CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1)

Gene

• Entrez ID: 65250
• Gene name: Ciliogenesis and planar polarity effector complex subunit 1
• Gene symbol: CPLANE1
• Synonyms (NCBI Gene): C5orf42, Hug, JBTS17, OFD6
• Chromosome: 5
• Chromosome location: 5p13.2
• Summary: 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]

SNPs

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

Gene ontology (GO)

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

Other IDs

• MIM: 614571
• HGNC: 25801
• e!Ensembl: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CPLANE1-related disorder	Likely pathogenic; Pathogenic	rs891693382, rs1554064102, rs147416429, rs863225161, rs863225164, rs760906097, rs863225158, rs777686211, rs756856188, rs886043786, rs201292596, rs2547569603, rs766699868	RCV003941037 RCV003390945 RCV006261959 RCV003417730 RCV003401086 RCV003897435 RCV003955215 RCV003907753 RCV003907754 RCV005863089 RCV003406250 RCV003982780 RCV006261990	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dysgenesis of the cerebellar vermis	Likely pathogenic	rs1774291665, rs1787294032	RCV001257354 RCV001257353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocele	Likely pathogenic	rs1774291665, rs1787294032	RCV001257354 RCV001257353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic; Likely pathogenic	rs730882217, rs775263897, rs749523755, rs777686211	RCV000162127 RCV000415331 RCV000415153 RCV000414845	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs750972473	RCV005870636	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jaundice	Pathogenic; Likely pathogenic	rs775263897, rs749523755, rs777686211	RCV000415331 RCV000415153 RCV000414845	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs2150435584, rs762200857, rs374144275, rs565629362, rs762334514, rs1775783657	RCV001449801 RCV003227076 RCV001849341 RCV000626084 RCV000826097 RCV001264613	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Pathogenic; Likely pathogenic	rs377142277, rs863225154, rs1777654334, rs755097302, rs367543061, rs1305821156, rs1280425167	RCV001730758 RCV000987513 RCV003444088 RCV001729596 RCV003444055 RCV000987515 RCV000987517	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 17	Likely pathogenic; Pathogenic	rs150242262, rs926409425, rs777045246, rs2150128669, rs1188561908, rs2150932899, rs1579740974, rs1285358729, rs1581014582, rs1796033726, rs141153181, rs1784470848, rs2150870227, rs747815682, rs1244119341, rs1398880084, rs1779035528, rs606231259, rs606231260, rs375009168, rs769934551, rs730882217, rs1778446608, rs2548575756, rs777686211, rs794727154, rs546670307, rs762200857, rs374144275, rs863225154, rs770758833, rs863225153, rs141507441, rs863225155, rs1554064102, rs775263897, rs863225152, rs147416429, rs749523755, rs863225159, rs863225156, rs768675259, rs863225157, rs863225161, rs863225162, rs773362418, rs863225166, rs863225165, rs863225164, rs760906097, rs776886962, rs863225163, rs863225158, rs530569572, rs779680371, rs756856188, rs2547674026, rs2548378897, rs149170427, rs886041688, rs886043786, rs201292596, rs2546659372, rs2547067845, rs2547728684, rs2547580119, rs2547580013, rs1408712462, rs755097302, rs367543061, rs367543062, rs367543064, rs367543063, rs139675596, rs770770257, rs200444162, rs1554084360, rs749421099, rs962476553, rs759881074, rs1327245073, rs1554117456, rs1345413118, rs1381740657, rs1561584225, rs1187142382, rs1414913269, rs1561601398, rs1202341886, rs1482303814, rs762334514, rs1305821156, rs1280425167, rs1579888631, rs1580084520, rs1580686235, rs766699868, rs1359437084, rs769153428, rs1051234664, rs1333914993, rs1799919744, rs1775821411, rs1796703260, rs1796678879, rs753791198	RCV001332491 RCV005036682 RCV001536071 RCV001535857 RCV001568420 RCV001806347 RCV004577555 RCV001813901 RCV001823705 RCV005032084 RCV002503596 RCV005042572 RCV005031989 RCV002490050 RCV005032104 RCV003136375 RCV002484800 RCV000193986 RCV005031649 RCV000501748 RCV003150836 RCV000201763 RCV002471473 RCV005034613 RCV002492734 RCV000611123 RCV005045373 RCV006249827 RCV000201669 RCV000201749 RCV000201659 RCV000201559 RCV000201530 RCV000201591 RCV000201751 RCV000201534 RCV000201730 RCV000201646 RCV000201628 RCV000201773 RCV000201681 RCV000201582 RCV000201611 RCV000201678 RCV000201619 RCV000201725 RCV000201644 RCV000201737 RCV000201687 RCV000201577 RCV000201748 RCV000201667 RCV000201525 RCV000201655 RCV000201623 RCV000201783 RCV000201692 RCV000201554 RCV000201603 RCV000201674 RCV003159556 RCV003219182 RCV001004928 RCV002503976 RCV002480033 RCV005036782 RCV003494067 RCV005036913 RCV005038548 RCV003885399 RCV004577699 RCV004595373 RCV000694430 RCV000024218 RCV000024219 RCV000024220 RCV000024221 RCV000024222 RCV000599682 RCV000611750 RCV000607941 RCV005034036 RCV002476026 RCV005034078 RCV002491089 RCV005034196 RCV000646712 RCV005046956 RCV000689626 RCV004796280 RCV005046960 RCV002485844 RCV005036105 RCV000785944 RCV005047124 RCV005047159 RCV005036257 RCV001004931 RCV001004927 RCV001004932 RCV002505565 RCV002471017 RCV005036395 RCV005047301 RCV005036476 RCV001254121 RCV001261930 RCV001261941 RCV001265532 RCV001267675	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs926409425, rs1433509643, rs769934551, rs2547526348, rs777686211, rs769127057, rs374144275, rs530569572, rs756856188, rs1796511689, rs2548609966, rs149170427, rs2546640992, rs2548219251, rs2548585932, rs367543061, rs367543062, rs1242532564, rs1554117456, rs773662834, rs775263897, rs1561601398	RCV003155667 RCV002282923 RCV002308686 RCV002470126 RCV003491928 RCV002510321 RCV002298520 RCV003230448 RCV003330576 RCV003123522 RCV003226844 RCV005407000 RCV003331844 RCV003405060 RCV003493351 RCV002271377 RCV004526599 RCV004767378 RCV002469220 RCV004702359 RCV003987663 RCV003492155	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphoma	Pathogenic	rs367543062	RCV005888665	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Median cleft lip and palate	Likely pathogenic	rs1774291665, rs1787294032	RCV001257354 RCV001257353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Likely pathogenic; Pathogenic	rs777686211, rs756856188	RCV001328279 RCV001328280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofaciodigital syndrome type 6	Likely pathogenic; Pathogenic	rs150242262, rs926409425, rs777045246, rs2150128669, rs1188561908, rs1200574734, rs1579740974, rs1796033726, rs141153181, rs1784470848, rs2150870227, rs747815682, rs1244119341, rs1779035528, rs990257446, rs606231258, rs606231259, rs606231260, rs375009168, rs606231261, rs2150954061, rs730882217, rs2548575756, rs777686211, rs546670307, rs374144275, rs863225154, rs141507441, rs1554064102, rs147416429, rs749523755, rs863225159, rs863225161, rs863225164, rs760906097, rs776886962, rs863225163, rs530569572, rs779680371, rs756856188, rs869312898, rs149170427, rs886041688, rs886043786, rs201292596, rs2547903295, rs2547067845, rs2547728684, rs755097302, rs367543061, rs367543062, rs367543063, rs139675596, rs200444162, rs749421099, rs962476553, rs759881074, rs1327245073, rs1554117456, rs1345413118, rs1381740657, rs1561584225, rs1187142382, rs773662834, rs1414913269, rs1561601398, rs1202341886, rs762334514, rs1305821156, rs1280425167, rs766699868, rs769153428, rs1051234664, rs1333914993	RCV002504519 RCV005036682 RCV001536071 RCV001535857 RCV005395081 RCV001808116 RCV001808121 RCV005032084 RCV002503596 RCV005042572 RCV005031989 RCV002490050 RCV005032104 RCV002484800 RCV005238113 RCV000144857 RCV000144858 RCV000144859 RCV000144860 RCV000144861 RCV002251197 RCV003989337 RCV005034613 RCV002492734 RCV005045373 RCV000697060 RCV002500627 RCV002503790 RCV000646711 RCV001332490 RCV000646703 RCV003987448 RCV000677320 RCV002485327 RCV002492926 RCV005031758 RCV002485328 RCV005031757 RCV000627788 RCV002478717 RCV002503791 RCV005031760 RCV000210418 RCV004556055 RCV002503976 RCV002480033 RCV005036782 RCV003448813 RCV005036913 RCV005038548 RCV000694430 RCV005031455 RCV000763545 RCV002496440 RCV000763544 RCV002475966 RCV005034036 RCV002476026 RCV005034078 RCV002491089 RCV005034196 RCV000646712 RCV005046956 RCV000689626 RCV004796280 RCV002249424 RCV005046960 RCV002485844 RCV005036105 RCV005047124 RCV005047159 RCV005036257 RCV001332486 RCV005036395 RCV005047301 RCV005036476	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polydactyly	Likely pathogenic	rs1774291665, rs1787294032	RCV001257354 RCV001257353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs886041757	RCV005895481	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Typical Joubert syndrome MRI findings	Pathogenic	rs730882217	RCV000162127	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHY, MONOMELIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune interstitial lung disease-arthritis syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft lip	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert-orofaciodigital syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME 6	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophy, monomelic	Monomelic Amyotrophy	BEFREE	22264561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophy, monomelic	Monomelic Amyotrophy	ORPHANET_DG	22264561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	BEFREE	23606168		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24178751, 29321670, 29605658, 31004438		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	25407461	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	33794348	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Distal upper limb amyotrophy	Distal upper limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	21679365, 22236771, 22425360, 24178751, 25407461, 25846457		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	22425360, 22693042, 24178751, 25407461, 25846457, 28431631, 29605658, 29961766, 31004438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	22425360, 24178751, 25920555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	22425360, 22693042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31107722		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	29321670		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	29955609	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34452636	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	22425360, 22693042		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 17	Joubert Syndrome	UNIPROT_DG	22425360, 23012439, 26477546		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 17	Joubert Syndrome	CLINVAR_DG	22425360, 24091540, 24178751, 25407461, 25920555, 26092869, 27434533, 28125082, 28289185, 28431631, 29321670		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 17	Joubert Syndrome	GENOMICS_ENGLAND_DG	22425360, 24178751, 25920555		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	23169490	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31004438		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monomelic amyotrophy	Monomelic Amyotrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	21679365, 22236771, 22425360, 24178751, 25407461, 25846457		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome 6	Orofaciodigital syndrome	Pubtator	25407461, 25846457	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital syndrome type 6	Orofaciodigital Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	CLINVAR_DG	22425360, 24091540, 24178751, 25407461, 25846457, 25920555, 26092869, 27434533, 28125082, 28289185, 28431631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	UNIPROT_DG	24178751, 25846457, 27081551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	ORPHANET_DG	24178751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	GENOMICS_ENGLAND_DG	24178751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	BEFREE	25407461, 25846457, 28631893, 29605658, 31004438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	29961766		★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	29961766	Associate	★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	24178751, 29605658		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	25920555	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	BEFREE	25920555		★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	26479702	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	26479702	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	9022046		★☆☆☆☆ Found in Text Mining only