating pigment epithelium-derived factor (PEDF) therapy from animal models to clinical trials for retinal degenerations. (16374323)Chader G.J.2005SERPINF1
24Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1. (15634774)Huttl S.... Biel M.2005CNGB1
25Constitutive opsin signaling: night blindness or retinal degeneration? (15059605)Lem J.... Fain G.L.2004RHO
26Factors that affect regulation of cGMP synthesis in vertebrate photoreceptors and their genetic link to human retinal degeneration. (11952089)Olshevskaya E.V.... Dizhoor A.M.2002GUCY2D, GUCA1A
27Role of Muller cells in retinal degenerations. (11578954)Bringmann A.... Reichenbach A.2001BMP6
28The mammalian retinal degeneration B2 gene is not required for photoreceptor function and survival. (11744244)Lu C.... Li T.2001PITPNM1
29A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. (10587575)Maw M.A.... Denton M.J.2000PROM1
30A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. (10805811)Akhmedov N.B.... Farber D.B.2000NR2E3
31A neuronal-specific mammalian homolog of the Drosophila retinal degeneration B gene with expression restricted to the retina and dentate gyrus. (10460238)Lu C.... Li T.1999PITPNM1
32Repeated injections of a ciliary neurotrophic factor analogue leading to long-term photoreceptor survival in hereditary retinal degeneration. (10235570)Chong N.H.... Luthert P.J.1999BDNF, CNTF
33Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. (10549638)Hagstrom S.A.... Li T.1999RHO, TULP1
34Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein. (10022914)Lev S.... Schlessinger J.1999PTK2B, PITPNM1, NOC2L
35A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration. (10409424)Acland G.M.... Aguirre G.D.1999RHO, PDE2A, PDE6B
36Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. (10393054)Gao Y.Q.... Farber D.B.1999PDE6C
37Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. (9425224)Del-Favero J.... Van Broeckhoven C.1998ATXN7
38Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C. (9326663)Sherman P.M.... Nathans J.1997PPEF1, PPEF2
39Cloning and characterization of human homologue of Drosophila retinal degeneration B: a candidate gene for degenerative retinal diseases. (9216063)Guo J.... Yu F.X.1997PITPNM1
40A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration. (8675686)Wang T.... Valle D.1996OAT
41A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. (7862413)Gorin M.B.... Stone E.M.1995PRPH2
42Chromosomal localization of three mouse diacylglycerol kinase (DAGK) genes: genes sharing sequence homology to the Drosophila retinal degeneration A (rdgA) gene. (7607687)Pilz A.... Fitzgibbon J.1995DGKQ
43Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. (8154871)Benomar A.... Brice A.1994RHO
44Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. (8485576)Wells J.... Fitzke F.1993PRPH2
45Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. (8380507)Seabra M.C.... Goldstein J.L.1993CHM, RABGGTA, RABGGTB
46Calcium channel blockers inhibit retinal degeneration in the retinal-degeneration-B mutant of Drosophila. (1309615)Sahly I.... Minke B.1992PITPNM1
47Multiple sulfatase deficiency with early severe retinal degeneration. (1875023)Harbord M.... Clarke J.T.1991ARSA, GALNS, ARSH
48The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. (1679750)Travis G.H.... Sutcliffe G.J.1991PRPH2
49Rhodopsin activation causes retinal degeneration in Drosophila rdgC mutant. (2361011)Steele F.... O'Tousa J.E.1990RHO
50Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). (2918924)Travis G.H.... Sutcliffe J.G.1989PRPH2

Expression for genes affiliated with Retinal Degeneration

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Retinal Degeneration

Pathways for genes affiliated with Retinal Degeneration

Sources:
36QIAGEN, 20KEGG, 41Thomson Reuters, 38Reactome, 3Cell Signaling Technology, 10EMD Millipore
See all sources

Pathways related to retinal degeneration according to GeneDecks:

(show all 28)
idPathwayScoreTop Affiliating Genes
1Visual Cycle in Retinal Rods3611.1LRAT, GNAT2, GNAZ, PPEF2, RPE65, PDE6B
2Phototransduction2010.9RHO, PDE6G, PDE6B, GNAT2, GRK1, ARRB2
3Glycerolipid metabolism2010.7DGKZ, DGKQ, DGKI, DGKE, DGKB, AKR1B1
4Retinol metabolism4110.6LRAT, RDH12, RDH5, RPE65, RHO
5Platelet activation, signaling and aggregation3810.6DGKZ, DGKQ, DGKI, DGKE, DGKB
6Sphingolipid metabolism2010.5ACER2, SMPD3, SPHK1, SPHK2, ARSA, CERK
7Relaxin Pathway3610.2GNB3, GNAZ, GNAT2, GUCY2D, JUN, PDE3B
8Neuroscience39.9SLC1A3, PSIP1, GFAP, RHO, TUBA1B, GLUD1
9Actin-Based Motility by Rho Family GTPases369.7GNB3, GNAZ, GNAT2, BDNF
10ERK Signaling369.5PSIP1, COL2A1, PTK2B, HSPG2, GNAZ, GNAT2
11Protein Acetylation and Deacetylation369.5EP300, TAF12, TAF9, TAF5L, CREBBP, TBP
12Histone modification109.3TAF12, TAF9, TAF5L, TADA3, SUPT3H, TRRAP
13eNOS Signaling369.1NUDT6, PRKAA1, PSIP1, NTF3, GNB3, MERTK
14Rho Family GTPases369.0PTK2B, NTF3, COL2A1, GFAP, TIMP3, PSIP1
15ERK5 Signaling369.0NUDT6, PSIP1, TIMP3, NTF3, GNB3, GNAZ
16ILK Signaling368.9NUDT6, PSIP1, TIMP3, COL2A1, NTF3, PTK2B
17Activation of PKC through GPCR368.9GNB3, NTF3, TIMP3, PSIP1, NUDT6, GNAZ
18MAPK Signaling368.9PTK2B, NTF3, COL2A1, TIMP3, PSIP1, NUDT6
19Transcription_Ligand-Dependent Transcription of Retinoid-Target genes418.7SUPT3H, CREBBP, TADA3, TAF5L, TAF9, TADA2A
20Transcription Ligand-Dependent Transcription of Retinoid-Target genes108.7EP300, TBP, SUPT3H, CREBBP, TADA3, TAF5L
21Activation of PKA through GPCR368.4GNB3, NTF3, CREBBP, TIMP3, PSIP1, NUDT6
22IP3 Pathway368.4CREBBP, TIMP3, PSIP1, NUDT6, EP300, NTF3
23CREB Pathway368.2EP300, NUDT6, PSIP1, TIMP3, CREBBP, NTF3
24Intracellular Calcium Signaling368.2NTF3, CREBBP, TIMP3, PSIP1, NUDT6, EP300
25Phospholipase-C Pathway368.2CREBBP, COL2A1, TIMP3, PSIP1, NUDT6, EP300
26cAMP Pathway368.2GNB3, PTK2B, NTF3, CREBBP, TIMP3, PSIP1
27Nuclear Receptor Activation by Vitamin-A368.1TAF9, TAF12, PSIP1, NUDT6, EP300, TAF5L
28Estrogen Pathway368.0CREBBP, TIMP3, TAF5L, TAF9, TAF12, PSIP1

Compounds for genes affiliated with Retinal Degeneration

Sources:
32Novoseek , 18HMDB, 42Tocris Bioscience, 9DrugBank
See all sources

Compounds related to retinal degeneration according to GeneDecks:

(show top 50)    (show all 91)
idCompoundScoreTop Affiliating Genes
111-cis-retinol32 18 12.1LRAT, RDH5, RBP3, RPE65, RHO, ABCA4
2threonine32 10.8MKKS, ARR3, ARRB2, GRK1, GLUD1, PPEF1
3guanylate32 10.8PDE2A, PDE3B, RCVRN, SERPINF1, SAG, GUCA1A
4r 59-02242 10.8DGKB, DGKE, DGKI, DGKQ, DGKZ
5dioctanoylglycol42 10.7DGKB, DGKE, DGKI, DGKQ, DGKZ
6cgmp32 10.6PDE2A, PDE3B, CNGB1, RCVRN, SAG, GUCA1A
7vitamin a32 9 18 9 13.6LRAT, RDH12, RDH5, RDH8, RBP3, SAG
8gtp32 10.5PDE2A, PDE3B, RAB6A, CHM, GUCY2D, GRK1
9ceramide32 10.4PDE3B, CLN3, CERK, JUN, ARSA, ENDOG
10fatty acid32 9.9PDE3B, RCVRN, RBP3, CLU, MTTP, TUBA1B
11retinoid32 9.9LRAT, RDH5, RBP3, BMP6, SAG, JUN
12lipid32 9.9PDE3B, CNTF, RCVRN, RAB6A, CLU, CLN3
13choline32 9 18 9 12.8CNTF, BDNF, HSPG2, CALB1, GLUD1, NTF3
14quinolinic acid32 18 10.8CNTF, BDNF, CALB1, NTF3, NTF4, GFAP
15glucose32 9.8CNTF, SERPINF1, PAX6, XBP1, ENO1, CALB1
16ly29400232 9.7JUN, CDKN3, FGF2, AIFM1, TIMP3, EP300
17oxygen32 18 10.6SERPINF1, CLU, PAX6, BDNF, SAG, JUN
18arginine32 9.6PDE2A, CNTF, CLN3, PAX6, ARSH, ENO1
19phosphoinositide32 9.5PDE3B, RAB6A, BDNF, SAG, XBP1, JUN
20cysteine32 9.4LRAT, RCVRN, SERPINF1, RAB6A, CLU, PANK2
21cyclic amp32 18 10.3PDE2A, PDE3B, CNGB1, CNTF, BDNF, SAG
22superoxide32 18 10.3PDE2A, PDE3B, CNTF, CLU, ENO1, ENDOG
23heparan sulfate32 18 10.2BMP6, ARSH, ARSA, FGF2, HSPG2, EXTL3
24dopamine32 9 18 9 12.2PDE3B, CNTF, BMP6, CLU, BDNF, SAG
25dbc-amp32 9.2PDE3B, BMP6, BDNF, CREBBP, GFAP, TIMP3
26acetylcholine32 9 18 9 12.2CNTF, BMP6, BDNF, CDKN3, HSPG2, CALB1
27potassium32 9 18 9 11.9PDE3B, CNGB1, CNTF, RCVRN, SERPINF1, BDNF
28pd 98,05932 8.9CNTF, BMP6, BDNF, JUN, FGF2, HSPG2
29wortmannin32 42 9.9PDE3B, CNTF, BDNF, JUN, CDKN3, HSPG2
30polyacrylamide32 8.9ATXN7, ARSA, GRK1, GLUD1, TUBA1B, DRD4
31alanine32 8.9PDE2A, CNTF, BMP6, PAX6, MTTP, SAG
32kainate32 8.9CLU, BDNF, JUN, CDKN3, HSPG2, CALB1
33aspartate32 8.9BMP6, BDNF, SAG, ARSA, ENO1, GLUD1
34bromodeoxyuridine32 8.8CNTF, BMP6, PAX6, BDNF, FGF2, CALB1
35adenylate32 8.8PDE3B, CNTF, BDNF, SAG, CDKN3, HSPG2
36forskolin32 42 9 9 11.8PDE3B, CNTF, BMP6, BDNF, JUN, HSPG2
37gaba32 42 9.6CNTF, BMP6, BDNF, CDKN3, HSPG2, CALB1
38h2o232 8.6CNTF, SERPINF1, BMP6, CLU, BDNF, JUN
39nmda32 42 9.6BDNF, CDKN3, INADL, FGF2, HSPG2, CALB1
40calcium32 9 18 9 11.5PDE2A, PDE3B, CNGB1, CNTF, RCVRN, SERPINF1
41glutamine32 8.5RERE, RBP3, BMP6, RAB6A, SAG, ATXN1
42okadaic acid32 42 9.4PDE3B, BMP6, SAG, JUN, CDKN3, PTK2B
43nitric oxide32 9 18 9 11.4PDE2A, PDE3B, CNTF, RBP3, SERPINF1, BMP6
44glutamate32 8.2CNGB1, SERPINF1, BMP6, CLU, CLN3, CDKN3
45atp32 8.2LRAT, PDE3B, RAB6A, CLU, CLN3, PANK2
46vegf32 7.8CNTF, SERPINF1, BMP6, CLU, BEST1, PAX6
47retinoic acid32 42 18 9.8LRAT, CNTF, RCVRN, RBP3, SERPINF1, BMP6
48phosphatidylinositol32 7.4PDE3B, CNTF, BMP6, RAB6A, BDNF, JUN
49serine32 7.0PDE3B, CNTF, SERPINF1, BMP6, RAB6A, CLU
50tyrosine32 6.6PDE3B, CNTF, SERPINF1, BMP6, RAB6A, CLU

GO Terms for genes affiliated with Retinal Degeneration

Sources:
12Gene Ontology
See all sources

Cellular components related to retinal degeneration according to GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00191711.1RHO, RP1, PPEF2, TULP1, AIPL1, GNAT2
2photoreceptor outer segmentGO:00175011.0MYO7A, PROM1, C2orf71, RHO, RP1, RPGR
3photoreceptor outer segment membraneGO:04262210.9ROM1, PROM1, PRPH, RHO, GNAT2, CDHR1
4stereociliumGO:03242010.7MYO7A, USH1C, FSCN2, CDH23, PROM1
5cilium membraneGO:06017010.7PROM2, TMEM67, ARL6, BBS7, BBS4, BBS2
6BBSomeGO:03446410.6ARL6, BBS7, BBS4, BBS2, BBS1
7cilium axonemeGO:03508510.4NPHP1, TTC21B, RP1, RP1L1, RPGRIP1L, IFT80
8ciliumGO:00592910.3NPHP4, NPHP3, PKD2, PKD1, RP2, RPGRIP1
9PCAF complexGO:00012510.1TAF12, TADA2A, TAF9, TRRAP
10centrosomeGO:0058139.8EP300, NPHP4, RPGR, RPGRIP1L, PPP4C, TMEM67
11membraneGO:0160209.7SPHK2, PITPNM1, PDE6B, ABCA4, NPHP1, NPHP4
12STAGA complexGO:0309149.3TAF12, TAF9, TAF5L, TADA3, SUPT3H, TRRAP
13transcription factor TFTC complexGO:0332769.3TAF12, TAF9, TAF5L, TADA3, SUPT3H, TRRAP
14extracellular spaceGO:0056158.4RS1, COL2A1, NDP, TGFBI, DKK3, PROM1
15cytoplasmGO:0057378.1CRYAB, RPGRIP1L, RP1L1, RP2, RP1, PKD1
16nonmotile primary ciliumGO:031513INFPKD2, BBS4, RAB8A,
17microtubule basal bodyGO:005932INFTMEM67, RPGRIP1L, RPGR, PKD2, NPHP4, IFT80
18photoreceptor connecting ciliumGO:032391INFNPHP1, TOPORS, RP1, RP1L1, CEP290, MYO7A
19motile ciliumGO:031514INFNPHP1, MKKS, BBS4, BBS2,

Biological processes related to retinal degeneration according to GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760111.5ABCA4, TIMP3, TGFBI, PRCD, PRPH2, OPN4
2phototransductionGO:00760211.0TULP1, NR2E3, PITPNM1, OPN4, TUB, GNAT2
3response to stimulusGO:05089611.0RDH5, RDH8, USH2A, CHM, BBS1, BBS10
4phototransduction, visible lightGO:00760311.0ABCA4, RHO, PDE6C, PDE6B, RP1, AIPL1
5photoreceptor cell maintenanceGO:04549411.0BBS4, CDHR1, CDH23, MKKS, TULP1, RP1L1
6retinal rod cell developmentGO:04654810.9BBS4, NRL, RP1, TOPORS
7nonmotile primary cilium assemblyGO:03505810.9MKKS, BBS4, BBS10, BBS1
8retina homeostasisGO:00189510.9AIPL1, BBS4, BBS10, BBS1
9sensory perception of light stimulusGO:05095310.9CDH23, USH2A, USH1C, MYO7A
10pigment granule aggregation in cell centerGO:05187710.9BBS4, BBS7, MKKS
11melanosome transportGO:03240210.9ARL6, MKKS, BBS7, BBS4, BBS2
12convergent extension involved in gastrulationGO:06002710.8BBS4, MKKS, NPHP3
13rhodopsin mediated phototransductionGO:00958610.8SAG, GRK1, RHO
14rhodopsin mediated signaling pathwayGO:01605610.8SAG, GRK1, RHO
15retinal cone cell developmentGO:04654910.7TOPORS, PDE6C, RP1, GNAT2
16cilium morphogenesisGO:06027110.7NPHP3, TMEM67, MKKS, CEP290, BBS7, BBS4
17eye photoreceptor cell developmentGO:04246210.7RORB, CRB1, TULP1, CEP290, PAX6, MYO7A
18negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.7MKKS, BBS2, BBS4
19retina development in camera-type eyeGO:06004110.7RHO, PRPH2, NPHP1, NPHP4, PDE6B, TULP1
20protein kinase C-activating G-protein coupled receptor signaling pathwayGO:00720510.7DGKZ, DGKQ, DGKI, DGKE, DGKB, SPHK1
21determination of left/right symmetryGO:00736810.6NPHP3, PKD2, RPGRIP1L, ARL6, MKKS, BBS7
22cilium assemblyGO:04238410.6RPGR, RPGRIP1L, TMEM67, ARL6, MKKS, CEP290
23equilibrioceptionGO:05095710.6MYO7A, USH1C, CDH23
24regulation of cilium beat frequency involved in ciliary motilityGO:06029610.5MKKS, BBS4, BBS2
25photoreceptor cell outer segment organizationGO:03584510.5NPHP1, TOPORS, RP1
26retina layer formationGO:01084210.4PROM1, TOPORS, RS1, CALB1
27sphingolipid metabolic processGO:00666510.4ACER2, SMPD3, SPHK1, SPHK2, ARSA, ARSH
28cell deathGO:00821910.2ACO2, SPG11, TBP, ATXN7, ATXN1, CIDEA
29retinol metabolic processGO:04257210.2RDH8, RDH5, RDH12, LRAT
30sensory perception of soundGO:00760510.2SLC1A3, NDP, COL2A1, TUB, ALDH7A1, CDH23
31regulation of retinal cell programmed cell deathGO:04666810.1BDNF, FGF2, CNTF
32mechanoreceptor differentiationGO:0424909.9BDNF, NTF3, NTF4
33negative regulation of apoptotic processGO:0430669.8EPO, PRKAA1, TAF9, TOPORS, COL2A1, NOC2L
34histone deubiquitinationGO:0165789.6SUPT3H, TRRAP, KAT2A, ATXN7
35histone H3 acetylationGO:0439669.6TAF12, TADA2A, TAF9, TAF5L, TADA3, SUPT3H
36transcription from RNA polymerase II promoterGO:0063669.3NRL, TAF5L, TAF9, TADA2A, TAF12, NR2E3

Molecular functions related to retinal degeneration according to GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol transporter activityGO:00852610.7PITPNC1, PITPNM1, PITPNA, PITPNM3
2G-protein coupled photoreceptor activityGO:00802010.5OPN4, ELOVL4, TULP1, TUB, GNAT2
3diacylglycerol kinase activityGO:00414310.5DGKZ, DGKQ, DGKI, DGKE, DGKB, SPHK1
4calcium sensitive guanylate cyclase activator activityGO:00804810.5GUCA1B, GUCA1A, RCVRN
5Rab geranylgeranyltransferase activityGO:00466310.5RABGGTB, RABGGTA, CHM
6protein serine/threonine phosphatase activityGO:00472210.1PPEF1, PPEF2, PPP4C, CDKN3, PPP5C
7metal ion bindingGO:0468729.8RPE65, PITPNM1, PDE6B, PDE6C, RHO, TIMP3
8growth factor activityGO:0080839.2GDNF, NUDT6, NDP, NRTN, NTF4, NTF3
9histone acetyltransferase activityGO:0044028.7EP300, TAF12, TADA2A, TAF9, TAF5L, TADA3
10transcription coactivator activityGO:0037138.0EP300, TAF12, TAF9, TAF5L, TADA3, CREBBP
11protein bindingGO:0055155.4TMEM67, NOC2L, RPGRIP1L, RP1L1, RPGRIP1, RP2

Sources for Retinal Degeneration

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS