TAPT1 (transmembrane anterior posterior transformation 1)

Gene

• Entrez ID: 202018
• Gene name: Transmembrane anterior posterior transformation 1
• Gene symbol: TAPT1
• Synonyms (NCBI Gene): CMVFR, OCLSBG
• Disease Acronyms (UniProt): OCLSBG
• Chromosome: 4
• Chromosome location: 4p15.32
• Summary: This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869312980	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869320633	C>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017563	hsa-miR-335-5p	Microarray	18185580
MIRT044889	hsa-miR-193a-3p	CLASH	23622248
MIRT439485	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT439485	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT1411326	hsa-miR-1238	CLIP-seq
MIRT1411327	hsa-miR-1256	CLIP-seq
MIRT1411328	hsa-miR-1257	CLIP-seq
MIRT1411329	hsa-miR-1278	CLIP-seq
MIRT1411330	hsa-miR-1299	CLIP-seq
MIRT1411331	hsa-miR-1913	CLIP-seq
MIRT1411332	hsa-miR-2355-5p	CLIP-seq
MIRT1411333	hsa-miR-3147	CLIP-seq
MIRT1411334	hsa-miR-3157-5p	CLIP-seq
MIRT1411335	hsa-miR-3183	CLIP-seq
MIRT1411336	hsa-miR-3189-5p	CLIP-seq
MIRT1411337	hsa-miR-324-3p	CLIP-seq
MIRT1411338	hsa-miR-3611	CLIP-seq
MIRT1411339	hsa-miR-3614-5p	CLIP-seq
MIRT1411340	hsa-miR-371-5p	CLIP-seq
MIRT1411341	hsa-miR-377	CLIP-seq
MIRT1411342	hsa-miR-3910	CLIP-seq
MIRT1411343	hsa-miR-3925-3p	CLIP-seq
MIRT1411344	hsa-miR-421	CLIP-seq
MIRT1411345	hsa-miR-4272	CLIP-seq
MIRT1411346	hsa-miR-4279	CLIP-seq
MIRT1411347	hsa-miR-4326	CLIP-seq
MIRT1411348	hsa-miR-4423-5p	CLIP-seq
MIRT1411349	hsa-miR-4424	CLIP-seq
MIRT1411350	hsa-miR-4425	CLIP-seq
MIRT1411351	hsa-miR-4433	CLIP-seq
MIRT1411352	hsa-miR-4476	CLIP-seq
MIRT1411353	hsa-miR-4509	CLIP-seq
MIRT1411354	hsa-miR-4650-5p	CLIP-seq
MIRT1411355	hsa-miR-4663	CLIP-seq
MIRT1411356	hsa-miR-4666-3p	CLIP-seq
MIRT1411357	hsa-miR-4668-3p	CLIP-seq
MIRT1411358	hsa-miR-4682	CLIP-seq
MIRT1411359	hsa-miR-4691-3p	CLIP-seq
MIRT1411360	hsa-miR-4699-3p	CLIP-seq
MIRT1411361	hsa-miR-4723-3p	CLIP-seq
MIRT1411362	hsa-miR-4724-5p	CLIP-seq
MIRT1411363	hsa-miR-4744	CLIP-seq
MIRT1411364	hsa-miR-4758-3p	CLIP-seq
MIRT1411365	hsa-miR-4762-5p	CLIP-seq
MIRT1411366	hsa-miR-4763-5p	CLIP-seq
MIRT1411367	hsa-miR-4782-5p	CLIP-seq
MIRT1411368	hsa-miR-4799-5p	CLIP-seq
MIRT1411369	hsa-miR-495	CLIP-seq
MIRT1411370	hsa-miR-516b	CLIP-seq
MIRT1411371	hsa-miR-520d-5p	CLIP-seq
MIRT1411372	hsa-miR-524-5p	CLIP-seq
MIRT1411373	hsa-miR-543	CLIP-seq
MIRT1411374	hsa-miR-548an	CLIP-seq
MIRT1411375	hsa-miR-576-3p	CLIP-seq
MIRT1411376	hsa-miR-665	CLIP-seq
MIRT1411377	hsa-miR-671-5p	CLIP-seq
MIRT1411378	hsa-miR-766	CLIP-seq
MIRT1411379	hsa-miR-875-3p	CLIP-seq
MIRT2123500	hsa-miR-1322	CLIP-seq
MIRT2123501	hsa-miR-153	CLIP-seq
MIRT2123502	hsa-miR-3187-3p	CLIP-seq
MIRT2123503	hsa-miR-4277	CLIP-seq
MIRT2123504	hsa-miR-4435	CLIP-seq
MIRT2123505	hsa-miR-4638-3p	CLIP-seq
MIRT2123506	hsa-miR-4701-5p	CLIP-seq
MIRT2123507	hsa-miR-4755-3p	CLIP-seq
MIRT2123508	hsa-miR-548s	CLIP-seq
MIRT2123509	hsa-miR-588	CLIP-seq
MIRT2123500	hsa-miR-1322	CLIP-seq
MIRT2345535	hsa-miR-1343	CLIP-seq
MIRT2345536	hsa-miR-194	CLIP-seq
MIRT2345537	hsa-miR-2052	CLIP-seq
MIRT2345538	hsa-miR-2276	CLIP-seq
MIRT1411332	hsa-miR-2355-5p	CLIP-seq
MIRT1411333	hsa-miR-3147	CLIP-seq
MIRT2345539	hsa-miR-3153	CLIP-seq
MIRT1411334	hsa-miR-3157-5p	CLIP-seq
MIRT2345540	hsa-miR-3163	CLIP-seq
MIRT2345541	hsa-miR-3182	CLIP-seq
MIRT2345542	hsa-miR-323b-5p	CLIP-seq
MIRT2345543	hsa-miR-342-5p	CLIP-seq
MIRT2345544	hsa-miR-3660	CLIP-seq
MIRT2345545	hsa-miR-3662	CLIP-seq
MIRT2345546	hsa-miR-3674	CLIP-seq
MIRT2345547	hsa-miR-3679-3p	CLIP-seq
MIRT2345548	hsa-miR-3688-3p	CLIP-seq
MIRT2345549	hsa-miR-3690	CLIP-seq
MIRT2345550	hsa-miR-374a	CLIP-seq
MIRT2345551	hsa-miR-374b	CLIP-seq
MIRT1411341	hsa-miR-377	CLIP-seq
MIRT2345552	hsa-miR-382	CLIP-seq
MIRT1411342	hsa-miR-3910	CLIP-seq
MIRT1411344	hsa-miR-421	CLIP-seq
MIRT2345553	hsa-miR-4254	CLIP-seq
MIRT2345554	hsa-miR-4256	CLIP-seq
MIRT2345555	hsa-miR-4328	CLIP-seq
MIRT1411350	hsa-miR-4425	CLIP-seq
MIRT2345556	hsa-miR-4452	CLIP-seq
MIRT1411353	hsa-miR-4509	CLIP-seq
MIRT2345557	hsa-miR-4526	CLIP-seq
MIRT2345558	hsa-miR-4645-3p	CLIP-seq
MIRT2345559	hsa-miR-4651	CLIP-seq
MIRT2345560	hsa-miR-4664-5p	CLIP-seq
MIRT1411357	hsa-miR-4668-3p	CLIP-seq
MIRT2345561	hsa-miR-4668-5p	CLIP-seq
MIRT1411360	hsa-miR-4699-3p	CLIP-seq
MIRT2345562	hsa-miR-4719	CLIP-seq
MIRT1411363	hsa-miR-4744	CLIP-seq
MIRT2345563	hsa-miR-4762-3p	CLIP-seq
MIRT2345564	hsa-miR-4772-3p	CLIP-seq
MIRT2345565	hsa-miR-4773	CLIP-seq
MIRT2345566	hsa-miR-4789-3p	CLIP-seq
MIRT1411368	hsa-miR-4799-5p	CLIP-seq
MIRT2345567	hsa-miR-513b	CLIP-seq
MIRT2345568	hsa-miR-518a-5p	CLIP-seq
MIRT2345569	hsa-miR-527	CLIP-seq
MIRT1411374	hsa-miR-548an	CLIP-seq
MIRT2345570	hsa-miR-548g	CLIP-seq
MIRT2345571	hsa-miR-561	CLIP-seq
MIRT2345572	hsa-miR-577	CLIP-seq
MIRT2345573	hsa-miR-582-5p	CLIP-seq
MIRT2345574	hsa-miR-608	CLIP-seq
MIRT2345575	hsa-miR-642b	CLIP-seq
MIRT2345576	hsa-miR-659	CLIP-seq
MIRT2345577	hsa-miR-802	CLIP-seq
MIRT1411379	hsa-miR-875-3p	CLIP-seq
MIRT2345578	hsa-miR-944	CLIP-seq
MIRT2345546	hsa-miR-3674	CLIP-seq
MIRT2345552	hsa-miR-382	CLIP-seq
MIRT2461136	hsa-miR-1283	CLIP-seq
MIRT2461137	hsa-miR-4698	CLIP-seq
MIRT2638513	hsa-miR-1243	CLIP-seq
MIRT2638514	hsa-miR-1273e	CLIP-seq
MIRT2123500	hsa-miR-1322	CLIP-seq
MIRT2638515	hsa-miR-1972	CLIP-seq
MIRT1411333	hsa-miR-3147	CLIP-seq
MIRT1411334	hsa-miR-3157-5p	CLIP-seq
MIRT2345540	hsa-miR-3163	CLIP-seq
MIRT2123502	hsa-miR-3187-3p	CLIP-seq
MIRT2638516	hsa-miR-330-3p	CLIP-seq
MIRT2638517	hsa-miR-3654	CLIP-seq
MIRT2345549	hsa-miR-3690	CLIP-seq
MIRT2345553	hsa-miR-4254	CLIP-seq
MIRT2638518	hsa-miR-4327	CLIP-seq
MIRT1411348	hsa-miR-4423-5p	CLIP-seq
MIRT1411350	hsa-miR-4425	CLIP-seq
MIRT2123504	hsa-miR-4435	CLIP-seq
MIRT2638519	hsa-miR-4459	CLIP-seq
MIRT2638520	hsa-miR-4514	CLIP-seq
MIRT2638521	hsa-miR-4645-5p	CLIP-seq
MIRT2638522	hsa-miR-4673	CLIP-seq
MIRT1411359	hsa-miR-4691-3p	CLIP-seq
MIRT2638523	hsa-miR-4692	CLIP-seq
MIRT2123506	hsa-miR-4701-5p	CLIP-seq
MIRT2638524	hsa-miR-4722-5p	CLIP-seq
MIRT2638525	hsa-miR-4725-5p	CLIP-seq
MIRT2123507	hsa-miR-4755-3p	CLIP-seq
MIRT2638526	hsa-miR-504	CLIP-seq
MIRT2638527	hsa-miR-548p	CLIP-seq
MIRT2123508	hsa-miR-548s	CLIP-seq
MIRT2123509	hsa-miR-588	CLIP-seq
MIRT2638528	hsa-miR-7	CLIP-seq
MIRT1411379	hsa-miR-875-3p	CLIP-seq
MIRT2638529	hsa-miR-940	CLIP-seq
MIRT1411333	hsa-miR-3147	CLIP-seq
MIRT2638516	hsa-miR-330-3p	CLIP-seq
MIRT2345549	hsa-miR-3690	CLIP-seq
MIRT2345553	hsa-miR-4254	CLIP-seq
MIRT1411348	hsa-miR-4423-5p	CLIP-seq
MIRT1411350	hsa-miR-4425	CLIP-seq
MIRT2123507	hsa-miR-4755-3p	CLIP-seq
MIRT2638527	hsa-miR-548p	CLIP-seq
MIRT1411379	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0005813	Component	Centrosome	IDA	26365339
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0014032	Process	Neural crest cell development	ISS
GO:0016021	Component	Integral component of membrane	TAS	10640539
GO:0016032	Process	Viral process	IEA
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	TAS	10640539
GO:0030030	Process	Cell projection organization	IEA
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IBA	21873635
GO:0035437	Process	Maintenance of protein localization in endoplasmic reticulum	IBA	21873635
GO:0036064	Component	Ciliary basal body	IBA	21873635
GO:0036064	Component	Ciliary basal body	IDA	26365339
GO:0045724	Process	Positive regulation of cilium assembly	IBA	21873635
GO:0045724	Process	Positive regulation of cilium assembly	IDA	26365339
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0061036	Process	Positive regulation of cartilage development	ISS
GO:1903012	Process	Positive regulation of bone development	ISS

Other IDs

• MIM: 612758
• HGNC: 26887
• e!Ensembl: ENSG00000169762

Protein

• UniProt ID: Q6NXT6
• Protein name: Transmembrane anterior posterior transformation protein 1 homolog (Cytomegalovirus partial fusion receptor)
• Protein function: Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05346	DUF747	155 → 459	Eukaryotic membrane protein family	Family

• Sequence:

  MAGVGDAAAPGEGGGGGVDGPQRDGRGEAEQPGGSGGQGPPPAPQLTETLGFYESDRRRE
  RRRGRTELSLLRFLSAELTRGYFLEHNEAKYTERRERVYTCLRIPRELEKLMVFGIFLCL
  DAFLYVFTLLPLRVFLALFRLLTLPCYGLRDRRLLQPAQVCDILKGVILVICYFMMHYVD
  YSMMYHLIRGQSVIKLYIIYNMLEVADRLFSSFGQDILDALYWTATEPKERKRAHIGVIP
  HFFMAVLYVFLHAILIMVQATTLNVAFNSHNKSLLTIMMSNNFVEIKGSVFKKFEKNNLF
  QMSNSDIKERFTNYVLLLIVCLRNMEQFSWNPDHLWVLFPDVCMVIASEIAVDIVKHAFI
  TKFNDITADVYSEYRASLAFDLVSSRQKNAYTDYSDSVARRMGFIPLPLAVLLIRVVTSS
  IKVQGILSYACVILFYFGLISLKVLNSIVLLGKSCQYVKEAKMEEKLSNPPATCTPGKPS
  SKSQNKCKPSQGLSTEENLSASITKQPIHQKENIIPLLVTSNSDQFLTTPDGDEKDITQD
  NSELKHRSSKKDLLEIDRFTICGNRID

• Sequence length: 567

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Lethal osteochondrodysplasia	Complex lethal osteochondrodysplasia	rs869320633, rs869312980
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
Osteochondrodysplasia	OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061	26365339
Osteogenesis imperfecta	Osteogenesis Imperfecta	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	26365339
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Lethal Osteochondrodysplasia	complex lethal osteochondrodysplasia			GenCC
Cataract	cataract			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	33374314
Neoplasms	Associate	31912669
Osteogenesis Imperfecta	Associate	36652330, 37292039
Progeria	Associate	36652330
Progeroid syndrome neonatal	Associate	36652330