GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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AGA (aspartylglucosaminidase)

Gene

175

Aspartylglucosaminidase

AGA

AGU, ASRG, GA

4q34.3

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

Show/Hide all(40)

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

Show/Hide all(50)

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

Show/Hide all(18)

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

MIM	HGNC	e!Ensembl
613228	318	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

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Lysosome		Neutrophil degranulation

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	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	rs74315508, rs74315509, rs13447324, rs1558507406, 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

Show/Hide Unknown Diseases (20)

Unknown
Disease name	Disease term	dbSNP ID	References
Acne	Acne
Brachycephaly	Brachycephaly
Cerebral atrophy	Cerebral atrophy
Congenital exomphalos	Congenital exomphalos
Congenital pectus carinatum	Congenital pectus carinatum
Dwarfism	Dwarfism
Dyskinetic syndrome	Dyskinetic syndrome
Dyssomnia	Dyssomnias
Macroglossia	Macroglossia
Macrostomia	Macrostomia
Malabsorption syndrome	Malabsorption Syndrome
Malocclusion	Class III malocclusion
Microtia	Congenital small ears
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Pfaundler-hurler syndrome	Pfaundler-Hurler Syndrome
Skin diseases, vascular	Skin Diseases, Vascular
Sleep disorders	Sleep Disorders
Speech disorders	Speech Disorders
Spondylolisthesis	Spondylolisthesis
Spondylolysis	Spondylolysis

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