PIGV (phosphatidylinositol glycan anchor biosynthesis class V)

Gene

• Entrez ID: 55650
• Gene name: Phosphatidylinositol glycan anchor biosynthesis class V
• Gene symbol: PIGV
• Synonyms (NCBI Gene): GPI-MT-II, HPMRS1, PIG-V
• Disease Acronyms (UniProt): HPMRS1
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139073416	C>A,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs142192097	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs146969255	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs148662665	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, intron variant
rs267606951	A>C,G	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs267606952	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs376328153	C>A	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs387907023	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs759988046	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs766452597	A>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs774605091	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1418108487	->A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT535230	hsa-miR-552-3p	PAR-CLIP	22012620
MIRT535229	hsa-miR-3159	PAR-CLIP	22012620
MIRT535227	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT535228	hsa-miR-4740-3p	PAR-CLIP	22012620
MIRT535226	hsa-miR-6778-3p	PAR-CLIP	22012620
MIRT535225	hsa-miR-5095	PAR-CLIP	22012620
MIRT535224	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT535230	hsa-miR-552-3p	PAR-CLIP	22012620
MIRT535229	hsa-miR-3159	PAR-CLIP	22012620
MIRT535227	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT535228	hsa-miR-4740-3p	PAR-CLIP	22012620
MIRT535226	hsa-miR-6778-3p	PAR-CLIP	22012620
MIRT535225	hsa-miR-5095	PAR-CLIP	22012620
MIRT535224	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT1233605	hsa-miR-3157-3p	CLIP-seq
MIRT1233606	hsa-miR-4282	CLIP-seq
MIRT1233607	hsa-miR-4676-5p	CLIP-seq
MIRT1233608	hsa-miR-575	CLIP-seq
MIRT1233609	hsa-miR-874	CLIP-seq
MIRT1233610	hsa-miR-1827	CLIP-seq
MIRT1233611	hsa-miR-1915	CLIP-seq
MIRT1233612	hsa-miR-2467-3p	CLIP-seq
MIRT1233613	hsa-miR-2682	CLIP-seq
MIRT1233614	hsa-miR-4436b-3p	CLIP-seq
MIRT1233615	hsa-miR-449c	CLIP-seq
MIRT1233616	hsa-miR-4685-5p	CLIP-seq
MIRT1233617	hsa-miR-4726-3p	CLIP-seq
MIRT1233618	hsa-miR-922	CLIP-seq
MIRT2068757	hsa-miR-150	CLIP-seq
MIRT1233610	hsa-miR-1827	CLIP-seq
MIRT1233611	hsa-miR-1915	CLIP-seq
MIRT1233612	hsa-miR-2467-3p	CLIP-seq
MIRT1233613	hsa-miR-2682	CLIP-seq
MIRT2068758	hsa-miR-3117-5p	CLIP-seq
MIRT2068759	hsa-miR-365	CLIP-seq
MIRT2068760	hsa-miR-374a	CLIP-seq
MIRT2068761	hsa-miR-374b	CLIP-seq
MIRT2068762	hsa-miR-3942-3p	CLIP-seq
MIRT2068763	hsa-miR-4311	CLIP-seq
MIRT1233614	hsa-miR-4436b-3p	CLIP-seq
MIRT1233615	hsa-miR-449c	CLIP-seq
MIRT1233616	hsa-miR-4685-5p	CLIP-seq
MIRT2068764	hsa-miR-4713-5p	CLIP-seq
MIRT1233617	hsa-miR-4726-3p	CLIP-seq
MIRT2068765	hsa-miR-532-3p	CLIP-seq
MIRT2068766	hsa-miR-532-5p	CLIP-seq
MIRT2068767	hsa-miR-634	CLIP-seq
MIRT1233618	hsa-miR-922	CLIP-seq
MIRT2392512	hsa-miR-1200	CLIP-seq
MIRT2392513	hsa-miR-1251	CLIP-seq
MIRT2068757	hsa-miR-150	CLIP-seq
MIRT2068758	hsa-miR-3117-5p	CLIP-seq
MIRT2392514	hsa-miR-3660	CLIP-seq
MIRT2392515	hsa-miR-4526	CLIP-seq
MIRT2068764	hsa-miR-4713-5p	CLIP-seq
MIRT2068765	hsa-miR-532-3p	CLIP-seq
MIRT2392512	hsa-miR-1200	CLIP-seq
MIRT2593867	hsa-miR-1208	CLIP-seq
MIRT2068757	hsa-miR-150	CLIP-seq
MIRT2593868	hsa-miR-151-3p	CLIP-seq
MIRT1233610	hsa-miR-1827	CLIP-seq
MIRT1233611	hsa-miR-1915	CLIP-seq
MIRT2593869	hsa-miR-1972	CLIP-seq
MIRT1233612	hsa-miR-2467-3p	CLIP-seq
MIRT1233613	hsa-miR-2682	CLIP-seq
MIRT2068758	hsa-miR-3117-5p	CLIP-seq
MIRT2593870	hsa-miR-3673	CLIP-seq
MIRT2068760	hsa-miR-374a	CLIP-seq
MIRT2068761	hsa-miR-374b	CLIP-seq
MIRT2593871	hsa-miR-3934	CLIP-seq
MIRT2593872	hsa-miR-412	CLIP-seq
MIRT2593873	hsa-miR-4252	CLIP-seq
MIRT2593874	hsa-miR-4305	CLIP-seq
MIRT2068763	hsa-miR-4311	CLIP-seq
MIRT1233614	hsa-miR-4436b-3p	CLIP-seq
MIRT1233615	hsa-miR-449c	CLIP-seq
MIRT2593875	hsa-miR-4650-5p	CLIP-seq
MIRT1233616	hsa-miR-4685-5p	CLIP-seq
MIRT2068764	hsa-miR-4713-5p	CLIP-seq
MIRT1233617	hsa-miR-4726-3p	CLIP-seq
MIRT2593876	hsa-miR-4781-3p	CLIP-seq
MIRT2068765	hsa-miR-532-3p	CLIP-seq
MIRT2593877	hsa-miR-593	CLIP-seq
MIRT2593878	hsa-miR-607	CLIP-seq
MIRT2593879	hsa-miR-890	CLIP-seq
MIRT1233618	hsa-miR-922	CLIP-seq
MIRT2392512	hsa-miR-1200	CLIP-seq
MIRT2593867	hsa-miR-1208	CLIP-seq
MIRT2687881	hsa-miR-1269	CLIP-seq
MIRT2687882	hsa-miR-1269b	CLIP-seq
MIRT2687883	hsa-miR-1288	CLIP-seq
MIRT2687884	hsa-miR-147	CLIP-seq
MIRT2068757	hsa-miR-150	CLIP-seq
MIRT2593868	hsa-miR-151-3p	CLIP-seq
MIRT1233610	hsa-miR-1827	CLIP-seq
MIRT1233611	hsa-miR-1915	CLIP-seq
MIRT2593869	hsa-miR-1972	CLIP-seq
MIRT1233612	hsa-miR-2467-3p	CLIP-seq
MIRT1233613	hsa-miR-2682	CLIP-seq
MIRT2068758	hsa-miR-3117-5p	CLIP-seq
MIRT2687885	hsa-miR-3138	CLIP-seq
MIRT2068759	hsa-miR-365	CLIP-seq
MIRT2593870	hsa-miR-3673	CLIP-seq
MIRT2068760	hsa-miR-374a	CLIP-seq
MIRT2068761	hsa-miR-374b	CLIP-seq
MIRT2687886	hsa-miR-3911	CLIP-seq
MIRT2687887	hsa-miR-3919	CLIP-seq
MIRT2593871	hsa-miR-3934	CLIP-seq
MIRT2593872	hsa-miR-412	CLIP-seq
MIRT2593873	hsa-miR-4252	CLIP-seq
MIRT2593874	hsa-miR-4305	CLIP-seq
MIRT2068763	hsa-miR-4311	CLIP-seq
MIRT1233614	hsa-miR-4436b-3p	CLIP-seq
MIRT1233615	hsa-miR-449c	CLIP-seq
MIRT2687888	hsa-miR-4515	CLIP-seq
MIRT2593875	hsa-miR-4650-5p	CLIP-seq
MIRT1233616	hsa-miR-4685-5p	CLIP-seq
MIRT2068764	hsa-miR-4713-5p	CLIP-seq
MIRT1233617	hsa-miR-4726-3p	CLIP-seq
MIRT2687889	hsa-miR-4740-5p	CLIP-seq
MIRT2593876	hsa-miR-4781-3p	CLIP-seq
MIRT2687890	hsa-miR-4797-5p	CLIP-seq
MIRT2687891	hsa-miR-4800-5p	CLIP-seq
MIRT2068765	hsa-miR-532-3p	CLIP-seq
MIRT2068766	hsa-miR-532-5p	CLIP-seq
MIRT2687892	hsa-miR-581	CLIP-seq
MIRT2593877	hsa-miR-593	CLIP-seq
MIRT2687893	hsa-miR-600	CLIP-seq
MIRT2593878	hsa-miR-607	CLIP-seq
MIRT2068767	hsa-miR-634	CLIP-seq
MIRT2687894	hsa-miR-644	CLIP-seq
MIRT2593879	hsa-miR-890	CLIP-seq
MIRT1233618	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000009	Function	Alpha-1,6-mannosyltransferase activity	IEA
GO:0000030	Function	Mannosyltransferase activity	IBA	21873635
GO:0000030	Function	Mannosyltransferase activity	IGI	15623507, 15720390
GO:0000030	Function	Mannosyltransferase activity	IMP	15623507
GO:0004376	Function	Glycolipid mannosyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15623507
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA	21873635
GO:0006506	Process	GPI anchor biosynthetic process	IGI	15623507, 15720390
GO:0006506	Process	GPI anchor biosynthetic process	IMP	15623507
GO:0016021	Component	Integral component of membrane	NAS	15623507
GO:0016254	Process	Preassembly of GPI anchor in ER membrane	TAS
GO:0031501	Component	Mannosyltransferase complex	IBA	21873635
GO:0097502	Process	Mannosylation	IEA

Other IDs

• MIM: 610274
• HGNC: 26031
• e!Ensembl: ENSG00000060642

Protein

• UniProt ID: Q9NUD9
• Protein name: GPI alpha-1,6-mannosyltransferase 2 (EC 2.4.1.-) (GPI mannosyltransferase II) (GPI-MT-II) (Phosphatidylinositol-glycan biosynthesis class V protein) (PIG-V)
• Protein function: Alpha-1,6-mannosyltransferase that catalyzes the transfer of the second mannose, via an alpha-1,6 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to the alpha-D-Man-(1->4)-alpha-D-GlcN-(1->6)-(1-radyl,2-acyl-sn-glycero-3-phospho)-2-acyl-inos
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04188	Mannosyl_trans2	8 → 493	Mannosyltransferase (PIG-V)	Family

• Sequence:

  MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLL
  GGLSHWDAEHFLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVA
  SLNFLFFMLAAVALHDLGCLVLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSA
  MGQLERGRVWTSVLLFAFATGVRSNGLVSVGFLMHSQCQGFFSSLTMLNPLRQLFKLMAS
  LFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLAVDKGYRIAEGNEPPWCFWDV
  PLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHPWLCLTLGLQR
  SKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHL
  LQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWL
  LGLLLHCNFLPWT

• Sequence length: 493

Pathways

KEGG:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways

Reactome:

Synthesis of glycosylphosphatidylinositol (GPI)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049
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
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, 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 1, 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	24129430, 21739589, 20802478, 22228761, 22315194, 27604308
Mental retardation	Severe intellectual disability, Moderate intellectual disability, 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
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 term	Disease name	Evidence	References	Source
Hyperphosphatasia With Mental Retardation	hyperphosphatasia with intellectual disability syndrome 1, hyperphosphatasia-intellectual disability syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Anorectal Malformations	Associate	24129430
Berk Tabatznik syndrome	Associate	24129430
Capillary Malformation Arteriovenous Malformation	Associate	24129430, 29310717
Developmental Disabilities	Associate	24129430
Hernias Diaphragmatic Congenital	Associate	29310717
Hirschsprung Disease	Associate	24129430, 29310717
Hyperostosis corticalis deformans juvenilis	Associate	22683086, 24129430, 30813920
Hyperphosphatasia with Mental Retardation	Associate	22683086, 24129430, 24417746, 30813920
Hypertension	Associate	32410228
Intellectual Disability	Associate	23561847, 24129430, 30813920
Muscle Hypotonia	Associate	23561847
Orofaciodigital syndrome 11	Associate	24129430
Papillorenal syndrome	Associate	24129430
Seizures	Associate	23561847