SLC6A9 (solute carrier family 6 member 9)

Gene

• Entrez ID: 6536
• Gene name: Solute carrier family 6 member 9
• Gene symbol: SLC6A9
• Synonyms (NCBI Gene): GCENSG, GLYT1
• Disease Acronyms (UniProt): GCENSG
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201267211	C>G,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs201437896	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1057519313	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519314	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1057519315	TTGAC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1553160504	AA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017329	hsa-miR-335-5p	Microarray	18185580
MIRT024167	hsa-miR-221-3p	Sequencing	20371350
MIRT025716	hsa-miR-7-5p	Sequencing	20371350
MIRT027081	hsa-miR-103a-3p	Sequencing	20371350
MIRT029053	hsa-miR-26b-5p	Microarray	19088304
MIRT561571	hsa-miR-4463	PAR-CLIP	20371350
MIRT561572	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT561570	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT561569	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT561568	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT561567	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT561566	hsa-miR-3616-3p	PAR-CLIP	20371350
MIRT025716	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT561565	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT561564	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT561563	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT561562	hsa-miR-3122	PAR-CLIP	20371350
MIRT561561	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT561560	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT561559	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT561571	hsa-miR-4463	PAR-CLIP	20371350
MIRT561572	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT561570	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT561569	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT561568	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT561567	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT561566	hsa-miR-3616-3p	PAR-CLIP	20371350
MIRT025716	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT561565	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT561564	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT561563	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT561562	hsa-miR-3122	PAR-CLIP	20371350
MIRT561561	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT561560	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT561559	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT1366669	hsa-miR-1273	CLIP-seq
MIRT1366670	hsa-miR-140-3p	CLIP-seq
MIRT1366671	hsa-miR-151-5p	CLIP-seq
MIRT1366672	hsa-miR-151b	CLIP-seq
MIRT1366673	hsa-miR-3123	CLIP-seq
MIRT1366674	hsa-miR-3689d	CLIP-seq
MIRT1366675	hsa-miR-3919	CLIP-seq
MIRT1366676	hsa-miR-4488	CLIP-seq
MIRT1366677	hsa-miR-4494	CLIP-seq
MIRT1366678	hsa-miR-4499	CLIP-seq
MIRT1366679	hsa-miR-4505	CLIP-seq
MIRT1366680	hsa-miR-4649-5p	CLIP-seq
MIRT1366681	hsa-miR-4666-3p	CLIP-seq
MIRT1366682	hsa-miR-4697-5p	CLIP-seq
MIRT1366683	hsa-miR-4724-5p	CLIP-seq
MIRT1366684	hsa-miR-4731-5p	CLIP-seq
MIRT1366685	hsa-miR-485-5p	CLIP-seq
MIRT1366686	hsa-miR-520d-5p	CLIP-seq
MIRT1366687	hsa-miR-524-5p	CLIP-seq
MIRT1366688	hsa-miR-637	CLIP-seq
MIRT1366689	hsa-miR-1203	CLIP-seq
MIRT1366690	hsa-miR-1207-5p	CLIP-seq
MIRT1366691	hsa-miR-1254	CLIP-seq
MIRT1366692	hsa-miR-1268	CLIP-seq
MIRT1366693	hsa-miR-1268b	CLIP-seq
MIRT1366669	hsa-miR-1273	CLIP-seq
MIRT1366694	hsa-miR-1294	CLIP-seq
MIRT1366695	hsa-miR-137	CLIP-seq
MIRT1366670	hsa-miR-140-3p	CLIP-seq
MIRT1366696	hsa-miR-141	CLIP-seq
MIRT1366671	hsa-miR-151-5p	CLIP-seq
MIRT1366672	hsa-miR-151b	CLIP-seq
MIRT1366697	hsa-miR-1909	CLIP-seq
MIRT1366698	hsa-miR-1915	CLIP-seq
MIRT1366699	hsa-miR-200a	CLIP-seq
MIRT1366700	hsa-miR-221	CLIP-seq
MIRT1366701	hsa-miR-222	CLIP-seq
MIRT1366702	hsa-miR-2355-5p	CLIP-seq
MIRT1366703	hsa-miR-2467-3p	CLIP-seq
MIRT1366704	hsa-miR-30a	CLIP-seq
MIRT1366705	hsa-miR-30b	CLIP-seq
MIRT1366706	hsa-miR-30c	CLIP-seq
MIRT1366707	hsa-miR-30d	CLIP-seq
MIRT1366708	hsa-miR-30e	CLIP-seq
MIRT1366709	hsa-miR-3116	CLIP-seq
MIRT1366673	hsa-miR-3123	CLIP-seq
MIRT1366710	hsa-miR-3127-3p	CLIP-seq
MIRT1366711	hsa-miR-3144-5p	CLIP-seq
MIRT1366712	hsa-miR-3159	CLIP-seq
MIRT1366713	hsa-miR-3191	CLIP-seq
MIRT1366674	hsa-miR-3689d	CLIP-seq
MIRT1366675	hsa-miR-3919	CLIP-seq
MIRT1366676	hsa-miR-4488	CLIP-seq
MIRT1366714	hsa-miR-4495	CLIP-seq
MIRT1366679	hsa-miR-4505	CLIP-seq
MIRT1366715	hsa-miR-4514	CLIP-seq
MIRT1366716	hsa-miR-455-5p	CLIP-seq
MIRT1366717	hsa-miR-4642	CLIP-seq
MIRT1366680	hsa-miR-4649-5p	CLIP-seq
MIRT1366718	hsa-miR-4652-5p	CLIP-seq
MIRT1366681	hsa-miR-4666-3p	CLIP-seq
MIRT1366719	hsa-miR-4667-5p	CLIP-seq
MIRT1366720	hsa-miR-4690-3p	CLIP-seq
MIRT1366721	hsa-miR-4692	CLIP-seq
MIRT1366682	hsa-miR-4697-5p	CLIP-seq
MIRT1366722	hsa-miR-4700-5p	CLIP-seq
MIRT1366684	hsa-miR-4731-5p	CLIP-seq
MIRT1366723	hsa-miR-4736	CLIP-seq
MIRT1366724	hsa-miR-4763-3p	CLIP-seq
MIRT1366725	hsa-miR-4797-5p	CLIP-seq
MIRT1366685	hsa-miR-485-5p	CLIP-seq
MIRT1366726	hsa-miR-486-3p	CLIP-seq
MIRT1366727	hsa-miR-548v	CLIP-seq
MIRT1366728	hsa-miR-550a	CLIP-seq
MIRT1366688	hsa-miR-637	CLIP-seq
MIRT1366729	hsa-miR-661	CLIP-seq
MIRT1366730	hsa-miR-877	CLIP-seq
MIRT1366690	hsa-miR-1207-5p	CLIP-seq
MIRT1366697	hsa-miR-1909	CLIP-seq
MIRT1366715	hsa-miR-4514	CLIP-seq
MIRT1366721	hsa-miR-4692	CLIP-seq
MIRT1366723	hsa-miR-4736	CLIP-seq
MIRT1366724	hsa-miR-4763-3p	CLIP-seq
MIRT1366726	hsa-miR-486-3p	CLIP-seq
MIRT1366711	hsa-miR-3144-5p	CLIP-seq
MIRT1366713	hsa-miR-3191	CLIP-seq
MIRT1366718	hsa-miR-4652-5p	CLIP-seq
MIRT2332405	hsa-miR-7	CLIP-seq
MIRT1366679	hsa-miR-4505	CLIP-seq
MIRT1366684	hsa-miR-4731-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005768	Component	Endosome	ISS
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	TAS	8183239
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0009925	Component	Basal plasma membrane	IDA	11159884
GO:0014069	Component	Postsynaptic density	IEA
GO:0015187	Function	Glycine transmembrane transporter activity	ISS
GO:0015187	Function	Glycine transmembrane transporter activity	TAS	11159884
GO:0015375	Function	Glycine:sodium symporter activity	TAS	8183239
GO:0015816	Process	Glycine transport	ISS
GO:0016020	Component	Membrane	TAS	8183239
GO:0016323	Component	Basolateral plasma membrane	IDA	11159884
GO:0016324	Component	Apical plasma membrane	IDA	11159884
GO:0016328	Component	Lateral plasma membrane	IDA	11159884
GO:0030285	Component	Integral component of synaptic vesicle membrane	IEA
GO:0031045	Component	Dense core granule	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0046985	Process	Positive regulation of hemoglobin biosynthetic process	ISS
GO:0070455	Process	Positive regulation of heme biosynthetic process	ISS
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0099055	Component	Integral component of postsynaptic membrane	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1903804	Process	Glycine import across plasma membrane	ISS
GO:1903804	Process	Glycine import across plasma membrane	TAS	11159884
GO:1904256	Process	Positive regulation of iron ion transmembrane transporter activity	ISS
GO:1904440	Process	Positive regulation of iron ion import across plasma membrane	ISS
GO:1904782	Process	Negative regulation of NMDA glutamate receptor activity	ISS

Other IDs

• MIM: 601019
• HGNC: 11056
• e!Ensembl: ENSG00000196517

Protein

• UniProt ID: P48067
• Protein name: Sodium- and chloride-dependent glycine transporter 1 (GlyT-1) (GlyT1) (Solute carrier family 6 member 9)
• Protein function: Sodium- and chloride-dependent glycine transporter (PubMed:8183239). Essential for regulating glycine concentrations at inhibitory glycinergic synapses. ; [Isoform GlyT-1B]: So
• PDB: 6ZBV, 6ZPL, 8WFI, 8WFJ, 8WFK, 8WFL, 9J8B, 9J8C, 9J8D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00209	SNF	100 → 635	Sodium:neurotransmitter symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: [Isoform GlyT-1A]: Expressed in the brain, kidney, pancreas, lung, placenta and liver. {ECO:0000269|PubMed:8183239}.; TISSUE SPECIFICITY: [Isoform GlyT-1B]: Expressed in the brain, kidney, pancreas, lung, placenta and liver. {ECO:00002
• Sequence:

  MSGGDTRAAIARPRMAAAHGPVAPSSPEQVTLLPVQRSFFLPPFSGATPSTSLAESVLKV
  WHGAYNSGLLPQLMAQHSLAMAQNGAVPSEATKRDQNLKRGNWGNQIEFVLTSVGYAVGL
  GNVWRFPYLCYRNGGGAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVWRISPMFKG
  VGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHDCAGVLDASNLTN
  GSRPAALPSNLSHLLNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLGVSWLV
  VFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDKILEAKV
  WGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGF
  MANHLGVDVSRVADHGPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETL
  VTAIVDEVGNEWILQKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAASFSLVVIS
  CIMCVAIMYIYGHRNYFQDIQMMLGFPPPLFFQICWRFVSPAIIFFILVFTVIQYQPITY
  NHYQYPGWAVAIGFLMALSSVLCIPLYAMFRLCRTDGDTLLQRLKNATKPSRDWGPALLE
  HRTGRYAPTIAPSPEDGFEVQPLHPDKAQIPIVGSNGSSRLQDSRI

• Sequence length: 706

Pathways

KEGG:

Synaptic vesicle cycle

Reactome:

Na+/Cl- dependent neurotransmitter transporters

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019	30610198
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
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Glycine encephalopathy	Atypical glycine encephalopathy, Infantile glycine encephalopathy	rs121964983, rs121964984, rs121964985, rs121964986, rs181134220, rs386833679, rs386833682, rs386833683, rs386833684, rs386833686, rs1057519313, rs1057519314, rs1057519315, rs781466698, rs757918826, rs866625610, rs201437896, rs773988915
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18638388, 19824767, 18400471, 20647165

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Trigonocephaly	Trigonocephaly			ClinVar
Glycine Encephalopathy	infantile glycine encephalopathy			GenCC
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Essential Hypertension	Associate	19556729
Malaria	Associate	32801995
Malaria Cerebral	Associate	32801995
Schizophrenia	Associate	18638388
Urinary Bladder Overactive	Associate	19556729
Warts	Associate	31569353