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MAN1B1 (mannosidase alpha class 1B member 1)

Gene

11253

Mannosidase alpha class 1B member 1

MAN1B1

ERMAN1, ERManI, MANA-ER, MRT15

9q34.3

This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan tri

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75442795	G>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, benign	Missense variant, non coding transcript variant, coding sequence variant
rs146417316	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs147529965	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs150942110	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs181795958	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	3 prime UTR variant, missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs200410163	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs747045738	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, synonymous variant, 3 prime UTR variant, coding sequence variant
rs794729645	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs797045688	TGAAGGATGGGAC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1164484724	C>T	Likely-pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant, non coding transcript variant, synonymous variant
rs1382373816	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1564278864	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs1564311909	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

Show/Hide all(83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023765	hsa-miR-1-3p	Proteomics	18668040
MIRT438070	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23940818
MIRT438070	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23940818
MIRT1127178	hsa-miR-1289	CLIP-seq
MIRT1127179	hsa-miR-1299	CLIP-seq
MIRT1127180	hsa-miR-187	CLIP-seq
MIRT1127181	hsa-miR-1972	CLIP-seq
MIRT1127182	hsa-miR-2467-5p	CLIP-seq
MIRT1127183	hsa-miR-3180	CLIP-seq
MIRT1127184	hsa-miR-3180-3p	CLIP-seq
MIRT1127185	hsa-miR-3182	CLIP-seq
MIRT1127186	hsa-miR-3196	CLIP-seq
MIRT1127187	hsa-miR-3198	CLIP-seq
MIRT1127188	hsa-miR-3937	CLIP-seq
MIRT1127189	hsa-miR-4294	CLIP-seq
MIRT1127190	hsa-miR-4309	CLIP-seq
MIRT1127191	hsa-miR-4313	CLIP-seq
MIRT1127192	hsa-miR-433	CLIP-seq
MIRT1127193	hsa-miR-4459	CLIP-seq
MIRT1127194	hsa-miR-4650-5p	CLIP-seq
MIRT1127195	hsa-miR-4690-3p	CLIP-seq
MIRT1127196	hsa-miR-4690-5p	CLIP-seq
MIRT1127197	hsa-miR-4706	CLIP-seq
MIRT1127198	hsa-miR-4711-3p	CLIP-seq
MIRT1127199	hsa-miR-4734	CLIP-seq
MIRT1127200	hsa-miR-4738-5p	CLIP-seq
MIRT1127201	hsa-miR-4749-5p	CLIP-seq
MIRT1127202	hsa-miR-4757-5p	CLIP-seq
MIRT1127203	hsa-miR-4782-5p	CLIP-seq
MIRT1127204	hsa-miR-516b	CLIP-seq
MIRT1127205	hsa-miR-658	CLIP-seq
MIRT1127206	hsa-miR-665	CLIP-seq
MIRT1127207	hsa-miR-744	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq
MIRT1127209	hsa-miR-766	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT1127200	hsa-miR-4738-5p	CLIP-seq
MIRT1127204	hsa-miR-516b	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127209	hsa-miR-766	CLIP-seq
MIRT2565530	hsa-miR-1250	CLIP-seq
MIRT2565531	hsa-miR-151-5p	CLIP-seq
MIRT2565532	hsa-miR-151b	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2565533	hsa-miR-296-5p	CLIP-seq
MIRT2565534	hsa-miR-3148	CLIP-seq
MIRT2565535	hsa-miR-3155	CLIP-seq
MIRT2565536	hsa-miR-3155b	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT2565537	hsa-miR-3920	CLIP-seq
MIRT2565538	hsa-miR-3978	CLIP-seq
MIRT2565539	hsa-miR-4291	CLIP-seq
MIRT2565540	hsa-miR-4422	CLIP-seq
MIRT2565541	hsa-miR-4640-5p	CLIP-seq
MIRT2565542	hsa-miR-4676-5p	CLIP-seq
MIRT2565543	hsa-miR-4726-5p	CLIP-seq
MIRT2565544	hsa-miR-4730	CLIP-seq
MIRT2565545	hsa-miR-484	CLIP-seq
MIRT2565546	hsa-miR-545	CLIP-seq
MIRT2565547	hsa-miR-575	CLIP-seq
MIRT2565548	hsa-miR-661	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq
MIRT2565549	hsa-miR-767-3p	CLIP-seq
MIRT2565550	hsa-miR-769-5p	CLIP-seq
MIRT2565531	hsa-miR-151-5p	CLIP-seq
MIRT2565532	hsa-miR-151b	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT2565537	hsa-miR-3920	CLIP-seq
MIRT2565540	hsa-miR-4422	CLIP-seq
MIRT2565541	hsa-miR-4640-5p	CLIP-seq
MIRT2565542	hsa-miR-4676-5p	CLIP-seq
MIRT2565543	hsa-miR-4726-5p	CLIP-seq
MIRT2565544	hsa-miR-4730	CLIP-seq
MIRT2565547	hsa-miR-575	CLIP-seq
MIRT2565548	hsa-miR-661	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IBA	21873635
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	10521544, 12090241, 22160784
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	18003979
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	10521544
GO:0005509	Function	Calcium ion binding	TAS	10521544
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	18003979
GO:0005783	Component	Endoplasmic reticulum	TAS	22160784
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	TAS	22160784
GO:0006486	Process	Protein glycosylation	IEA
GO:0006491	Process	N-glycan processing	IBA	21873635
GO:0009311	Process	Oligosaccharide metabolic process	TAS	10409699
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016020	Component	Membrane	IDA	18003979
GO:0016021	Component	Integral component of membrane	TAS	10521544
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IBA	21873635
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IMP	18003979
GO:0031410	Component	Cytoplasmic vesicle	IDA	25411339
GO:0036508	Process	Protein alpha-1,2-demannosylation	IDA	10521544, 22160784
GO:0036508	Process	Protein alpha-1,2-demannosylation	NAS	10521544
GO:0036509	Process	Trimming of terminal mannose on B branch	IDA	10521544
GO:0036509	Process	Trimming of terminal mannose on B branch	IMP	18003979
GO:0036509	Process	Trimming of terminal mannose on B branch	TAS
GO:0036510	Process	Trimming of terminal mannose on C branch	TAS
GO:0036511	Process	Trimming of first mannose on A branch	TAS
GO:0036512	Process	Trimming of second mannose on A branch	TAS
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IDA	18003979
GO:0044322	Component	Endoplasmic reticulum quality control compartment	TAS	21062743
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904380	Process	Endoplasmic reticulum mannose trimming	IMP	18003979
GO:1904382	Process	Mannose trimming involved in glycoprotein ERAD pathway	IMP	18003979, 21062743
GO:1904382	Process	Mannose trimming involved in glycoprotein ERAD pathway	TAS	22160784

MIM	HGNC	e!Ensembl
604346	6823	ENSG00000177239

Protein

UniProt ID

Q9UKM7

Protein name

Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113) (ER alpha-1,2-mannosidase) (ER mannosidase 1) (ERMan1) (Man9GlcNAc2-specific-processing alpha-mannosidase) (Mannosidase alpha class 1B member 1)

Protein function

Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as fo

PDB

1FMI , 1FO2 , 1FO3 , 1X9D , 5KIJ , 5KK7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01532	Glyco_hydro_47	256 → 695	Glycosyl hydrolase family 47	Domain

Sequence

MAACEGRRSGALGSSQSDFLTPPVGGAPWAVATTVVMYPPPPPPPHRDFISVTLSFGENY
DNSKSWRRRSCWRKWKQLSRLQRNMILFLLAFLLFCGLLFYINLADHWKALAFRLEEEQK
MRPEIAGLKPANPPVLPAPQKADTDPENLPEISSQKTQRHIQRGPPHLQIRPPSQDLKDG
TQEEATKRQEAPVDPRPEGDPQRTVISWRGAVIEPEQGTELPSRRAEVPTKPPLPPARTQ
GTPVHLNYRQKGVIDVFLHAWKGYRKFAWGHDELKPVSRSFSEWFGLGLTLIDALDTMWI
LGLRKEFEEARKWVSKKLHFEKDVDVNLFESTIRILGGLLSAYHLSGDSLFLRKAEDFGN
RLMPAFRTPSKIPYSDVNIGTGVAHPPRWTSDSTVAEVTSIQLEFRELSRLTGDKKFQEA
VEKVTQHIHGLSGKKDGLVPMFINTHSGLFTHLGVFTLGARADSYYEYLLKQWIQGGKQE
TQLLEDYVEAIEGVRTHLLRHSEPSKLTFVGELAHGRFSAKMDHLVCFLPGTLALGVYHG
LPASHMELAQELMETCYQMNRQMETGLSPEIVHFNLYPQPGRRDVEVKPADRHNLLRPET
VESLFYLYRVTGDRKYQDWGWEILQSFSRFTRVPSGGYSSINNVQDPQKPEPRDKMESFF
LGETLKYLFLLFSDDPNLLSLDAYVFNTEAHPLPIWTPA

Sequence length

699

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways Protein processing in endoplasmic reticulum		Defective MAN1B1 causes MRT15 ER Quality Control Compartment (ERQC)

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder, Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Cafe-au-lait spot	Cafe au lait spots, multiple	rs1057518792, rs1555613206, rs1555608663
Congenital disorder of glycosylation	MAN1B1-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322
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
Mental retardation	Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Mild Mental Retardation, Moderate intellectual disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, 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	21937992, 24348268, 27604308, 21763484, 21937992
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
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Periventricular nodular heterotopia	Periventricular Nodular Heterotopia	rs398122410, rs1557177663, rs1557179349, rs1554054827, rs1554054831, rs1554054880, rs879036238, rs1558087795, rs1558087712, rs1580027036, rs1571844539, rs1580026238, rs2046707868, rs2059194330
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Show/Hide Unknown Diseases (24)

Unknown
Disease name	Disease term	dbSNP ID	References
Absence of septum pellucidum	Absence of septum pellucidum
Camptodactyly of fingers	Clinodactyly of the 5th finger
Central visual impairment	Central visual impairment
Cerebellar hypoplasia	Cerebellar Hypoplasia
Cerebral atrophy	Cerebral atrophy
Clinodactyly	Clinodactyly
Congenital epicanthus	Congenital Epicanthus
Congenital pectus carinatum	Congenital pectus carinatum
Cortical dysplasia	Cortical Dysplasia
Dolichocephaly	Long narrow head
Dyskinetic syndrome	Dyskinetic syndrome
Dysmorphic features	Dysmorphic features		26279649, 21763484, 24566669, 24348268, 26577042
Dyssomnia	Dyssomnias
Frontal bossing	Frontal bossing
Hyperopia	Hyperopia
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Macrotia	Macrotia
Mental depression	Depressive disorder	rs587778876, rs587778877
Motor delay	Clumsiness - motor delay
Peg-shaped teeth	Peg-shaped teeth
Salaam seizures	Salaam Seizures
Sleep disorders	Sleep Disorders
Stereotyped behavior	Stereotyped Behavior
Syndactyly of the toes	2-3 toe syndactyly

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