SIK3 (SIK family kinase 3)

Gene

• Entrez ID: 23387
• Gene name: SIK family kinase 3
• Gene symbol: SIK3
• Synonyms (NCBI Gene): L19, QSK, SEMDK, SIK-3
• Disease Acronyms (UniProt): SEMDK
• Chromosome: 11
• Chromosome location: 11q23.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1565460853	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039234	hsa-miR-454-3p	CLASH	23622248
MIRT707264	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707263	hsa-miR-8485	HITS-CLIP	21572407
MIRT707262	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT707261	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT707260	hsa-miR-603	HITS-CLIP	21572407
MIRT707259	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707258	hsa-miR-4643	HITS-CLIP	21572407
MIRT707257	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT707256	hsa-miR-5692b	HITS-CLIP	21572407
MIRT707255	hsa-miR-5692c	HITS-CLIP	21572407
MIRT707254	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT707253	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707252	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT707251	hsa-miR-3941	HITS-CLIP	21572407
MIRT707250	hsa-miR-466	HITS-CLIP	21572407
MIRT707249	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT707248	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT707247	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT707246	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707245	hsa-miR-6083	HITS-CLIP	21572407
MIRT639341	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT639340	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT639339	hsa-miR-4683	HITS-CLIP	23824327
MIRT639338	hsa-miR-1270	HITS-CLIP	23824327
MIRT639337	hsa-miR-620	HITS-CLIP	23824327
MIRT707264	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707263	hsa-miR-8485	HITS-CLIP	21572407
MIRT707262	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT707261	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT707260	hsa-miR-603	HITS-CLIP	21572407
MIRT707259	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707258	hsa-miR-4643	HITS-CLIP	21572407
MIRT707257	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT707256	hsa-miR-5692b	HITS-CLIP	21572407
MIRT707255	hsa-miR-5692c	HITS-CLIP	21572407
MIRT707254	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT707253	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707252	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT707251	hsa-miR-3941	HITS-CLIP	21572407
MIRT707250	hsa-miR-466	HITS-CLIP	21572407
MIRT707249	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT707248	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT707247	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT707246	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707245	hsa-miR-6083	HITS-CLIP	21572407
MIRT639341	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT639340	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT639339	hsa-miR-4683	HITS-CLIP	23824327
MIRT639338	hsa-miR-1270	HITS-CLIP	23824327
MIRT639337	hsa-miR-620	HITS-CLIP	23824327
MIRT1348990	hsa-miR-1253	CLIP-seq
MIRT1348991	hsa-miR-1909	CLIP-seq
MIRT1348992	hsa-miR-1976	CLIP-seq
MIRT1348993	hsa-miR-2052	CLIP-seq
MIRT1348994	hsa-miR-299-5p	CLIP-seq
MIRT1348995	hsa-miR-3128	CLIP-seq
MIRT1348996	hsa-miR-3613-3p	CLIP-seq
MIRT1348997	hsa-miR-3672	CLIP-seq
MIRT1348998	hsa-miR-383	CLIP-seq
MIRT1348999	hsa-miR-3907	CLIP-seq
MIRT1349000	hsa-miR-3908	CLIP-seq
MIRT1349001	hsa-miR-3919	CLIP-seq
MIRT1349002	hsa-miR-4263	CLIP-seq
MIRT1349003	hsa-miR-4318	CLIP-seq
MIRT1349004	hsa-miR-4461	CLIP-seq
MIRT1349005	hsa-miR-4470	CLIP-seq
MIRT1349006	hsa-miR-4525	CLIP-seq
MIRT1349007	hsa-miR-4534	CLIP-seq
MIRT1349008	hsa-miR-4693-5p	CLIP-seq
MIRT1349009	hsa-miR-4699-5p	CLIP-seq
MIRT1349010	hsa-miR-4709-3p	CLIP-seq
MIRT1349011	hsa-miR-4714-3p	CLIP-seq
MIRT1349012	hsa-miR-4716-3p	CLIP-seq
MIRT1349013	hsa-miR-4802-5p	CLIP-seq
MIRT1349014	hsa-miR-576-5p	CLIP-seq
MIRT1349015	hsa-miR-582-3p	CLIP-seq
MIRT1349016	hsa-miR-607	CLIP-seq
MIRT1349017	hsa-miR-629	CLIP-seq
MIRT1349018	hsa-miR-659	CLIP-seq
MIRT1349019	hsa-miR-892a	CLIP-seq
MIRT1349020	hsa-miR-9	CLIP-seq
MIRT2103427	hsa-miR-101	CLIP-seq
MIRT2103428	hsa-miR-144	CLIP-seq
MIRT2103429	hsa-miR-217	CLIP-seq
MIRT2103430	hsa-miR-668	CLIP-seq
MIRT2327691	hsa-miR-1973	CLIP-seq
MIRT2327692	hsa-miR-3605-3p	CLIP-seq
MIRT2327693	hsa-miR-4275	CLIP-seq
MIRT2327694	hsa-miR-4530	CLIP-seq
MIRT2327695	hsa-miR-513b	CLIP-seq
MIRT2327696	hsa-miR-564	CLIP-seq
MIRT2394542	hsa-miR-106a	CLIP-seq
MIRT2394543	hsa-miR-106b	CLIP-seq
MIRT2394544	hsa-miR-17	CLIP-seq
MIRT2394545	hsa-miR-20a	CLIP-seq
MIRT2394546	hsa-miR-20b	CLIP-seq
MIRT2394547	hsa-miR-3609	CLIP-seq
MIRT2394548	hsa-miR-4280	CLIP-seq
MIRT2394549	hsa-miR-450b-5p	CLIP-seq
MIRT2394550	hsa-miR-4703-3p	CLIP-seq
MIRT2394551	hsa-miR-4796-3p	CLIP-seq
MIRT2394552	hsa-miR-519d	CLIP-seq
MIRT2394553	hsa-miR-548ah	CLIP-seq
MIRT2394554	hsa-miR-93	CLIP-seq
MIRT2622747	hsa-miR-1302	CLIP-seq
MIRT2622748	hsa-miR-298	CLIP-seq
MIRT2622749	hsa-miR-3144-5p	CLIP-seq
MIRT2622750	hsa-miR-3158-5p	CLIP-seq
MIRT2622751	hsa-miR-3175	CLIP-seq
MIRT2622752	hsa-miR-3191	CLIP-seq
MIRT2622753	hsa-miR-3619-3p	CLIP-seq
MIRT2622754	hsa-miR-3688-3p	CLIP-seq
MIRT2622755	hsa-miR-4261	CLIP-seq
MIRT2622756	hsa-miR-4298	CLIP-seq
MIRT2622757	hsa-miR-4325	CLIP-seq
MIRT2622758	hsa-miR-4418	CLIP-seq
MIRT2622759	hsa-miR-4436b-5p	CLIP-seq
MIRT2622760	hsa-miR-4463	CLIP-seq
MIRT2622761	hsa-miR-4652-5p	CLIP-seq
MIRT2622762	hsa-miR-4667-5p	CLIP-seq
MIRT2622763	hsa-miR-4700-5p	CLIP-seq
MIRT2622764	hsa-miR-494	CLIP-seq
MIRT2622765	hsa-miR-509-3-5p	CLIP-seq
MIRT2622766	hsa-miR-509-5p	CLIP-seq
MIRT2622767	hsa-miR-532-3p	CLIP-seq
MIRT2622768	hsa-miR-591	CLIP-seq
MIRT2622769	hsa-miR-662	CLIP-seq
MIRT2622749	hsa-miR-3144-5p	CLIP-seq
MIRT2622751	hsa-miR-3175	CLIP-seq
MIRT2622752	hsa-miR-3191	CLIP-seq
MIRT2622753	hsa-miR-3619-3p	CLIP-seq
MIRT2622760	hsa-miR-4463	CLIP-seq
MIRT2622761	hsa-miR-4652-5p	CLIP-seq
MIRT2622762	hsa-miR-4667-5p	CLIP-seq
MIRT2622763	hsa-miR-4700-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000287	Function	Magnesium ion binding	IDA	14976552
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	14976552, 30232230
GO:0005515	Function	Protein binding	IPI	16306228, 30232230
GO:0005524	Function	ATP binding	IDA	14976552
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IDA	14976552
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0050321	Function	Tau-protein kinase activity	IBA	21873635
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:1904263	Process	Positive regulation of TORC1 signaling	IMP	30232230
GO:1904515	Process	Positive regulation of TORC2 signaling	IMP	30232230

Other IDs

• MIM: 614776
• HGNC: 29165
• e!Ensembl: ENSG00000160584

Protein

• UniProt ID: Q9Y2K2
• Protein name: Serine/threonine-protein kinase SIK3 (EC 2.7.11.1) (Salt-inducible kinase 3) (SIK-3) (Serine/threonine-protein kinase QSK)
• Protein function: Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor. Involved in the dynamic regulation of mTOR signaling in chondrocyte differentiation during skeletogenesis (PubMed:30232230). Negative
• PDB: 8OKU, 8R4O, 8R4Q, 8R4U, 8R4V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	66 → 317	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in chondrocytes. {ECO:0000269|PubMed:30232230}.
• Sequence:

  MAAAAASGAGGAAGAGTGGAGPAGRLLPPPAPGSPAAPAAVSPAAGQPRPPAPASRGPMP
  ARIGYYEIDRTIGKGNFAVVKRATHLVTKAKVAIKIIDKTQLDEENLKKIFREVQIMKML
  CHPHIIRLYQVMETERMIYLVTEYASGGEIFDHLVAHGRMAEKEARRKFKQIVTAVYFCH
  CRNIVHRDLKAENLLLDANLNIKIADFGFSNLFTPGQLLKTWCGSPPYAAPELFEGKEYD
  GPKVDIWSLGVVLYVLVCGALPFDGSTLQNLRARVLSGKFRIPFFMSTECEHLIRHMLVL
  DPNKRLSMEQICKHKWMKLGDADPNFDRLIAECQQLKEERQVDPLNEDVLLAMEDMGLDK
  EQTLQSLRSDAYDHYSAIYSLLCDRHKRHKTLRLGALPSMPRALAFQAPVNIQAEQAGTA
  MNISVPQVQLINPENQIVEPDGTLNLDSDEGEEPSPEALVRYLSMRRHTVGVADPRTEVM
  EDLQKLLPGFPGVNPQAPFLQVAPNVNFMHNLLPMQNLQPTGQLEYKEQSLLQPPTLQLL
  NGMGPLGRRASDGGANIQLHAQQLLKRPRGPSPLVTMTPAVPAVTPVDEESSDGEPDQEA
  VQSSTYKDSNTLHLPTERFSPVRRFSDGAASIQAFKAHLEKMGNNSSIKQLQQECEQLQK
  MYGGQIDERTLEKTQQQHMLYQQEQHHQILQQQIQDSICPPQPSPPLQAACENQPALLTH
  QLQRLRIQPSSPPPNHPNNHLFRQPSNSPPPMSSAMIQPHGAASSSQFQGLPSRSAIFQQ
  QPENCSSPPNVALTCLGMQQPAQSQQVTIQVQEPVDMLSNMPGTAAGSSGRGISISPSAG
  QMQMQHRTNLMATLSYGHRPLSKQLSADSAEAHSLNVNRFSPANYDQAHLHPHLFSDQSR
  GSPSSYSPSTGVGFSPTQALKVPPLDQFPTFPPSAHQQPPHYTTSALQQALLSPTPPDYT
  RHQQVPHILQGLLSPRHSLTGHSDIRLPPTEFAQLIKRQQQQRQQQQQQQQQQEYQELFR
  HMNQGDAGSLAPSLGGQSMTERQALSYQNADSYHHHTSPQHLLQIRAQECVSQASSPTPP
  HGYAHQPALMHSESMEEDCSCEGAKDGFQDSKSSSTLTKGCHDSPLLLSTGGPGDPESLL
  GTVSHAQELGIHPYGHQPTAAFSKNKVPSREPVIGNCMDRSSPGQAVELPDHNGLGYPAR
  PSVHEHHRPRALQRHHTIQNSDDAYVQLDNLPGMSLVAGKALSSARMSDAVLSQSSLMGS
  QQFQDGENEECGASLGGHEHPDLSDGSQHLNSSCYPSTCITDILLSYKHPEVSFSMEQAG
  V

• Sequence length: 1321

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	27790247
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes	Diabetes	rs80356611	27790247
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	27790247
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	30382898
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Spondyloenchondrodysplasia	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880, rs121912881, rs786200938, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723, rs397514724, rs786200943, rs747171013, rs886039542, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs769540174, rs1554022725, rs1555168505, rs1316347883, rs771866012, rs1553151294, rs1416783446, rs1565460853, rs771258750, rs1226321681, rs1294100541, rs1564532120, rs113683179, rs1597675888, rs1597675890, rs1202786652, rs377527583, rs1603225182, rs2085516391, rs934768094, rs2058757423, rs1589509307, rs771336246	22318228, 30232230

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			ClinVar
Coronary heart disease	Coronary heart disease		27790247	ClinVar
Heart failure	Heart failure		27790247	ClinVar
Autism	autism			GenCC
Hearing Loss	hearing loss disorder			GenCC
Hypothyroidism	Hypothyroidism			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome			GWAS
Dermatitis	Dermatitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	28658303, 32682817, 33545220
Carcinogenesis	Associate	32682817
Coronary Artery Disease	Associate	22664640
Drug Related Side Effects and Adverse Reactions	Inhibit	35606086
Hearing Loss Noise Induced	Associate	38212800
HEM dysplasia	Associate	30232230
Hypertriglyceridemia	Associate	39662927
Inflammation	Associate	28658303
Jansen type metaphyseal chondrodysplasia	Inhibit	30232230
Metabolic Syndrome	Associate	31170924, 38201907
Neoplasm Metastasis	Associate	28658303
Neoplasms	Associate	28658303, 32682817, 35606086