GNPAT (glyceronephosphate O-acyltransferase)

Gene

• Entrez ID: 8443
• Gene name: Glyceronephosphate O-acyltransferase
• Gene symbol: GNPAT
• Synonyms (NCBI Gene): DAP-AT, DAPAT, DHAPAT, RCDP2
• Disease Acronyms (UniProt): RCDP2
• Chromosome: 1
• Chromosome location: 1q42.2
• Summary: This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoform

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434439	G>A	Pathogenic	Missense variant, coding sequence variant
rs121434440	C>T	Pathogenic	Missense variant, coding sequence variant
rs777894746	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1442079596	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1558334598	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558334625	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1571946866	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1571950208	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571957148	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571960363	G>A	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030370	hsa-miR-24-3p	Microarray	19748357
MIRT043262	hsa-miR-331-3p	CLASH	23622248
MIRT1025045	hsa-miR-1208	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT1025048	hsa-miR-2054	CLIP-seq
MIRT1025049	hsa-miR-2117	CLIP-seq
MIRT1025050	hsa-miR-339-5p	CLIP-seq
MIRT1025051	hsa-miR-3613-5p	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT1025053	hsa-miR-3682-5p	CLIP-seq
MIRT1025054	hsa-miR-4273	CLIP-seq
MIRT1025055	hsa-miR-4330	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT1025057	hsa-miR-4711-3p	CLIP-seq
MIRT1025058	hsa-miR-4760-3p	CLIP-seq
MIRT1025059	hsa-miR-4764-5p	CLIP-seq
MIRT1025060	hsa-miR-4789-3p	CLIP-seq
MIRT1025061	hsa-miR-4803	CLIP-seq
MIRT1025062	hsa-miR-505	CLIP-seq
MIRT1025063	hsa-miR-548n	CLIP-seq
MIRT1025064	hsa-miR-548t	CLIP-seq
MIRT1025065	hsa-miR-561	CLIP-seq
MIRT1025066	hsa-miR-593	CLIP-seq
MIRT1025067	hsa-miR-670	CLIP-seq
MIRT1025068	hsa-miR-759	CLIP-seq
MIRT1025045	hsa-miR-1208	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT2003974	hsa-miR-1265	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT1025048	hsa-miR-2054	CLIP-seq
MIRT1025049	hsa-miR-2117	CLIP-seq
MIRT1025050	hsa-miR-339-5p	CLIP-seq
MIRT2003975	hsa-miR-3605-5p	CLIP-seq
MIRT1025051	hsa-miR-3613-5p	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT1025053	hsa-miR-3682-5p	CLIP-seq
MIRT2003976	hsa-miR-4270	CLIP-seq
MIRT1025054	hsa-miR-4273	CLIP-seq
MIRT1025055	hsa-miR-4330	CLIP-seq
MIRT2003977	hsa-miR-4441	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT2003978	hsa-miR-4693-3p	CLIP-seq
MIRT1025057	hsa-miR-4711-3p	CLIP-seq
MIRT2003979	hsa-miR-4712-3p	CLIP-seq
MIRT1025059	hsa-miR-4764-5p	CLIP-seq
MIRT1025066	hsa-miR-593	CLIP-seq
MIRT1025067	hsa-miR-670	CLIP-seq
MIRT1025068	hsa-miR-759	CLIP-seq
MIRT2003974	hsa-miR-1265	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT1025050	hsa-miR-339-5p	CLIP-seq
MIRT2003975	hsa-miR-3605-5p	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT2003976	hsa-miR-4270	CLIP-seq
MIRT2003977	hsa-miR-4441	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT2003979	hsa-miR-4712-3p	CLIP-seq
MIRT1025067	hsa-miR-670	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT2465379	hsa-miR-642a	CLIP-seq
MIRT1025045	hsa-miR-1208	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT2540632	hsa-miR-2110	CLIP-seq
MIRT2540633	hsa-miR-2115	CLIP-seq
MIRT1025049	hsa-miR-2117	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT2540634	hsa-miR-3977	CLIP-seq
MIRT2003976	hsa-miR-4270	CLIP-seq
MIRT2540635	hsa-miR-4271	CLIP-seq
MIRT1025054	hsa-miR-4273	CLIP-seq
MIRT2540636	hsa-miR-4318	CLIP-seq
MIRT1025055	hsa-miR-4330	CLIP-seq
MIRT2003977	hsa-miR-4441	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT2540637	hsa-miR-4520a-5p	CLIP-seq
MIRT2540638	hsa-miR-4520b-5p	CLIP-seq
MIRT2003979	hsa-miR-4712-3p	CLIP-seq
MIRT2540639	hsa-miR-4725-3p	CLIP-seq
MIRT2540640	hsa-miR-491-5p	CLIP-seq
MIRT2540641	hsa-miR-516a-3p	CLIP-seq
MIRT2540642	hsa-miR-541	CLIP-seq
MIRT2540643	hsa-miR-548g	CLIP-seq
MIRT2540644	hsa-miR-614	CLIP-seq
MIRT2465379	hsa-miR-642a	CLIP-seq
MIRT2540645	hsa-miR-654-5p	CLIP-seq
MIRT1025068	hsa-miR-759	CLIP-seq
MIRT1025045	hsa-miR-1208	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT2540632	hsa-miR-2110	CLIP-seq
MIRT2540633	hsa-miR-2115	CLIP-seq
MIRT1025049	hsa-miR-2117	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT2540634	hsa-miR-3977	CLIP-seq
MIRT2003976	hsa-miR-4270	CLIP-seq
MIRT2540635	hsa-miR-4271	CLIP-seq
MIRT1025054	hsa-miR-4273	CLIP-seq
MIRT2540636	hsa-miR-4318	CLIP-seq
MIRT1025055	hsa-miR-4330	CLIP-seq
MIRT2003977	hsa-miR-4441	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT2540637	hsa-miR-4520a-5p	CLIP-seq
MIRT2540638	hsa-miR-4520b-5p	CLIP-seq
MIRT2003979	hsa-miR-4712-3p	CLIP-seq
MIRT2540639	hsa-miR-4725-3p	CLIP-seq
MIRT2540640	hsa-miR-491-5p	CLIP-seq
MIRT2540641	hsa-miR-516a-3p	CLIP-seq
MIRT2540642	hsa-miR-541	CLIP-seq
MIRT2540643	hsa-miR-548g	CLIP-seq
MIRT2540644	hsa-miR-614	CLIP-seq
MIRT2465379	hsa-miR-642a	CLIP-seq
MIRT2540645	hsa-miR-654-5p	CLIP-seq
MIRT1025068	hsa-miR-759	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005777	Component	Peroxisome	IDA	15687349
GO:0005777	Component	Peroxisome	NAS	9459311
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA	21873635
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0006631	Process	Fatty acid metabolic process	IBA	21873635
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0007416	Process	Synapse assembly	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0008611	Process	Ether lipid biosynthetic process	IBA	21873635
GO:0008611	Process	Ether lipid biosynthetic process	IDA	15687349
GO:0008611	Process	Ether lipid biosynthetic process	TAS
GO:0008654	Process	Phospholipid biosynthetic process	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016287	Function	Glycerone-phosphate O-acyltransferase activity	IBA	21873635
GO:0016287	Function	Glycerone-phosphate O-acyltransferase activity	IDA	8186247, 9536089, 15687349
GO:0016287	Function	Glycerone-phosphate O-acyltransferase activity	TAS
GO:0021587	Process	Cerebellum morphogenesis	IEA
GO:0030913	Process	Paranodal junction assembly	IEA
GO:0031966	Component	Mitochondrial membrane	IBA	21873635
GO:0042493	Process	Response to drug	IEA
GO:0042594	Process	Response to starvation	IEA
GO:0061024	Process	Membrane organization	IEA
GO:0070542	Process	Response to fatty acid	IEA

Other IDs

• MIM: 602744
• HGNC: 4416
• e!Ensembl: ENSG00000116906

Protein

• UniProt ID: O15228
• Protein name: Dihydroxyacetone phosphate acyltransferase (DAP-AT) (DAPAT) (DHAP-AT) (EC 2.3.1.42) (Acyl-CoA:dihydroxyacetonephosphateacyltransferase) (Glycerone-phosphate O-acyltransferase)
• Protein function: Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 p
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01553	Acyltransferase	138 → 283	Acyltransferase	Family

• Sequence:

  MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVY
  KGITPCKPIDIKCSVLNSEEIHYVIKQLSKESLQSVDVLREEVSEILDEMSHKLRLGAIR
  FCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDL
  PVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSEYVKTMLRNGYAPVEF
  FLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISISYDKILEETLYVYELLGV
  PKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLVPRYIPQKQSE
  DMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFG
  GFLIWPDNKPAEEVVPASILLHSNIASLVKDQVILKVDSGDSEVVDGLMLQHITLLMCSA
  YRNQLLNIFVRPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEFIFLPGNTLKDFEEGC
  YLLCKSEAIQVTTKDILVTEKGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQY
  LAAVRKFTSQLLDQGTSQCYDVLSSDVQKNALAACVRLGVVEKKKINNNCIFNVNEPATT
  KLEEMLGCKTPIGKPATAKL

• Sequence length: 680

Pathways

KEGG:

Glycerophospholipid metabolism
Peroxisome

Reactome:

Synthesis of PA
Plasmalogen biosynthesis
Peroxisomal protein import

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Chondrodysplasia punctata	Chondrodysplasia Punctata, Rhizomelic	rs80338714, rs398122843, rs121434599, rs121434604, rs2107055197, rs2089231699
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
Rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata, type 2, Rhizomelic chondrodysplasia punctata type 2	rs121434411, rs121434412, rs121434413, rs121434439, rs121434440, rs1558334625, rs1571950208, rs1571957148, rs1805137, rs121909151, rs121909152, rs121909153, rs63535662, rs148591292, rs121909154, rs61753238, rs61753233, rs1571955307, rs1571955597, rs1571960363, rs387907214, rs62653611, rs267608254, rs764346452, rs61753245, rs796051881, rs774131564, rs62636519, rs1057516961, rs1057516882, rs1057516737, rs267608253, rs763514968, rs62653604, rs1057517059, rs1057516827, rs1057517339, rs1057516574, rs1057516989, rs1057517257, rs778862698, rs1057516824, rs1554331461, rs1554333636, rs1554335926, rs1554328952, rs61753248, rs1554328790, rs1464766327, rs769137963, rs1554335937, rs1571946866, rs1582732852, rs1582757650, rs764924345, rs1582760004	21990100, 1405476, 11152660, 27604308, 9536089
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	16997000
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Associations from Text Mining
Disease Name	Relationship Type	References
Chondrodysplasia Punctata Rhizomelic	Inhibit	10553003
Chondrodysplasia Punctata Rhizomelic	Associate	25439727, 34110102, 8466247
Fibrosis	Associate	30145563
Hemochromatosis	Associate	27740525, 28425416, 32652459
Inflammation	Associate	23020131
Iron Overload	Associate	25605615, 27740525, 32652459
Melanoma	Associate	23020131
Zellweger Syndrome	Associate	3706414