PORCN (porcupine O-acyltransferase)

Gene

• Entrez ID: 64840
• Gene name: Porcupine O-acyltransferase
• Gene symbol: PORCN
• Synonyms (NCBI Gene): DHOF, FODH, MG61, PORC, PPN
• Disease Acronyms (UniProt): FODH
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852218	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852219	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606973	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs387906723	G>A	Pathogenic	Missense variant, coding sequence variant
rs398124617	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776737	->CCTGGCTTTTATC	Pathogenic	Frameshift variant, coding sequence variant
rs1057517951	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057519006	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524593	A>C	Pathogenic	Splice acceptor variant
rs1064795419	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307706	->TGG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1114167283	C>T	Pathogenic	Coding sequence variant, stop gained
rs1556974682	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556974804	CGGTGTCCAAGCCACTGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1556975151	T>A	Pathogenic	Splice donor variant
rs1569477854	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1602070472	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602070594	G>A	Likely-pathogenic	Splice donor variant
rs1602078393	T>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023034	hsa-miR-124-3p	Microarray	18668037
MIRT529240	hsa-miR-3650	PAR-CLIP	22012620
MIRT529239	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT529238	hsa-miR-8070	PAR-CLIP	22012620
MIRT529237	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	PAR-CLIP	22012620
MIRT529235	hsa-miR-2113	PAR-CLIP	22012620
MIRT529234	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT529233	hsa-miR-4455	PAR-CLIP	22012620
MIRT529232	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	HITS-CLIP	27418678
MIRT529235	hsa-miR-2113	HITS-CLIP	27418678
MIRT529233	hsa-miR-4455	HITS-CLIP	27418678
MIRT529234	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT529232	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT529237	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT529239	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT529240	hsa-miR-3650	PAR-CLIP	22012620
MIRT529239	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT529238	hsa-miR-8070	PAR-CLIP	22012620
MIRT529237	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	PAR-CLIP	22012620
MIRT529235	hsa-miR-2113	PAR-CLIP	22012620
MIRT529234	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT529233	hsa-miR-4455	PAR-CLIP	22012620
MIRT529232	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq
MIRT2597586	hsa-miR-1275	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2597587	hsa-miR-2392	CLIP-seq
MIRT2597588	hsa-miR-3147	CLIP-seq
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT2597589	hsa-miR-4425	CLIP-seq
MIRT2597590	hsa-miR-4534	CLIP-seq
MIRT2597591	hsa-miR-4665-5p	CLIP-seq
MIRT2597592	hsa-miR-4802-5p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq
MIRT2597586	hsa-miR-1275	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2597587	hsa-miR-2392	CLIP-seq
MIRT2597588	hsa-miR-3147	CLIP-seq
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT2597589	hsa-miR-4425	CLIP-seq
MIRT2597590	hsa-miR-4534	CLIP-seq
MIRT2597591	hsa-miR-4665-5p	CLIP-seq
MIRT2597592	hsa-miR-4802-5p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006497	Process	Protein lipidation	ISS
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0016020	Component	Membrane	IBA	21873635
GO:0016055	Process	Wnt signaling pathway	ISS
GO:0016746	Function	Transferase activity, transferring acyl groups	IBA	21873635
GO:0017147	Function	Wnt-protein binding	IBA	21873635
GO:0018345	Process	Protein palmitoylation	IBA	21873635
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IEA
GO:0030258	Process	Lipid modification	IBA	21873635
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0045234	Process	Protein palmitoleylation	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IBA	21873635
GO:0061355	Process	Wnt protein secretion	IBA	21873635
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:1990698	Function	Palmitoleoyltransferase activity	IBA	21873635
GO:1990698	Function	Palmitoleoyltransferase activity	ISS

Other IDs

• MIM: 300651
• HGNC: 17652
• e!Ensembl: ENSG00000102312

Protein

• UniProt ID: Q9H237
• Protein name: Protein-serine O-palmitoleoyltransferase porcupine (EC 2.3.1.250) (Protein MG61)
• Protein function: Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1(9Z)), to Wnt proteins. Serine palmitoleoylation of WNT
• PDB: 7URA, 7URC, 7URD, 7URE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03062	MBOAT	60 → 371	MBOAT, membrane-bound O-acyltransferase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in fetal brain, brain, amygdala, caudate nucleus, cerebellum, hippocampus, pituitary, thalamus, heart, skeletal muscle and testis. Isoform 4 is expressed in amygdala, corpus callosum, hippocampus, spinal cord, ki
• Sequence:

  MATFSRQEFFQQLLQGCLLPTAQQGLDQIWLLLAICLACRLLWRLGLPSYLKHASTVAGG
  FFSLYHFFQLHMVWVVLLSLLCYLVLFLCRHSSHRGVFLSVTILIYLLMGEMHMVDTVTW
  HKMRGAQMIVAMKAVSLGFDLDRGEVGTVPSPVEFMGYLYFVGTIVFGPWISFHSYLQAV
  QGRPLSCRWLQKVARSLALALLCLVLSTCVGPYLFPYFIPLNGDRLLRNKKRKARGTMVR
  WLRAYESAVSFHFSNYFVGFLSEATATLAGAGFTEEKDHLEWDLTVSKPLNVELPRSMVE
  VVTSWNLPMSYWLNNYVFKNALRLGTFSAVLVTYAASALLHGFSFHLAAVLLSLAFITYV
  EHVLRKRLARILSACVLSKRCPPDCSHQHRLGLGVRALNLLFGALAIFHLAYLGSLFDVD
  VDDTTEEQGYGMAYTVHKWSELSWASHWVTFGCWIFYRLIG

• Sequence length: 461

Pathways

KEGG:

Wnt signaling pathway

Reactome:

WNT ligand secretion is abrogated by the PORCN inhibitor LGK974

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Ectopia lentis	Ectopia Lentis	rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Focal dermal hypoplasia	Focal Dermal Hypoplasia, Focal dermal hypoplasia	rs587776737, rs267606973, rs137852218, rs137852219, rs1114167283, rs1057519006, rs1556975151, rs1602085557, rs2061661896, rs1602070472, rs1602070594	18325042, 19586929, 17546031, 17546030, 19863546, 19309688, 13948891, 21472892, 19277062
Hearing loss	Hearing Loss, Mixed Conductive-Sensorineural	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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hyperthyroxinemia, dysalbuminemic	Hyperthyroxinemia, Familial Dysalbuminemic	rs75002628, rs77892378	17546030
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Mental retardation	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
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Oligodontia	Oligodontia	rs1591901585
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	19863546
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Microphthalmia With Coloboma	microphthalmia, isolated, with coloboma			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Renal Cell	Associate	32104684
Developmental Disabilities	Associate	35101074
Drug Resistant Epilepsy	Associate	35101074
Focal Dermal Hypoplasia	Associate	19277062, 24698628, 25026905, 25040319, 25464842, 30693654, 33557041, 35101074, 36313953, 37859990
Gliosis	Associate	35101074
Kidney Neoplasms	Associate	32104684
Microcephaly	Associate	35101074
Microphthalmos	Associate	25026905
Multiple Sclerosis	Associate	35905688
Nakamura Osame syndrome	Associate	35101074
Neoplasm Metastasis	Associate	32307642
Neoplasms	Inhibit	35040131
Neoplasms	Associate	37859990
Pancreatic Neoplasms	Associate	35536676
Skin Abnormalities	Associate	35101074
Thyroid Neoplasms	Associate	37859990