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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	6103
Gene name	Retinitis pigmentosa GTPase regulator
Gene symbol	RPGR
Synonyms (NCBI Gene)	COD1CORDX1CRDPCDXRP15RP3XLRP3orf15
Chromosome	X
Chromosome location	Xp11.4
Summary	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

122

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

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

2136

Show/Hide Causal Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone dystrophy	Pathogenic	rs606231180, rs606231181	RCV001003190 RCV003324498
Cone dystrophy 1, X-linked	Pathogenic	rs606231180	RCV003151713
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs771214648, rs1601982595	RCV003883141 RCV000787708
Congenital stationary night blindness	Likely pathogenic	rs1555966753	RCV000504795
Macular degeneration, X-linked atrophic	Pathogenic; Likely pathogenic	rs2519822979, rs2519797884, rs771214648, rs138313492, rs2519780631, rs1555961852, rs2067114709, rs2067140471, rs2067187550, rs398122960	RCV003147756 RCV002465050 RCV001270912 RCV005050696 RCV003447702 RCV002496964 RCV005056864 RCV000010591 RCV002482156 RCV002498372
Macular dystrophy	Likely pathogenic	rs1555961220	RCV000505167
Myopia 25, autosomal dominant	Pathogenic	rs398122960	RCV005865228
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs62638648, rs2147291936, rs281865296, rs1601972255, rs1601931052, rs2067215010, rs2067844613	RCV005887716 RCV005930053 RCV005901882 RCV005912360 RCV005912359 RCV005913613 RCV005909217
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs281865301, rs62635001, rs62635002, rs62653029, rs281865304, rs281865296, rs62635010, rs62635009, rs62635011, rs62635013, rs62650215, rs62638627, rs62638626, rs62638639, rs62638640 View all (279 more)	RCV002444557 RCV002514519 RCV002514520 RCV002514521 RCV002514522 RCV002513914 RCV002513915 RCV002513916 RCV002513917 RCV003534331 RCV005089564 RCV001857419 RCV002513918 RCV005089565 RCV002514523 RCV003764784 RCV003534332 RCV001043143 RCV003534333 RCV003534334 RCV002514525 RCV002513919 RCV002513920 RCV002513921 RCV002550240 RCV002550232 RCV002538608 RCV002539738 RCV001849608 RCV001867282 RCV001874221 RCV002049236 RCV001972421 RCV001946583 RCV002008677 RCV001951491 RCV005095830 RCV003653594 RCV002516436 RCV002415301 RCV002417000 RCV005098428 RCV002571386 RCV003534904 RCV003534905 RCV003775487 RCV002571388 RCV003534906 RCV002573571 RCV002571389 RCV002573572 RCV002573573 RCV002573575 RCV003111567 RCV002573576 RCV002571391 RCV003071375 RCV003050601 RCV003064697 RCV003064698 RCV003050602 RCV003050603 RCV003050604 RCV003041437 RCV003050605 RCV003064699 RCV003064700 RCV003064701 RCV003064702 RCV003064703 RCV003041438 RCV003064704 RCV003050607 RCV003064705 RCV003064706 RCV003050608 RCV003075630 RCV003081679 RCV003087408 RCV003079244 RCV003075000 RCV003075001 RCV002602708 RCV002644515 RCV003114987 RCV002571690 RCV002601899 RCV002635098 RCV002667144 RCV002726275 RCV002730178 RCV002760609 RCV002740736 RCV002775596 RCV002780882 RCV002770224 RCV002823892 RCV002814827 RCV002797361 RCV002801246 RCV002802030 RCV002810181 RCV002833216 RCV002818989 RCV002806795 RCV002801633 RCV002819686 RCV002796839 RCV002810681 RCV002842043 RCV002846937 RCV002829620 RCV002834948 RCV002851684 RCV002851733 RCV002870674 RCV002866168 RCV002852574 RCV002881353 RCV002852326 RCV002858110 RCV002863448 RCV002902924 RCV002895694 RCV002872548 RCV002914596 RCV002949507 RCV002966655 RCV002943414 RCV002995033 RCV002517301 RCV003002345 RCV002979622 RCV003008318 RCV003014147 RCV003019060 RCV003023182 RCV003013288 RCV003021606 RCV003021607 RCV003021609 RCV003011675 RCV003005785 RCV003025697 RCV003012317 RCV003033508 RCV003003245 RCV003023259 RCV003014827 RCV003034123 RCV003045782 RCV003042680 RCV003022306 RCV003032124 RCV003030558 RCV003030247 RCV003032879 RCV003039573 RCV003052219 RCV003041136 RCV003050167 RCV003048338 RCV003048057 RCV003045112 RCV003534982 RCV005099269 RCV005099270 RCV005099275 RCV002512961 RCV000822760 RCV003534308 RCV002512962 RCV002512963 RCV002518809 RCV002518106 RCV003535004 RCV003536078 RCV003536337 RCV003536117 RCV003536369 RCV003535254 RCV003535559 RCV003535324 RCV003535544 RCV003535229 RCV003535230 RCV003535231 RCV003535232 RCV003535233 RCV003536554 RCV003536611 RCV003536613 RCV003536711 RCV003536817 RCV003536891 RCV003538181 RCV003648091 RCV003649830 RCV003647649 RCV003647653 RCV003649754 RCV003649790 RCV003647664 RCV003649704 RCV003650936 RCV003651069 RCV003650834 RCV003652311 RCV003652462 RCV003653693 RCV003653773 RCV003653774 RCV003653860 RCV003653848 RCV003653924 RCV003653908 RCV003654032 RCV003650202 RCV003649933 RCV003651663 RCV003651762 RCV003651763 RCV003831784 RCV003880319 RCV000473079 RCV001857215 RCV001865637 RCV002524409 RCV005091207 RCV002530868 RCV003534545 RCV002544690 RCV002536421 RCV002533856 RCV001856213 RCV003117662 RCV002549751 RCV002549752 RCV001387577 RCV002549126 RCV002549201 RCV002549202 RCV002549203 RCV001387576 RCV002549204 RCV002551700 RCV002549230 RCV002549294 RCV002549291 RCV003537387 RCV001070967 RCV005093398 RCV003650599 RCV002557909 RCV001862556 RCV001862855 RCV002554689 RCV005093420 RCV002554673 RCV002554686 RCV002554653 RCV002554703 RCV002554691 RCV005093403 RCV002554739 RCV002554774 RCV003537466 RCV003537467 RCV002555916 RCV003537465 RCV003537469 RCV005093402 RCV002554662 RCV005093400 RCV002554728 RCV003537471 RCV002554681 RCV002554699 RCV002554731 RCV002554761 RCV003537470 RCV005093410 RCV003117738 RCV001862579 RCV003650597 RCV002554823 RCV002557955 RCV003537472 RCV003537473 RCV002557964 RCV003537474 RCV001241427 RCV003647834 RCV002570457 RCV002570456 RCV005094197 RCV002570455 RCV002570454 RCV002568717 RCV002568716 RCV002570460 RCV002570459 RCV002570458 RCV003538637 RCV001854345 RCV002411921 RCV003538638 RCV002514384
Retinal disorder	Likely pathogenic; Pathogenic	rs1569237077, rs398122960	RCV006254147 RCV006445492
Retinal dystrophy	Pathogenic; Likely pathogenic	rs281865301, rs62635001, rs62635002, rs62653029, rs62635009, rs62638627, rs62638626, rs62638642, rs281865297, rs62638648, rs62650218, rs62640583, rs62640592, rs281865295, rs1799325384 View all (153 more)	RCV001073454 RCV001075424 RCV001073791 RCV001075085 RCV004815043 RCV001075528 RCV001074095 RCV001075153 RCV001074887 RCV001074192 RCV004815044 RCV004815045 RCV001073284 RCV001074897 RCV004815589 RCV004815599 RCV004815677 RCV004816985 RCV004816993 RCV004817000 RCV003889107 RCV001075867 RCV004817029 RCV004817030 RCV004817031 RCV004817032 RCV004817033 RCV004817201 RCV004817202 RCV004817203 RCV004794605 RCV003889215 RCV003889216 RCV004817204 RCV003889278 RCV001073875 RCV004817115 RCV004817123 RCV001073955 RCV004817177 RCV004817181 RCV000210316 RCV000225509 RCV000225612 RCV001074755 RCV001074702 RCV001074839 RCV001073428 RCV001074090 RCV004818323 RCV003890445 RCV003890446 RCV003890447 RCV003890449 RCV003890452 RCV003890453 RCV003890455 RCV003890458 RCV003890459 RCV003890460 RCV003890463 RCV003890465 RCV003890466 RCV003890467 RCV003890470 RCV004816712 RCV001074258 RCV001074872 RCV004817825 RCV004817860 RCV000678623 RCV001074629 RCV001073452 RCV001074961 RCV001075872 RCV004818025 RCV001073989 RCV003890148 RCV003890153 RCV001073760 RCV004818155 RCV004818154 RCV001074396 RCV004818171 RCV004818172 RCV001074324 RCV001075605 RCV001074981 RCV001074990 RCV001074314 RCV001074370 RCV001075840 RCV001073607 RCV001073899 RCV001074106 RCV001075699 RCV001073679 RCV001075485 RCV001073877 RCV001073819 RCV001073297 RCV001074199 RCV001073958 RCV001073853 RCV001073787 RCV001075056 RCV001075178 RCV001075844 RCV001073490 RCV001074135 RCV001075689 RCV001073231 RCV001073445 RCV001075588 RCV001075737 RCV001073277 RCV001073407 RCV001075707 RCV001074219 RCV001073656 RCV001074822 RCV001073999 RCV004813723 RCV001075181 RCV001073455 RCV001073550 RCV001073293 RCV001074593 RCV001074589 RCV001073773 RCV001075090 RCV001075438 RCV001073317 RCV001073337 RCV001073828 RCV001074138 RCV001073361 RCV001074932 RCV001073559 RCV001075140 RCV001073954 RCV001075042 RCV001074928 RCV001073475 RCV001075426 RCV001075491 RCV001074651 RCV001075197 RCV001075575 RCV001074807 RCV001074818 RCV001075446 RCV001073580 RCV001074905 RCV001075652 RCV001075696 RCV001073891 RCV001073336 RCV001073448 RCV004813735 RCV004813736 RCV004813740 RCV004813741 RCV004813753 RCV003890234 RCV004813840 RCV004814025 RCV004814028 RCV004814027 RCV001074955 RCV004814050 RCV004814052 RCV004815278 RCV001074291
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs62638633, rs2147197552, rs2147194427, rs2147203790, rs2147285764, rs2147291671, rs1569236971, rs2147193425, rs2147197770, rs2147197891, rs865977487, rs527236109, rs527236108, rs527236111, rs527236112 View all (97 more)	RCV000787714 RCV001724816 RCV001724817 RCV001724818 RCV001724819 RCV001724820 RCV001724821 RCV001724822 RCV001724823 RCV001724824 RCV001724825 RCV000132608 RCV000132609 RCV000132613 RCV000132614 RCV000162095 RCV001003203 RCV003324675 RCV003324676 RCV003324677 RCV001199548 RCV001199537 RCV000515735 RCV000504905 RCV000504714 RCV000505150 RCV000504954 RCV000504699 RCV000505061 RCV000504876 RCV000505049 RCV000505110 RCV000504988 RCV000504753 RCV001199546 RCV001199544 RCV001199539 RCV001199543 RCV001199811 RCV000761348 RCV000714294 RCV002272344 RCV001199549 RCV000787713 RCV000787712 RCV000787711 RCV000787710 RCV000787707 RCV000787706 RCV000787705 RCV000787716 RCV000787715 RCV000787884 RCV000990770 RCV000990772 RCV000990773 RCV000990774 RCV000990775 RCV000990777 RCV000990778 RCV000990779 RCV000990780 RCV000990781 RCV000990782 RCV001199554 RCV001199538 RCV001199759 RCV001003191 RCV001003192 RCV001003193 RCV001003194 RCV001003196 RCV001003197 RCV001003198 RCV001003200 RCV001003201 RCV001003202 RCV001003204 RCV001003205 RCV001003206 RCV001003199 RCV001199553 RCV001199552 RCV001199551 RCV001199547 RCV001199542 RCV001199541 RCV001199540 RCV001199536 RCV001199535 RCV001199534 RCV001199533 RCV001199760 RCV001199812 RCV001199764 RCV001199758 RCV001199765 RCV001199763 RCV001199762 RCV001199766 RCV001199767 RCV001724209 RCV001724210 RCV001724237 RCV001724235 RCV001724227 RCV001724242 RCV001724228 RCV001724239 RCV001724246 RCV001724277 RCV003230653 RCV001003195 RCV001724284
Retinitis pigmentosa 3	Likely pathogenic; Pathogenic	rs2067149319, rs2067196699, rs62635002, rs62653030, rs281865304, rs62638645, rs62640589, rs606231180, rs2147199844, rs2147200625, rs2147201026, rs2147261624, rs2147290510, rs2147197604, rs2147261738 View all (160 more)	RCV001352950 RCV001353034 RCV000010579 RCV002225285 RCV002225286 RCV005252748 RCV001251553 RCV001376426 RCV001376511 RCV001376227 RCV001376287 RCV001376343 RCV001376217 RCV001526700 RCV001526698 RCV001591862 RCV001591863 RCV001591864 RCV001591866 RCV001591867 RCV001591868 RCV002246455 RCV001807906 RCV002274221 RCV005253905 RCV003324572 RCV002249153 RCV002249154 RCV002249155 RCV002250297 RCV002250298 RCV002250299 RCV002250871 RCV002251050 RCV002255784 RCV003147754 RCV002288406 RCV003164456 RCV001251604 RCV002465050 RCV005235661 RCV005254103 RCV005254104 RCV004786810 RCV005869998 RCV003156398 RCV003989145 RCV005254135 RCV001251572 RCV005050696 RCV005250269 RCV005870094 RCV000010576 RCV000010577 RCV000010580 RCV000010584 RCV000010586 RCV001251568 RCV001251567 RCV001251575 RCV003234621 RCV003326206 RCV003445437 RCV003447702 RCV005002023 RCV003985906 RCV003991187 RCV004584256 RCV001591081 RCV001770374 RCV001251592 RCV000678620 RCV005252942 RCV000625592 RCV000678624 RCV000678621 RCV000678619 RCV000678625 RCV004546559 RCV000760974 RCV000760973 RCV001251569 RCV005253665 RCV001251539 RCV001270914 RCV003329357 RCV001251549 RCV001251605 RCV001004995 RCV002463461 RCV001027710 RCV001251574 RCV001251573 RCV001251570 RCV001251566 RCV001251543 RCV001251542 RCV001251536 RCV001251534 RCV001251533 RCV001251532 RCV001251531 RCV001251528 RCV001251524 RCV001251525 RCV001251520 RCV001251621 RCV001251620 RCV001270915 RCV001251618 RCV001251617 RCV001251616 RCV001251615 RCV001251614 RCV001251613 RCV001251608 RCV001251611 RCV001251612 RCV001251607 RCV001251602 RCV001251600 RCV001251599 RCV001251598 RCV001251596 RCV001251594 RCV001251591 RCV001251590 RCV001251589 RCV001251588 RCV001251587 RCV001251584 RCV001251585 RCV001251583 RCV001251577 RCV001251582 RCV001251581 RCV001251580 RCV001251579 RCV001251578 RCV001251565 RCV001251563 RCV001251562 RCV002069602 RCV001251529 RCV002468622 RCV001251558 RCV001199003 RCV001196775 RCV001251571 RCV001251541 RCV001251540 RCV001251538 RCV001251537 RCV001251530 RCV001251527 RCV001251522 RCV001251619 RCV001251610 RCV001251609 RCV001251603 RCV001251597 RCV001251595 RCV001251593 RCV001251586 RCV001251564 RCV001251561 RCV001251560 RCV001251559 RCV001251557 RCV001251556 RCV001251555 RCV001251554 RCV001251550 RCV001251545 RCV001251544 RCV001251519 RCV001253144 RCV000076907 RCV001270913 RCV001270916 RCV001270917
Retinitis pigmentosa 6	Likely pathogenic	rs2067562961	RCV001171309
RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS	Pathogenic; Likely pathogenic	rs2147248070, rs137852550	RCV003151714 RCV003151715
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	Pathogenic; Likely pathogenic	rs2519822979, rs2519797884, rs138313492, rs62638646, rs2519888415, rs2519780631, rs1555961852, rs2067187550, rs398122960	RCV002286325 RCV002465050 RCV005050696 RCV000010590 RCV003151716 RCV003447702 RCV002496964 RCV002482156 RCV002498372
RPGR-related disorder	Pathogenic; Likely pathogenic	rs1199880148, rs2519794803, rs62638634, rs606231180, rs606231181, rs1555961852, rs1601982595, rs1601922202	RCV003898716 RCV003395702 RCV004755727 RCV003389748 RCV004755728 RCV004755941 RCV004756038 RCV003396571
RPGR-related retinopathy	Likely pathogenic; Pathogenic	rs2067128124, rs2067149319, rs281865301, rs62635000, rs62635001, rs62635002, rs62635005, rs281865304, rs62635013, rs62638627, rs62638639, rs62638640, rs62638641, rs281865297, rs62638652 View all (84 more)	RCV005638148 RCV005415470 RCV005623293 RCV005623294 RCV005623295 RCV005415406 RCV005623298 RCV005623300 RCV005638094 RCV005638095 RCV005638096 RCV005638097 RCV005638098 RCV005638099 RCV005638100 RCV005415407 RCV005415408 RCV005638101 RCV005638102 RCV005623428 RCV005415471 RCV005623434 RCV005623439 RCV005638157 RCV005623443 RCV005638159 RCV005638160 RCV005415477 RCV005638168 RCV005415415 RCV005623473 RCV005623475 RCV005638104 RCV005638176 RCV005638178 RCV005638179 RCV005638180 RCV005638181 RCV003225994 RCV005638182 RCV005638183 RCV005638194 RCV005638195 RCV005623499 RCV005638196 RCV005623513 RCV005415416 RCV005638191 RCV005623495 RCV005638193 RCV005415421 RCV005638106 RCV005638202 RCV005415397 RCV005415398 RCV005638088 RCV003225923 RCV005638089 RCV005638090 RCV005638091 RCV005415426 RCV005638210 RCV005623544 RCV005415487 RCV005415431 RCV005415434 RCV005638115 RCV005638116 RCV005638117 RCV005638122 RCV005415443 RCV005638123 RCV005415459 RCV005638125 RCV005638126 RCV005623380 RCV005638127 RCV005415460 RCV005638137 RCV005638138 RCV005415464 RCV005638128 RCV005638136 RCV005638133 RCV005638135 RCV005638129 RCV005638142 RCV005638143 RCV005638132 RCV005638134 RCV005638141 RCV005638131 RCV005623389 RCV005623388 RCV005638139 RCV005638140 RCV005638130 RCV005415466 RCV005638145 RCV005623407 RCV005623406 RCV005638144 RCV005415400 RCV005638146 RCV005638147
See cases	Likely pathogenic; Pathogenic	rs2519828744, rs2519790827, rs1555961852, rs2067406342	RCV004584507 RCV004584508 RCV005913608 RCV005913609
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs527236108, rs2519822407, rs2067845149	RCV005886937 RCV005928441 RCV005912366
X-linked cone-rod dystrophy	Pathogenic; Likely pathogenic	rs2147227522, rs2519888989, rs2519799028, rs2519791671, rs2519789982, rs2519902575, rs2519902268, rs1468670683	RCV003128086 RCV003128088 RCV003128106 RCV003128107 RCV003128108 RCV003128112 RCV003128113 RCV003128114
X-linked cone-rod dystrophy 1	Likely pathogenic; Pathogenic	rs62653029, rs62635009, rs281865297, rs2147197281, rs2519822979, rs2519793311, rs2519828744, rs2519780839, rs2519797884, rs771214648, rs138313492, rs606231180, rs606231181, rs137852551, rs2519780631 View all (9 more)	RCV004566977 RCV002290961 RCV000678626 RCV002276514 RCV003147755 RCV002287220 RCV002290865 RCV003164455 RCV002465050 RCV000198843 RCV005050696 RCV000010588 RCV000010589 RCV000010596 RCV003447702 RCV003466260 RCV003466261 RCV003466262 RCV002496964 RCV005411535 RCV001809894 RCV002290587 RCV002482156 RCV002286702

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs1801687	RCV005887707
Adrenocortical carcinoma, hereditary	Benign	rs1801687	RCV005887709
Cervical cancer	Benign	rs147001251, rs374555833	RCV005921456 RCV005909096
Cholangiocarcinoma	Benign	rs1801687	RCV005887715
Colon adenocarcinoma	Benign	rs1801687	RCV005887706
Colorectal cancer	Benign	rs1801687	RCV005887711
Esophageal atresia	Uncertain significance	rs1328506002	RCV000984675
Gastric cancer	Benign; Likely benign	rs368767915	RCV005901222
Hepatocellular carcinoma	Benign	rs149742786	RCV005906989
Malignant tumor of esophagus	Benign	rs1801687	RCV005887708
Melanoma	Benign	rs1801687	RCV005887714
Pyloric stenosis	Uncertain significance	rs1328506002	RCV000984675
Thymoma	Benign	rs1801687	RCV005887713
Uterine carcinosarcoma	Benign	rs1801687	RCV005887712
Uterine corpus endometrial carcinoma	Benign	rs147001251	RCV005921457
Uveal melanoma	Benign	rs1801687	RCV005887710

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)