STK36 (serine/threonine kinase 36)

Gene

• Entrez ID: 27148
• Gene name: Serine/threonine kinase 36
• Gene symbol: STK36
• Synonyms (NCBI Gene): CILD46, FU
• Disease Acronyms (UniProt): CILD46
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022162	hsa-miR-124-3p	Microarray	18668037
MIRT614439	hsa-miR-8485	HITS-CLIP	23824327
MIRT614438	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614437	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT629817	hsa-miR-603	HITS-CLIP	23824327
MIRT614436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT614435	hsa-miR-3941	HITS-CLIP	23824327
MIRT614434	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT614439	hsa-miR-8485	HITS-CLIP	23824327
MIRT614438	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614437	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT614435	hsa-miR-3941	HITS-CLIP	23824327
MIRT614434	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT734321	hsa-miR-21-5p	Immunofluorescence, qRT-PCR, RNA-seq, Western blotting	31735554
MIRT734322	hsa-miR-146b-3p	Immunofluorescence, qRT-PCR, RNA-seq, Western blotting	31735554
MIRT734323	hsa-miR-5571-3p	Immunofluorescence, qRT-PCR, RNA-seq, Western blotting	31735554
MIRT734324	hsa-miR-6503-3p	Immunofluorescence, qRT-PCR, RNA-seq, Western blotting	31735554
MIRT614439	hsa-miR-8485	HITS-CLIP	23824327
MIRT614438	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614437	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT629817	hsa-miR-603	HITS-CLIP	23824327
MIRT614436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT614435	hsa-miR-3941	HITS-CLIP	23824327
MIRT614434	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT614439	hsa-miR-8485	HITS-CLIP	23824327
MIRT614438	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614437	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT614435	hsa-miR-3941	HITS-CLIP	23824327
MIRT614434	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT1397927	hsa-miR-124	CLIP-seq
MIRT1397928	hsa-miR-1343	CLIP-seq
MIRT1397929	hsa-miR-329	CLIP-seq
MIRT1397930	hsa-miR-3714	CLIP-seq
MIRT1397931	hsa-miR-3910	CLIP-seq
MIRT1397932	hsa-miR-4521	CLIP-seq
MIRT1397933	hsa-miR-4640-5p	CLIP-seq
MIRT1397934	hsa-miR-4726-5p	CLIP-seq
MIRT1397935	hsa-miR-506	CLIP-seq
MIRT2119282	hsa-miR-2117	CLIP-seq
MIRT2119283	hsa-miR-3163	CLIP-seq
MIRT2119284	hsa-miR-4264	CLIP-seq
MIRT2119285	hsa-miR-4273	CLIP-seq
MIRT2119286	hsa-miR-4677-5p	CLIP-seq
MIRT2119287	hsa-miR-4797-3p	CLIP-seq
MIRT2119288	hsa-miR-578	CLIP-seq
MIRT1397927	hsa-miR-124	CLIP-seq
MIRT2341457	hsa-miR-1297	CLIP-seq
MIRT1397928	hsa-miR-1343	CLIP-seq
MIRT2341458	hsa-miR-2355-3p	CLIP-seq
MIRT2341459	hsa-miR-26a	CLIP-seq
MIRT2341460	hsa-miR-26b	CLIP-seq
MIRT2341461	hsa-miR-3192	CLIP-seq
MIRT2341462	hsa-miR-4300	CLIP-seq
MIRT2341463	hsa-miR-4465	CLIP-seq
MIRT2341464	hsa-miR-4484	CLIP-seq
MIRT1397935	hsa-miR-506	CLIP-seq
MIRT2341465	hsa-miR-520d-5p	CLIP-seq
MIRT2341466	hsa-miR-524-5p	CLIP-seq
MIRT2341467	hsa-miR-548an	CLIP-seq
MIRT2341468	hsa-miR-676	CLIP-seq
MIRT2341469	hsa-miR-920	CLIP-seq
MIRT2395353	hsa-miR-581	CLIP-seq
MIRT2635416	hsa-miR-1208	CLIP-seq
MIRT1397927	hsa-miR-124	CLIP-seq
MIRT1397928	hsa-miR-1343	CLIP-seq
MIRT2635417	hsa-miR-28-5p	CLIP-seq
MIRT2635418	hsa-miR-3120-5p	CLIP-seq
MIRT2635419	hsa-miR-3139	CLIP-seq
MIRT2635420	hsa-miR-3155	CLIP-seq
MIRT2635421	hsa-miR-3155b	CLIP-seq
MIRT2635422	hsa-miR-370	CLIP-seq
MIRT1397930	hsa-miR-3714	CLIP-seq
MIRT1397931	hsa-miR-3910	CLIP-seq
MIRT2635423	hsa-miR-4438	CLIP-seq
MIRT1397932	hsa-miR-4521	CLIP-seq
MIRT1397933	hsa-miR-4640-5p	CLIP-seq
MIRT2635424	hsa-miR-4646-5p	CLIP-seq
MIRT2635425	hsa-miR-4699-5p	CLIP-seq
MIRT1397934	hsa-miR-4726-5p	CLIP-seq
MIRT2635426	hsa-miR-4731-5p	CLIP-seq
MIRT2635427	hsa-miR-4747-5p	CLIP-seq
MIRT2635428	hsa-miR-484	CLIP-seq
MIRT1397935	hsa-miR-506	CLIP-seq
MIRT2635429	hsa-miR-548ac	CLIP-seq
MIRT2635430	hsa-miR-548d-3p	CLIP-seq
MIRT2635431	hsa-miR-548z	CLIP-seq
MIRT2635432	hsa-miR-708	CLIP-seq
MIRT2635433	hsa-miR-760	CLIP-seq
MIRT2635416	hsa-miR-1208	CLIP-seq
MIRT1397927	hsa-miR-124	CLIP-seq
MIRT2692258	hsa-miR-1252	CLIP-seq
MIRT1397928	hsa-miR-1343	CLIP-seq
MIRT2635417	hsa-miR-28-5p	CLIP-seq
MIRT2692259	hsa-miR-3120-3p	CLIP-seq
MIRT2635418	hsa-miR-3120-5p	CLIP-seq
MIRT2635419	hsa-miR-3139	CLIP-seq
MIRT2635420	hsa-miR-3155	CLIP-seq
MIRT2635421	hsa-miR-3155b	CLIP-seq
MIRT2119283	hsa-miR-3163	CLIP-seq
MIRT2341461	hsa-miR-3192	CLIP-seq
MIRT2635422	hsa-miR-370	CLIP-seq
MIRT1397930	hsa-miR-3714	CLIP-seq
MIRT1397931	hsa-miR-3910	CLIP-seq
MIRT2692260	hsa-miR-3942-5p	CLIP-seq
MIRT2692261	hsa-miR-4282	CLIP-seq
MIRT2692262	hsa-miR-4314	CLIP-seq
MIRT2692263	hsa-miR-4434	CLIP-seq
MIRT2635423	hsa-miR-4438	CLIP-seq
MIRT2692264	hsa-miR-4516	CLIP-seq
MIRT1397932	hsa-miR-4521	CLIP-seq
MIRT1397933	hsa-miR-4640-5p	CLIP-seq
MIRT2635424	hsa-miR-4646-5p	CLIP-seq
MIRT2692265	hsa-miR-4699-3p	CLIP-seq
MIRT2635425	hsa-miR-4699-5p	CLIP-seq
MIRT2692266	hsa-miR-4703-5p	CLIP-seq
MIRT1397934	hsa-miR-4726-5p	CLIP-seq
MIRT2635426	hsa-miR-4731-5p	CLIP-seq
MIRT2635427	hsa-miR-4747-5p	CLIP-seq
MIRT2692267	hsa-miR-4793-5p	CLIP-seq
MIRT2635428	hsa-miR-484	CLIP-seq
MIRT1397935	hsa-miR-506	CLIP-seq
MIRT2635429	hsa-miR-548ac	CLIP-seq
MIRT2635430	hsa-miR-548d-3p	CLIP-seq
MIRT2635431	hsa-miR-548z	CLIP-seq
MIRT2692268	hsa-miR-563	CLIP-seq
MIRT2692269	hsa-miR-570	CLIP-seq
MIRT2635432	hsa-miR-708	CLIP-seq
MIRT2635433	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IMP	31279575
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	10806483
GO:0005515	Function	Protein binding	IPI	10806483, 25241761, 32814053
GO:0005524	Function	ATP binding	TAS	10806483
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	10806483
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	10806483
GO:0005829	Component	Cytosol	IDA
GO:0006468	Process	Protein phosphorylation	TAS	10806483
GO:0007224	Process	Smoothened signaling pathway	IMP	31279575
GO:0007228	Process	Positive regulation of hh target transcription factor activity	IBA	21873635
GO:0007228	Process	Positive regulation of hh target transcription factor activity	ISS
GO:0007420	Process	Brain development	IEA
GO:0008134	Function	Transcription factor binding	IDA	10806483
GO:0009791	Process	Post-embryonic development	ISS
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	IDA	10806483
GO:0060271	Process	Cilium assembly	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 607652
• HGNC: 17209
• e!Ensembl: ENSG00000163482

Protein

• UniProt ID: Q9NRP7
• Protein name: Serine/threonine-protein kinase 36 (EC 2.7.11.1) (Fused homolog)
• Protein function: Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	4 → 254	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at low levels in most fetal tissues, adult ovaries and at high levels in adult testis, where it is localized in germ cells (PubMed:10806483). Expressed in respiratory epithelial cells of the lung (PubMed:28543983). {ECO:00002
• Sequence:

  MEKYHVLEMIGEGSFGRVYKGRRKYSAQVVALKFIPKLGRSEKELRNLQREIEIMRGLRH
  PNIVHMLDSFETDKEVVVVTDYAEGELFQILEDDGKLPEDQVQAIAAQLVSALYYLHSHR
  ILHRDMKPQNILLAKGGGIKLCDFGFARAMSTNTMVLTSIKGTPLYMSPELVEERPYDHT
  ADLWSVGCILYELAVGTPPFYATSIFQLVSLILKDPVRWPSTISPCFKNFLQGLLTKDPR
  QRLSWPDLLYHPFIAGHVTIITEPAGPDLGTPFTSRLPPELQVLKDEQAHRLAPKGNQSR
  ILTQAYKRMAEEAMQKKHQNTGPALEQEDKTSKVAPGTAPLPRLGATPQESSLLAGILAS
  ELKSSWAKSGTGEVPSAPRENRTTPDCERAFPEERPEVLGQRSTDVVDLENEEPDSDNEW
  QHLLETTEPVPIQLKAPLTLLCNPDFCQRIQSQLHEAGGQILKGILEGASHILPAFRVLS
  SLLSSCSDSVALYSFCREAGLPGLLLSLLRHSQESNSLQQQSWYGTFLQDLMAVIQAYFA
  CTFNLERSQTSDSLQVFQEAANLFLDLLGKLLAQPDDSEQTLRRDSLMCFTVLCEAMDGN
  SRAISKAFYSSLLTTQQVVLDGLLHGLTVPQLPVHTPQGAPQVSQPLREQSEDIPGAISS
  ALAAICTAPVGLPDCWDAKEQVCWHLANQLTEDSSQLRPSLISGLQHPILCLHLLKVLYS
  CCLVSEGLCRLLGQEPLALESLFMLIQGKVKVVDWEESTEVTLYFLSLLVFRLQNLPCGM
  EKLGSDVATLFTHSHVVSLVSAAACLLGQLGQQGVTFDLQPMEWMAAATHALSAPAEVRL
  TPPGSCGFYDGLLILLLQLLTEQGKASLIRDMSSSEMWTVLWHRFSMVLRLPEEASAQEG
  ELSLSSPPSPEPDWTLISPQGMAALLSLAMATFTQEPQLCLSCLSQHGSILMSILKHLLC
  PSFLNQLRQAPHGSEFLPVVVLSVCQLLCFPFALDMDADLLIGVLADLRDSEVAAHLLQV
  CCYHLPLMQVELPISLLTRLALMDPTSLNQFVNTVSASPRTIVSFLSVALLSDQPLLTSD
  LLSLLAHTARVLSPSHLSFIQELLAGSDESYRPLRSLLGHPENSVRAHTYRLLGHLLQHS
  MALRGALQSQSGLLSLLLLGLGDKDPVVRCSASFAVGNAAYQAGPLGPALAAAVPSMTQL
  LGDPQAGIRRNVASALGNLGPEGLGEELLQCEVPQRLLEMACGDPQPNVKEAALIALRSL
  QQEPGIHQVLVSLGASEKLSLLSLGNQSLPHSSPRPASAKHCRKLIHLLRPAHSM

• Sequence length: 1315

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	22959728
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Ciliary dyskinesia	Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia	rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450, rs121908854, rs121908855, rs1554294478, rs79967166, rs121908853, rs1580543863, rs62642057, rs62638634, rs137852549, rs606231180, rs606231181, rs387907021, rs397515392, rs397515393, rs387907092, rs387907093, rs387907151, rs387907152, rs397515395, rs587776910, rs145457535, rs368260932, rs147718607, rs606231238, rs606231239, rs201133219, rs606231240, rs672601333, rs751785066, rs397514561, rs397515413, rs397515414, rs397515424, rs141945265, rs397515425, rs200321595, rs312262868, rs587776997, rs142371860, rs373501414, rs397515540, rs397515541, rs397515563, rs587778819, rs587778820, rs587778821, rs587778822, rs138815960, rs587777043, rs587777044, rs397515460, rs587777045, rs200913791, rs397515461, rs587777047, rs587777048, rs587777049, rs138320978, rs587777058, rs587777059, rs151107532, rs397518455, rs397518456, rs397515340, rs397515488, rs397515621, rs397515622, rs397518458, rs201740530, rs886037653, rs863223325, rs143740376, rs398122401, rs869320683, rs398122960, rs369037463, rs398123336, rs281865301, rs62635001, rs62635002, rs62653029, rs281865304, rs281865296, rs62635010, rs62635009, rs62635011, rs62635013, rs62650215, rs62638627, rs62638626, rs62638639, rs62638642, rs281865297, rs62650216, rs62638652, rs62638655, rs62640586, rs62640588, rs62640592, rs281865295, rs587777199, rs587777498, rs587777499, rs587777500, rs587777501, rs587777502, rs587777503, rs587777635, rs587777780, rs727502975, rs727502971, rs727504802, rs727502977, rs727504815, rs727503394, rs730882261, rs780175755, rs769054713, rs374909386, rs796052117, rs796052118, rs875989825, rs796052119, rs797045086, rs797045085, rs797044945, rs397515341, rs544674332, rs771663107, rs797045152, rs797045151, rs777031813, rs142800871, rs760123202, rs145742175, rs202094637, rs863224531, rs756235547, rs863224503, rs769458738, rs863224504, rs754867753, rs863224519, rs771214648, rs748688175, rs755553133, rs566755911, rs779506456, rs748618094, rs148891849, rs864622512, rs762664261, rs1060501460, rs753614861, rs72657316, rs200693106, rs876657683, rs876657637, rs752924362, rs750708201, rs878855279, rs773801386, rs878855280, rs571919972, rs755407407, rs775946081, rs755596256, rs878854458, rs878854457, rs762081081, rs144711161, rs878854441, rs72657321, rs757013900, rs878854444, rs878854445, rs878854446, rs72657393, rs878854435, rs878854436, rs1554294459, rs878855036, rs878854968, rs769284314, rs200669099, rs878855078, rs878855041, rs878855042, rs879253744, rs201213030, rs771920114, rs868755574, rs754776389, rs775700619, rs886037888, rs886037889, rs886039500, rs886039340, rs769346541, rs886041376, rs753101269, rs886042735, rs886044152, rs201943194, rs886044302, rs775696136, rs78484669, rs773498002, rs138890576, rs577069249, rs587621539, rs200901816, rs1060501456, rs773711154, rs752925056, rs1554020233, rs1060501464, rs769691189, rs767019228, rs1060501461, rs1060501467, rs1060501455, rs1060501459, rs1060501457, rs1060501466, rs1060501458, rs775051461, rs1060501454, rs781469274, rs759059925, rs766256391, rs1060503056, rs1060503063, rs1060503388, rs371374918, rs1060503107, rs144405450, rs752479330, rs1060503041, rs774903187, rs1060503104, rs763569711, rs1060503495, rs1060503515, rs752795172, rs1060501178, rs372572996, rs902156961, rs1060502829, rs1060503433, rs1060502202, rs200708870, rs775299709, rs370706991, rs141581673, rs774081599, rs757536895, rs756430359, rs770143722, rs1064792947, rs1060501861, rs1060500990, rs1060502831, rs372166228, rs1060501181, rs1060500123, rs772219642, rs1064795496, rs1064794014, rs575017579, rs1555354198, rs779490893, rs1555961832, rs1555961852, rs1555964133, rs768986129, rs1355068287, rs751845138, rs745800344, rs1553800956, rs1210953680, rs1007345781, rs1553805885, rs1553803540, rs1553804209, rs1553804640, rs746049858, rs1554049087, rs1554058577, rs1474945018, rs1554074565, rs753397685, rs754698253, rs1554033855, rs1353723750, rs763440781, rs367877988, rs747900131, rs749082955, rs1554062097, rs1554090622, rs1554090927, rs767716511, rs1554017211, rs753130398, rs745918507, rs1273352530, rs1354919632, rs368644722, rs1161303371, rs1283070426, rs755136231, rs1443540935, rs548521732, rs989235687, rs776686983, rs1554101045, rs116128702, rs1554132747, rs376576474, rs775136764, rs1034327724, rs902750903, rs750528020, rs753496815, rs771781357, rs1261703349, rs765025514, rs1554309352, rs1286036654, rs72657333, rs1554269295, rs373844629, rs767595964, rs1554293484, rs775720394, rs1212535211, rs1162526607, rs769637393, rs1554312483, rs1164659091, rs1275718084, rs202236144, rs972753865, rs147811057, rs1554248794, rs1554248887, rs950490534, rs1554291973, rs1275662909, rs1229952265, rs1554255966, rs1465404366, rs1409069267, rs1555174708, rs777108430, rs1555328022, rs1555328130, rs1555328047, rs758650222, rs1555526915, rs746242380, rs1555519999, rs762843285, rs758109864, rs1555614910, rs751191119, rs756868374, rs773796940, rs1555875358, rs556286752, rs1186608353, rs1555723797, rs745465871, rs773208371, rs745993158, rs1554082275, rs1555961677, rs1349668884, rs751610886, rs376496894, rs1554292398, rs1555327917, rs375053470, rs981267400, rs1555721837, rs769795916, rs1462578042, rs146412095, rs1553804220, rs1415346246, rs1553805740, rs1553804100, rs1275367324, rs886059965, rs1554081658, rs754982008, rs1554035330, rs1554050517, rs1554072027, rs756032160, rs77377082, rs79185772, rs775866092, rs1304504006, rs1193586811, rs1554082872, rs768881056, rs1554019966, rs1554247978, rs774393276, rs1554248617, rs766707325, rs756868889, rs1554249521, rs1437893220, rs770372463, rs749731714, rs1233811324, rs1554281038, rs757784023, rs551275210, rs750603177, rs769220870, rs1380083184, rs1554282583, rs763900107, rs769224534, rs747121305, rs1554822213, rs1555328087, rs1555327928, rs1233603821, rs745495583, rs1555527001, rs897911822, rs780116486, rs1421531868, rs746361802, rs1555968248, rs144037391, rs1305797678, rs1555071691, rs561237622, rs767760877, rs754773453, rs1555069023, rs372118787, rs774493427, rs1569237206, rs1560079213, rs1560086701, rs1560092440, rs1370489117, rs1561097225, rs914675446, rs748171209, rs1188507108, rs1561487416, rs1561073938, rs769691641, rs1561215953, rs1175877764, rs146087064, rs1561532139, rs574586008, rs1561117442, rs1444391928, rs145974361, rs1561836628, rs376903331, rs769929539, rs1436804091, rs1285431486, rs180897552, rs1562590250, rs1562684798, rs374107286, rs1562521048, rs1175443221, rs1563815206, rs753580394, rs1560090006, rs1560092160, rs778577109, rs1561122898, rs745885469, rs1561477725, rs757801770, rs1561524235, rs771956532, rs1391084505, rs769267893, rs1297857806, rs751920647, rs755782051, rs756616538, rs767713588, rs1297261096, rs768447289, rs374718437, rs1484826593, rs1561241156, rs769544175, rs565076112, rs1158185476, rs776176679, rs1562782355, rs1223799853, rs776791493, rs368248592, rs753649614, rs148810969, rs1346603171, rs371595543, rs1418585908, rs1567818236, rs761851970, rs748869874, rs766394527, rs753915759, rs1159887305, rs770403610, rs1240172375, rs764011276, rs770946088, rs764551914, rs1480671731, rs1568667609, rs1568709952, rs747233125, rs750658321, rs543369426, rs1569122408, rs1561449604, rs750649191, rs1564805053, rs1564805039, rs372959912, rs1564800859, rs577714887, rs766482965, rs1267599270, rs763238622, rs143007518, rs1567808990, rs969193071, rs867177356, rs1569162748, rs1561476089, rs377691013, rs1309805676, rs1569237077, rs1327282449, rs767308949, rs139416233, rs1567819753, rs1448501611, rs748600370, rs1601943268, rs750136163, rs1576941580, rs1256848235, rs747980515, rs1245822059, rs760742856, rs1579881985, rs762673561, rs1579942226, rs1579942510, rs1579980919, rs1580072662, rs369683202, rs1580150353, rs764948792, rs760595654, rs1580180757, rs1580203399, rs560398270, rs1309660408, rs981622980, rs1580363231, rs1580457416, rs767779749, rs116524991, rs1580543538, rs1580578744, rs1221785647, rs1252973555, rs1580809557, rs778780449, rs1164037667, rs1580853061, rs1580412021, rs1398588555, rs1561121987, rs753041231, rs748664881, rs1400425886, rs760122351, rs757935663, rs149070832, rs747123680, rs1582373132, rs1554149875, rs559143773, rs1583508118, rs949492765, rs1583567611, rs373946181, rs1237605731, rs756115857, rs1583806864, rs761855200, rs759332741, rs1489856215, rs201507046, rs1583517442, rs770251775, rs1586586381, rs369669370, rs1588663203, rs776979382, rs1003676784, rs1594608287, rs1489377964, rs1598330492, rs1598342751, rs755004291, rs1278589861, rs1277185772, rs763874734, rs753105954, rs373312648, rs369312501, rs1580179985, rs1580411207, rs1580465796, rs1579894454, rs1580143916, rs1582865345, rs200115379, rs372080325, rs1583570354, rs1583647043, rs72657354, rs767624733, rs1587089935, rs1587067513, rs1587091911, rs746849797, rs1598278059, rs1580731750, rs368110732, rs1597843267, rs1598348312, rs1217845018, rs1598372830, rs1598372841, rs1598372878, rs1598372791, rs1580402818, rs752527657, rs1601917999, rs1601922202, rs1601961064, rs1601982532, rs759302236, rs1597643228, rs1598293348, rs1601918140, rs745839898, rs1555961440, rs1601920423, rs907856232, rs281865302, rs1601972255, rs1601931052, rs1745570250, rs149368374, rs1601943325, rs1253689023, rs1575588483, rs1575215909, rs766982731, rs782603932, rs201244916, rs781864891, rs372955658, rs758482424, rs1601920532, rs1601924055, rs1601982474, rs1663812465, rs757823891, rs771057685, rs1711717951, rs1743041017, rs1744302993, rs1744309029, rs1744699899, rs1750171365, rs1750339039, rs1751962280, rs1752478598, rs1561215326, rs1264701182, rs1754234425, rs1465499923, rs1762460445, rs1762470883, rs148139814, rs760081822, rs1772369775, rs189080233, rs1778379197, rs1291689114, rs1176911729, rs769899297, rs1745583820, rs757303224, rs762267064, rs1416631904, rs749372718, rs72655998, rs756850884, rs765778415, rs1479385947, rs72658823, rs1162823375, rs370565524, rs746849639, rs973819096, rs1818211696, rs979934112, rs772133192, rs2051792816, rs2053367000, rs1567876609, rs2038617610, rs2085791151, rs770306950, rs2067876063, rs1468349011, rs1815572053, rs1268770869, rs1360420006, rs1772232595, rs774855011, rs1785786687, rs1788083949, rs2051550027, rs2037540861, rs753831132, rs937290981, rs766759197, rs1336208372, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067140471, rs2067144007, rs2067146007, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067172824, rs2067174697, rs1233849070, rs2067182354, rs2067182636, rs2067184023, rs2067187127, rs2067187618, rs2067188031, rs2067191335, rs2067193056, rs2067194648, rs2067406342, rs2067451355, rs2067700774, rs2067878321, rs2067878443, rs1718119792, rs1704217868, rs1704650728, rs1273109738, rs1768634470, rs1769225531, rs1298746949, rs1784195520, rs1788086604, rs1789346276, rs2058179740, rs2038565518, rs781949585, rs2038760864, rs1718195095, rs1783569129, rs1739374011, rs2082305577, rs2067148119, rs2067166789, rs2067172385, rs2067179633, rs2067200470, rs2067498092, rs771953930	28543983
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331	27793025
Hearing loss	Conductive hearing loss	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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Kartagener syndrome	Kartagener Syndrome, Polynesian Bronchiectasis	rs397515339, rs267607227, rs137853191, rs397515363, rs606231164, rs79833450, rs606231165, rs387907021, rs147718607, rs397515563, rs138815960, rs587777047, rs138320978, rs587777059, rs151107532, rs201740530, rs869320683, rs587777780, rs587778819, rs397515341, rs544674332, rs771663107, rs760123202, rs876657683, rs769284314, rs200669099, rs1060503515, rs773208371, rs745993158, rs1554082275, rs751920647, rs368248592	28543983
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			ClinVar
Otitis media	Otitis Media with Effusion, Chronic otitis media			ClinVar
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Prostatic Neoplasms	Stimulate	38184689
Temple Baraitser Syndrome	Associate	27282200