PIGY (phosphatidylinositol glycan anchor biosynthesis class Y)

Gene

• Entrez ID: 84992
• Gene name: Phosphatidylinositol glycan anchor biosynthesis class Y
• Gene symbol: PIGY
• Synonyms: HPMRS6, PIG-Y
• Chromosome: 4
• Chromosome location: 4q22.1
• Summary: The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1233734	hsa-miR-105	CLIP-seq
MIRT1233735	hsa-miR-1273g	CLIP-seq
MIRT1233736	hsa-miR-134	CLIP-seq
MIRT1233737	hsa-miR-137	CLIP-seq
MIRT1233738	hsa-miR-188-3p	CLIP-seq
MIRT1233739	hsa-miR-190	CLIP-seq
MIRT1233740	hsa-miR-190b	CLIP-seq
MIRT1233741	hsa-miR-1910	CLIP-seq
MIRT1233742	hsa-miR-23a	CLIP-seq
MIRT1233743	hsa-miR-23b	CLIP-seq
MIRT1233744	hsa-miR-23c	CLIP-seq
MIRT1233745	hsa-miR-299-3p	CLIP-seq
MIRT1233746	hsa-miR-3074-3p	CLIP-seq
MIRT1233747	hsa-miR-3118	CLIP-seq
MIRT1233748	hsa-miR-3121-5p	CLIP-seq
MIRT1233749	hsa-miR-3126-5p	CLIP-seq
MIRT1233750	hsa-miR-3143	CLIP-seq
MIRT1233751	hsa-miR-3164	CLIP-seq
MIRT1233752	hsa-miR-330-3p	CLIP-seq
MIRT1233753	hsa-miR-3607-5p	CLIP-seq
MIRT1233754	hsa-miR-3646	CLIP-seq
MIRT1233755	hsa-miR-3671	CLIP-seq
MIRT1233756	hsa-miR-3673	CLIP-seq
MIRT1233757	hsa-miR-4287	CLIP-seq
MIRT1233758	hsa-miR-4293	CLIP-seq
MIRT1233759	hsa-miR-4328	CLIP-seq
MIRT1233760	hsa-miR-4469	CLIP-seq
MIRT1233761	hsa-miR-4491	CLIP-seq
MIRT1233762	hsa-miR-4496	CLIP-seq
MIRT1233763	hsa-miR-4501	CLIP-seq
MIRT1233764	hsa-miR-4639-5p	CLIP-seq
MIRT1233765	hsa-miR-4657	CLIP-seq
MIRT1233766	hsa-miR-4670-3p	CLIP-seq
MIRT1233767	hsa-miR-4685-3p	CLIP-seq
MIRT1233768	hsa-miR-4704-3p	CLIP-seq
MIRT1233769	hsa-miR-4768-5p	CLIP-seq
MIRT1233770	hsa-miR-4775	CLIP-seq
MIRT1233771	hsa-miR-4787-3p	CLIP-seq
MIRT1233772	hsa-miR-4790-3p	CLIP-seq
MIRT1233773	hsa-miR-4793-5p	CLIP-seq
MIRT1233774	hsa-miR-483-3p	CLIP-seq
MIRT1233775	hsa-miR-493	CLIP-seq
MIRT1233776	hsa-miR-499-3p	CLIP-seq
MIRT1233777	hsa-miR-499a-3p	CLIP-seq
MIRT1233778	hsa-miR-505	CLIP-seq
MIRT1233779	hsa-miR-520d-5p	CLIP-seq
MIRT1233780	hsa-miR-524-5p	CLIP-seq
MIRT1233781	hsa-miR-548ag	CLIP-seq
MIRT1233782	hsa-miR-548ai	CLIP-seq
MIRT1233783	hsa-miR-586	CLIP-seq
MIRT1233784	hsa-miR-590-3p	CLIP-seq
MIRT1233785	hsa-miR-607	CLIP-seq
MIRT1233786	hsa-miR-877	CLIP-seq
MIRT1233787	hsa-miR-944	CLIP-seq
MIRT1233787	hsa-miR-944	CLIP-seq
MIRT2068816	hsa-miR-4252	CLIP-seq
MIRT1233772	hsa-miR-4790-3p	CLIP-seq
MIRT2068817	hsa-miR-892a	CLIP-seq
MIRT2295867	hsa-miR-1279	CLIP-seq
MIRT2295868	hsa-miR-3120-3p	CLIP-seq
MIRT2295869	hsa-miR-3182	CLIP-seq
MIRT1233759	hsa-miR-4328	CLIP-seq
MIRT2295870	hsa-miR-4659a-3p	CLIP-seq
MIRT2295871	hsa-miR-4659b-3p	CLIP-seq
MIRT2295872	hsa-miR-4698	CLIP-seq
MIRT2295873	hsa-miR-4762-3p	CLIP-seq
MIRT2295874	hsa-miR-889	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2432128	hsa-miR-3919	CLIP-seq
MIRT2432129	hsa-miR-3942-3p	CLIP-seq
MIRT2432130	hsa-miR-4756-3p	CLIP-seq
MIRT2295874	hsa-miR-889	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2593897	hsa-miR-1236	CLIP-seq
MIRT2295867	hsa-miR-1279	CLIP-seq
MIRT1233738	hsa-miR-188-3p	CLIP-seq
MIRT1233739	hsa-miR-190	CLIP-seq
MIRT1233740	hsa-miR-190b	CLIP-seq
MIRT1233741	hsa-miR-1910	CLIP-seq
MIRT2295868	hsa-miR-3120-3p	CLIP-seq
MIRT2593898	hsa-miR-3124-3p	CLIP-seq
MIRT1233752	hsa-miR-330-3p	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2593899	hsa-miR-3653	CLIP-seq
MIRT2593900	hsa-miR-3658	CLIP-seq
MIRT2432128	hsa-miR-3919	CLIP-seq
MIRT2432129	hsa-miR-3942-3p	CLIP-seq
MIRT2068816	hsa-miR-4252	CLIP-seq
MIRT1233758	hsa-miR-4293	CLIP-seq
MIRT2593901	hsa-miR-4436b-5p	CLIP-seq
MIRT2593902	hsa-miR-4477a	CLIP-seq
MIRT2593903	hsa-miR-4522	CLIP-seq
MIRT2593904	hsa-miR-4687-3p	CLIP-seq
MIRT2593905	hsa-miR-4715-5p	CLIP-seq
MIRT2593906	hsa-miR-4722-3p	CLIP-seq
MIRT2593907	hsa-miR-4753-3p	CLIP-seq
MIRT2432130	hsa-miR-4756-3p	CLIP-seq
MIRT1233770	hsa-miR-4775	CLIP-seq
MIRT1233771	hsa-miR-4787-3p	CLIP-seq
MIRT2593908	hsa-miR-532-3p	CLIP-seq
MIRT2593909	hsa-miR-548m	CLIP-seq
MIRT2593910	hsa-miR-556-3p	CLIP-seq
MIRT1233784	hsa-miR-590-3p	CLIP-seq
MIRT2593911	hsa-miR-647	CLIP-seq
MIRT2295874	hsa-miR-889	CLIP-seq
MIRT2068817	hsa-miR-892a	CLIP-seq
MIRT2593912	hsa-miR-942	CLIP-seq
MIRT2593897	hsa-miR-1236	CLIP-seq
MIRT2295867	hsa-miR-1279	CLIP-seq
MIRT1233738	hsa-miR-188-3p	CLIP-seq
MIRT1233739	hsa-miR-190	CLIP-seq
MIRT1233740	hsa-miR-190b	CLIP-seq
MIRT1233741	hsa-miR-1910	CLIP-seq
MIRT2295868	hsa-miR-3120-3p	CLIP-seq
MIRT2593898	hsa-miR-3124-3p	CLIP-seq
MIRT1233752	hsa-miR-330-3p	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2593899	hsa-miR-3653	CLIP-seq
MIRT2593900	hsa-miR-3658	CLIP-seq
MIRT1233756	hsa-miR-3673	CLIP-seq
MIRT2432128	hsa-miR-3919	CLIP-seq
MIRT2432129	hsa-miR-3942-3p	CLIP-seq
MIRT2068816	hsa-miR-4252	CLIP-seq
MIRT1233758	hsa-miR-4293	CLIP-seq
MIRT2593901	hsa-miR-4436b-5p	CLIP-seq
MIRT2593902	hsa-miR-4477a	CLIP-seq
MIRT2593904	hsa-miR-4687-3p	CLIP-seq
MIRT1233768	hsa-miR-4704-3p	CLIP-seq
MIRT2593905	hsa-miR-4715-5p	CLIP-seq
MIRT2593906	hsa-miR-4722-3p	CLIP-seq
MIRT2593907	hsa-miR-4753-3p	CLIP-seq
MIRT2432130	hsa-miR-4756-3p	CLIP-seq
MIRT1233770	hsa-miR-4775	CLIP-seq
MIRT1233771	hsa-miR-4787-3p	CLIP-seq
MIRT1233773	hsa-miR-4793-5p	CLIP-seq
MIRT2593908	hsa-miR-532-3p	CLIP-seq
MIRT2593909	hsa-miR-548m	CLIP-seq
MIRT2593910	hsa-miR-556-3p	CLIP-seq
MIRT1233784	hsa-miR-590-3p	CLIP-seq
MIRT2593911	hsa-miR-647	CLIP-seq
MIRT2295874	hsa-miR-889	CLIP-seq
MIRT2068817	hsa-miR-892a	CLIP-seq
MIRT2593912	hsa-miR-942	CLIP-seq
MIRT1233787	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA	21873635
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	16162815
GO:0005515	Function	Protein binding	IPI	16162815, 32296183
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16162815
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IDA	16162815
GO:0006506	Process	GPI anchor biosynthetic process	IBA	21873635
GO:0006506	Process	GPI anchor biosynthetic process	IDA	16162815
GO:0016021	Component	Integral component of membrane	IEA
GO:0016254	Process	Preassembly of GPI anchor in ER membrane	TAS
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IDA	16162815

Other IDs

• MIM: 610662
• HGNC: 28213
• e!Ensembl: ENSG00000255072

Protein

• UniProt ID: Q3MUY2
• Protein name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y (Phosphatidylinositol-glycan biosynthesis class Y protein) (PIG-Y)
• Protein function: Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynth
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15159	PIG-Y	2 → 70	Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y	Family

• Sequence:

  MFLSLPTLTVLIPLVSLAGLFYSASVEENFPQGCTSTASLCFYSLLLPITIPVYVFFHLW
  TWMGIKLFRHN

• Sequence length: 71

Pathways

KEGG:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways

Reactome:

Synthesis of glycosylphosphatidylinositol (GPI)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
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
Developmental regression	Developmental regression	rs1224421127
Glycosylphosphatidylinositol deficiency	Glycosylphosphatidylinositol deficiency	rs1010907740, rs1554764080, rs1554764067, rs782768127, rs782220208, rs1553259614, rs1553259602, rs782615259, rs761543313, rs776038451, rs1263517814, rs1567618413, rs1567614073, rs1426262136, rs1567616570, rs1554763770, rs1600656141, rs756912205	26293662
Hirschsprung disease	Hirschsprung Disease	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hyperphosphatasia with mental retardation	Hyperphosphatasia with Mental Retardation, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, Hyperphosphatasia-intellectual disability syndrome	rs139073416, rs267606951, rs267606952, rs387907023, rs142164373, rs770591449, rs368953604, rs879255232, rs774843232, rs773359554, rs587776970, rs587777251, rs587777252, rs371549948, rs587777733, rs869025322, rs869025323, rs869312813, rs869312814, rs869312817, rs200598755, rs869312816, rs869312815, rs869312812, rs202146344, rs774508288, rs144574243, rs1064795758, rs375682284, rs755750516, rs1256773607, rs1555610292, rs1242562412, rs1567871748, rs1555610241, rs759988046, rs1563996824, rs1563998317, rs751086453, rs760848629, rs1391418639, rs776720232, rs1199247059, rs763591247, rs752346360, rs1587166550, rs1247927038, rs1587176440, rs763992668, rs1587178357, rs1587159769, rs1587167234, rs1587162510, rs1590215915, rs759541820, rs1590416370, rs1590414630, rs747658866, rs1657564568, rs149690056	26293662
Mental retardation	Severe intellectual disability, Moderate intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Accessory nipple	Accessory nipple
Brachycephaly	Brachycephaly
Central visual impairment	Central visual impairment
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital epicanthus	Congenital Epicanthus
Congenital pectus excavatum	Congenital pectus excavatum
Echogenic bowel	Echogenic Bowel
Elbow flexion contracture	Flexion contracture - elbow
Esotropia	Esotropia
High palate	Byzanthine arch palate
Hip contracture	Hip Contracture
Hydronephrosis	Hydronephrosis
Hyperopia	Hyperopia
Macrostomia	Macrostomia
Malocclusion	Class III malocclusion
Micrognathism	Micrognathism
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Osteopenia	Osteopenia
Plagiocephaly	Plagiocephaly
Strabismus	Strabismus
Syndactyly of the toes	2-3 toe syndactyly