GNS (glucosamine (N-acetyl)-6-sulfatase)
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| Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2799 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Glucosamine (N-acetyl)-6-sulfatase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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GNS |
SynonymsGene synonyms aliases
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G6S |
ChromosomeChromosome number
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12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q14.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage |
SNPsSNP information provided by dbSNP.
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| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs119461974 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs119461975 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs138790252 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs483352898 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs483352899 |
->AGGAC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs483352900 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1365770233 |
G>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
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| UniProt ID |
P15586 |
| Protein name |
N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) (Glucosamine-6-sulfatase) (G6S) |
| Protein function |
Hydrolyzes 6-sulfate groups in N-acetyl-d-glucosaminide units of heparin sulfate and keratan sulfate. |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00884 |
Sulfatase |
47 → 384 |
Sulfatase |
Family |
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Sequence |
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| Sequence length |
552 |
| Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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| Associated diseases
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| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| 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 |
|
| Mucopolysaccharidosis |
Mucopolysaccharidosis III, Mucopolysaccharidosis Type IIIA, MPS III B, MPS III C, MPS III D |
rs118204435, rs118204437, rs118204438, rs118204439, rs118204441, rs118204442, rs118204448, rs118204443, rs118204444, rs118204449, rs118204446, rs118204447, rs118203939, rs118203941, rs431905493, rs431905494, rs118203942, rs118203943, rs118203944, rs431905495, rs431905496, rs121918172, rs121918173, rs121918174, rs121918177, rs121918179, rs377519272, rs121918183, rs786200863, rs121918180, rs121918181, rs121918182, rs121918184, rs121918185, rs72555360, rs72555390, rs28934274, rs72555362, rs72555391, rs72555363, rs587776525, rs72555364, rs72555366, rs72555367, rs72555372, rs72555368, rs72555392, rs587776526, rs193066451, rs483352894, rs121908282, rs121908283, rs483352895, rs483352896, rs121908286, rs104894590, rs104894591, rs104894592, rs483352897, rs104894594, rs104894595, rs104894597, rs104894598, rs118204024, rs118204025, rs104894596, rs104894601, rs34788341, rs34159654, rs119461974, rs483352898, rs119461975, rs483352899, rs483352900, rs104894635, rs104894636, rs104894641, rs104894637, rs104894638, rs104894639, rs104894640, rs104894643, rs199422227, rs104894853, rs199422228, rs104894856, rs104894860, rs113993948, rs199422229, rs104894861, rs199422230, rs483352904, rs199422231, rs113993946, rs2124007227, rs483352905, rs121965019, rs121965020, rs121965021, rs121965022, rs121965023, rs121965025, rs121965026, rs121965027, rs387906504, rs786200915, rs121965029, rs121965032, rs121965033, rs267606838, rs104894862, rs199794428, rs138504221, rs483352908, rs34901902, rs281865037, rs34946266, rs35878526, rs398123123, rs398123125, rs398123248, rs113993949, rs398123249, rs398123250, rs368454909, rs398123256, rs398123258, rs398123259, rs398123260, rs200726100, rs398123281, rs398123429, rs398123430, rs372893383, rs398123437, rs398123438, rs398123439, rs398123440, rs398124544, rs398124545, rs587779400, rs527236038, rs527236037, rs199801029, rs727503809, rs727503952, rs797044502, rs727503967, rs727504028, rs201101343, rs794726877, rs794727165, rs797044671, rs794727240, rs797044703, rs189115557, rs794727840, rs778700037, rs797044782, rs746756997, rs796052122, rs864622773, rs113993951, rs864622772, rs864622777, rs193302906, rs864622771, rs193302912, rs193302913, rs193302907, rs864622778, rs113993945, rs864622779, rs193302904, rs113993947, rs193302908, rs864622776, rs193302910, rs193302911, rs781997631, rs113993955, rs864622775, rs869025307, rs869025306, rs869025303, rs869025308, rs869025302, rs869025305, rs869025304, rs869025301, rs1557340558, rs777295041, rs762411583, rs869025584, rs764196171, rs758452450, rs747981483, rs761850746, rs370717845, rs376710410, rs148789453, rs753355844, rs770053354, rs146093755, rs143947056, rs886039894, rs886039895, rs886039914, rs144143780, rs886041370, rs121965031, rs777956287, rs199638097, rs376663785, rs886044835, rs886044837, rs886043347, rs752914124, rs886043792, rs757926581, rs781439830, rs766938111, rs753520553, rs376090795, rs374621913, rs745386663, rs779703983, rs753666460, rs1057517927, rs1057518644, rs750531880, rs1057521801, rs145798311, rs1064793027, rs1064795109, rs1085307112, rs776327443, rs1085307880, rs1085308006, rs762614315, rs1052471595, rs1555620827, rs1557339887, rs1196325597, rs1255777033, rs1554032122, rs749465732, rs1554032196, rs1554032220, rs766772376, rs1557339507, rs1553917209, rs1557338581, rs765711776, rs371886102, rs1488660868, rs1553917754, rs1554032243, rs1434169374, rs1244655820, rs991104525, rs794727896, rs772416503, rs1557340221, rs1053785648, rs1557340286, rs755710040, rs770947426, rs761607612, rs149239881, rs1028668536, rs1209154325, rs948490589, rs746776254, rs1557340403, rs148881970, rs555145190, rs745864233, rs537013895, rs1555621662, rs529855742, rs1264013707, rs755832705, rs775732598, rs1308500116, rs1557340233, rs1557340280, rs1557339927, rs759384989, rs1553607014, rs776098539, rs1230096882, rs762903007, rs1340421020, rs398123254, rs761793564, rs1249951282, rs779762183, rs746766617, rs1445719596, rs1553917428, rs192732174, rs1553917733, rs745915863, rs746936485, rs778700089, rs1553917756, rs780615798, rs794727701, rs1293215555, rs1553917044, rs762779421, rs1033313360, rs1430681871, rs994902207, rs1553917566, rs1553917192, rs1553917216, rs1214495121, rs776787370, rs750496798, rs919151683, rs756572099, rs754949360, rs991612107, rs1553917699, rs1553914737, rs1553914762, rs1553914740, rs1553914935, rs1554531744, rs775078211, rs1554537612, rs1554537807, rs1554532283, rs762402992, rs1447092074, rs1554533211, rs766835582, rs1554537613, rs1554537841, rs1554526454, rs749568919, rs747240928, rs1013345784, rs1555621448, rs1555621442, rs1431589133, rs1555621454, rs756865833, rs770684838, rs1555622019, rs1555622441, rs1555622351, rs1555622488, rs1555622545, rs1555622443, rs1555622559, rs751203469, rs1555621402, rs1555621432, rs1445294968, rs1555622002, rs1358994052, rs768918822, rs1180591588, rs781572815, rs1555622242, rs904672363, rs1424242431, rs1555620141, rs768814260, rs1555621984, rs1323958195, rs1555622354, rs200909691, rs1555621659, rs1555622533, rs1195831432, rs1555621397, rs777267343, rs764057581, rs1430122594, rs758785463, rs764134891, rs753472891, rs1555621425, rs1555621971, rs778336949, rs1555624080, rs1555622000, rs1555622250, rs1485628563, rs114625063, rs138387856, rs1250949842, rs778021009, rs1396150639, rs992677795, rs762031686, rs1555622505, rs763299645, rs1364203992, rs1555620214, rs774010006, rs1555622888, rs1555624111, rs1250300189, rs772311757, rs1174495581, rs1554069655, rs1554069660, rs1310996698, rs1251438062, rs771113472, rs1554069668, rs1554069669, rs1211360114, rs1209412483, rs769996056, rs200188234, rs555785323, rs1171277553, rs1554069786, rs1554069791, rs1554069793, rs1554069808, rs1554074118, rs771296632, rs1554074124, rs200793396, rs1554074132, rs1554074135, rs781510986, rs746396210, rs1554079265, rs1554079268, rs1554079284, rs1554079296, rs756671977, rs79970603, rs1554079302, rs1554079312, rs773492223, rs1554079318, rs1554079320, rs891298440, rs749989641, rs1408739927, rs779378413, rs147495977, rs1554086368, rs1554086370, rs1554086402, rs749015246, rs1554086414, rs1554086417, rs778868348, rs1554087395, rs1554087406, rs773460207, rs1554087423, rs1554087439, rs1554087441, rs1554087445, rs1484763838, rs1554088002, rs757061042, rs746206847, rs766914147, rs1554088079, rs1554088081, rs1554088099, rs768802200, rs1554089838, rs1554032090, rs1554032094, rs751010538, rs1554032110, rs1554032118, rs1299207831, rs1554032129, rs1554032131, rs750845916, rs1554032134, rs1554032145, rs1554032153, rs397514441, rs1554032155, rs1554032160, rs1179935748, rs1554032216, rs1554032217, rs1554032222, rs1028653411, rs1554032252, rs1559401428, rs754966840, rs756310864, rs1567538216, rs200374326, rs1557338127, rs1569560489, rs1567891258, rs1238361161, rs1567890328, rs1451709678, rs1567914459, rs1554032099, rs1567526805, rs1567893399, rs147036053, rs935464108, rs772656696, rs1569560392, rs1569560527, rs1569560528, rs1165218506, rs1369704445, rs369090960, rs1365770233, rs1599253805, rs1598738369, rs1598738720, rs1479831530, rs1598758001, rs1602725543, rs782347729, rs1602725808, rs1602740912, rs1602742620, rs1602742854, rs193302909, rs1577544451, rs748454316, rs752939204, rs1356329915, rs753767675, rs1577508778, rs1577508801, rs1167459660, rs1580121683, rs1328983959, rs1598749661, rs1598749984, rs1602734459, rs1602750400, rs4690223, rs773746427, rs1602748255, rs1264172545, rs760300454, rs1597575641, rs761725425, rs1599253815, rs1602745838, rs1602730439, rs1577541504, rs1353058781, rs774605197, rs1715086654, rs1715123409, rs931627770, rs1715188461, rs1386109118, rs1715237631, rs1220371654, rs1715290919, rs727503966, rs1355071930, rs1747989303, rs1910636198, rs1288895691, rs1422505598, rs1967935603, rs1305299665, rs2089305017, rs2089342939, rs2089378583, rs2089436271, rs750645480, rs911877265, rs1245939928, rs1557339532, rs2089306467, rs1967935882, rs1910631809, rs1910973930, rs559063128, rs1912009292, rs1478665723, rs746949976 |
27604308, 3391615, 3391615, 12624138, 12573255, 17998446, 3391615, 20232353, 27604308 |
| Sanfilippo syndrome |
Sanfilippo syndrome type D |
rs193066451, rs121908282, rs483352896, rs104894635, rs104894637, rs138504221, rs104894598, rs483352908, rs398124544, rs778700037, rs370717845, rs753355844, rs777956287, rs374621913, rs1085307880, rs1244655820, rs775078211, rs1554533211, rs747240928, rs1563366896, rs756310864, rs750645480 |
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| Septal hypertrophy |
Asymmetric Septal Hypertrophy |
rs193922390, rs397516068 |
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| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Dysarthria |
Dysarthria |
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| Dysphagia |
Deglutition Disorders |
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| Dyssomnia |
Dyssomnias |
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| Frontal bossing |
Frontal bossing |
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| Macrostomia |
Macrostomia |
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| Pfaundler-hurler syndrome |
Pfaundler-Hurler Syndrome |
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| Sleep disorders |
Sleep Disorders |
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| Synophrys |
Synophrys |
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