TCTN2 (tectonic family member 2)

Gene

• Entrez ID: 79867
• Gene name: Tectonic family member 2
• Gene symbol: TCTN2
• Synonyms (NCBI Gene): C12orf38, JBTS24, MKS8, TECT2
• Disease Acronyms (UniProt): JBTS24, MKS8
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome ty

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141768405	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant
rs146698907	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs149430216	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs187433682	G>A	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs188417716	T>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs201010803	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs201827132	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs374349989	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs746186338	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs748951253	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs760034947	->T	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs760830696	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs786204788	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs786205622	TG>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs797046040	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs863225220	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225221	G>T	Pathogenic	Stop gained, coding sequence variant
rs863225222	G>-,GG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs863225425	G>A	Pathogenic	Splice acceptor variant
rs863225426	C>T	Pathogenic	Stop gained, coding sequence variant
rs915737037	->CTCTGCTC	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1131691491	A>T	Likely-pathogenic	Splice acceptor variant
rs1555293215	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029239	hsa-miR-26b-5p	Microarray	19088304
MIRT695166	hsa-miR-2278	HITS-CLIP	23313552
MIRT695165	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT695164	hsa-miR-4459	HITS-CLIP	23313552
MIRT695163	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT695162	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT695161	hsa-miR-3926	HITS-CLIP	23313552
MIRT695160	hsa-miR-548s	HITS-CLIP	23313552
MIRT695166	hsa-miR-2278	HITS-CLIP	23313552
MIRT695165	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT695164	hsa-miR-4459	HITS-CLIP	23313552
MIRT695163	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT695162	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT695161	hsa-miR-3926	HITS-CLIP	23313552
MIRT695160	hsa-miR-548s	HITS-CLIP	23313552
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT1416812	hsa-miR-1262	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416817	hsa-miR-4433	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416820	hsa-miR-4701-3p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT1416823	hsa-miR-542-3p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416805	hsa-miR-24	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2347465	hsa-miR-323b-3p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416806	hsa-miR-4284	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416807	hsa-miR-4466	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2347466	hsa-miR-4710	CLIP-seq
MIRT1416810	hsa-miR-4746-3p	CLIP-seq
MIRT2347467	hsa-miR-4792	CLIP-seq
MIRT1416811	hsa-miR-675	CLIP-seq
MIRT2395624	hsa-miR-1285	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2395625	hsa-miR-3157-5p	CLIP-seq
MIRT2395626	hsa-miR-3187-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2395627	hsa-miR-612	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT1416812	hsa-miR-1262	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT2640387	hsa-miR-1323	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2640388	hsa-miR-323-5p	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT2640389	hsa-miR-3613-3p	CLIP-seq
MIRT2640390	hsa-miR-371-5p	CLIP-seq
MIRT2640391	hsa-miR-371b-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT1416820	hsa-miR-4701-3p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2640392	hsa-miR-548o	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT2640393	hsa-miR-876-3p	CLIP-seq
MIRT2461274	hsa-miR-10a	CLIP-seq
MIRT2461275	hsa-miR-10b	CLIP-seq
MIRT2461276	hsa-miR-1268	CLIP-seq
MIRT2461277	hsa-miR-1268b	CLIP-seq
MIRT2640387	hsa-miR-1323	CLIP-seq
MIRT1416803	hsa-miR-216a	CLIP-seq
MIRT1416804	hsa-miR-216b	CLIP-seq
MIRT1416813	hsa-miR-3065-3p	CLIP-seq
MIRT1416814	hsa-miR-3122	CLIP-seq
MIRT2640388	hsa-miR-323-5p	CLIP-seq
MIRT2461278	hsa-miR-339-5p	CLIP-seq
MIRT2640389	hsa-miR-3613-3p	CLIP-seq
MIRT2640390	hsa-miR-371-5p	CLIP-seq
MIRT2640391	hsa-miR-371b-5p	CLIP-seq
MIRT1416815	hsa-miR-3913-5p	CLIP-seq
MIRT2461279	hsa-miR-4421	CLIP-seq
MIRT1416816	hsa-miR-4426	CLIP-seq
MIRT1416818	hsa-miR-4647	CLIP-seq
MIRT1416819	hsa-miR-4662b	CLIP-seq
MIRT1416808	hsa-miR-4677-3p	CLIP-seq
MIRT1416809	hsa-miR-4679	CLIP-seq
MIRT2461280	hsa-miR-4684-5p	CLIP-seq
MIRT1416821	hsa-miR-4793-3p	CLIP-seq
MIRT1416822	hsa-miR-508-5p	CLIP-seq
MIRT2461281	hsa-miR-541	CLIP-seq
MIRT2461282	hsa-miR-548c-3p	CLIP-seq
MIRT2640392	hsa-miR-548o	CLIP-seq
MIRT2461283	hsa-miR-593	CLIP-seq
MIRT2461284	hsa-miR-654-5p	CLIP-seq
MIRT1416824	hsa-miR-661	CLIP-seq
MIRT1416825	hsa-miR-766	CLIP-seq
MIRT2640393	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA	21873635
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0036038	Component	MKS complex	IBA	21873635
GO:0036038	Component	MKS complex	ISS
GO:0060170	Component	Ciliary membrane	TAS
GO:0060271	Process	Cilium assembly	IBA	21873635
GO:0060271	Process	Cilium assembly	ISS
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS
GO:1904491	Process	Protein localization to ciliary transition zone	IBA	21873635

Other IDs

• MIM: 613846
• HGNC: 25774
• e!Ensembl: ENSG00000168778

Protein

• UniProt ID: Q96GX1
• Protein name: Tectonic-2
• 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. Required for hedgehog signaling
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07773	DUF1619	171 → 444	Protein of unknown function (DUF1619)	Family

• Sequence:

  MGFQPPAALLLRLFLLQGILRLLWGDLAFIPPFIRMSGPAVSASLVGDTEGVTVSLAVLQ
  DEAGILPIPTCGVLNNETEDWSVTVIPGAKVLEVTVRWKRGLDWCSSNETDSFSESPCIL
  QTLLVSASHNSSCSAHLLIQVEIYANSSLTHNASENVTVIPNQVYQPLGPCPCNLTAGAC
  DVRCCCDQECSSNLTTLFRRSCFTGVFGGDVNPPFDQLCSAGTTTRGVPDWFPFLCVQSP
  LANTPFLGYFYHGAVSPKQDSSFEVYVDTDAKDFADFGYKQGDPIMTVKKAYFTIPQVSL
  AGQCMQNAPVAFLHNFDVKCVTNLELYQERDGIINAKIKNVALGGIVTPKVIYEEATDLD
  KFITNTETPLNNGSTPRIVNVEEHYIFKWNNNTISEINVKIFRAEINAHQKGIMTQRFVV
  KFLSYNSGNEEELSGNPGYQLGKPVRALNINRMNNVTTLHLWQSAGRGLCTSATFKPILF
  GENVLSGCLLEVGINENCTQLRENAVERLDSLIQATHVAMRGNSDYADLSDGWLEIIRVD
  APDPGADPLASSVNGMCLDIPAHLSIRILISDAGAVEGITQQEILGVETRFSSVNWQYQC
  GLTCEHKADLLPISASVQFIKIPAQLPHPLTRFQINYTEYDCNRNEVCWPQLLYPWTQYY
  QGELHSQCVAKGLLLLLFLTLALFLSNPWTRICKAYS

• Sequence length: 697

Pathways

Reactome:

Anchoring of the basal body to the plasma membrane

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anencephaly	Anencephaly	rs773607884
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003, rs199469707, rs11230683, rs386834044, rs386834149, rs267604575, rs587777079, rs587777653, rs587783013, rs778149316, rs786204135, rs386834043, rs786204189, rs786204788, rs794729195, rs534542684, rs797045223, rs863224523, rs201502401, rs374144275, rs863225135, rs863225139, rs372659908, rs863225136, rs772989270, rs863225147, rs541041911, rs863225137, rs371637724, rs777668842, rs863225143, rs753085250, rs753874898, rs863225138, rs863225199, rs775518991, rs752300607, rs863225202, rs863225200, rs863225198, rs754637179, rs755459875, rs863225151, rs863225222, rs863225221, rs863225220, rs201010803, rs863225214, rs369488112, rs863225207, rs863225204, rs863225210, rs754279998, rs863225208, rs863225209, rs863225206, rs1555600644, rs863225205, rs750436680, rs863225150, rs757863670, rs864309712, rs878855006, rs1114167302, rs768663992, rs760952407, rs1057517498, rs1057517528, rs767384710, rs756789619, rs1057520085, rs1057520162, rs142759730, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs779450345, rs1276908141, rs1554350503, rs1554208431, rs780910490, rs767018622, rs565629362, rs905262279, rs1554214237, rs771866500, rs754404879, rs1554972547, rs1560002959, rs1564430716, rs756276537, rs1431917892, rs1565088283, rs1277577195, rs1562753388, rs772289223, rs777215595, rs747322175, rs751823180, rs751477523, rs187245292, rs1574587553, rs762334514, rs747514855, rs1318058212, rs1583179845, rs1589150410, rs1588830568, rs1787150198, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs748438350, rs1336317768, rs780069818, rs771226563, rs1784887448, rs781198326	25118024, 21565611, 26092869
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Joubert syndrome	JOUBERT SYNDROME 24, Joubert syndrome 1, Joubert syndrome	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129, rs267607020, rs137852832, rs62635288, rs137852834, rs267606719, rs1554557920, rs137853107, rs756686115, rs758948621, rs137853108, rs267607119, rs786200867, rs267607115, rs267607116, rs201893408, rs267607118, rs202149403, rs121912606, rs121912607, rs121912608, rs121434348, rs121434349, rs121434350, rs267606641, rs387906270, rs267606916, rs312262895, rs312262894, rs201391050, rs387907003, rs367543065, rs1584916464, rs2117674119, rs781815473, rs1584901211, rs1487082103, rs374349989, rs143149764, rs199469707, rs793888505, rs387907131, rs748510210, rs917404097, rs387907132, rs387907133, rs387907134, rs367543061, rs367543062, rs367543064, rs367543063, rs139675596, rs398122866, rs793888508, rs1596763347, rs1596988259, rs312262830, rs386833749, rs386833751, rs386833752, rs386833757, rs386833760, rs11230683, rs386834044, rs386834148, rs386834152, rs386834153, rs386834157, rs386834158, rs386834180, rs386834182, rs386834202, rs386834205, rs397514726, rs397514753, rs397514754, rs398124546, rs62640570, rs62640581, rs62640572, rs281865189, rs587777138, rs587777139, rs587777140, rs587777141, rs587777142, rs587777143, rs375113643, rs1554562278, rs587777145, rs587777146, rs537456518, rs587777156, rs377177061, rs587783013, rs587783014, rs587783016, rs606231259, rs375009168, rs200407856, rs727503853, rs730882231, rs730882217, rs730882221, rs778149316, rs386834043, rs786205568, rs777686211, rs794729226, rs794729195, rs534542684, rs757350052, rs796052128, rs770566897, rs796052129, rs797045104, rs764719093, rs797045437, rs797045224, rs797045223, rs797046039, rs760830696, rs797045918, rs775883520, rs863225149, rs762998472, rs781252161, rs754221308, rs200904521, rs863225178, rs773881370, rs370880399, rs863225173, rs863225171, rs863225172, rs779823379, rs763735590, rs386833759, rs863225176, rs863225168, rs863225179, rs201502401, rs863225174, rs374144275, rs863225154, rs770758833, rs863225153, rs141507441, rs863225155, rs1554064102, rs775263897, rs863225152, rs147416429, rs749523755, rs863225159, rs863225156, rs768675259, rs863225157, rs141153181, rs863225161, rs863225162, rs773362418, rs863225166, rs863225165, rs863225164, rs776886962, rs863225163, rs863225158, rs530569572, rs779680371, rs756856188, rs863225135, rs863225131, rs863225146, rs863225139, rs372659908, rs863225140, rs755407014, rs863225134, rs863225136, rs776093293, rs863225145, rs772989270, rs863225147, rs541041911, rs764412921, rs863225132, rs863225148, rs863225137, rs863225141, rs371637724, rs777668842, rs863225143, rs753085250, rs863225133, rs753874898, rs863225142, rs863225138, rs863225192, rs863225194, rs374703898, rs863225193, rs771203308, rs761382780, rs863225191, rs863225190, rs773954226, rs751309268, rs863225226, rs863225229, rs863225227, rs863225232, rs863225237, rs863225235, rs863225231, rs116647652, rs863225228, rs863225225, rs751517725, rs863225240, rs863225230, rs863225239, rs863225236, rs863225200, rs745688122, rs755459875, rs863225222, rs201010803, rs863225187, rs771454167, rs779262951, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225184, rs863225183, rs727503855, rs863225186, rs863225185, rs758550675, rs863225188, rs201097695, rs869312856, rs863225203, rs540255320, rs863225219, rs778533826, rs863225215, rs863225216, rs863225218, rs863225217, rs369488112, rs754279998, rs750436680, rs863225150, rs863225211, rs863225212, rs863225425, rs863225426, rs864309712, rs869025276, rs869025277, rs374574638, rs869025278, rs751962801, rs749435317, rs886038200, rs886038203, rs886038204, rs886038206, rs149170427, rs886039465, rs886039436, rs764109067, rs886039794, rs886039810, rs886039808, rs886039809, rs781848162, rs780225183, rs886042153, rs373604132, rs376974221, rs886044058, rs1057516038, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs865870355, rs775043799, rs1057518822, rs1057519442, rs556808514, rs756789619, rs1057520085, rs755097302, rs1060499781, rs757208121, rs1064795687, rs777464278, rs985118235, rs751128300, rs142759730, rs770770257, rs200444162, rs1554084360, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs749421099, rs1131691889, rs369523378, rs1334483830, rs1402669959, rs1554614893, rs867342730, rs781670422, rs1555218898, rs1555616593, rs555421894, rs1554104276, rs1554102026, rs1554103267, rs1554852272, rs987735817, rs1555208870, rs750696284, rs1021950925, rs779450345, rs1456714047, rs1242532564, rs1555497891, rs1553773296, rs780910490, rs1554117456, rs766572502, rs1553827236, rs1189289587, rs372048855, rs776094913, rs1554604482, rs747025617, rs771866500, rs1392635342, rs375170572, rs1560002959, rs1380418532, rs756276537, rs1565822519, rs1563720581, rs200063331, rs753884599, rs776901858, rs1560184664, rs1559307932, rs1565088283, rs1561601398, rs1017750255, rs1563672487, rs144610914, rs539010725, rs777215595, rs752472169, rs972221242, rs1445957469, rs1482303814, rs561598805, rs1592833648, rs1465414886, rs1567800920, rs1577396376, rs751823180, rs775449384, rs746415983, rs587783017, rs778030031, rs751477523, rs751444506, rs187245292, rs1574587553, rs1584867379, rs1574582671, rs1586336362, rs1484807480, rs1305821156, rs1280425167, rs1583179845, rs1583276758, rs1586074742, rs1039146791, rs1592836704, rs1592639588, rs1592668925, rs1434632102, rs1594219498, rs1589150410, rs1259897171, rs1588830568, rs1592784618, rs1579888631, rs1580084520, rs1580686235, rs1221464366, rs1595050325, rs142375551, rs1593376626, rs1359437084, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs1336317768, rs756752153, rs1825358020, rs1375090095, rs761907569, rs770126103, rs1200131247, rs542206983, rs80034299, rs1320076769, rs752197734, rs901508284	25118024, 21462283, 21565611
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645
Meckel syndrome	Meckel syndrome type 1, MECKEL SYNDROME, TYPE 8, Meckel syndrome	rs201108965, rs386833831, rs386833830, rs116358011, rs118204052, rs121918201, rs121918202, rs121918203, rs137852835, rs267606719, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187, rs137853108, rs267607119, rs730880323, rs386834052, rs199874059, rs1487082103, rs374349989, rs143149764, rs786205126, rs386833745, rs386833746, rs386833747, rs386833748, rs386833749, rs386833750, rs386833751, rs386833752, rs386833753, rs386833754, rs386833755, rs386833756, rs386833757, rs386833760, rs386833762, rs386833763, rs386833765, rs11230683, rs386833998, rs386834041, rs386834042, rs386834044, rs386834045, rs386834046, rs386834047, rs386834049, rs386834050, rs201933838, rs386834051, rs386834148, rs386834149, rs386834150, rs386834151, rs386834152, rs386834153, rs62640570, rs386834155, rs386834156, rs386834157, rs386834158, rs386834159, rs386834180, rs386834181, rs386834182, rs386834183, rs386834184, rs386834185, rs386834186, rs386834188, rs386834190, rs386834191, rs386834194, rs386834195, rs386834196, rs386834197, rs386834198, rs386834199, rs386834201, rs386834202, rs386834203, rs386834205, rs386834206, rs386834208, rs397514753, rs397514754, rs377177061, rs386834043, rs756368560, rs797046040, rs760830696, rs797045706, rs779823379, rs386833759, rs749439750, rs539400286, rs863225186, rs863225185, rs758550675, rs749435317, rs375278294, rs886039792, rs886039791, rs886039805, rs886039803, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs865870355, rs775043799, rs763762899, rs1555220638, rs1131692180, rs1555525895, rs1415483600, rs762668200, rs1555220625, rs758593134, rs1369768287, rs1555213204, rs765468645, rs747025617, rs751361090, rs1555599412, rs375170572, rs1560184664, rs773740057, rs1213286417, rs1388769907, rs768237094, rs1209421607, rs1577406415, rs763473957, rs1568484575, rs781310385, rs762633090	21565611, 25118024, 21462283
Meckel-gruber syndrome	Meckel-Gruber syndrome	rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792, rs886039791, rs886039804, rs886039805, rs886039806, rs886039803, rs886039793, rs765468645, rs1598057395, rs768237094	21462283
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Polycystic liver disease	Polycystic liver disease	rs137852944, rs137852949, rs398124483, rs200391019, rs786204696, rs773136605, rs781368899, rs376161880, rs774759689, rs762811727, rs1210158408, rs1565088616, rs1565092566, rs1565092899, rs1565093675, rs1465649718, rs1565099895, rs1565116806, rs769559267, rs200432861, rs367707903, rs1334145215, rs1582441455, rs1582064844, rs1582064292, rs1473182306
Polydactyly	Polydactyly, POLYDACTYLY, POSTAXIAL, Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	21462283
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Meckel Syndrome	Meckel syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Cerebellar Vermis	Associate	37735380
Ciliopathies	Associate	29866362
Endocardial Cushion Defects	Associate	32655147
Meckel syndrome type 1	Associate	29866362, 32655147