AGA (aspartylglucosaminidase)

Gene

• Entrez ID: 175
• Gene name: Aspartylglucosaminidase
• Gene symbol: AGA
• Synonyms (NCBI Gene): AGU, ASRG, GA
• Disease Acronyms (UniProt): AGU
• Chromosome: 4
• Chromosome location: 4q34.3
• Summary: This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolis

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121964904	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964905	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964906	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964908	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964909	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs145465919	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs146381591	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs386833419	A>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833420	TCTC>-,TC	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833421	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833422	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833423	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833424	TGTGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833425	GTGT>-,GT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833426	T>C	Likely-pathogenic	Intron variant
rs386833427	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833428	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833430	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833431	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant, splice donor variant
rs386833432	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833433	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833434	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833435	A>-	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833436	->A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833437	C>A,T	Likely-pathogenic	Splice donor variant
rs745976989	C>T	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs748171793	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs765070743	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs794728009	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs986682657	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517175	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant, intron variant
rs1057517223	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057517329	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1201784742	A>C,G	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs1483909684	T>A,C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553993921	T>C	Likely-pathogenic	Splice acceptor variant
rs1553994755	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553994812	C>A	Likely-pathogenic	Splice donor variant
rs1553994830	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1560950739	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021212	hsa-miR-150-5p	Microarray	20218812
MIRT771553	hsa-miR-106a	CLIP-seq
MIRT771554	hsa-miR-106b	CLIP-seq
MIRT771555	hsa-miR-17	CLIP-seq
MIRT771556	hsa-miR-20a	CLIP-seq
MIRT771557	hsa-miR-20b	CLIP-seq
MIRT771558	hsa-miR-421	CLIP-seq
MIRT771559	hsa-miR-4272	CLIP-seq
MIRT771560	hsa-miR-4803	CLIP-seq
MIRT771561	hsa-miR-513a-3p	CLIP-seq
MIRT771562	hsa-miR-519d	CLIP-seq
MIRT771563	hsa-miR-93	CLIP-seq
MIRT2168469	hsa-miR-101	CLIP-seq
MIRT2168470	hsa-miR-1267	CLIP-seq
MIRT2168471	hsa-miR-1273d	CLIP-seq
MIRT2168472	hsa-miR-144	CLIP-seq
MIRT2168473	hsa-miR-2355-5p	CLIP-seq
MIRT2168474	hsa-miR-3691-3p	CLIP-seq
MIRT2168475	hsa-miR-383	CLIP-seq
MIRT2168476	hsa-miR-4282	CLIP-seq
MIRT2168477	hsa-miR-4477a	CLIP-seq
MIRT2168478	hsa-miR-4729	CLIP-seq
MIRT2168479	hsa-miR-4772-5p	CLIP-seq
MIRT2168480	hsa-miR-495	CLIP-seq
MIRT2168481	hsa-miR-582-5p	CLIP-seq
MIRT2168482	hsa-miR-597	CLIP-seq
MIRT2168483	hsa-miR-660	CLIP-seq
MIRT2168484	hsa-miR-668	CLIP-seq
MIRT2168485	hsa-miR-943	CLIP-seq
MIRT2471055	hsa-miR-1272	CLIP-seq
MIRT2471056	hsa-miR-1322	CLIP-seq
MIRT2471057	hsa-miR-193a-5p	CLIP-seq
MIRT2471058	hsa-miR-3672	CLIP-seq
MIRT2471059	hsa-miR-4468	CLIP-seq
MIRT2471060	hsa-miR-4503	CLIP-seq
MIRT2471061	hsa-miR-4517	CLIP-seq
MIRT2471062	hsa-miR-4522	CLIP-seq
MIRT2471063	hsa-miR-4693-3p	CLIP-seq
MIRT2471064	hsa-miR-4712-3p	CLIP-seq
MIRT2471065	hsa-miR-548ae	CLIP-seq
MIRT2471066	hsa-miR-548aj	CLIP-seq
MIRT2471067	hsa-miR-548am	CLIP-seq
MIRT2471068	hsa-miR-548x	CLIP-seq
MIRT2471069	hsa-miR-568	CLIP-seq
MIRT2471070	hsa-miR-643	CLIP-seq
MIRT2471071	hsa-miR-9	CLIP-seq
MIRT2471057	hsa-miR-193a-5p	CLIP-seq
MIRT2471058	hsa-miR-3672	CLIP-seq
MIRT2471062	hsa-miR-4522	CLIP-seq
MIRT2471071	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IBA	21873635
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IDA	1281977
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IMP	1904874
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	IDA	8776587
GO:0005783	Component	Endoplasmic reticulum	IDA	8776587
GO:0006508	Process	Proteolysis	IEA
GO:0006517	Process	Protein deglycosylation	IBA	21873635
GO:0006517	Process	Protein deglycosylation	IDA	1281977
GO:0006517	Process	Protein deglycosylation	IMP	1904874
GO:0008233	Function	Peptidase activity	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043621	Function	Protein self-association	IEA

Other IDs

• MIM: 613228
• HGNC: 318
• e!Ensembl: ENSG00000038002

Protein

• UniProt ID: P20933
• Protein name: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase (EC 3.5.1.26) (Aspartylglucosaminidase) (Glycosylasparaginase) (N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase) [Cleaved into: Glycosylasparaginase alpha chain; Glycosylasparaginase beta chain]
• Protein function: Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.
• PDB: 1APY, 1APZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01112	Asparaginase_2	31 → 336	Asparaginase	Domain

• Sequence:

  MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESG
  CAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLE
  HTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCG
  PYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGTSTNGIKFKIHGRVGDSPI
  PGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEF
  FGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI

• Sequence length: 346

Pathways

KEGG:

Other glycan degradation
Lysosome

Reactome:

Neutrophil degranulation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Aspartylglucosaminuria	Aspartylglucosamidase (AGA) deficiency, Aspartylglucosaminuria	rs121964904, rs121964905, rs121964906, rs121964908, rs386833417, rs386833436, rs386833418, rs386833437, rs794728009, rs121964909, rs386833419, rs386833420, rs386833421, rs386833422, rs386833423, rs386833424, rs386833425, rs386833426, rs386833427, rs386833429, rs386833430, rs386833431, rs386833432, rs386833435, rs765070743, rs1057517175, rs748171793, rs1057517329, rs745976989, rs1057517223, rs1057516565, rs1057517239, rs1057517062, rs1054938291, rs986682657, rs759063638, rs1553994812, rs764598121, rs937973897, rs1201784742, rs1553993921, rs771563230, rs1553994830, rs1483909684, rs1553994755, rs1560952256, rs1560950739, rs1736687730, rs1736861131, rs1736928101	11309371
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
Developmental regression	Developmental regression	rs1224421127
Fabry disease	Fabry Disease	rs104894827, rs104894828, rs104894829, rs104894830, rs104894831, rs1603038103, rs104894832, rs104894835, rs104894836, rs28935195, rs28935196, rs104894838, rs28935197, rs28935488, rs104894840, rs104894841, rs28935486, rs28935487, rs104894839, rs28935489, rs28935491, rs28935492, rs104894842, rs28935493, rs104894843, rs28935494, rs104894844, rs387906483, rs1603047806, rs1603038220, rs1603037764, rs1928137855, rs1603037323, rs1057519609, rs104894848, rs104894849, rs199473684, rs104894845, rs104894851, rs104894852, rs28935495, rs104894834, rs397515870, rs398123197, rs398123198, rs398123201, rs398123205, rs398123207, rs398123208, rs113173389, rs372966991, rs398123217, rs398123220, rs398123221, rs398123223, rs398123224, rs398123225, rs398123226, rs398123228, rs398123229, rs727503072, rs727503949, rs727503948, rs797044498, rs797044500, rs727504348, rs727504773, rs727505292, rs730880442, rs730880453, rs730880440, rs730880439, rs730880452, rs730880451, rs730880450, rs730880443, rs730880454, rs730880455, rs797044613, rs797044669, rs797044702, rs727504350, rs797044746, rs797044747, rs797044748, rs797044774, rs797044775, rs797044776, rs797044777, rs869312148, rs869312135, rs869312134, rs869312250, rs112341092, rs869312241, rs869312227, rs111422676, rs782509013, rs869312215, rs869312214, rs869312204, rs869312203, rs869312456, rs869312452, rs869312449, rs869312442, rs869312439, rs869312438, rs375538532, rs869312433, rs869312432, rs869312430, rs869312426, rs869312427, rs869312407, rs190347120, rs869312401, rs869312399, rs869312398, rs869312396, rs782506652, rs869312391, rs869312389, rs869312383, rs869312382, rs869312374, rs869312346, rs869312344, rs869312342, rs869312340, rs869312320, rs869312324, rs869312318, rs869312317, rs869312287, rs869312142, rs869312272, rs869312270, rs869312141, rs868966337, rs869312261, rs869312259, rs869312258, rs869312255, rs869312226, rs869312448, rs869312316, rs869312304, rs869312278, rs869312313, rs869312265, rs869025435, rs876661347, rs878853698, rs879253955, rs879254022, rs886039136, rs886041315, rs886044766, rs886044829, rs886044843, rs886044860, rs886044879, rs398123206, rs886044909, rs1057516429, rs1057521047, rs1060500747, rs1064796601, rs1064794205, rs1555984717, rs1555985827, rs1555985814, rs797044499, rs1555985002, rs1555987232, rs1555984840, rs1555985830, rs1555987175, rs1555985829, rs1555987162, rs1555985855, rs869312386, rs1555987215, rs1555985010, rs1555985091, rs1555985200, rs1555984869, rs398123212, rs797044727, rs1569306168, rs1569306036, rs1569304867, rs1569304898, rs1569306022, rs1569303213, rs398123216, rs1183869568, rs1569302697, rs1569302887, rs111812846, rs1569303030, rs1569303218, rs1569303843, rs1569304190, rs1569304221, rs1569304851, rs1569304886, rs398123199, rs1569306181, rs797044749, rs181562693, rs1603041916, rs869312158, rs1928167952, rs782197638, rs1928411447, rs1886145312
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
Neutropenia	Neutropenia	rs879253882
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	16604350
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Chronic otitis media			ClinVar
Tourette Syndrome	Tourette Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Aspartylglucosaminuria	Associate	11418116, 1477657, 1530592, 1577713, 1722323, 1840528, 1879549, 25456816, 27876883, 28457719, 29247835, 29993127, 30901125, 34831035, 36982794, 7852406, 8064811, 8457202, 9685368
Aspartylglucosaminuria	Inhibit	1722323, 28346360
Breast Neoplasms	Associate	34006291
Colorectal Neoplasms	Associate	36344807
Disease	Associate	10931138
Fabry Disease	Associate	20526001, 27471012
Genetic Diseases Inborn	Associate	30901125
Intellectual Disability	Associate	28346360
Lupus Nephritis	Associate	26509176
Lysosomal Storage Diseases	Associate	1840528
Neoplasms	Associate	34006291
Schizophrenia	Associate	16604350, 30685393