TSPEAR (thrombospondin type laminin G domain and EAR repeats)

Gene

• Entrez ID: 54084
• Gene name: Thrombospondin type laminin G domain and EAR repeats
• Gene symbol: TSPEAR
• Synonyms (NCBI Gene): C21orf29, DFNB98, ECTD14, STHAG10, TSP-EAR
• Disease Acronyms (UniProt): DFNB98, ECTD14, STHAG10
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138480801	C>A,T	Pathogenic, benign, benign-likely-benign	Missense variant, coding sequence variant
rs139455627	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained
rs140542643	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs144586270	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146600721	G>A,C	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs149481227	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151001222	C>T	Benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs1555916009	CCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569165728	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1459992	hsa-let-7a	CLIP-seq
MIRT1459993	hsa-let-7b	CLIP-seq
MIRT1459994	hsa-let-7c	CLIP-seq
MIRT1459995	hsa-let-7d	CLIP-seq
MIRT1459996	hsa-let-7e	CLIP-seq
MIRT1459997	hsa-let-7f	CLIP-seq
MIRT1459998	hsa-let-7g	CLIP-seq
MIRT1459999	hsa-let-7i	CLIP-seq
MIRT1460000	hsa-miR-1202	CLIP-seq
MIRT1460001	hsa-miR-122	CLIP-seq
MIRT1460002	hsa-miR-1275	CLIP-seq
MIRT1460003	hsa-miR-1293	CLIP-seq
MIRT1460004	hsa-miR-1304	CLIP-seq
MIRT1460005	hsa-miR-1307	CLIP-seq
MIRT1460006	hsa-miR-1343	CLIP-seq
MIRT1460007	hsa-miR-1468	CLIP-seq
MIRT1460008	hsa-miR-202	CLIP-seq
MIRT1460009	hsa-miR-223	CLIP-seq
MIRT1460010	hsa-miR-2467-5p	CLIP-seq
MIRT1460011	hsa-miR-3128	CLIP-seq
MIRT1460012	hsa-miR-3148	CLIP-seq
MIRT1460013	hsa-miR-3173-3p	CLIP-seq
MIRT1460014	hsa-miR-3188	CLIP-seq
MIRT1460015	hsa-miR-326	CLIP-seq
MIRT1460016	hsa-miR-330-5p	CLIP-seq
MIRT1460017	hsa-miR-3607-5p	CLIP-seq
MIRT1460018	hsa-miR-3615	CLIP-seq
MIRT1460019	hsa-miR-3663-3p	CLIP-seq
MIRT1460020	hsa-miR-3689d	CLIP-seq
MIRT1460021	hsa-miR-3690	CLIP-seq
MIRT1460022	hsa-miR-3942-3p	CLIP-seq
MIRT1460023	hsa-miR-3972	CLIP-seq
MIRT1460024	hsa-miR-4254	CLIP-seq
MIRT1460025	hsa-miR-4259	CLIP-seq
MIRT1460026	hsa-miR-4271	CLIP-seq
MIRT1460027	hsa-miR-4281	CLIP-seq
MIRT1460028	hsa-miR-4285	CLIP-seq
MIRT1460029	hsa-miR-4447	CLIP-seq
MIRT1460030	hsa-miR-4458	CLIP-seq
MIRT1460031	hsa-miR-4472	CLIP-seq
MIRT1460032	hsa-miR-4481	CLIP-seq
MIRT1460033	hsa-miR-4483	CLIP-seq
MIRT1460034	hsa-miR-4500	CLIP-seq
MIRT1460035	hsa-miR-4525	CLIP-seq
MIRT1460036	hsa-miR-4532	CLIP-seq
MIRT1460037	hsa-miR-4533	CLIP-seq
MIRT1460038	hsa-miR-4638-5p	CLIP-seq
MIRT1460039	hsa-miR-4651	CLIP-seq
MIRT1460040	hsa-miR-4665-5p	CLIP-seq
MIRT1460041	hsa-miR-4668-3p	CLIP-seq
MIRT1460042	hsa-miR-4668-5p	CLIP-seq
MIRT1460043	hsa-miR-4695-5p	CLIP-seq
MIRT1460044	hsa-miR-4720-5p	CLIP-seq
MIRT1460045	hsa-miR-4722-5p	CLIP-seq
MIRT1460046	hsa-miR-4723-5p	CLIP-seq
MIRT1460047	hsa-miR-4725-3p	CLIP-seq
MIRT1460048	hsa-miR-4731-5p	CLIP-seq
MIRT1460049	hsa-miR-4745-5p	CLIP-seq
MIRT1460050	hsa-miR-4747-5p	CLIP-seq
MIRT1460051	hsa-miR-4768-5p	CLIP-seq
MIRT1460052	hsa-miR-4776-3p	CLIP-seq
MIRT1460053	hsa-miR-4799-3p	CLIP-seq
MIRT1460054	hsa-miR-509-3p	CLIP-seq
MIRT1460055	hsa-miR-548c-3p	CLIP-seq
MIRT1460056	hsa-miR-577	CLIP-seq
MIRT1460057	hsa-miR-605	CLIP-seq
MIRT1460058	hsa-miR-608	CLIP-seq
MIRT1460059	hsa-miR-615-5p	CLIP-seq
MIRT1460060	hsa-miR-625	CLIP-seq
MIRT1460061	hsa-miR-7	CLIP-seq
MIRT1460062	hsa-miR-876-3p	CLIP-seq
MIRT1460063	hsa-miR-98	CLIP-seq
MIRT1460002	hsa-miR-1275	CLIP-seq
MIRT1460020	hsa-miR-3689d	CLIP-seq
MIRT1460025	hsa-miR-4259	CLIP-seq
MIRT1460027	hsa-miR-4281	CLIP-seq
MIRT1460035	hsa-miR-4525	CLIP-seq
MIRT1460040	hsa-miR-4665-5p	CLIP-seq
MIRT1460046	hsa-miR-4723-5p	CLIP-seq
MIRT1460048	hsa-miR-4731-5p	CLIP-seq
MIRT1460059	hsa-miR-615-5p	CLIP-seq
MIRT1460060	hsa-miR-625	CLIP-seq
MIRT1460002	hsa-miR-1275	CLIP-seq
MIRT2138117	hsa-miR-27a	CLIP-seq
MIRT2138118	hsa-miR-27b	CLIP-seq
MIRT2138119	hsa-miR-3605-5p	CLIP-seq
MIRT2138120	hsa-miR-3652	CLIP-seq
MIRT1460020	hsa-miR-3689d	CLIP-seq
MIRT1460025	hsa-miR-4259	CLIP-seq
MIRT1460027	hsa-miR-4281	CLIP-seq
MIRT2138121	hsa-miR-4430	CLIP-seq
MIRT1460035	hsa-miR-4525	CLIP-seq
MIRT1460040	hsa-miR-4665-5p	CLIP-seq
MIRT1460045	hsa-miR-4722-5p	CLIP-seq
MIRT1460046	hsa-miR-4723-5p	CLIP-seq
MIRT1460048	hsa-miR-4731-5p	CLIP-seq
MIRT2138122	hsa-miR-513a-5p	CLIP-seq
MIRT2138123	hsa-miR-552	CLIP-seq
MIRT1460059	hsa-miR-615-5p	CLIP-seq
MIRT1460060	hsa-miR-625	CLIP-seq
MIRT2138124	hsa-miR-764	CLIP-seq
MIRT2359078	hsa-miR-1245b-3p	CLIP-seq
MIRT2359079	hsa-miR-1296	CLIP-seq
MIRT2359080	hsa-miR-1301	CLIP-seq
MIRT2138117	hsa-miR-27a	CLIP-seq
MIRT2138118	hsa-miR-27b	CLIP-seq
MIRT2359081	hsa-miR-2909	CLIP-seq
MIRT2359082	hsa-miR-2964a-5p	CLIP-seq
MIRT2359083	hsa-miR-3117-5p	CLIP-seq
MIRT2359084	hsa-miR-3120-5p	CLIP-seq
MIRT2359085	hsa-miR-346	CLIP-seq
MIRT2359086	hsa-miR-4288	CLIP-seq
MIRT2359087	hsa-miR-4330	CLIP-seq
MIRT2359088	hsa-miR-4436b-3p	CLIP-seq
MIRT2359089	hsa-miR-4649-5p	CLIP-seq
MIRT2359090	hsa-miR-4660	CLIP-seq
MIRT2359091	hsa-miR-4675	CLIP-seq
MIRT2359092	hsa-miR-4741	CLIP-seq
MIRT2359093	hsa-miR-4761-3p	CLIP-seq
MIRT2359094	hsa-miR-4764-5p	CLIP-seq
MIRT2359095	hsa-miR-5047	CLIP-seq
MIRT2138122	hsa-miR-513a-5p	CLIP-seq
MIRT2359096	hsa-miR-514	CLIP-seq
MIRT2359097	hsa-miR-514b-3p	CLIP-seq
MIRT2138123	hsa-miR-552	CLIP-seq
MIRT2359098	hsa-miR-626	CLIP-seq
MIRT2359099	hsa-miR-632	CLIP-seq
MIRT2138124	hsa-miR-764	CLIP-seq
MIRT1460002	hsa-miR-1275	CLIP-seq
MIRT1460020	hsa-miR-3689d	CLIP-seq
MIRT2396438	hsa-miR-4258	CLIP-seq
MIRT1460025	hsa-miR-4259	CLIP-seq
MIRT1460027	hsa-miR-4281	CLIP-seq
MIRT1460035	hsa-miR-4525	CLIP-seq
MIRT1460040	hsa-miR-4665-5p	CLIP-seq
MIRT1460046	hsa-miR-4723-5p	CLIP-seq
MIRT1460048	hsa-miR-4731-5p	CLIP-seq
MIRT1460059	hsa-miR-615-5p	CLIP-seq
MIRT1460060	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005576	Component	Extracellular region	IEA
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007605	Process	Sensory perception of sound	IMP	22678063
GO:0008593	Process	Regulation of Notch signaling pathway	IMP	27736875
GO:0009986	Component	Cell surface	ISS
GO:0022405	Process	Hair cycle process	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0034505	Process	Tooth mineralization	IMP	27736875
GO:0060170	Component	Ciliary membrane	IEA

Other IDs

• MIM: 612920
• HGNC: 1268
• e!Ensembl: ENSG00000175894

Protein

• UniProt ID: Q8WU66
• Protein name: Thrombospondin-type laminin G domain and EAR repeat-containing protein (TSP-EAR)
• Protein function: Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063). {ECO:0000269|PubMed:22678063
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03736	EPTP	360 → 407	EPTP domain	Repeat
  PF03736	EPTP	412 → 459	EPTP domain	Repeat
  PF03736	EPTP	464 → 509	EPTP domain	Repeat
  PF03736	EPTP	514 → 569	EPTP domain	Repeat
  PF03736	EPTP	574 → 621	EPTP domain	Repeat

• Sequence:

  MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQ
  LSVAAPRTMSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLG
  LRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTLVLAVSAGVFSLTTDCGLPVD
  IMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPRLCPSRNAPLAVL
  SIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGN
  EWVSVLAAKERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEK
  FVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIA
  THSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEANQTIATSGAYDWE
  FFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFL
  AVANSHSYDVEMQVQNDSYVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFL
  VVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPL
  SRVLRLRTR

• Sequence length: 669

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Deafness	DEAFNESS, AUTOSOMAL RECESSIVE 98	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	22678063
Ectodermal dysplasia	ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS, ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157	27736875
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	27736875, 22678063, 26969326

Unknown
Disease term	Disease name	Evidence	References	Source
Ectodermal Dysplasia	ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis			GenCC
Corticobasal Degeneration	Corticobasal Degeneration			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	40708016
Anodontia	Associate	30046887, 34042254
Deafness Autosomal Recessive	Associate	30046887
Deafness oligodontia syndrome	Associate	40428341
Ectodermal Dysplasia	Associate	34042254, 35741818, 40428341
Genetic Diseases Inborn	Associate	33494993
Hair Diseases	Associate	40428341
Hearing Loss	Associate	34042254
Hearing Loss Sensorineural	Associate	34795337
Microphthalmia syndromic 2	Associate	30046887
Nonsyndromic Deafness	Associate	34042254
Pulmonary Disease Chronic Obstructive	Associate	36924977
Zlotogora Ogur syndrome	Associate	40428341