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

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MAN2B1 (mannosidase alpha class 2B member 1)

Gene

4125

Mannosidase alpha class 2B member 1

MAN2B1

LAMAN, MANB

19p13.13

This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 o

Show/Hide all(67)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338677	C>G	Pathogenic	Splice donor variant
rs80338678	T>C	Pathogenic	Splice acceptor variant
rs80338679	C>T	Pathogenic	Splice donor variant
rs80338680	G>A,C,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs80338681	A>G	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121434331	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs121434332	G>A	Pathogenic	Coding sequence variant, stop gained
rs121434333	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs141212446	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148108322	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200036864	C>T	Likely-pathogenic	Splice donor variant
rs200579436	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369099686	A>C,G	Likely-pathogenic	Splice donor variant
rs398123455	C>T	Pathogenic	Stop gained, coding sequence variant
rs398123456	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs398123457	A>G	Likely-pathogenic, pathogenic	Splice donor variant
rs543222535	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs561991886	C>A,T	Likely-pathogenic	Splice acceptor variant
rs572289342	->C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs748712495	A>T	Likely-pathogenic	Splice donor variant
rs748872992	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs763100457	C>A	Likely-pathogenic	Splice acceptor variant
rs763257568	G>A	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs767323371	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs768734132	C>T	Likely-pathogenic	Splice donor variant
rs771953225	C>A,T	Likely-pathogenic	Splice donor variant
rs775200333	G>A,C,T	Pathogenic-likely-pathogenic, likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs779769525	G>A	Pathogenic	Coding sequence variant, stop gained
rs781291011	G>A,C,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs786204715	C>T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs797044680	C>-,CC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs891030696	T>A	Likely-pathogenic	Splice acceptor variant
rs938576591	C>T	Likely-pathogenic	Splice acceptor variant
rs1008745697	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant
rs1057516289	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516459	TGTGGTGCGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516524	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516745	C>A	Likely-pathogenic	Splice donor variant
rs1057516864	->G	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516897	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516927	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517108	CCCTACC>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant, 5 prime UTR variant
rs1057517166	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517316	AGTGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517408	TCCGGAGCCATAGGGTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793936	T>C	Pathogenic	Splice acceptor variant
rs1322313985	C>G,T	Likely-pathogenic	Splice donor variant
rs1406466561	G>C	Pathogenic	Coding sequence variant, stop gained
rs1445197546	T>C	Pathogenic	Splice acceptor variant
rs1555705992	GT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555706137	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555706185	C>G	Likely-pathogenic	Splice acceptor variant
rs1555706596	C>G	Likely-pathogenic	Splice acceptor variant
rs1555706706	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555706752	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1555706774	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555707087	C>A,T	Likely-pathogenic	Splice donor variant
rs1555708126	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555708156	C>T	Likely-pathogenic	Splice acceptor variant
rs1555709533	C>G	Likely-pathogenic	Splice acceptor variant
rs1568307275	->AA	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1599337939	TGGCCACCAGCGTGGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599338484	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599344532	C>T	Pathogenic	Coding sequence variant, stop gained
rs1599349822	CGTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599350640	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1599352199	C>A	Likely-pathogenic	Splice acceptor variant

Show/Hide all(36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028480	hsa-miR-30a-5p	Proteomics	18668040
MIRT1127348	hsa-miR-1203	CLIP-seq
MIRT1127349	hsa-miR-1587	CLIP-seq
MIRT1127350	hsa-miR-1913	CLIP-seq
MIRT1127351	hsa-miR-3150b-3p	CLIP-seq
MIRT1127352	hsa-miR-3188	CLIP-seq
MIRT1127353	hsa-miR-324-3p	CLIP-seq
MIRT1127354	hsa-miR-346	CLIP-seq
MIRT1127355	hsa-miR-3663-5p	CLIP-seq
MIRT1127356	hsa-miR-4313	CLIP-seq
MIRT1127357	hsa-miR-432	CLIP-seq
MIRT1127358	hsa-miR-4443	CLIP-seq
MIRT1127359	hsa-miR-4459	CLIP-seq
MIRT1127360	hsa-miR-4527	CLIP-seq
MIRT1127361	hsa-miR-4674	CLIP-seq
MIRT1127362	hsa-miR-4695-5p	CLIP-seq
MIRT1127363	hsa-miR-4722-5p	CLIP-seq
MIRT1127364	hsa-miR-4784	CLIP-seq
MIRT1127365	hsa-miR-635	CLIP-seq
MIRT1127366	hsa-miR-759	CLIP-seq
MIRT1127348	hsa-miR-1203	CLIP-seq
MIRT1127349	hsa-miR-1587	CLIP-seq
MIRT1127350	hsa-miR-1913	CLIP-seq
MIRT1127352	hsa-miR-3188	CLIP-seq
MIRT1127353	hsa-miR-324-3p	CLIP-seq
MIRT1127354	hsa-miR-346	CLIP-seq
MIRT1127355	hsa-miR-3663-5p	CLIP-seq
MIRT1127356	hsa-miR-4313	CLIP-seq
MIRT1127357	hsa-miR-432	CLIP-seq
MIRT1127358	hsa-miR-4443	CLIP-seq
MIRT1127359	hsa-miR-4459	CLIP-seq
MIRT1127360	hsa-miR-4527	CLIP-seq
MIRT1127361	hsa-miR-4674	CLIP-seq
MIRT1127362	hsa-miR-4695-5p	CLIP-seq
MIRT1127363	hsa-miR-4722-5p	CLIP-seq
MIRT1127365	hsa-miR-635	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004559	Function	Alpha-mannosidase activity	IBA	21873635
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005774	Component	Vacuolar membrane	IBA	21873635
GO:0006013	Process	Mannose metabolic process	IEA
GO:0006464	Process	Cellular protein modification process	IDA	8910458
GO:0006517	Process	Protein deglycosylation	TAS	8910458
GO:0009313	Process	Oligosaccharide catabolic process	TAS
GO:0030246	Function	Carbohydrate binding	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
609458	6826	ENSG00000104774

Protein

UniProt ID

O00754

Protein name

Lysosomal alpha-mannosidase (Laman) (EC 3.2.1.24) (Lysosomal acid alpha-mannosidase) (Mannosidase alpha class 2B member 1) (Mannosidase alpha-B) [Cleaved into: Lysosomal alpha-mannosidase A peptide; Lysosomal alpha-mannosidase B peptide; Lysosomal alpha-m

Protein function

Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01074	Glyco_hydro_38N	64 → 381	Glycosyl hydrolases family 38 N-terminal domain	Domain
PF09261	Alpha-mann_mid	386 → 483	Alpha mannosidase middle domain	Domain
PF07748	Glyco_hydro_38C	607 → 823	Glycosyl hydrolases family 38 C-terminal domain	Domain
PF17677	Glyco_hydro38C2	899 → 1001	Glycosyl hydrolases family 38 C-terminal beta sandwich domain	Domain

Sequence

MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQP
NMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVE
IAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLE
DTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWR
ASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVA
TAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYL
WELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVG
LAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNAL
ARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDP
NGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRS
WSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAY
IFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIP
VGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNT
RIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRG
RHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSV
HLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQ
LREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG

Sequence length

1011

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Lysosome		Neutrophil degranulation Lysosomal oligosaccharide catabolism

Associated diseases

Show/Hide Causal Diseases (7)

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Glomerulonephritis	IGA Glomerulonephritis	rs778043831	25133636
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	9758606, 26048034, 12816222, 7307317, 22161967, 18651971
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (16)

Unknown
Disease name	Disease term	dbSNP ID	References
Alpha-mannosidosis	alpha-Mannosidosis, Alpha-mannosidosis, infantile form, Alpha-mannosidosis, adult form		9758606, 15712269, 12634058, 22161967, 20165920, 26048034, 1472354, 27604308, 9915946, 19958498, 25762455, 17979865, 11959458, 15035660, 21505070, 23613340, 9158146, 12718372
Cerebellar atrophy	Cerebellar atrophy
Cerebral atrophy	Cerebral atrophy
Congenital epicanthus	Congenital Epicanthus
Congenital pectus carinatum	Congenital pectus carinatum
Dysarthria	Dysarthria
Dysmorphic features	Dysmorphic features		22161967, 18651971, 12816222, 26048034, 7307317, 9758606
Frontal bossing	Frontal bossing
Hypertrichosis	Hypertrichosis
Macroglossia	Macroglossia
Macrotia	Macrotia
Malocclusion	Class III malocclusion
Movement disorders	Movement Disorders		12816222, 22161967, 26048034, 7307317, 9758606, 18651971
Pfaundler-hurler syndrome	Pfaundler-Hurler Syndrome
Spinocerebellar tract disease in lower limbs	Spinocerebellar tract disease in lower limbs
Spondylolisthesis	Spondylolisthesis

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