Retinitis Pigmentosa malady

NIH Rare Diseases: Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to breakdown and die, eventually resulting in vision loss. The first sign of RP is usually night blindness. As the condition progresses, affected individuals also develop tunnel vision. Sometimes RP occurs by itself (isolated RP), and other times it occurs with additional signs and symptoms (syndromic RP). Mutations in at least 50 genes have been found to cause RP. There is no cure for RP, however, there are a few treatment options to slow down the progression of the disease. These options include light avoidance, use of low-vision aids, and vitamin A supplementation.³⁰

MalaCards: Retinitis Pigmentosa, also known as retinitis pigmentosa 1, is related to retinitis and usher syndrome. An important gene associated with Retinitis Pigmentosa is RPGR (retinitis pigmentosa GTPase regulator), and among its related pathways are Visual Cycle in Retinal Rods and Phototransduction. The compounds serine and lipid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and retina, and related mouse phenotypes are vision/eye and endocrine/exocrine gland.

Genetics Home Reference: Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.¹⁷

OMIM: 180100

Aliases & Descriptions:

retinitis pigmentosa 6 7 15 30 43 retinitis pigmentosa 1 30 32 43 retinitis pigmentosa-1 6 33 rp 6 30

retinitis pigmentosa (disorder) 6 progressive cone-rod dystrophy 43 rp1 30

Disease types for retinitis pigmentosa family:

retinitis pigmentosa 11	retinitis pigmentosa 12
retinitis pigmentosa 13	retinitis pigmentosa 14
retinitis pigmentosa 15	retinitis pigmentosa 17
retinitis pigmentosa 18	retinitis pigmentosa 19
retinitis pigmentosa 20	retinitis pigmentosa 22
retinitis pigmentosa 23	retinitis pigmentosa 24
retinitis pigmentosa 25	retinitis pigmentosa 26
retinitis pigmentosa 28	retinitis pigmentosa 29
retinitis pigmentosa 3	retinitis pigmentosa 30
retinitis pigmentosa 31	retinitis pigmentosa 32
retinitis pigmentosa 33	retinitis pigmentosa 34
retinitis pigmentosa 35	retinitis pigmentosa 36
retinitis pigmentosa 4	retinitis pigmentosa 41
retinitis pigmentosa 6	retinitis pigmentosa 7
retinitis pigmentosa 9	retinitis pigmentosa-49
retinitis pigmentosa-45	retinitis pigmentosa-39
retinitis pigmentosa-50	retinitis pigmentosa-47
retinitis pigmentosa-48	retinitis pigmentosa-2
retinitis pigmentosa-38	retinitis pigmentosa-10
retinitis pigmentosa-46	retinitis pigmentosa-37
retinitis pigmentosa-27	retinitis pigmentosa-43
retinitis pigmentosa-40	retinitis pigmentosa 54
retinitis pigmentosa 51	retinitis pigmentosa-44

Diseases related to retinitis pigmentosa by text searches and GeneDecks gene sharing:

(show top 50)    (show all 618)

id	Related Disease	Score	Top Affiliating Genes
1	retinitis	37.2	ZNF513, PIM1, LRAT, PDC, PDE2A, CNGA1
2	usher syndrome	35.7	PCDH15, MYO7A, USH1G, USH1C, USH2A, CLRN1
3	rhyns syndrome	35.6	CNGA3, RDH12, SEMA4A, CEP290, CERKL, CDHR1
4	leber congenital amaurosis	35.6	LRAT, RDH12, SERPINF1, GUCA1A, GUCY2D, MERTK
5	retinal degeneration	35.5	LRAT, PDE2A, CNGB1, CNTF, RD3, RDH12
6	retinitis pigmentosa 3	34.5	ATL1, IQCB1, DMD, RPGRIP1, RPGR, PDE6D
7	pigmentary retinopathy	34.2	ZNF513, RDH12, SEMA4A, USH2A, CLRN1, BEST1
8	night blindness	33.9	ZNF513, LRAT, RDH5, RBP3, SAG, FLVCR1
9	anemia	33.3	PIM1, CLU, MVK, UBC, MT-ATP6, CERKL
10	blindness	33.3	ZNF513, LRAT, CNGA1, CNGA3, CNGB1, CNTF
11	retinitis pigmentosa 9	33.3	LOC100421404, AMPH, RP9P, RP9
12	retinitis pigmentosa 7	33.1	RHO, PRPH2, ROM1
13	retinal disease	33.1	CNGA3, CNTF, RDH5, RCVRN, RBP3, SERPINF1
14	retinitis pigmentosa 2, x linked	32.6	ARL2, ARL2BP, ARL3, TNPO1, TBCC, TBCD
15	macular dystrophy	32.4	RDH5, BEST1, GUCA1A, IMPG1, AMPH, RP1L1
16	macular degeneration	32.3	CNGA3, CNTF, SERPINF1, CLU, BEST1, FSCN2
17	retinitis pigmentosa, juvenile	32.1	LRAT, AIPL1, SPATA7
18	fundus albipunctatus	31.9	RDH5, RBP3, SAG, GRK1, GNAT1, RPE65
19	congenital stationary night blindness	31.7	RDH5, SAG, GRK1, GNAT1, NYX, RPE65
20	malaria	31.5	PIM1, PDE2A, CNTF, NAA38, PANK2, LGSN
21	hearing loss	31.4	PCDH15, MYO7A, USH1C, USH2A, CLRN1, MT-ATP6
22	fundus dystrophy	31.1	LRAT, RDH12, RDH5, BEST1, CEP290, CERKL
23	retinol binding protein	31.1	LRAT, RDH12, RDH5, RBP3, SAG, INS
24	usher syndrome type i	31.0	PCDH15, MYO7A, USH1G, USH1C, CDH23
25	age related macular degeneration	30.9	SERPINF1, CLU, BEST1, GUCA1A, MFRP, IMPG1
26	cone dystrophy	30.8	CNGA3, RDH5, RCVRN, SERPINF1, BEST1, GUCA1A
27	retinitis punctata albescens	30.4	RDH5, RBP3, RHO, PRPH2, ROM1, RLBP1
28	ataxia	30.3	KIFAP3, RDPA, RCVRN, USH1C, USH2A, MVK
29	breast cancer	30.2	SFRP2, UBC, IRS2, AR, GSN, TUBG1
30	fundus flavimaculatus	30.1	CRX, RHO, ABCA4, ELOVL4
31	maculopathy	30.0	SERPINF1, BEST1, IMPG2, APOE, AIPL1, ABCA4
32	nephronophthisis	29.9	CEP290, IQCB1, INVS, CC2D2A, IFT43, RPGRIP1L
33	usher syndrome, type 1f	29.8	PCDH15, MYO7A, USH1G, USH1C
34	usher syndrome type 3	29.7	PCDH15, MYO7A, USH1G, USH1C, USH2A, CLRN1
35	usher syndrome, type 1d	29.4	PCDH15, USH1C, CDH23
36	bardet-biedl syndrome	29.3	WDR19, KIF3A, PCDH15, RAB8A, USH1C, USH2A
37	keratoconus	29.2	LRAT, CNGA3, SERPINF1, MYO7A, GUCY2D, GSN
38	sensorineural hearing loss	29.1	PCDH15, MYO7A, USH1G, USH1C, USH2A, CLRN1
39	choroiditis	28.7	CNTF, VSX2, RCVRN, SERPINF1, USH2A, BEST1
40	lateral sclerosis	28.4	CNTF, KIFAP3, RCC1, PANK2, UBC, ATXN2
41	myofibrillar myopathy	28.2	CLU, GSN, TUBG1, DMD, RPS27A
42	was-related disorders	28.0	KIF3A, CEP290, INS, INVS, APOE, CC2D2A
43	dentatorubral-pallidoluysian atrophy	27.8	ATXN2, CALB2, RPS27A, GFAP, GAPDH
44	tuberculosis	27.8	PIM1, KIF3A, RDH12, RDH5, LGSN, MT-CYB
45	nonsyndromic deafness	27.7	PCDH15, MYO7A, USH1C, CDH23, GJB6, CRYM
46	olivopontocerebellar atrophy	27.5	USH2A, YWHAE, UBC, MT-ATP6, ATXN2, AR
47	retinoblastoma	27.4	VSX2, SFRP2, RCC1, RCVRN, RBP3, SERPINF1
48	primary biliary cirrhosis	27.4	LAMP1, INS, APOE, GPT, DMD, NR3C1
49	insulin resistance	27.2	CNTF, SERPINF1, RAB8A, CLU, YWHAE, IRS2
50	inclusion body myositis	27.2	CLU, GSN, APOE, TUBG1, RPS27A, DNAH8

Clinical features from OMIM: 180100

Approved drugs:

Drug clinical trials:

Cell-based therapeutics:

MalaCards organs/tissues related to retinitis pigmentosa:

²²

id	Organ / Tissue -> Anatomical Compartment -> Cell	Relevance
1	Eye -> Retinal Pigmented Epithelium -> Mature Retinal Pigmented Epithelium Cells	Potential therapeutic candidate, affected by disease
2	Eye -> Retinal Pigmented Epithelium -> Retinal Pigmented Epithelium Progenitor Cells	Potential therapeutic candidate, affected by disease

MGI Mouse Phenotypes related to retinitis pigmentosa:

²⁵ (show all 14)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye phenotype	MP:0005391	INF	PDE6G, NRL, NR2E3, NYX, DMD, PTPN11
2	endocrine/exocrine gland phenotype	MP:0005379	INF	PLIN2, CRYM, NR3C1, OTC, DMD, PTPN11
3	cellular phenotype	MP:0005384	INF	PLAT, SMC1A, NR3C1, NR2E3, CUL3, SRSF2
4	homeostasis/metabolism phenotype	MP:0005376	INF	PHYH, RHO, EDN1, ABCA4, ABCC6, RPE65
5	mortality/aging	MP:0010768	INF	CRB2, PLAT, RPGRIP1L, KPNB1, EDN1, ELOVL4
6	reproductive system phenotype	MP:0005389	INF	PHYH, PLIN2, PLAT, NR3C1, OTC, DMD
7	behavior/neurological phenotype	MP:0005386	INF	PHYH, PDE6B, KPNA1, ELOVL4, GFAP, PLAT
8	cardiovascular system phenotype	MP:0005385	INF	ABCA4, ABCC6, GFAP, TTPA, TIMP1, EDN1
9	growth/size phenotype	MP:0005378	INF	ELOVL4, PDE6B, PHYH, RPGRIP1L, PLAT, CRYM
10	nervous system phenotype	MP:0003631	INF	CYBB, MERTK, MFRP, GSN, INS, ARL3
11	liver/biliary system phenotype	MP:0005370	INF	RPGRIP1L, PLIN2, NR3C1, CUL3, OTC, PHYH
12	pigmentation phenotype	MP:0001186	INF	RLBP1, CRX, CRB1, PTPN11, TULP1, APOE
13	renal/urinary system phenotype	MP:0005367	INF	ABCC6, EDN1, RPGRIP1L, NR3C2, NR3C1, CYBB
14	hearing/vestibular/ear phenotype	MP:0005377	INF	GJB6, TULP1, PTPN11, DMD, CRYM, PLAT

Articles related to retinitis pigmentosa:

(show top 50)    (show all 606)

id	Title	Authors	Year	Affiliating Genes
1	A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. (21549338)	Tanackovic G.... Rivolta C.	2011	PRPF6
2	Oguchi disease masked by retinitis pigmentosa. (21922265)	Sonoyama H.... Miyake Y.	2011	SAG, GRK1
3	Phenotypic characterization of 3 families with autoso mal dominant retinitis pigmentosa due to mutations in KLHL7. (22084217)	Wen Y.... Hughbanks-Wheaton D.K.	2011	KLHL7
4	Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. (21618346)	Benaglio P.... Rivolta C.	2011	SNRNP200
5	Late onset retinitis pigmentosa. (22136677)	Avila-FernA!ndez A.... Cremers F.P.	2011	SPATA7
6	A novel mutation in retinitis pigmentosa GTPase regul ator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family . (20806050)	Sheng X.... Zhuang W.	2010	RPGR
7	Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa ( XLRP). (20238008)	Murga-Zamalloa C.... Khanna H.	2010	RPGR
8	Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71. (20398886)	Nishimura D.Y.... Sheffield V.C.	2010	C2orf71
9	Variable phenotypic expressivity in a Swiss family wi th autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene. (20309403)	Vaclavik V.... Munier F.L.	2010	PRPF3
10	Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. (19268277)	Wang H.... Chen R.	2009	SPATA7
11	Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. (17904189)	He S.... Khanna H.	2008	RPGR
12	Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. (18363170)	Wang C.... Minoshima S.	2008	RDH5
13	Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). (18385099)	Tam L.C.... Humphries P.	2008	IMPDH1
14	Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. (18385078)	Aleman T.S.... Jacobson S.G.	2008	RHO
15	Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. (17932117)	Gonzalez-Santos J.M.... Hu J.	2008	PRPF3
16	Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. (18552984)	Gandra M.... Govindasamy K.	2008	IMPDH1, RHO, PRPF31
17	Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa. (16916875)	Leroy B.P.... Manson F.D.	2007	ROM1
18	Molecular and cellular alterations induced by sustained expression of ciliary neurotrophic factor in a mouse model of retinitis pigmentosa. (17325188)	Rhee K.D.... Yang X.J.	2007	CNTF, PRPH2
19	A population-based epidemiological and genetic study of X-linked retinitis pigmentosa. (17724181)	Prokisch H.... Rosenberg T.	2007	RPGR, RP2
20	Retinitis pigmentosa and renal failure in a patient with mutations in INVS. (16522655)	O'Toole J.F.... Hildebrandt F.	2006	INVS
21	The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage. (16457815)	Yoon J.H.... Pfeifer G.P.	2006	RP2
22	A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP). (16427773)	Wilkie S.E.... Hunt D.M.	2006	KPNB1, KPNA1, PRPF31
23	Effect of rapamycin on the fate of P23H opsin associated with retinitis pigmentosa (an American Ophthalmological Society thesis). (17471359)	Kaushal S.	2006	LAMP1, GABARAPL1
24	Autosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid binding. (15882147)	Mortimer S.E.... Hedstrom L.	2005	IMPDH1
25	Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. (15994872)	Ziviello C.... Banfi S.	2005	IMPDH1, NRL, CRX
26	Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. (15570217)	Zhang Q.... Hejtmancik J.F.	2004	CNGA1
27	AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa. (12907141)	Smith A.J.... Ali R.R.	2003	MERTK
28	Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. (12592226)	Rivolta C.... Dryja T.P.	2003	ELOVL4
29	PTPN11 mutation in a young man with Noonan syndrome and retinitis pigmentosa. (12872825)	Schollen E.... Fryns J.F.	2003	PTPN11
30	Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa (12048676)	Zhang X.... Fu W.	2002	RP1
31	From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa (12224481)	Cremers F.P.... Hoyng C.B.	2002	ABCA4
32	Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19) (12353176)	Rudolph G.... Weber B.H.	2002	ABCA4
33	Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. (11527955)	Wada Y.... Tamai M.	2001	FSCN2
34	Five novel RPGR mutations in families with X-linked retinitis pigmentosa. (11180598)	Guevara-Fujita M.... Swaroop A.	2001	RPGR
35	Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. (11462235)	Miano M.G.... Ciccodicola A.	2001	RP2
36	Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. (10942419)	Chapple J.P.... Cheetham M.E.	2000	RP2
37	Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. (10775529)	Rivolta C.... Dryja T.P.	2000	USH2A
38	A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). (10725384)	Hong D.H.... Li T.	2000	RPGR
39	Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus. (10480356)	Zito I.... Hardcastle A.J.	1999	RPGR, RP2
40	Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients. (10077725)	Kucinskas V.... Bhattacharya S.	1999	PRPH2
41	RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. (10401007)	Kirschner R.... Berger W.	1999	RPGR
42	Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. (9895244)	Valverde D.... Baiget M.	1998	RBP3
43	Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. (9425888)	Martinez-Mir A.... Balcells S.	1998	ABCA4
44	Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. (10651485)	Miano M.G.... Ciccodicola A.	1998	RPGR
45	Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). (8646891)	van Soest S.... Bergen A.A.	1996	CACNA1S
46	Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. (8202715)	Kajiwara K.... Dryja T.P.	1994	ROM1
47	Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain. (8253795)	Sung C.H.... Nathans J.	1993	RHO
48	Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. (1358680)	Dryja T.P.	1992	RHO
49	Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. (1684223)	Kajiwara K.... Dryja T.P.	1991	PRPH2
50	Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa. (1974891)	Ringens P.J.... Dryja T.P.	1990	SAG, RBP3

Genes related to retinitis pigmentosa according to GeneCards:

(show top 50)    (show all 213)

id	Symbol	Description	Score	GeneCards Section Context
1	RPGR	retinitis pigmentosa GTPase regulator	11.1	Databases, Publications, Aliases & Descriptions, Proteins (show all 8 sections) Functions, Orthologs, Summaries, Transcripts
2	RP1	retinitis pigmentosa 1 (autosomal dominant)	11.1	Orthologs, Aliases & Descriptions, Transcripts, Publications (show all 5 sections) Summaries
3	PRPH2	peripherin 2 (retinal degeneration, slow)	11.1	Summaries, Publications, Aliases & Descriptions
4	RHO	rhodopsin	11.1	Summaries, Publications, Aliases & Descriptions
5	RP9	retinitis pigmentosa 9 (autosomal dominant)	11.1	Transcripts, Proteins, Summaries, Orthologs (show all 6 sections) Aliases & Descriptions, Publications
6	CERKL	ceramide kinase-like	11.1	Publications, Aliases & Descriptions, Summaries
7	RPGRIP1	retinitis pigmentosa GTPase regulator interacting protein 1	11.1	Aliases & Descriptions, Transcripts, Publications, Proteins (show all 6 sections) Orthologs, Summaries
8	RP2	retinitis pigmentosa 2 (X-linked recessive)	11.1	Transcripts, Orthologs, Publications, Summaries (show all 5 sections) Aliases & Descriptions
9	RPE65	retinal pigment epithelium-specific protein 65kDa	11.1	Summaries, Aliases & Descriptions, Publications
10	PRPF3	PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)	11.1	Publications, Aliases & Descriptions, Summaries
11	EYS	eyes shut homolog (Drosophila)	11.1	Summaries, Publications, Aliases & Descriptions
12	IMPDH1	IMP (inosine 5'-monophosphate) dehydrogenase 1	11.1	Publications, Summaries, Aliases & Descriptions
13	TOPORS	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	11.1	Summaries, Aliases & Descriptions, Publications
14	FLVCR1	feline leukemia virus subgroup C cellular receptor 1	11.1	Aliases & Descriptions, Summaries, Publications
15	FAM161A	family with sequence similarity 161, member A	11.1	Summaries, Aliases & Descriptions, Publications
16	SNRNP200	small nuclear ribonucleoprotein 200kDa (U5)	11.1	Aliases & Descriptions, Publications, Summaries
17	ROM1	retinal outer segment membrane protein 1	11.1	Publications, Summaries
18	CRB1	crumbs homolog 1 (Drosophila)	11.1	Summaries, Publications
19	ABCA4	ATP-binding cassette, sub-family A (ABC1), member 4	11.1	Summaries, Publications
20	PRPF31	PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)	11.1	Publications, Summaries, Orthologs
21	TULP1	tubby like protein 1	11.1	Publications, Summaries
22	FSCN2	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	11.1	Publications, Summaries
23	PRPF8	PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)	11.1	Summaries, Orthologs, Publications
24	SPATA7	spermatogenesis associated 7	11.1	Publications, Summaries
25	NRL	neural retina leucine zipper	11.1	Publications, Summaries
26	RGR	retinal G protein coupled receptor	11.1	Summaries, Publications
27	PDE6B	phosphodiesterase 6B, cGMP-specific, rod, beta	11.1	Publications, Summaries
28	RLBP1	retinaldehyde binding protein 1	11.1	Publications, Summaries
29	GUCA1B	guanylate cyclase activator 1B (retina)	11.1	Summaries, Publications
30	SEMA4A	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	11.1	Summaries, Publications
31	CNGA1	cyclic nucleotide gated channel alpha 1	11.1	Summaries, Publications
32	MERTK	c-mer proto-oncogene tyrosine kinase	11.1	Summaries, Publications
33	PDE6A	phosphodiesterase 6A, cGMP-specific, rod, alpha	11.1	Summaries, Publications
34	CNGB1	cyclic nucleotide gated channel beta 1	11.1	Summaries, Publications
35	ABHD12	abhydrolase domain containing 12	11.1	Summaries
36	PROM1	prominin 1	11.1	Summaries, Publications
37	USH2A	Usher syndrome 2A (autosomal recessive, mild)	11.1	Publications, Summaries
38	CA4	carbonic anhydrase IV	11.1	Publications, Aliases & Descriptions
39	DFCTRPS	Deafness, cataract, retinitis pigmentosa, and sperm abnormalities	11.1	Aliases & Descriptions
40	RPY	Retinitis pigmentosa, Y-linked	11.1	Aliases & Descriptions
41	RP29	retinitis pigmentosa 29 (autosomal recessive)	11.1	Aliases & Descriptions
42	RP23	retinitis pigmentosa 23 (X-linked recessive)	11.1	Publications, Aliases & Descriptions
43	RP24	retinitis pigmentosa 24 (X-linked recessive)	11.1	Publications, Aliases & Descriptions
44	RP6	retinitis pigmentosa 6 (X-linked recessive)	11.1	Aliases & Descriptions, Publications
45	RP35	retinitis pigmentosa 35 (autosomal dominant)	11.1	Aliases & Descriptions
46	RP32	retinitis pigmentosa 32 (autosomal recessive)	11.1	Publications, Aliases & Descriptions
47	RP22	retinitis pigmentosa 22 (autosomal recessive)	11.1	Aliases & Descriptions, Publications
48	MFRP	membrane frizzled-related protein	11.1	Publications, Summaries
49	C2orf71	chromosome 2 open reading frame 71	11.1	Publications, Summaries
50	ZNF513	zinc finger protein 513	11.1	Summaries, Publications

Pathways related to retinitis pigmentosa according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Visual Cycle in Retinal Rods36	11.0	RLBP1, RGS9, PRKCG, RHO, PDE6G, SAG
2	Phototransduction20	10.9	RGS9, CNGA1, CNGB1, RCVRN, GUCA1A, GUCA1B
3	Purine metabolism20	10.4	PDE6G, PDE6D, PDE6B, PDE6A, IMPDH2, IMPDH1
4	Spliceosome20	10.3	PRPF31, PRPF3, PRPF8, PRPF6, LSM2, SNRNP200
5	Cell cycle Spindle assembly and chromosome separation10	9.6	DCTN2, DCTN1, KPNB1, KPNA1, SMC3, SMC1A
6	Cell cycle_Spindle assembly and chromosome separation41	9.4	DCTN2, DCTN1, KPNB1, KPNA1, SMC3, SMC1A
7	Cellular Effects of Sildenafil36	INF	GNGT1, GNB1, GUCY2F, GUCY2D, , CNGB1

Compounds related to retinitis pigmentosa according to GeneDecks:

(show all 29)

id	Compound	Score	Top Affiliating Genes
1	serine32	INF	RP9, PLAT, NR3C2, NR3C1, SRSF2, CYBB
2	lipid32	INF	RHO, PHYH, RPE65, PLIN2, OTC, DMD
3	cysteine32	INF	GFAP, RHO, RPS27A, PLAT, NR3C2, TIMP1
4	11-cis-retinol32 18	12.2	RGR, RLBP1, ABCA4, RHO, RPE65, RBP3
5	guanylate32	11.0	GUCY2F, GUK1, GRK1, CRB1, RHO, DFNB31
6	zaprinast32 42	11.9	PDE6G, PDE6D, PDE6B, PDE6A, PDE2A
7	metarhodopsin ii32	10.9	RHO, GNGT1, GRK1, SAG
8	cgmp32	10.8	PDE2A, RGS9, EDN1, RHO, PDE6B, PDE6A
9	amp-pnp32	10.6	DNAH8, GRK1, GUCY2D, GUCA1A, PIM1
10	retinoid32	10.3	RHO, ABCA4, TIMP1, PGR, RLBP1, RGR
11	gdp32	10.0	TNPO1, RHO, EEF1A1, GBF1, TUBG1, GSN
12	vitamin a32 9 18 9	12.8	RPE65, RHO, ABCA4, TIMP1, PGR, RLBP1
13	butyrate32	9.5	DNAH8, TIMP1, GFAP, RPS27A, NR3C1, CYBB
14	alanine32	9.0	NR3C2, CRYM, RPE65, RHO, GFAP, TIMP1
15	streptozotocin32	8.9	TIMP1, GFAP, RPS27A, APOE, INS, SERPINF1
16	acetylcholine32 9 18 9	11.6	RPS27A, EDN1, GFAP, DNAH8, GAPDH, NR3C1
17	glutamine32	8.1	GFAP, TTPA, TIMP1, TIMP3, DNAH8, DCTN1
18	hydrogen32 18	INF	NR2E3, NR3C2, RPS27A, RHO, DNAH8, EEF1A1
19	arginine32	INF	RPS27A, RHO, LSM2, EDN1, GFAP, TTPA
20	gtp32	INF	TUBG1, RHO, LSM2, KPNB1, ABCA4, PRPF8
21	calcium32 9 18 9	INF	TNPO1, CACNA1F, CALB2, AMPH, GRK1, MERTK
22	retinoic acid32 42 18	INF	PLAT, RPE65, RPS27A, RHO, GFAP, TIMP1
23	adenylate32	INF	PLAT, RPS27A, GFAP, TIMP1, DNAH8, PGR
24	atp32	INF	RPS27A, CRYM, SMC3, SRSF2, CYBB, OTC
25	cycloheximide32	INF	RPS27A, EDN1, GFAP, TIMP1, PRPF8, PGR
26	aspartate32	INF	GFAP, TIMP1, DNAH8, PRPH2, SLC4A4, PGR
27	creatinine32	INF	PLAT, RPS27A, EDN1, GFAP, DNAH8, EEF1A1
28	potassium32 9 18 9	INF	GPT, DMD, NR3C2, CRYM, GFAP, SLC4A4
29	glutamate32	INF	RHO, RPS27A, RPGR, PLAT, NR3C2, OTC

Cellular components related to retinitis pigmentosa according to GeneDecks:

(show all 15)

id	Name	GO ID	Score	Top Affiliating Genes
1	synapse	GO:045202	INF	PRKCG, DFNB31, PLAT, TULP1, ARR3,
2	photoreceptor outer segment	GO:001750	INF	PROM1, C2orf71, RHO, PDC, PCDH15,
3	photoreceptor connecting cilium	GO:032391	INF	NPHP1, , , CEP290, IQCB1, ARL3
4	photoreceptor inner segment	GO:001917	INF	DFNB31, RHO, RP1, TULP1, AIPL1, GNAT1
5	cytosol	GO:005829	INF	PDE6B, PDE6G, LSM2, KPNA1, PDE6A, RPS27A
6	cilium axoneme	GO:035085	10.6	NPHP1, DNAI1, DNAH8, DNAH5, RP1, RP1L1
7	stereocilia ankle link complex	GO:002142	10.5	USH2A, GPR98, DFNB31
8	microtubule	GO:005874	10.4	DNAH8, DNAI1, DCTN1, DCTN2, EML1, GABARAPL1
9	centrosome	GO:005813	9.7	MAK, TUBG1, RPGRIP1L, RPGR, TTC8, DCTN1
10	membrane	GO:016020	INF	SRPX, NR3C1, PDE6B, ABCA4, DCTN2, OGFRL1
11	stereocilium	GO:032420	INF	PROM1, DFNB31, , FSCN2, ,
12	photoreceptor outer segment membrane	GO:042622	INF	ROM1, PROM1, RHO, GNAT1, , CNGA1
13	cilium	GO:005929	INF	NPHP4, NPHP3, DNAI1, , RP2, RPGRIP1
14	microtubule basal body	GO:005932	INF	RPGRIP1L, RPGR, TTC8, NPHP4, IFT88, IFT20
15	cytoplasm	GO:005737	INF	RPGRIP1L, RP1L1, RP2, RP1, KPNA1, KPNB1

Biological processes related to retinitis pigmentosa according to GeneDecks:

(show all 23)

id	Name	GO ID	Score	Top Affiliating Genes
1	sensory perception of sound	GO:007605	INF	DFNB31, CRYM, GJB6, GPR98, , CLRN1
2	cytosolic calcium ion homeostasis	GO:051480	INF	, , PDE6A, PDE6B
3	photoreceptor cell maintenance	GO:045494	INF	, , IQCB1, MAK, GPR98, TULP1
4	sensory perception of light stimulus	GO:050953	INF	DFNB31, GPR98, , CLRN1, USH2A,
5	cell death	GO:008219	INF	GAN, PRKCG, DCTN1, APOE, AR, FLVCR1
6	equilibrioception	GO:050957	INF	, CLRN1, , , , PCDH15
7	retina development in camera-type eye	GO:060041	11.0	PDE6B, RHO, PRPH2, NPHP1, NPHP4, PDE6A
8	phototransduction, visible light	GO:007603	11.0	ABCA4, RHO, PDE6B, RP1, AIPL1, GNAT1
9	phototransduction	GO:007602	11.0	RGR, RRH, OPN1LW, NR2E3, TULP1, GNGT1
10	maintenance of organ identity	GO:048496	10.8	NPHP3, GPR98, IQCB1, USH2A
11	photoreceptor cell development	GO:042461	10.8	RP1, RP1L1, ARL3
12	post-chaperonin tubulin folding pathway	GO:007023	10.8	RP2, TBCE, TBCD, TBCC
13	rhodopsin mediated signaling pathway	GO:016056	10.7	RHO, GRK1, SAG
14	rhodopsin mediated phototransduction	GO:009586	10.7	RHO, GRK1, SAG
15	photoreceptor cell outer segment organization	GO:035845	10.6	RP1, TOPORS, NPHP1
16	cilium assembly	GO:042384	10.5	TTC8, RPGR, RPGRIP1L, CC2D2A, ARL6, IQCB1
17	nuclear mRNA splicing, via spliceosome	GO:000398	10.3	PRPF31, PRPF3, PRPF8, PRPF6, LSM2, SMC1A
18	protein-chromophore linkage	GO:018298	10.3	RGR, RRH, OPN1LW, RHO
19	response to stimulus	GO:050896	INF	RDH12, RDH5, USH2A, CLRN1, , FAM161A
20	cell projection organization	GO:030030	INF	NPHP1, DNAI1, RP1L1, IFT20,
21	eye photoreceptor cell development	GO:042462	INF	CRB1, TULP1, GNGT1, GNAT1, CEP290,
22	visual perception	GO:007601	INF	OPN1LW, RRH, ROM1, RLBP1, RIMS1, RGR
23	cilium morphogenesis	GO:060271	INF	NPHP3, IFT88, , CC2D2A, GSN, ARL3

Molecular functions related to retinitis pigmentosa according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	INF	NR3C2, , PDE6D, , RHO, LSM2
2	photoreceptor activity	GO:009881	10.5	RGR, RRH, OPN1LW, RHO
3	calcium sensitive guanylate cyclase activator activity	GO:008048	10.5	RCVRN, GUCA1A, GUCA1B
4	cGMP binding	GO:030553	10.2	PDE2A, CNGA1, CNGA3, PDE6G