MKS1 (MKS transition zone complex subunit 1)

Gene

• Entrez ID: 54903
• Gene name: MKS transition zone complex subunit 1
• Gene symbol: MKS1
• Synonyms (NCBI Gene): BBS13, JBTS28, MES, MKS, POC12
• Chromosome: 17
• Chromosome location: 17q22
• Summary: The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcrip

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs62636631	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs111315726	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs137853105	A>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs142805406	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs144635826	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant, missense variant
rs199684837	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, non coding transcript variant, coding sequence variant
rs199874059	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs199910690	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	3 prime UTR variant, missense variant, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs200149256	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs200156751	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs200865108	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs201137386	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201619500	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs201845569	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs201933838	C>T	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs201961765	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs368535131	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs372554696	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs375046501	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376823839	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs386834041	G>A,C	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs386834042	A>-	Likely-pathogenic	Intron variant, downstream transcript variant, splice donor variant, genic downstream transcript variant
rs386834043	ATGCCATTGGGACAGCCTCAGGTTTCTGC>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs386834044	->CCTG	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs386834045	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs386834047	AG>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs386834048	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs386834049	G>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs386834050	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs386834053	C>T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs587777804	AAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs730882120	T>C	Pathogenic, uncertain-significance	Coding sequence variant, downstream transcript variant, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs754279998	GAG>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs754404940	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs756102768	C>G,T	Likely-pathogenic	Splice donor variant
rs756368560	C>A,T	Likely-pathogenic	Splice donor variant
rs756853299	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs762668200	->C	Pathogenic	Coding sequence variant, splice acceptor variant, genic downstream transcript variant, intron variant
rs766392300	G>A,C,T	Pathogenic	Coding sequence variant, intron variant, synonymous variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs773036963	T>A	Pathogenic	Splice acceptor variant
rs773269657	C>A	Likely-pathogenic	Non coding transcript variant, intron variant, downstream transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs773684291	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs775043799	->G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs775169308	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs779953982	G>A	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs786204222	A>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs786205508	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727070	T>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs797045706	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225204	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs863225206	G>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs863225207	T>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs863225208	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs863225209	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225210	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs865870355	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant
rs886038203	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886038204	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886039803	A>T	Pathogenic	Splice donor variant
rs1114167302	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1376664664	A>C,G	Likely-pathogenic	Intron variant, splice donor variant
rs1488635637	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1555596845	GTGACAGTGCCTGTGGTCTCTGTGCGGAG>-	Likely-pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555596943	T>C	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1555599412	C>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555600644	ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA>-	Pathogenic	Intron variant
rs1567796331	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1150488	hsa-miR-3613-3p	CLIP-seq
MIRT1150489	hsa-miR-4434	CLIP-seq
MIRT1150490	hsa-miR-4516	CLIP-seq
MIRT1150491	hsa-miR-4531	CLIP-seq
MIRT1150492	hsa-miR-4773	CLIP-seq
MIRT1150493	hsa-miR-495	CLIP-seq
MIRT1150494	hsa-miR-922	CLIP-seq
MIRT2042857	hsa-miR-1229	CLIP-seq
MIRT2042858	hsa-miR-2467-3p	CLIP-seq
MIRT2042859	hsa-miR-2682	CLIP-seq
MIRT2042860	hsa-miR-298	CLIP-seq
MIRT2042861	hsa-miR-3158-5p	CLIP-seq
MIRT2042862	hsa-miR-3667-3p	CLIP-seq
MIRT2042863	hsa-miR-3667-5p	CLIP-seq
MIRT2042864	hsa-miR-449c	CLIP-seq
MIRT2042865	hsa-miR-4725-5p	CLIP-seq
MIRT2042866	hsa-miR-504	CLIP-seq
MIRT2042867	hsa-miR-940	CLIP-seq
MIRT2272494	hsa-miR-3065-3p	CLIP-seq
MIRT2272495	hsa-miR-512-5p	CLIP-seq
MIRT2272496	hsa-miR-621	CLIP-seq
MIRT2454156	hsa-miR-4323	CLIP-seq
MIRT2454157	hsa-miR-4714-3p	CLIP-seq
MIRT2454158	hsa-miR-545	CLIP-seq
MIRT2042857	hsa-miR-1229	CLIP-seq
MIRT2571395	hsa-miR-1237	CLIP-seq
MIRT2571396	hsa-miR-1248	CLIP-seq
MIRT2571397	hsa-miR-133a	CLIP-seq
MIRT2571398	hsa-miR-133b	CLIP-seq
MIRT2571399	hsa-miR-208a	CLIP-seq
MIRT2571400	hsa-miR-208b	CLIP-seq
MIRT2571401	hsa-miR-3174	CLIP-seq
MIRT2571402	hsa-miR-3609	CLIP-seq
MIRT2571403	hsa-miR-3658	CLIP-seq
MIRT2042862	hsa-miR-3667-3p	CLIP-seq
MIRT2042863	hsa-miR-3667-5p	CLIP-seq
MIRT2571404	hsa-miR-3672	CLIP-seq
MIRT2571405	hsa-miR-432	CLIP-seq
MIRT2571406	hsa-miR-4438	CLIP-seq
MIRT2571407	hsa-miR-4450	CLIP-seq
MIRT2571408	hsa-miR-4505	CLIP-seq
MIRT2571409	hsa-miR-4667-5p	CLIP-seq
MIRT2571410	hsa-miR-4700-5p	CLIP-seq
MIRT2571411	hsa-miR-4731-5p	CLIP-seq
MIRT2571412	hsa-miR-488	CLIP-seq
MIRT2571413	hsa-miR-499-5p	CLIP-seq
MIRT2571414	hsa-miR-513a-5p	CLIP-seq
MIRT2571415	hsa-miR-548ah	CLIP-seq
MIRT2571416	hsa-miR-548t	CLIP-seq
MIRT2571417	hsa-miR-7	CLIP-seq
MIRT2571418	hsa-miR-9	CLIP-seq
MIRT2042857	hsa-miR-1229	CLIP-seq
MIRT2571399	hsa-miR-208a	CLIP-seq
MIRT2571400	hsa-miR-208b	CLIP-seq
MIRT2571403	hsa-miR-3658	CLIP-seq
MIRT2042863	hsa-miR-3667-5p	CLIP-seq
MIRT2571404	hsa-miR-3672	CLIP-seq
MIRT2571406	hsa-miR-4438	CLIP-seq
MIRT2571407	hsa-miR-4450	CLIP-seq
MIRT2571408	hsa-miR-4505	CLIP-seq
MIRT2571409	hsa-miR-4667-5p	CLIP-seq
MIRT2571410	hsa-miR-4700-5p	CLIP-seq
MIRT2571411	hsa-miR-4731-5p	CLIP-seq
MIRT2571413	hsa-miR-499-5p	CLIP-seq
MIRT2571414	hsa-miR-513a-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0003271	Process	Smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	IEA
GO:0005515	Function	Protein binding	IPI	17185389, 19515853, 26595381, 26638075, 32726168, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	17185389
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	19208769, 19515853
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0010669	Process	Epithelial structure maintenance	IEA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036038	Component	MKS complex	IBA
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0036064	Component	Ciliary basal body	IDA	19208769, 19515853
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	19515853
GO:0060271	Process	Cilium assembly	ISS
GO:0060322	Process	Head development	IEA
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0061009	Process	Common bile duct development	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990403	Process	Embryonic brain development	IEA
GO:2000095	Process	Regulation of Wnt signaling pathway, planar cell polarity pathway	IEA

Other IDs

• MIM: 609883
• HGNC: 7121
• e!Ensembl: ENSG00000011143

Protein

• UniProt ID: Q9NXB0
• Protein name: Tectonic-like complex member MKS1 (Meckel syndrome type 1 protein)
• Protein function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migratio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07162	B9-C2	313 → 493	Ciliary basal body-associated, B9 protein	Domain

• Sequence:

  MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQ
  PTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGK
  KNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSR
  IVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKP
  DFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVG
  TDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTT
  KSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVL
  PATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRT
  ETTGTVTFRLHCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQ
  EARESLPQDLVSPSGTLVS

• Sequence length: 559

Pathways

Reactome:

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

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
Bardet-Biedl syndrome 13	Likely pathogenic; Pathogenic	rs933577333, rs747740477, rs760971749, rs1968640181, rs762377424, rs2143805609, rs1320893771, rs201362733, rs2143737350, rs2143800757, rs386834052, rs199874059, rs587777804, rs1567803107, rs2509404204, rs2509428356, rs2509457459, rs2509445539, rs2509448738, rs2509416760, rs745789469, rs1968973786, rs2509403624, rs2509442096, rs2509441981, rs911132717, rs2509428405, rs2509426093, rs774475723, rs386834043, rs786204222, rs1194131222, rs1968931002, rs756368560, rs794727070, rs2509407984, rs1968675432, rs797045706, rs2509466317, rs2509465988, rs1411471923, rs773684291, rs754279998, rs745518012, rs756853299, rs886038203, rs751818062, rs2509403348, rs2509411772, rs2509413057, rs2509465601, rs1269271727, rs1355211474, rs2509416820, rs980185244, rs2509416449, rs1214897554, rs865870355, rs775043799, rs762668200, rs1488635637, rs1555599412, rs1555601787, rs1376664664, rs375170572, rs1555596845, rs1555596943, rs386834044, rs386834046, rs386834047, rs386834050, rs201933838, rs386834051, rs1215189491, rs903778224, rs762482919, rs781423785, rs1273591389	RCV002504627 RCV003473903 RCV003473975 RCV004571706 RCV002307783 RCV003475263 RCV003475129 RCV003475233 RCV003475289 RCV002307778 RCV000665702 RCV000668139 RCV000001459 RCV002306528 RCV002309624 RCV002309653 RCV002309772 RCV002308035 RCV002308071 RCV002308075 RCV002308194 RCV002308198 RCV002309374 RCV002306981 RCV002306983 RCV002307008 RCV002307287 RCV002310244 RCV002310507 RCV003474892 RCV000665745 RCV004572762 RCV005021541 RCV003474920 RCV000671535 RCV003475400 RCV003475433 RCV000672938 RCV003475445 RCV003475452 RCV003475458 RCV000984285 RCV000665372 RCV003475472 RCV000668874 RCV005025397 RCV003476481 RCV003476482 RCV003476484 RCV003476485 RCV003476486 RCV003476487 RCV003476488 RCV003476489 RCV004573316 RCV004574866 RCV004574867 RCV004574868 RCV004574869 RCV000410881 RCV000411143 RCV003476196 RCV000672973 RCV000670245 RCV000674956 RCV000669368 RCV000665861 RCV000673842 RCV000672643 RCV000984282 RCV000674337 RCV003474634 RCV003474635 RCV000671081 RCV000672700 RCV005021402 RCV003473621 RCV003473720 RCV002497749 RCV005014292	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic kidney disease	Likely pathogenic; Pathogenic	rs754279998	RCV000414929	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs756709080	RCV005912615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs754279998	RCV000414929	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs375170572	RCV005901443	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Pathogenic	rs1488635637	RCV000626940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs2143742869, rs933577333, rs776174898, rs747740477, rs756709080, rs760971749, rs2143778074, rs1968969593, rs756368560, rs1183365510, rs2143753386, rs12942386, rs2143756871, rs1968640181, rs762377424, rs1968963177, rs2143805609, rs200970148, rs1320893771, rs1376664664, rs2143744476, rs1401015954, rs2143838681, rs183617764, rs2143751393, rs201362733, rs2143737350, rs2143800757, rs746647549, rs2143777988, rs199874059, rs2143737457, rs2509403624, rs386834043, rs786204222, rs1194131222, rs1968931002, rs1969067636, rs1969403532, rs2509407984, rs1567801728, rs863225207, rs1968675432, rs2509455112, rs2509426428, rs797045706, rs2509466317, rs2509465988, rs1411471923, rs2509457712, rs863225204, rs863225210, rs773684291, rs754279998, rs863225208, rs863225209, rs863225206, rs1555600644, rs863225205, rs1968523602, rs2509413100, rs745518012, rs2509466085, rs2509469673, rs1567795267, rs756853299, rs1114167302, rs2509416195, rs2509457683, rs1567803107, rs2509416584, rs1364950881, rs2509447942, rs794727070, rs1597993685, rs2509455117, rs1036618109, rs2509403404, rs2509444700, rs1382382001, rs2509402628, rs567026924, rs865870355, rs762668200, rs1488635637, rs1555599412, rs375170572, rs773036963, rs766392300, rs386834044, rs386834046, rs386834047, rs386834050, rs201933838, rs386834051, rs1969063562, rs1215189491, rs903778224, rs1567795088, rs762482919, rs781423785, rs1969405671, rs1969409341, rs1161451203, rs1273591389	RCV001379415 RCV001377156 RCV001378613 RCV001377617 RCV001379397 RCV001387056 RCV001385013 RCV001387502 RCV001389068 RCV001383061 RCV001882748 RCV002015057 RCV002049678 RCV001999780 RCV001884327 RCV001960303 RCV001964030 RCV001923539 RCV001937270 RCV001940981 RCV001958858 RCV001971650 RCV001900737 RCV001949540 RCV001948353 RCV001972515 RCV002022975 RCV001883884 RCV001914037 RCV001951554 RCV001038005 RCV003094072 RCV003099156 RCV000168467 RCV000168353 RCV003086166 RCV003070106 RCV001063303 RCV002634218 RCV002633646 RCV002617261 RCV002650612 RCV002659380 RCV002730166 RCV002843069 RCV002842575 RCV002825632 RCV002894018 RCV003765230 RCV002871344 RCV002867793 RCV002903486 RCV002962499 RCV002994399 RCV000201731 RCV000201584 RCV000201767 RCV000201754 RCV000201670 RCV000201588 RCV000201675 RCV000201583 RCV000201639 RCV000201752 RCV003012190 RCV003038862 RCV003017585 RCV003029216 RCV003024439 RCV003055760 RCV001049084 RCV000491898 RCV003782466 RCV003781823 RCV003788636 RCV003789713 RCV003790426 RCV003790471 RCV003786196 RCV003808009 RCV003808425 RCV003806808 RCV003805955 RCV003805989 RCV003802881 RCV003813505 RCV003809699 RCV003812578 RCV003804999 RCV003805082 RCV003810420 RCV001213563 RCV000823733 RCV001378641 RCV000701980 RCV000800425 RCV000693067 RCV000706163 RCV000230084 RCV001384725 RCV005222733 RCV001382376 RCV001220121 RCV002513702 RCV001061973 RCV001061747 RCV001040339 RCV001049916 RCV001389263 RCV001219659 RCV001203927 RCV001231141 RCV001228561 RCV001239076	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 28	Likely pathogenic; Pathogenic	rs933577333, rs760971749, rs762377424, rs201362733, rs2143800757, rs386834052, rs199874059, rs2143737457, rs1567803107, rs2509404204, rs2509428356, rs2509457459, rs2509445539, rs2509448738, rs2509416760, rs745789469, rs1968973786, rs2509403624, rs2509442096, rs2509441981, rs911132717, rs2509428405, rs2509426093, rs774475723, rs386834043, rs786204222, rs1194131222, rs1968931002, rs794727070, rs797045706, rs1411471923, rs773684291, rs754279998, rs756853299, rs886038203, rs886038204, rs865870355, rs775043799, rs762668200, rs1488635637, rs1555599412, rs1555601787, rs1376664664, rs375170572, rs1555596845, rs1555596943, rs386834044, rs386834046, rs386834047, rs201933838, rs386834051, rs1215189491, rs762482919, rs781423785, rs1273591389	RCV001548771 RCV005014537 RCV002307783 RCV005016952 RCV002307778 RCV000665702 RCV000668139 RCV002250888 RCV002306528 RCV002309624 RCV002309653 RCV002309772 RCV002308035 RCV002308071 RCV002308075 RCV002308194 RCV002308198 RCV002309374 RCV002306981 RCV002306983 RCV002307008 RCV002307287 RCV002310244 RCV002310507 RCV000984005 RCV000665745 RCV005028211 RCV005021541 RCV000671535 RCV000672938 RCV005019515 RCV000984286 RCV000241545 RCV000668874 RCV000241543 RCV000241541 RCV000412320 RCV000412146 RCV005027580 RCV000672973 RCV000670245 RCV000674956 RCV000669368 RCV000665861 RCV000673842 RCV000672643 RCV000984283 RCV000674337 RCV005025106 RCV000671081 RCV000672700 RCV005021402 RCV005021483 RCV002497749 RCV005014292	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Limb undergrowth	Likely pathogenic; Pathogenic	rs754279998	RCV000414929	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel syndrome, type 1	Likely pathogenic; Pathogenic	rs933577333, rs760971749, rs1968969593, rs2143753386, rs762377424, rs201362733, rs2143800757, rs730880323, rs386834052, rs199874059, rs1567803107, rs2509404204, rs2509428356, rs2509457459, rs2509445539, rs2509448738, rs2509416760, rs745789469, rs1968973786, rs2509403624, rs2509442096, rs2509441981, rs911132717, rs2509428405, rs2509426093, rs774475723, rs386834043, rs786204222, rs1194131222, rs1968931002, rs756368560, rs794727070, rs1439561211, rs797045706, rs1411471923, rs773684291, rs754279998, rs756853299, rs886038203, rs886039803, rs2509447942, rs756709080, rs865870355, rs775043799, rs762668200, rs1488635637, rs1555599412, rs1555601787, rs1376664664, rs375170572, rs1555596845, rs1555596943, rs386834041, rs386834042, rs386834044, rs386834045, rs386834046, rs386834047, rs386834049, rs386834050, rs201933838, rs386834051, rs1215189491, rs762482919, rs781423785, rs1273591389	RCV002504627 RCV005014537 RCV001831396 RCV001824178 RCV002307783 RCV005016952 RCV002307778 RCV000022412 RCV000022413 RCV000022414 RCV002306528 RCV002309624 RCV002309653 RCV002309772 RCV002308035 RCV002308071 RCV002308075 RCV002308194 RCV002308198 RCV002309374 RCV002306981 RCV002306983 RCV002307008 RCV002307287 RCV002310244 RCV002310507 RCV000210823 RCV000665745 RCV005028211 RCV005021541 RCV001826869 RCV000671535 RCV002510442 RCV000194216 RCV005019515 RCV000984284 RCV000665372 RCV000668874 RCV005025397 RCV004760470 RCV005610616 RCV005610622 RCV000410219 RCV000409586 RCV000501226 RCV000672973 RCV000670245 RCV000674956 RCV000669368 RCV000665861 RCV000673842 RCV000672643 RCV000050026 RCV000050027 RCV000050028 RCV000050030 RCV000050031 RCV000050032 RCV000050033 RCV000050035 RCV000050036 RCV000050037 RCV000050038 RCV005021402 RCV001175216 RCV002497749 RCV005014292	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs2143742869, rs933577333, rs776174898, rs747740477, rs756709080, rs760971749, rs2143778074, rs1968969593, rs756368560, rs1183365510, rs2143753386, rs12942386, rs2143756871, rs1968640181, rs762377424, rs1968963177, rs2143805609, rs200970148, rs1320893771, rs1376664664, rs2143744476, rs1401015954, rs2143838681, rs183617764, rs2143751393, rs201362733, rs2143737350, rs2143800757, rs746647549, rs2143777988, rs199874059, rs2143737457, rs2509403624, rs386834043, rs786204222, rs1194131222, rs1968931002, rs786205508, rs1969067636, rs1969403532, rs2509407984, rs1567801728, rs863225207, rs1968675432, rs2509455112, rs2509426428, rs797045706, rs2509466317, rs2509465988, rs1411471923, rs2509457712, rs773684291, rs754279998, rs863225205, rs1968523602, rs2509413100, rs745518012, rs2509466085, rs2509469673, rs1567795267, rs756853299, rs886039803, rs2509416195, rs1114167302, rs2509457683, rs1567803107, rs2509416584, rs1364950881, rs2509447942, rs794727070, rs1597993685, rs2509455117, rs1036618109, rs2509403404, rs2509444700, rs1382382001, rs2509402628, rs567026924, rs865870355, rs762668200, rs1488635637, rs1555599412, rs375170572, rs773036963, rs766392300, rs386834044, rs386834046, rs386834047, rs386834050, rs201933838, rs386834051, rs1969063562, rs1215189491, rs903778224, rs1567795088, rs762482919, rs781423785, rs1969405671, rs1969409341, rs1161451203, rs1273591389	RCV001379415 RCV001377156 RCV001378613 RCV001377617 RCV001379397 RCV001387056 RCV001385013 RCV001387502 RCV001389068 RCV001383061 RCV001882748 RCV002015057 RCV002049678 RCV001999780 RCV001884327 RCV001960303 RCV001964030 RCV001923539 RCV001937270 RCV001940981 RCV001958858 RCV001971650 RCV001900737 RCV001949540 RCV001948353 RCV001972515 RCV002022975 RCV001883884 RCV001914037 RCV001951554 RCV001038005 RCV003094072 RCV003099156 RCV000168467 RCV000168353 RCV003086166 RCV003070106 RCV000256424 RCV001063303 RCV002634218 RCV002633646 RCV002617261 RCV002650612 RCV002659380 RCV002730166 RCV002843069 RCV002842575 RCV002825632 RCV002894018 RCV003765230 RCV002871344 RCV002867793 RCV002903486 RCV002962499 RCV002994399 RCV002515476 RCV001853235 RCV000691391 RCV001857741 RCV003012190 RCV003038862 RCV003017585 RCV003029216 RCV003024439 RCV003055760 RCV001049084 RCV000256483 RCV003782466 RCV003781823 RCV003788636 RCV003789713 RCV003790426 RCV003790471 RCV003786196 RCV003808009 RCV003808425 RCV003806808 RCV003805955 RCV003805989 RCV003802881 RCV003813505 RCV003809699 RCV003812578 RCV003804999 RCV003805082 RCV003810420 RCV001213563 RCV000823733 RCV001378641 RCV000701980 RCV000800425 RCV000693067 RCV000706163 RCV001063563 RCV001384725 RCV005222733 RCV001382376 RCV001220121 RCV002513702 RCV001061973 RCV001061747 RCV001040339 RCV001049916 RCV001389263 RCV001219659 RCV001203927 RCV001231141 RCV001228561 RCV001239076	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Pathogenic	rs1969067636	RCV005930653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MKS1-related disorder	Likely pathogenic; Pathogenic	rs199874059, rs386834043, rs786204222, rs794727070, rs773684291, rs756853299, rs375170572, rs386834044, rs386834046, rs386834050, rs762482919	RCV004732522 RCV004528921 RCV006261953 RCV004537366 RCV004732785 RCV004732799 RCV004732989 RCV000340753 RCV004537235 RCV004732640 RCV004733171	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nystagmus	Pathogenic	rs1488635637	RCV000626940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly	Likely pathogenic; Pathogenic	rs754279998, rs1488635637	RCV000414929 RCV000626940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rotary nystagmus	Likely pathogenic; Pathogenic	rs754279998	RCV000414929	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset severe obesity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome and related disorders	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH OCULAR DEFECT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis 6	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multicystic kidney dysplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polycystic kidney disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	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	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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
Adenocarcinoma	Adenocarcinoma	BEFREE	28112178		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	27377014		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous genitalia, female	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	37131188	Associate	★☆☆☆☆ Found in Text Mining only
Arima syndrome	Arima Syndrome	BEFREE	17558409		★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	15266619, 18327255, 19797195, 22004009		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	16415886		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	18327255		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CTD_human_DG	18327255		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	ORPHANET_DG	18327255		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	16415886		★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 13	Bardet-Biedl Syndrome	CLINVAR_DG	16415886, 17377820, 17397051, 17437276, 21228398, 24886560, 26092869, 26490104, 27570071		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 13	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	17377820, 23454480, 4886560		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 13	Bardet-Biedl Syndrome	UNIPROT_DG	18327255		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 13	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16012519, 19212831, 20944142, 21286670, 21457722, 24133587, 25597476, 26385482, 27221310, 28351346, 28514100, 29115573, 29884360, 30556875, 30569167, 31424644		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28127789		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	17558409, 19515853, 24886560, 27570071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	21068128, 24886560	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	12384791		★☆☆☆☆ 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 hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic liver disease	Cystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	BEFREE	23454480		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30928209		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	23454480		★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	12384791		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	16415886, 17185389, 17377820, 17397051, 17437276, 17935508, 24886560, 26092869, 26490104, 27377014, 27570071, 28497568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	16415886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	17160906, 17558409, 24886560, 26490104, 27377014, 27570071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	24886560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	BEFREE	26385482, 29118324		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	26385482, 29118324		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22190458, 31463571		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22190458, 29700308		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23451236		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrometrocolpos	Hydrometrocolpos	BEFREE	15266619		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28480154		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	24886560		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 14	Joubert Syndrome	BEFREE	26595381		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 28	Joubert Syndrome	CLINVAR_DG	16415886, 17377820, 17397051, 17437276, 21228398, 23351400, 24886560, 26092869, 26490104, 27570071		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 28	Joubert Syndrome	GENOMICS_ENGLAND_DG	16415886, 4886560		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with ocular defect	Joubert Syndrome With Ocular Defect	ORPHANET_DG	24886560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome with ocular defect	Joubert Syndrome With Ocular Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kaufman-McKusick syndrome	Kaufman-McKusick Syndrome	BEFREE	15266619		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17558409		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 6 (disorder)	Leber Congenital Amaurosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	27832204		★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	29381062		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16012519, 19212831, 20944142, 21286670, 21457722, 24133587, 25597476, 26385482, 27221310, 28514100, 29115573, 29884360, 30556875, 30569167, 31424644		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25597476, 25912964, 27633630, 30275702		★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	BEFREE	15112103, 16415886, 17185389, 17397051, 17437276, 17935508, 19515853, 19776033, 21110233, 21462283, 21493627, 21763481, 23349226, 23454480, 24886560, 26490104, 26729329, 26982032, 27377014, 28291807, 30851085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	UNIPROT_DG	16415886, 19466712, 26490104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	CLINVAR_DG	16415886, 17377820, 17397051, 17437276, 21228398, 24886560, 26092869, 26490104, 27570071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	16415886, 17377820, 23454480, 24643152, 4886560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	17160906, 21493627, 24886560	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 3	Meckel syndrome	BEFREE	19515853		★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG	16415886, 17185389, 17377820, 17397051, 17437276, 17935508, 23736532, 24886560, 26092869, 26490104, 27570071, 28497568		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	BEFREE	17185389, 17437276, 17935508		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	17389183, 19466712, 21110233		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mental Depression	Mental Depression	BEFREE	30928209		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15701871, 24395656, 25912964, 27221310, 30808864, 31463571		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	21565611, 26982032		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	1718163, 25912964, 28035404, 28567715, 30114693, 30275702, 30896844, 31138322, 31401873, 31564210, 31685299		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	GENOMICS_ENGLAND_DG	16415886		★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	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
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	12384791, 23454480		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	16415886		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly	Polydactyly	LHGDN	17377820		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly	Polydactyly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly	Polydactyly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	29381062		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	GENOMICS_ENGLAND_DG	16415886		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30587838		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rotary Nystagmus	Rotary nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ 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
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29659195		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28112178, 7554063		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28927142, 29286099, 29512696		★☆☆☆☆ 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 fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	29312817		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	15266619		★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30068300		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only