Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6103
Gene name Gene Name - the full gene name approved by the HGNC.	Retinitis pigmentosa GTPase regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RPGR
Synonyms (NCBI Gene) Gene synonyms aliases	COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.4
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the

Show/Hide all(122)

SNP ID	Visualize variation	Clinical significance	Consequence
rs62638627	C>G,T	Not-provided, pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs62638632	T>C	Pathogenic	Splice acceptor variant
rs62638633	T>C	Not-provided, pathogenic	Splice acceptor variant
rs62638634	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs62638637	G>T	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs62638642	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs62638644	A>C	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs62638646	C>A,T	Not-provided, pathogenic, likely-pathogenic	Splice donor variant
rs62638651	G>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs62638654	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs62642057	C>T	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs137852549	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs137852550	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137852551	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs281865296	C>A,T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs281865297	AA>-,A	Pathogenic, not-provided	Frameshift variant, non coding transcript variant, coding sequence variant
rs281865302	CT>-,CTCT	Not-provided, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs369037463	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs398122960	CT>-	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs398123336	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs527236108	C>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs527236109	->TACC	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs527236111	AA>-	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs527236112	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs606231180	CC>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs606231181	TC>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs730882261	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs757714144	T>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs771039023	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant, stop gained
rs771214648	CT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs796065331	TTCTCAGGTTCTCCA>G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs869312185	G>C	Pathogenic	Intron variant, stop gained, coding sequence variant
rs878853374	G>A,T	Likely-pathogenic	Non coding transcript variant, intron variant, missense variant, stop gained, coding sequence variant
rs886041376	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs886044302	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs907856232	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs1057519236	C>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1060501181	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1064797364	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1064797365	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1346308311	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1410177435	C>T	Pathogenic	Intron variant
rs1555961220	C>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1555961350	TCCTTCCTCCC>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555961440	CCC>-,C	Pathogenic	Intron variant, inframe deletion, frameshift variant, coding sequence variant
rs1555961491	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1555961624	C>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1555961677	C>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1555961704	T>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555961787	C>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1555961832	TC>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555961849	CT>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555961852	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555961964	CTGT>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555962831	T>A	Pathogenic	Intron variant
rs1555962965	C>A	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs1555964122	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555964133	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555964576	->A	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555965081	TTTAA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555965107	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555965653	->T	Likely-pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1555965712	G>T	Likely-pathogenic	Intron variant
rs1555966699	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555966753	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555968248	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555968524	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555968526	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569235677	CTTC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569235803	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1569235999	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569236609	C>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1569236971	CC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569237077	CTCT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569237206	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569238659	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1569257917	GATCCAGGAGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1569258901	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1601890980	A>-	Pathogenic	Downstream transcript variant
rs1601891936	TG>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1601891967	TG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1601892395	CTCT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1601917052	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1601917999	TC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601918140	CC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601919915	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1601920131	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601920423	CC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601920532	TC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601920599	->CT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601922202	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601922877	T>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1601923388	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1601923578	CCTC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601923813	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1601924055	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601924111	TCTACCCTTGTCTTTCTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1601924184	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1601926125	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1601926845	G>C	Likely-pathogenic	Intron variant
rs1601931052	C>T	Pathogenic	Splice donor variant
rs1601940608	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1601943227	TCTT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1601943268	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1601943325	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1601943462	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1601947074	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1601951595	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1601951704	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1601961064	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1601961173	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1601972255	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs1601972449	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1601974881	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1601978817	->AGGTTGAGCACC	Likely-pathogenic	Splice donor variant
rs1601978823	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1601978925	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1601978991	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1601982474	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1601982516	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1601982532	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1601982595	C>T	Likely-pathogenic	Splice acceptor variant

Show/Hide all(28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019979	hsa-miR-375	Microarray	20215506
MIRT1315603	hsa-miR-1321	CLIP-seq
MIRT1315604	hsa-miR-134	CLIP-seq
MIRT1315605	hsa-miR-2909	CLIP-seq
MIRT1315606	hsa-miR-3118	CLIP-seq
MIRT1315607	hsa-miR-3162-5p	CLIP-seq
MIRT1315608	hsa-miR-3614-5p	CLIP-seq
MIRT1315609	hsa-miR-4717-5p	CLIP-seq
MIRT1315610	hsa-miR-4724-5p	CLIP-seq
MIRT1315611	hsa-miR-4739	CLIP-seq
MIRT1315612	hsa-miR-4753-5p	CLIP-seq
MIRT1315613	hsa-miR-4756-5p	CLIP-seq
MIRT1315614	hsa-miR-570	CLIP-seq
MIRT1315615	hsa-miR-943	CLIP-seq
MIRT1315616	hsa-miR-3140-3p	CLIP-seq
MIRT1315617	hsa-miR-4643	CLIP-seq
MIRT1315618	hsa-miR-466	CLIP-seq
MIRT1315619	hsa-miR-4711-5p	CLIP-seq
MIRT1315620	hsa-miR-4789-3p	CLIP-seq
MIRT1315604	hsa-miR-134	CLIP-seq
MIRT1315606	hsa-miR-3118	CLIP-seq
MIRT1315608	hsa-miR-3614-5p	CLIP-seq
MIRT1315609	hsa-miR-4717-5p	CLIP-seq
MIRT1315614	hsa-miR-570	CLIP-seq
MIRT1315615	hsa-miR-943	CLIP-seq
MIRT1315609	hsa-miR-4717-5p	CLIP-seq
MIRT1315610	hsa-miR-4724-5p	CLIP-seq
MIRT1315612	hsa-miR-4753-5p	CLIP-seq

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IBA
GO:0001750	Component	Photoreceptor outer segment	IDA	12140192
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	20631154
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
GO:0005515	Function	Protein binding	IPI	9990021, 19430481, 20631154, 20664800, 23559067, 25416956, 25910212, 26638075, 26871637, 27173435, 28514442, 30257685, 31515488, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005813	Component	Centrosome	IDA	15772089
GO:0005813	Component	Centrosome	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006886	Process	Intracellular protein transport	TAS	9990021
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	9399904
GO:0010508	Process	Positive regulation of autophagy	ISS
GO:0016567	Process	Protein ubiquitination	IBA
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0036064	Component	Ciliary basal body	ISS
GO:0036126	Component	Sperm flagellum	ISS
GO:0042073	Process	Intraciliary transport	IBA
GO:0042073	Process	Intraciliary transport	ISS
GO:0042462	Process	Eye photoreceptor cell development	ISS
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0060271	Process	Cilium assembly	IMP	21933838
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0097499	Process	Protein localization to non-motile cilium	IMP	20631154
GO:0097733	Component	Photoreceptor cell cilium	IEA

MIM	HGNC	e!Ensembl
312610	10295	ENSG00000156313

Protein

UniProt ID

Q92834

Protein name

X-linked retinitis pigmentosa GTPase regulator

Protein function

Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:20631154). GEF activity towards RAB8A may facilitate ciliary trafficking by modulating cil

PDB

4JHN , 4JHP , 4QAM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00415	RCC1	53 → 102	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	158 → 205	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	208 → 258	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	260 → 310	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	314 → 364	Regulator of chromosome condensation (RCC1) repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segme

Sequence

MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFG
SNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLG
LGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNV
CVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSE
IPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYI
SCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCH
MVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPD
SFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTK
EAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTE
NDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTIEAFSDEEVGNDTGQVGPQADTDGE
GLQKEVYRHENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLRE
REKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEGA
SESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKETKPIISKSMAK
YDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAE
DHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETI
EKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVP
SINQKIVKNNNEPLPEIKSIGDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL

Sequence length

1020

Interactions

View interactions

Show/Hide Causal Diseases (9)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ciliary dyskinesia	primary ciliary dyskinesia	rs1569235565, rs1060501181, rs62638639, rs1555961832, rs2067451355, rs62638634, rs62635009, rs2067172824, rs62638655, rs2067144007, rs62635002, rs2067876063, rs606231181, rs2067182636, rs62638642 View all (82 more)	N/A
Cone Dystrophy	cone dystrophy	rs606231181, rs606231180	N/A
Cone-rod dystrophy	X-linked cone-rod dystrophy 1	rs398122960, rs62653029, rs1186795749, rs1601972449, rs281865297, rs606231180, rs137852551, rs771214648, rs606231181, rs62635009	N/A
Macular Degeneration, X-Linked	macular degeneration, x-linked atrophic	rs2067140471, rs2067114709, rs771214648	N/A
retinal dystrophy	Retinal dystrophy	rs2067179633, rs1555965107, rs62640583, rs2067217398, rs62635002, rs2067187618, rs1186795749, rs2067190922, rs2067164096, rs2067985696, rs62638648, rs2067136586, rs2067193056, rs2067985165, rs2067186632 View all (103 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa 3, retinitis pigmentosa, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS	rs2067172824, rs62638648, rs1305342570, rs2067985165, rs771214648, rs2067185564, rs1601972255, rs2067127275, rs2067176160, rs1601947074, rs2067144007, rs1569238659, rs1601951595, rs606231181, rs771039023 View all (152 more)	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs771214648, rs1601982595	N/A
Congenital stationary night blindness	congenital stationary night blindness	rs1555966753	N/A
Macular dystrophy	macular dystrophy	rs1555961220	N/A

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amaurosis congenita of Leber type 1	Associate	33712029
Aphasia Conduction	Associate	35704304, 36562395
Blindness	Associate	21857984
Breast Neoplasms	Associate	26474971
Cataract	Associate	30313097
Choroideremia	Associate	28112135, 32970112
Ciliary Motility Disorders	Associate	33355362
Ciliopathies	Associate	29526738, 33355362
Color Vision Defects	Associate	20579627
Cone Dystrophy	Associate	20579627, 21866333, 24454928, 27620828, 31775781, 33805381, 36445968, 38069202, 8123616
Cone Rod Dystrophies	Associate	10970770, 23776498, 24454928, 29555955, 29769798, 32012938, 33805381, 35704304, 35806195, 36445968, 37541846, 37695603
Cone Rod Dystrophy X Linked 2	Associate	11590366, 11857109, 12807962, 15734019, 16505158, 7977377
Crohn Disease	Associate	35806195
Disease	Associate	33712029
Epileptic Syndromes	Associate	28294154
Genetic Diseases X Linked	Associate	16799052, 33446141
Glaucoma Open Angle	Associate	34427245
Granulomatous Disease Chronic	Associate	1895315
Hyperopia	Associate	28751151
Hypertensive Retinopathy	Associate	30312579
Intellectual Disability	Associate	8659520
Leber Congenital Amaurosis	Associate	32679846
Macular Degeneration	Associate	34110386
Macular dystrophy concentric annular	Stimulate	7977377
Macular Edema	Associate	32400255
Muscular Dystrophy Duchenne	Associate	8659520
Myopathies Nemaline	Associate	21866333, 24454928
Myopia	Associate	17093403, 20806050, 28751151
Myopia Degenerative	Associate	27995965, 31775781
Neuroacanthocytosis Mcleod Type	Associate	17300882
Night Blindness	Stimulate	10502575
Night Blindness	Associate	1357178
Night blindness congenital stationary	Associate	8933343
Progressive hearing loss stapes fixation	Associate	16799052, 27995965, 30543658, 33452396
Refsum Disease Infantile	Associate	34828430, 35456422
Retinal Cone Dystrophy 1	Associate	10502575, 21866333
Retinal Degeneration	Associate	21857984, 23150612, 25352739, 32970112, 35456422, 36562395
Retinal Diseases	Associate	23150612, 28559085, 31106594, 32423767, 35621151, 37284979, 40004550
Retinal Dystrophies	Associate	26197217, 28751151, 32012938, 32036094, 33712029, 34427245, 34985506, 36445968, 37284979, 37541846
Retinal Telangiectasis	Associate	16387007, 33446141
Retinitis Pigmentosa	Associate	10970770, 11992260, 12807962, 15364249, 16387007, 16917484, 17093403, 17898302, 18552978, 19834030, 19893586, 20579627, 20806050, 23150612, 23372056 View all (40 more)
Retinitis Pigmentosa 2	Associate	10502575, 11180598, 11283794, 11992260, 1357178, 14564670, 16052169, 16387007, 16902723, 17093403, 17898302, 18641288, 1895315, 19893586, 20806050 View all (47 more)
Retinitis Pigmentosa 3	Associate	10970770, 7611300
Retinitis Pigmentosa 6	Associate	20806050
Scotoma	Associate	33805381
Scotoma	Stimulate	7977377
Stargardt Disease	Associate	25544989
Vision Disorders	Associate	26143542, 32400255, 32970112, 35621151, 37510321
Vision Disorders	Stimulate	7977377
Vision Low	Associate	33805381
Walker Warburg Syndrome	Associate	23150612

RPGR (retinitis pigmentosa GTPase regulator)