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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	65250
Gene name Gene Name - the full gene name approved by the HGNC.	Ciliogenesis and planar polarity effector complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CPLANE1
Synonyms (NCBI Gene) Gene synonyms aliases	C5orf42, Hug, JBTS17, OFD6
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

Show/Hide all(108)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34161326	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs116237993	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs138495618	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs139675596	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs139940282	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs141153181	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs141507441	G>A	Pathogenic	Non coding transcript variant, downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs141911199	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs142777778	C>A,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs144081297	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs145520487	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs147416429	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs149170427	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs149313666	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs151279194	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice acceptor variant
rs199810663	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, downstream transcript variant, genic downstream transcript variant
rs200444162	G>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs202103224	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs367543061	G>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs367543062	C>T	Pathogenic	Splice donor variant
rs367543063	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs367543064	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs369786012	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs372655878	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs373704405	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs374144275	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs375009168	G>A,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs530569572	A>C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs533310477	T>C,G	Likely-pathogenic, uncertain-significance, likely-benign	Missense variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs565629362	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs566190241	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs606231258	C>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs606231259	T>-	Pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs606231260	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs606231261	C>G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs730882217	TC>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs749421099	G>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs749523755	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs750972473	CCCTCT>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, splice donor variant, downstream transcript variant
rs755097302	G>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant, stop gained
rs756856188	C>T	Pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs759649053	T>C,G	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs759881074	A>C,G,T	Likely-pathogenic	Non coding transcript variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, synonymous variant, stop gained
rs760906097	G>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs762334514	G>A,C,T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, missense variant, non coding transcript variant
rs768675259	CA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs770758833	C>-	Pathogenic	Coding sequence variant, frameshift variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs770770257	A>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs773362418	C>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs775263897	T>-,TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs776886962	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs777686211	A>-,AA	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs779680371	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs794727154	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs794727691	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, frameshift variant
rs863225152	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225153	C>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs863225154	C>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs863225155	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs863225156	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863225157	TA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs863225158	G>A,C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs863225159	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs863225161	->T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs863225162	C>A	Pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs863225163	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs863225164	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs863225165	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs863225166	G>A,C	Uncertain-significance, pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs863225167	T>G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs869312898	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs886041688	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs886041757	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886041870	A>G	Pathogenic	5 prime UTR variant, intron variant, genic upstream transcript variant, splice donor variant
rs886043786	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs957588958	G>A	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs962476553	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1019442092	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs1057519066	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1064796131	GGATGTA>AT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1085307795	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1187142382	TT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1228082731	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1242532564	AG>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1280425167	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1305821156	A>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1321423759	A>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs1327245073	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1345413118	T>A,C	Pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1381740657	G>A	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, stop gained
rs1414913269	C>G	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs1482303814	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1554050342	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554064102	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554068790	GG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554080188	C>A	Likely-pathogenic	Splice donor variant
rs1554083251	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554084360	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554114025	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs1554117456	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs1561376123	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1561458987	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1561584225	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1561655920	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1579888631	->G	Pathogenic	Non coding transcript variant, frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1580084520	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1580686235	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1580686437	->G	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant

Show/Hide all(7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005929	Component	Cilium	IEA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	25877302

MIM	HGNC	e!Ensembl
614571	25801	ENSG00000197603

Protein

UniProt ID

Q9H799

Protein name

Ciliogenesis and planar polarity effector 1 (Protein JBTS17)

Protein function

Involved in ciliogenesis (PubMed:25877302, PubMed:35582950). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) comp

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15392	Joubert	2839 → 3190	Joubert syndrome-associated	Family

Sequence

MEIRLEILTSTGIKQKKPWPRVSWLGKEKEAVFLLDDKFINEINLLSGKIKKKIPSLQPF
LKDVIVLTTSSNDAWLAGVLTTGELFLWNKDQDCLKTIPITEKPKEMIKATVASSLRLYL
YVSGNGKRIVLITPSGCIFLWEYLELKNILSSKSLSLAGRWSQVIPEEAVLLPSTEDKEA
VVNAVFIKNELFGDCCLCSFTFYSGECLKLTFLAIRWHENVFTSVRSLPYHVHWAQQDCH
LCSLIPKCESVKSRGALISAFSRDGLTLAVTLNQKDPKATQVLFINTLNFVTLCGSLKGC
SNKSPVVPATLIRSYWVGDISWTHDSLFLACMLKRGSLVLLTCQGELLTLITFGCSIEFG
PAEFIPLHPLITYRPQQFTFQDSNNSVDSSASDSDPMRQRFSIKAHSRLPYLVISDGYMV
TTLRFLDSLSPSVHMRSLLLDSTQRLEKIYQSVILSKPKGKGLNLRSLNSLRSSLLEHQG
NESSADFTVPKFLQAEETINENAADFQDFEAEETNEGRHFPDNLCPFWNKRDDVLCSSMK
EGRLEFASMFDTIHAKDDSEETDRTITELHSIQKSLLAAWTIGISKTVTEKNLMLNYIVV
CITHFFYILQFIKCPFPKLDLVLSKSSRHNAWILCIFQLFHQCLSIHYWDIRYKQDVGHL
IKLTSNTVKLLLTQQQKGQLFSEKLLACFYLLKMVADNLNGVYILQPEVISASADGSKIT
AQDSLVVPIFQMFQDSGFQKNWSWNSFFKIHPQVVNPVQQPGHRLLILWRILYKKTLWYQ
AQLNRRVPEADSQLTEKMTHEASTVKSLLCHLQANLQSTGDCLNQTLELKSINGEECFLL
GSYEKSVQLWKKALQEIEEKGGRRTYFLQIRYYLSLLYCHLYSYNLNDAQGLCDQLAREI
LRWSQLPVKENKDFSGAAKSHFECGMVGGVHPEAAVRVVQSMARFMAAYFTNQQLCILPP
HHVNVLPPLHIKTEQSFRLIPLQHSKVASVVRDQNLSNVWTVEYALELLFIGGLVPEAVW
LAYKLGDWKTSVSIGVAFQLFCKRDSNFMRSKKKSLNLPLRMTPAQIFQEKLQCVLGQPA
SLEAKNEMGSKYKQFTDPIEEEDANLLFGSVQEVLKASVMADADILSETFQLLIDSAKDF
SKRLWGLVPFGLYLPAPPLYCPQPAILSEEDGDDLLLKAEKNNRQKVSGILQRVLLLFRA
AQCSFPVAQWYILQLRWARKVMQKIRMKGSLPSLSPFPQSLLNYCKGGIAFFRPGAAGDH
KLDEVSIRAIGCFRELCALCWMLHVRDKLSYSCRQYQKARENVKGEKDLEVEFDSCMIEH
CLSAVEWAYRMLPFSRFFNMEELIQDIILSLIGELPPIRKVAEIFVKAFPYPEDVRVPLR
DKYHSLHQRLRHCVVKGPQTEEMMSVVMHSIQKVRVKALKRVQRNIGSFEVNIWEPIEEE
KPDEAPGVDRYSLGTSLSRSTLTELGDSVVHSDADTFSEALSVEEKSRINIYQRNAPNHM
ELTSIHKPTDKRKMCNQKENPTKKEDHEKLSQNTLPVIGVWEFERDDDEYIKFLDLFLSY
ILERDLPYSRDADIPFLTSFSGKLREHELNSLLFDVHTTLKRHQSKTKSQNVFRAGSCFV
VAPESYESEKSSSLNDEYGMHLENQKLSSSVLVNQGIKPFLQYPSNEVNKNEGMSGLFGL
KQRSIYKIQDDTREKCLIQRSSNHIFWTPKSIKTRRCIFKAIQCNDINPQEDLPLALNTF
GSIGRLLEWMIRWSNRRLLCDSGITESSSEYSPVIRVKTSTAAILTSLWLLEQPYFATYK
AKNAIIKMVENRDTGCQIGPNIERESKSDAGGSVAVATPGGTEERNGQNKSCQNILNRMP
TEAKNPDIKEINDDIISITHNTKKEFIDIDENLLEVEAFTEEEMDMHISDYEEDIEESVG
GFRSPSLAICMMTLPQQLEEEFTEEVQCQREEPLETIMEEKSTEQKGMIEAFSHPGHTTP
QSMQVDTSSEISSAQISTYKEKSSSVPLLISNGVNVASQPPAPTPQKTQRNEFTAQLPDC
SESVRQMLQDEMFKLVQLQQINFMSLMQIVGSSFANLPDTQQLVQQSQSVHLGESQESNL
RGCGDVEDSNKNLKERFFIKPQSMGENAREPRKNSPHCHEGTIPSGQNSTGNVQNVPHGS
IPLCQLNGQPRKKGPIPSSQNLPSTSFYPAPAGNTHLYLLSTPSVVQKAPRLIPHAKTFS
PGDGFPLLQFKSKQEFQPLFLHTGSIPQVPFRPLPQPREAWGLSDSFQPALPQRAAQTTP
ASHLNVSQYNTEARKKEVEQKTWAETVITEIPNHVNLDQYVGQENLTPQQDSSVFIKPEK
LFDVKPGTLEISPHHSFGLPLLYLPLKPPNMFPSTSRASITVPSTPIQPIAEERKYPRLS
LLHSHLSPENRCKKTQLIPLENLIAFKQSQQKLTHNLFEQGDAGHLQLLKVKIEPPEVRQ
GKDSKKRQRRRAEKELQEKRCEKLRRKPNVTFRPENSIINNDDSEIIKKPKEQQEHCGSH
PLDDFDVPFEMLQDDNTSAGLHFMASVKKKAIGSQDASTNTDPEHEPLTAPQLLVPDVYL
NLKLSSEMSEKPWSPSIPHTVTNLELPVREEPSNDNVIKQQSDHLAVPSSAELHYMAASV
TNAVPPHNFKSQGLPKPEFRFKGQSTKSDSAEDYLLWKRLQGVSAACPAPSSAAHQLEHL
SAKLQKIDEQLLAIQNIAENIEQDFPKPEMLDLHCDKIGPVDHIEFSSGPEFKKTLASKT
ISISEEVRFLTHMDEEDQSDKKETSEPEFSITENYSGQKTCVFPTADSAVSLSSSSDQNT
TSPGMNSSDELCESVSVHPLQMTGLTDIADIIDDLIIKDGVSSEELGLTEQAMGTSRIQH
YSGRHSQRTDKERREIQAWMKRKRKERMAKYLNELAEKRGQEHDPFCPRSNPLYMTSREI
RLRQKMKHEKDRLLLSEHYSRRISQAYGLMNELLSESVQLPTLPQKPLPNKPSPTQSSSC
QHCPSPRGENQHGHSFLINRPGKVKYMSKPSYIHKRKSFGQPQGSPWPHGTATFTIQKKA
GGAKAAVRKATQSPVTFQKGSNAPCHSLQHTKKHGSAGLAPQTKQVCVEYEREETVVSPW
TIPSEIHKILHESHNSLLQDLSPTEEEEPEHPFGVGGVDSVSESTGSILSKLDWNAIEDM
VASVEDQGLSVHWALDL

Sequence length

3197

Interactions

View interactions

Show/Hide Causal Diseases (4)

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	rs565629362, rs374144275, rs762334514	N/A
Joubert Syndrome	joubert syndrome 17, joubert syndrome 1, Joubert syndrome and related disorders	rs779680371, rs770758833, rs863225159, rs367543062, rs200444162, rs1280425167, rs863225165, rs863225153, rs756856188, rs1554084360, rs1579888631, rs863225164, rs730882217, rs141507441, rs863225156 View all (38 more)	N/A
Orofaciodigital Syndrome	orofaciodigital syndrome type 6	rs606231261, rs863225159, rs730882217, rs869312898, rs766699868, rs606231258, rs149170427, rs141153181, rs606231259, rs777686211, rs147416429, rs606231260, rs375009168, rs749523755	N/A
Nephronophthisis	nephronophthisis	rs756856188, rs777686211	N/A

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	22425360, 25407461, 25846457, 25920555, 29146704, 29955609, 29961766, 33010677, 33794348
Congenital Abnormalities	Associate	25407461
Craniocerebral Trauma	Associate	33794348
Hamartoma	Associate	25407461
Hydatidiform Mole	Associate	29955609
Hypothalamic hamartomas	Associate	25407461
Intellectual Disability	Associate	34452636
Meckel syndrome type 1	Associate	23169490
Orofaciodigital syndrome 6	Associate	25407461, 25846457
Orofaciodigital Syndromes	Associate	29961766
Polydactyly Postaxial	Associate	25920555
Psychotic Disorders	Associate	26479702
Schizophrenia	Associate	26479702

CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1)