MANBA (mannosidase beta)

Gene

• Entrez ID: 4126
• Gene name: Mannosidase beta
• Gene symbol: MANBA
• Synonyms (NCBI Gene): MANB1
• Chromosome: 4
• Chromosome location: 4q24
• Summary: This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated wi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434334	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434335	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs121434336	G>A,C	Pathogenic	Coding sequence variant, upstream transcript variant, stop gained, missense variant, genic upstream transcript variant
rs374545788	C>A	Likely-pathogenic	Splice acceptor variant
rs752343321	->TCCCAACTAA	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, inframe insertion
rs763849774	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs764364492	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771587242	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs771865668	C>T	Pathogenic	Coding sequence variant, stop gained
rs772852668	T>C	Pathogenic	Splice acceptor variant
rs775574131	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs890870104	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1188116333	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553945794	C>T	Likely-pathogenic	Upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1553948361	G>C	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017002	hsa-miR-335-5p	Microarray	18185580
MIRT1127428	hsa-miR-1224-5p	CLIP-seq
MIRT1127429	hsa-miR-1304	CLIP-seq
MIRT1127430	hsa-miR-3915	CLIP-seq
MIRT1127431	hsa-miR-4317	CLIP-seq
MIRT1127432	hsa-miR-4438	CLIP-seq
MIRT1127433	hsa-miR-4689	CLIP-seq
MIRT1127434	hsa-miR-4751	CLIP-seq
MIRT2565750	hsa-miR-1205	CLIP-seq
MIRT2565751	hsa-miR-1206	CLIP-seq
MIRT2565752	hsa-miR-1909	CLIP-seq
MIRT2565753	hsa-miR-23a	CLIP-seq
MIRT2565754	hsa-miR-23b	CLIP-seq
MIRT2565755	hsa-miR-23c	CLIP-seq
MIRT2565756	hsa-miR-3179	CLIP-seq
MIRT2565757	hsa-miR-320a	CLIP-seq
MIRT2565758	hsa-miR-320b	CLIP-seq
MIRT2565759	hsa-miR-320c	CLIP-seq
MIRT2565760	hsa-miR-320d	CLIP-seq
MIRT2565761	hsa-miR-370	CLIP-seq
MIRT2565762	hsa-miR-3918	CLIP-seq
MIRT2565763	hsa-miR-4429	CLIP-seq
MIRT2565764	hsa-miR-4529-5p	CLIP-seq
MIRT2565765	hsa-miR-578	CLIP-seq
MIRT2565766	hsa-miR-582-3p	CLIP-seq
MIRT2565767	hsa-miR-643	CLIP-seq
MIRT2565750	hsa-miR-1205	CLIP-seq
MIRT2565751	hsa-miR-1206	CLIP-seq
MIRT2565752	hsa-miR-1909	CLIP-seq
MIRT2565753	hsa-miR-23a	CLIP-seq
MIRT2565754	hsa-miR-23b	CLIP-seq
MIRT2565755	hsa-miR-23c	CLIP-seq
MIRT2565757	hsa-miR-320a	CLIP-seq
MIRT2565758	hsa-miR-320b	CLIP-seq
MIRT2565759	hsa-miR-320c	CLIP-seq
MIRT2565760	hsa-miR-320d	CLIP-seq
MIRT2565761	hsa-miR-370	CLIP-seq
MIRT2565762	hsa-miR-3918	CLIP-seq
MIRT2565763	hsa-miR-4429	CLIP-seq
MIRT2565764	hsa-miR-4529-5p	CLIP-seq
MIRT2565765	hsa-miR-578	CLIP-seq
MIRT2565766	hsa-miR-582-3p	CLIP-seq
MIRT2565767	hsa-miR-643	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004567	Function	Beta-mannosidase activity	IBA	21873635
GO:0004567	Function	Beta-mannosidase activity	IDA	30552791
GO:0004567	Function	Beta-mannosidase activity	TAS
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006464	Process	Cellular protein modification process	NAS	9384606
GO:0006516	Process	Glycoprotein catabolic process	IBA	21873635
GO:0006516	Process	Glycoprotein catabolic process	ISS
GO:0009313	Process	Oligosaccharide catabolic process	TAS
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS

Other IDs

• MIM: 609489
• HGNC: 6831
• e!Ensembl: ENSG00000109323

Protein

• UniProt ID: O00462
• Protein name: Beta-mannosidase (EC 3.2.1.25) (Lysosomal beta A mannosidase) (Mannanase) (Mannase)
• Protein function: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02836	Glyco_hydro_2_C	340 → 574	Glycosyl hydrolases family 2, TIM barrel domain	Domain
  PF17786	Mannosidase_ig	700 → 795	Mannosidase Ig/CBM-like domain	Domain
  PF17753	Ig_mannosidase	799 → 878	Ig-fold domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Detected in pancreas, kidney and placenta, ands at lower levels in liver, lung, brain, heart and muscle. {ECO:0000269|PubMed:9384606}.
• Sequence:

  MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQD
  SYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETD
  NMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNF
  VRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFD
  VVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTG
  YNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPA
  DSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACA
  LYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKD
  YVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDC
  WNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAG
  LHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLN
  DIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSV
  RVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHE
  LLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFS
  DNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY

• Sequence length: 879

Pathways

KEGG:

Other glycan degradation
Lysosome

Reactome:

Neutrophil degranulation
Lysosomal oligosaccharide catabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019	31619474
Beta-mannosidosis	beta-Mannosidosis, Beta-mannosidosis	rs890870104, rs752343321, rs1730296951, rs121434334, rs771587242, rs121434335, rs121434336, rs1188116333, rs1057517201, rs1553945794, rs374545788, rs775574131, rs1341763493, rs764364492, rs1553948361, rs142029636, rs772852668, rs771865668, rs763849774, rs760992372	30872814, 18980795, 18565776, 27604308, 12468273, 1623631, 9384606, 12890191, 22369051, 16904924, 30552791, 19728872, 17420068
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 sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	21833088

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		31619474	ClinVar
Sarcoidosis	Sarcoidosis		26051272	ClinVar, GWAS
Biliary Cholangitis	Biliary Cholangitis			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Psoriasis	Psoriasis			GWAS
Sclerosing Cholangitis	Sclerosing Cholangitis			GWAS
Biliary Cirrhosis	Biliary Cirrhosis			GWAS
Diabetes	Diabetes			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Atrial Fibrillation	Stimulate	37581400
Atrial Fibrillation	Associate	37967346
Attention Deficit Disorder with Hyperactivity	Associate	35052433
Attention Deficit Disorder with Hyperactivity	Inhibit	35306338
Autism Spectrum Disorder	Associate	37907504
beta Mannosidosis	Associate	19728872, 30886116, 32847582
beta Mannosidosis	Inhibit	19728872
Cholangitis Sclerosing	Associate	36828809
Deafness	Associate	32847582
Digestive System Diseases	Associate	30528300
Disease	Associate	30528300
Hearing Loss	Associate	30872814, 32847582
Inflammation	Associate	30872814
Intellectual Disability	Associate	30872814, 32847582
Leukoencephalopathies	Associate	19728872
Liver Cirrhosis Biliary	Associate	30528300
Lysosomal Storage Diseases	Associate	25741867
Mental Disorders	Associate	30872814
Multiple Sclerosis	Associate	23739915
Neoplastic Syndromes Hereditary	Associate	32847582
Neurologic Manifestations	Associate	19728872
Nystagmus 2 congenital autosomal dominant	Associate	25741867
Nystagmus Pathologic	Associate	25741867
Oculomotor Nerve Diseases	Associate	25741867
Sarcoidosis	Associate	26051272
X Linked Infantile Nystagmus	Associate	25741867