PIGW (phosphatidylinositol glycan anchor biosynthesis class W)

Gene

• Entrez ID: 284098
• Gene name: Phosphatidylinositol glycan anchor biosynthesis class W
• Gene symbol: PIGW
• Synonyms: Gwt1, HPMRS5
• Chromosome: 17
• Chromosome location: 17q12
• Summary: The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147622852	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs200024253	A>G	Pathogenic	Missense variant, coding sequence variant
rs753385776	TTTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1256773607	A>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT547112	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT547111	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT286845	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT286843	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT286847	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT286846	hsa-miR-3163	PAR-CLIP	21572407
MIRT547110	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT547109	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547107	hsa-miR-5692c	PAR-CLIP	21572407
MIRT547108	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT547106	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT547105	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT286844	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT547112	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT547111	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT286845	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT286843	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT286847	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT286846	hsa-miR-3163	PAR-CLIP	21572407
MIRT547110	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT547109	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547107	hsa-miR-5692c	PAR-CLIP	21572407
MIRT547108	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT547106	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT547105	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT286844	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT547112	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT547111	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT286845	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT286843	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT286847	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT286846	hsa-miR-3163	PAR-CLIP	21572407
MIRT547110	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT547109	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547107	hsa-miR-5692c	PAR-CLIP	21572407
MIRT547108	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT547106	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT547105	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT286844	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT547112	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT547111	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT286845	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT286843	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT286847	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT286846	hsa-miR-3163	PAR-CLIP	21572407
MIRT547110	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT547109	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547107	hsa-miR-5692c	PAR-CLIP	21572407
MIRT547108	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT547106	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT547105	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT286844	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT1233619	hsa-miR-1208	CLIP-seq
MIRT1233620	hsa-miR-141	CLIP-seq
MIRT1233621	hsa-miR-200a	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT1233623	hsa-miR-34c-3p	CLIP-seq
MIRT1233624	hsa-miR-3614-5p	CLIP-seq
MIRT1233625	hsa-miR-3672	CLIP-seq
MIRT1233626	hsa-miR-3689a-3p	CLIP-seq
MIRT1233627	hsa-miR-3689c	CLIP-seq
MIRT1233628	hsa-miR-374a	CLIP-seq
MIRT1233629	hsa-miR-374b	CLIP-seq
MIRT1233630	hsa-miR-4423-5p	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT1233632	hsa-miR-4455	CLIP-seq
MIRT1233633	hsa-miR-4659a-3p	CLIP-seq
MIRT1233634	hsa-miR-4659b-3p	CLIP-seq
MIRT1233635	hsa-miR-4694-5p	CLIP-seq
MIRT1233636	hsa-miR-4728-5p	CLIP-seq
MIRT1233637	hsa-miR-4761-5p	CLIP-seq
MIRT1233638	hsa-miR-4778-3p	CLIP-seq
MIRT1233639	hsa-miR-4786-5p	CLIP-seq
MIRT1233640	hsa-miR-584	CLIP-seq
MIRT1233641	hsa-miR-609	CLIP-seq
MIRT1233642	hsa-miR-653	CLIP-seq
MIRT1233643	hsa-miR-769-5p	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT2068768	hsa-miR-1202	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT2068769	hsa-miR-183	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2068770	hsa-miR-3194-5p	CLIP-seq
MIRT2068771	hsa-miR-3664-3p	CLIP-seq
MIRT2068772	hsa-miR-3972	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT2068773	hsa-miR-510	CLIP-seq
MIRT2068774	hsa-miR-512-5p	CLIP-seq
MIRT2068775	hsa-miR-548c-3p	CLIP-seq
MIRT2068768	hsa-miR-1202	CLIP-seq
MIRT2295828	hsa-miR-1238	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT2295829	hsa-miR-1285	CLIP-seq
MIRT2295830	hsa-miR-132	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT2068769	hsa-miR-183	CLIP-seq
MIRT2295831	hsa-miR-194	CLIP-seq
MIRT2295832	hsa-miR-212	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2295833	hsa-miR-3187-5p	CLIP-seq
MIRT2068770	hsa-miR-3194-5p	CLIP-seq
MIRT2295834	hsa-miR-323-5p	CLIP-seq
MIRT1233624	hsa-miR-3614-5p	CLIP-seq
MIRT2295835	hsa-miR-3622b-5p	CLIP-seq
MIRT2068771	hsa-miR-3664-3p	CLIP-seq
MIRT1233625	hsa-miR-3672	CLIP-seq
MIRT2295836	hsa-miR-3926	CLIP-seq
MIRT2295837	hsa-miR-3945	CLIP-seq
MIRT2068772	hsa-miR-3972	CLIP-seq
MIRT2295838	hsa-miR-4253	CLIP-seq
MIRT2295839	hsa-miR-4282	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT2295840	hsa-miR-4691-5p	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT2295841	hsa-miR-4709-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT1233639	hsa-miR-4786-5p	CLIP-seq
MIRT2295842	hsa-miR-508-5p	CLIP-seq
MIRT2068773	hsa-miR-510	CLIP-seq
MIRT2068774	hsa-miR-512-5p	CLIP-seq
MIRT2295843	hsa-miR-548s	CLIP-seq
MIRT2295844	hsa-miR-555	CLIP-seq
MIRT2295845	hsa-miR-612	CLIP-seq
MIRT2295846	hsa-miR-661	CLIP-seq
MIRT2295847	hsa-miR-766	CLIP-seq
MIRT1233643	hsa-miR-769-5p	CLIP-seq
MIRT2295848	hsa-miR-876-3p	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2295829	hsa-miR-1285	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2295833	hsa-miR-3187-5p	CLIP-seq
MIRT2456486	hsa-miR-3675-3p	CLIP-seq
MIRT2456487	hsa-miR-4684-5p	CLIP-seq
MIRT2068775	hsa-miR-548c-3p	CLIP-seq
MIRT2295845	hsa-miR-612	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2593880	hsa-miR-1228	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT2295829	hsa-miR-1285	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT2068769	hsa-miR-183	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2593881	hsa-miR-3120-5p	CLIP-seq
MIRT2593882	hsa-miR-3122	CLIP-seq
MIRT2295833	hsa-miR-3187-5p	CLIP-seq
MIRT2295834	hsa-miR-323-5p	CLIP-seq
MIRT1233623	hsa-miR-34c-3p	CLIP-seq
MIRT2593883	hsa-miR-3613-3p	CLIP-seq
MIRT1233624	hsa-miR-3614-5p	CLIP-seq
MIRT2295835	hsa-miR-3622b-5p	CLIP-seq
MIRT2593884	hsa-miR-3664-5p	CLIP-seq
MIRT1233625	hsa-miR-3672	CLIP-seq
MIRT2456486	hsa-miR-3675-3p	CLIP-seq
MIRT1233626	hsa-miR-3689a-3p	CLIP-seq
MIRT1233627	hsa-miR-3689c	CLIP-seq
MIRT2593885	hsa-miR-371-5p	CLIP-seq
MIRT2593886	hsa-miR-371b-5p	CLIP-seq
MIRT2593887	hsa-miR-3913-5p	CLIP-seq
MIRT2295836	hsa-miR-3926	CLIP-seq
MIRT2295837	hsa-miR-3945	CLIP-seq
MIRT2295838	hsa-miR-4253	CLIP-seq
MIRT2593888	hsa-miR-4432	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT1233632	hsa-miR-4455	CLIP-seq
MIRT2593889	hsa-miR-4470	CLIP-seq
MIRT2593890	hsa-miR-4522	CLIP-seq
MIRT2456487	hsa-miR-4684-5p	CLIP-seq
MIRT1233635	hsa-miR-4694-5p	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT1233636	hsa-miR-4728-5p	CLIP-seq
MIRT1233637	hsa-miR-4761-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT1233639	hsa-miR-4786-5p	CLIP-seq
MIRT2068775	hsa-miR-548c-3p	CLIP-seq
MIRT2295843	hsa-miR-548s	CLIP-seq
MIRT1233641	hsa-miR-609	CLIP-seq
MIRT2295845	hsa-miR-612	CLIP-seq
MIRT1233643	hsa-miR-769-5p	CLIP-seq
MIRT2295848	hsa-miR-876-3p	CLIP-seq
MIRT2593880	hsa-miR-1228	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT2295829	hsa-miR-1285	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT2068769	hsa-miR-183	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2593882	hsa-miR-3122	CLIP-seq
MIRT2295833	hsa-miR-3187-5p	CLIP-seq
MIRT2295834	hsa-miR-323-5p	CLIP-seq
MIRT1233623	hsa-miR-34c-3p	CLIP-seq
MIRT1233624	hsa-miR-3614-5p	CLIP-seq
MIRT2295835	hsa-miR-3622b-5p	CLIP-seq
MIRT2456486	hsa-miR-3675-3p	CLIP-seq
MIRT1233626	hsa-miR-3689a-3p	CLIP-seq
MIRT1233627	hsa-miR-3689c	CLIP-seq
MIRT2593887	hsa-miR-3913-5p	CLIP-seq
MIRT2295836	hsa-miR-3926	CLIP-seq
MIRT2295837	hsa-miR-3945	CLIP-seq
MIRT2295838	hsa-miR-4253	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT1233632	hsa-miR-4455	CLIP-seq
MIRT2593889	hsa-miR-4470	CLIP-seq
MIRT2456487	hsa-miR-4684-5p	CLIP-seq
MIRT1233635	hsa-miR-4694-5p	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT1233636	hsa-miR-4728-5p	CLIP-seq
MIRT1233637	hsa-miR-4761-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT1233639	hsa-miR-4786-5p	CLIP-seq
MIRT2068775	hsa-miR-548c-3p	CLIP-seq
MIRT2295843	hsa-miR-548s	CLIP-seq
MIRT1233641	hsa-miR-609	CLIP-seq
MIRT2295845	hsa-miR-612	CLIP-seq
MIRT1233643	hsa-miR-769-5p	CLIP-seq
MIRT2295848	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006505	Process	GPI anchor metabolic process	IC	24367057
GO:0006506	Process	GPI anchor biosynthetic process	IBA	21873635
GO:0008374	Function	O-acyltransferase activity	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016254	Process	Preassembly of GPI anchor in ER membrane	TAS
GO:0032216	Function	Glucosaminyl-phosphatidylinositol O-acyltransferase activity	IBA	21873635
GO:0072659	Process	Protein localization to plasma membrane	IBA	21873635
GO:0072659	Process	Protein localization to plasma membrane	IMP	24367057

Other IDs

• MIM: 610275
• HGNC: 23213
• e!Ensembl: ENSG00000277161

Protein

• UniProt ID: Q7Z7B1
• Protein name: Glucosaminyl-phosphatidylinositol-acyltransferase PIGW (GlcN-PI-acyltransferase) (EC 2.3.-.-) (Phosphatidylinositol-glycan biosynthesis class W protein) (PIG-W)
• Protein function: Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of glucosaminyl phosphatidylinositol (GlcN-PI) to generate glucosaminyl acyl phosphatidylinositol (GlcN-(acyl)PI) and participates in the
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06423	GWT1	301 → 463	GWT1	Family

• Sequence:

  MSEKQMKEAFVSNLNGTTVLEITQGLCFPAFCILCRGFLIIFSQYLCSFSPTWKTRFLTD
  FVVLIVPMVATLTIWASFILLELLGVIIFGAGLLYQIYRRRTCYARLPFLKILEKFLNIS
  LESEYNPAISCFRVITSAFTAIAILAVDFPLFPRRFAKTELYGTGAMDFGVGGFVFGSAM
  VCLEVRRRKYMEGSKLHYFTNSLYSVWPLVFLGIGRLAIIKSIGYQEHLTEYGVHWNFFF
  TIIVVKLITPLLLIIFPLNKSWIIALGITVLYQLALDFTSLKRLILYGTDGSGTRVGLLN
  ANREGIISTLGYVAIHMAGVQTGLYMHKNRSHIKDLIKVACFLLLAAISLFISLYVVQVN
  VEAVSRRMANLAFCIWIVASSLILLSSLLLGDIILSFAKFLIKGALVPCSWKLIQSPVTN
  KKHSESLVPEAERMEPSLCLITALNRKQLIFFLLSNITTGLINLMVDTLHSSTLWALFVV
  NLYMFSNCLIVYVLYLQDKTVQFW

• Sequence length: 504

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
Glycosylphosphatidylinositol deficiency	Glycosylphosphatidylinositol deficiency, GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11	rs1010907740, rs1554764080, rs1554764067, rs782768127, rs782220208, rs1553259614, rs1553259602, rs782615259, rs761543313, rs776038451, rs1263517814, rs1567618413, rs1567614073, rs1426262136, rs1567616570, rs1554763770, rs1600656141, rs756912205	27626616, 30078644, 24367057
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
Hypercoagulability syndrome	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	rs587776528
Hyperphosphatasia with mental retardation	Hyperphosphatasia with Mental Retardation, 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	24367057
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 name	Disease term	dbSNP ID	References
Accessory nipple	Accessory nipple
Brachycephaly	Brachycephaly
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital epicanthus	Congenital Epicanthus
Congenital pectus excavatum	Congenital pectus excavatum
Esotropia	Esotropia
High palate	Byzanthine arch palate
Hydronephrosis	Hydronephrosis
Hyperopia	Hyperopia
Macroglossia	Macroglossia
Malocclusion	Class III malocclusion
Micrognathism	Micrognathism
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Plagiocephaly	Plagiocephaly