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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23322
Gene name Gene Name - the full gene name approved by the HGNC.	RPGRIP1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RPGRIP1L
Synonyms (NCBI Gene) Gene synonyms aliases	COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q12.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndr

Show/Hide all(62)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61747071	C>T	Risk-factor, benign, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs74957591	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs121918197	T>A,G	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs121918198	T>G	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs121918199	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs121918200	C>G,T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs121918201	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs121918202	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs121918203	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs121918204	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs138155747	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs139067427	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs139503476	A>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs140067659	T>C	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs142349647	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs145665129	G>A	Pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs145807002	G>A,C	Pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146197239	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs146925098	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs267607020	A>G	Pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs373003699	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs386833997	T>C,G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs386833998	CATT>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs387906243	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs749987648	TTTT>-,TTT,TTTTT	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs751128300	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs751444506	G>A,T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs751477523	G>A	Pathogenic	Stop gained, genic downstream transcript variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs756821449	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, upstream transcript variant, genic upstream transcript variant
rs757594906	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs760952407	TTT>-,TT,TTTT	Likely-pathogenic, likely-benign	Inframe deletion, genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs766943204	A>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs767018622	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs778149316	->T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs778533826	G>A,C	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, missense variant
rs778824093	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs779429646	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs781683750	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs786204135	C>A,T	Likely-pathogenic	Genic upstream transcript variant, synonymous variant, splice donor variant, coding sequence variant, missense variant
rs797045104	->GA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, intron variant, coding sequence variant
rs797045918	->T	Likely-pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs863225215	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant, downstream transcript variant
rs863225216	T>-	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863225217	A>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs863225218	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant, genic upstream transcript variant
rs863225219	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs878855006	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs886041824	GTCATGTGCCAACGAAATCAGAGGCACAT>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1037406858	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, stop gained, non coding transcript variant
rs1057520162	C>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1057520790	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060501006	->A,AA	Uncertain-significance, pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs1156977888	C>A,T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1182447072	A>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1277577195	T>A	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1326042797	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1470967742	TT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs1555616593	G>A	Pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1567800920	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1598375579	G>A	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1598375731	T>C	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1598411105	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant

Show/Hide all(88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019863	hsa-miR-375	Microarray	20215506
MIRT026488	hsa-miR-192-5p	Microarray	19074876
MIRT036318	hsa-miR-1229-3p	CLASH	23622248
MIRT1315622	hsa-miR-1205	CLIP-seq
MIRT1315623	hsa-miR-149	CLIP-seq
MIRT1315624	hsa-miR-217	CLIP-seq
MIRT1315625	hsa-miR-3064-5p	CLIP-seq
MIRT1315626	hsa-miR-3126-3p	CLIP-seq
MIRT1315627	hsa-miR-3613-3p	CLIP-seq
MIRT1315628	hsa-miR-3653	CLIP-seq
MIRT1315629	hsa-miR-3658	CLIP-seq
MIRT1315630	hsa-miR-4418	CLIP-seq
MIRT1315631	hsa-miR-4687-3p	CLIP-seq
MIRT1315632	hsa-miR-4794	CLIP-seq
MIRT1315633	hsa-miR-509-3-5p	CLIP-seq
MIRT1315634	hsa-miR-509-5p	CLIP-seq
MIRT1315635	hsa-miR-1253	CLIP-seq
MIRT1315636	hsa-miR-1321	CLIP-seq
MIRT1315637	hsa-miR-1343	CLIP-seq
MIRT1315638	hsa-miR-140-3p	CLIP-seq
MIRT1315639	hsa-miR-22	CLIP-seq
MIRT1315640	hsa-miR-2278	CLIP-seq
MIRT1315641	hsa-miR-2964a-3p	CLIP-seq
MIRT1315642	hsa-miR-3121-5p	CLIP-seq
MIRT1315643	hsa-miR-3125	CLIP-seq
MIRT1315644	hsa-miR-3140-3p	CLIP-seq
MIRT1315645	hsa-miR-3173-3p	CLIP-seq
MIRT1315646	hsa-miR-3180-5p	CLIP-seq
MIRT1315647	hsa-miR-3185	CLIP-seq
MIRT1315648	hsa-miR-3192	CLIP-seq
MIRT1315649	hsa-miR-33a	CLIP-seq
MIRT1315650	hsa-miR-33b	CLIP-seq
MIRT1315651	hsa-miR-34a	CLIP-seq
MIRT1315652	hsa-miR-34c-5p	CLIP-seq
MIRT1315653	hsa-miR-3662	CLIP-seq
MIRT1315654	hsa-miR-3916	CLIP-seq
MIRT1315655	hsa-miR-3928	CLIP-seq
MIRT1315656	hsa-miR-4270	CLIP-seq
MIRT1315657	hsa-miR-4441	CLIP-seq
MIRT1315658	hsa-miR-449a	CLIP-seq
MIRT1315659	hsa-miR-449b	CLIP-seq
MIRT1315660	hsa-miR-450b-5p	CLIP-seq
MIRT1315661	hsa-miR-4528	CLIP-seq
MIRT1315662	hsa-miR-4668-3p	CLIP-seq
MIRT1315663	hsa-miR-4709-3p	CLIP-seq
MIRT1315664	hsa-miR-4712-3p	CLIP-seq
MIRT1315665	hsa-miR-4739	CLIP-seq
MIRT1315666	hsa-miR-4756-5p	CLIP-seq
MIRT1315667	hsa-miR-4779	CLIP-seq
MIRT1315668	hsa-miR-4789-5p	CLIP-seq
MIRT1315669	hsa-miR-500a	CLIP-seq
MIRT1315670	hsa-miR-501-5p	CLIP-seq
MIRT1315671	hsa-miR-507	CLIP-seq
MIRT1315672	hsa-miR-520a-5p	CLIP-seq
MIRT1315673	hsa-miR-525-5p	CLIP-seq
MIRT1315674	hsa-miR-548c-3p	CLIP-seq
MIRT1315675	hsa-miR-557	CLIP-seq
MIRT1920869	hsa-miR-3074-3p	CLIP-seq
MIRT1920870	hsa-miR-548al	CLIP-seq
MIRT1920871	hsa-miR-889	CLIP-seq
MIRT1920869	hsa-miR-3074-3p	CLIP-seq
MIRT1920870	hsa-miR-548al	CLIP-seq
MIRT1920871	hsa-miR-889	CLIP-seq
MIRT1315636	hsa-miR-1321	CLIP-seq
MIRT2093905	hsa-miR-3163	CLIP-seq
MIRT2093906	hsa-miR-3925-3p	CLIP-seq
MIRT1315656	hsa-miR-4270	CLIP-seq
MIRT2093907	hsa-miR-4436a	CLIP-seq
MIRT1315657	hsa-miR-4441	CLIP-seq
MIRT1315665	hsa-miR-4739	CLIP-seq
MIRT1315666	hsa-miR-4756-5p	CLIP-seq
MIRT2093908	hsa-miR-766	CLIP-seq
MIRT2318399	hsa-miR-4504	CLIP-seq
MIRT1315643	hsa-miR-3125	CLIP-seq
MIRT2093905	hsa-miR-3163	CLIP-seq
MIRT1315646	hsa-miR-3180-5p	CLIP-seq
MIRT1315654	hsa-miR-3916	CLIP-seq
MIRT2093906	hsa-miR-3925-3p	CLIP-seq
MIRT1315655	hsa-miR-3928	CLIP-seq
MIRT2318400	hsa-miR-425	CLIP-seq
MIRT2318401	hsa-miR-4517	CLIP-seq
MIRT2318402	hsa-miR-4645-3p	CLIP-seq
MIRT1315672	hsa-miR-520a-5p	CLIP-seq
MIRT1315673	hsa-miR-525-5p	CLIP-seq
MIRT2093908	hsa-miR-766	CLIP-seq
MIRT1315627	hsa-miR-3613-3p	CLIP-seq
MIRT1315653	hsa-miR-3662	CLIP-seq
MIRT2689926	hsa-miR-3926	CLIP-seq

Show/Hide all(52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001736	Process	Establishment of planar polarity	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001889	Process	Liver development	IEA
GO:0005515	Function	Protein binding	IPI	17558407, 19430481, 21565611, 27173435
GO:0005737	Component	Cytoplasm	IDA	17558409
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	17558409, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005911	Component	Cell-cell junction	IDA	21565611
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005929	Component	Cilium	IDA	17558409
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	17558409
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007420	Process	Brain development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0021532	Process	Neural tube patterning	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021670	Process	Lateral ventricle development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0031870	Function	Thromboxane A2 receptor binding	IBA
GO:0031870	Function	Thromboxane A2 receptor binding	IPI	19464661
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035869	Component	Ciliary transition zone	IDA	26595381
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036064	Component	Ciliary basal body	IDA	17558409
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043584	Process	Nose development	IEA
GO:0045744	Process	Negative regulation of G protein-coupled receptor signaling pathway	IDA	19464661
GO:0046548	Process	Retinal rod cell development	IBA
GO:0060039	Process	Pericardium development	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060322	Process	Head development	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0090102	Process	Cochlea development	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
610937	29168	ENSG00000103494

Protein

UniProt ID

Q68CZ1

Protein name

Protein fantom (Nephrocystin-8) (RPGR-interacting protein 1-like protein) (RPGRIP1-like protein)

Protein function

Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the le

PDB

2YRB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11618	C2-C2_1	597 → 738	First C2 domain of RPGR-interacting protein 1	Domain
PF00168	C2	790 → 899	C2 domain	Domain
PF18111	RPGR1_C	1145 → 1308	Retinitis pigmentosa G-protein regulator interacting C-terminal	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney. {ECO:0000269|PubMed:17434869, ECO:0000269|PubM

Sequence

MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDE
NILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVH
ELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKF
QDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKE
NEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLR
ISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKE
NYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKL
VQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFL
VKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENL
QQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHL
ERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQ
YLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTK
GDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLS
STDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDD
HMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELT
DHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAP
RPKPRQRLTPVDKKVSFVDIMPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPK
VSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSA
SDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRLPGSSDFPASASQVDGITGAC
HHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVY
YNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHV
DLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA

Sequence length

1315

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Anchoring of the basal body to the plasma membrane

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar vermis agenesis	familial aplasia of the vermis	rs1277577195, rs751477523, rs267604575, rs121918197, rs121918203, rs778149316, rs878855006, rs786204135, rs760952407, rs121918198, rs1057520162, rs121918204, rs771226563, rs767018622, rs121918199, rs145665129 View all (1 more)	N/A
Joubert Syndrome	joubert syndrome 7, Joubert syndrome and related disorders	rs121918200, rs267607020, rs863225215, rs1567800920, rs863225216, rs863225218, rs121918197, rs751477523, rs778149316, rs863225217, rs751444506, rs121918198, rs1200131247, rs121918204, rs797045104 View all (9 more)	N/A
Joubert syndrome with congenital hepatic fibrosis	COACH syndrome 1	rs1200131247	N/A
Meckel Syndrome	meckel syndrome, type 5	rs121918201, rs386833998, rs121918202, rs121918203	N/A
Meckel-Gruber Syndrome	meckel-gruber syndrome	rs121918203	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Joubert Syndrome With Renal Defect	Joubert syndrome with renal defect	N/A	N/A	GenCC
Leprosy	Leprosy	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar
Nephronophthisis	nephronophthisis	N/A	N/A	ClinVar
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	17960139, 18565097, 18950740, 19574260, 33432080, 35858853, 37993833, 38013309, 40393193
Alstrom Syndrome	Associate	22876109
Bipolar Disorder	Associate	21254220, 31033179, 31754094
Ciliopathies	Associate	19058225, 21068128, 29455858
COACH syndrome	Associate	19574260
Diabetes Mellitus Type 2	Associate	18426861, 31754094
Dyskinesia Familial with Facial Myokymia	Associate	37993833
Glycosuria Renal	Associate	35858853
Hepatic Fibrosis Congenital	Associate	19574260
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	35858853
Kidney Failure Chronic	Associate	37993833
Meckel syndrome type 1	Associate	18565097, 19777577, 21493627
Nephronophthisis familial juvenile	Associate	17960139
Obesity	Associate	29657248
Retinitis Pigmentosa	Associate	33808286
Retinitis Pigmentosa 2	Associate	21857984, 31953110
Vision Disorders	Associate	31953110
Vitiligo	Associate	23678272

RPGRIP1L (RPGRIP1 like)