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KCNJ13 (potassium inwardly rectifying channel subfamily J member 13)
Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3769
Gene nameGene Name - the full gene name approved by the HGNC.
Potassium inwardly rectifying channel subfamily J member 13
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KCNJ13
SynonymsGene synonyms aliases
KIR1.4, KIR7.1, LCA16, SVD
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT628064 hsa-miR-7977 HITS-CLIP 23824327
MIRT628065 hsa-miR-431-5p HITS-CLIP 23824327
MIRT628066 hsa-miR-4635 HITS-CLIP 23824327
MIRT628067 hsa-miR-302a-5p HITS-CLIP 23824327
MIRT628068 hsa-miR-4267 HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity IBA 21873635
GO:0005242 Function Inward rectifier potassium channel activity NAS 9738472
GO:0005886 Component Plasma membrane IBA 21873635
GO:0006813 Process Potassium ion transport NAS 9738472
GO:0016021 Component Integral component of membrane IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60928
Protein name Inward rectifier potassium channel 13 (Inward rectifier K(+) channel Kir7.1) (Potassium channel, inwardly rectifying subfamily J member 13)
Protein function Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01007 IRK
21 → 163
Inward rectifier potassium channel transmembrane domain
 Domain
PF17655 IRK_C
170 → 338
Inward rectifier potassium channel C-terminal domain
 Domain
Sequence
Sequence length 360
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Protein digestion and absorption  
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs-1, 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
Leber congenital amaurosis Leber Congenital Amaurosis, LEBER CONGENITAL AMAUROSIS 16, Leber congenital amaurosis rs386834252, rs386834253, rs121918165, rs-1, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs80044281, rs386834241, rs75895925, rs386834243, rs750962965, rs28940313, rs386834261, rs104894470, rs28940314, rs104894471, rs104894474, rs104894475, rs104894476, rs28940315, rs104894472, rs104894473, rs387906272, rs121434337, rs202126574, rs137853124, rs397515360, rs1560870755, rs62637014, rs62637016, rs62635656, rs62635654, rs28939720, rs62635659, rs137853136, rs137853137, rs62636275, rs281865175, rs62638214, rs121908449, rs121909074, rs121909075, rs1581734819, rs104894673, rs61750420, rs61749755, rs61750172, rs61752895, rs61752871, rs121917744, rs61752909, rs121917745, rs386834260, rs121912554, rs781781440, rs62653011, rs61752904, rs62636300, rs387906835, rs387906836, rs387906837, rs2147483647, rs387906858, rs143607153, rs387907009, rs140287375, rs387907290, rs142968179, rs150726175, rs387907291, rs368062092, rs387907293, rs387907294, rs62645748, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1401531865, rs386834239, rs61748449, rs62637010, rs142326926, rs267598278, rs398124354, rs61749676, rs61749679, rs61749683, rs63749078, rs61749758, rs61749759, rs61750161, rs281865410, rs61750168, rs61750179, rs61750183, rs61750184, rs61750185, rs61750187, rs281865408, rs61750188, rs61750189, rs281865411, rs61749668, rs61750194, rs63340060, rs61749670, rs281865409, rs63749076, rs61749671, rs61749663, rs61749673, rs61749674, rs281865520, rs61751276, rs61751281, rs62636295, rs62636298, rs62636299, rs61751282, rs61752865, rs62637006, rs62637007, rs62653015, rs281865292, rs61752866, rs61752873, rs62642583, rs62642584, rs61752875, rs61752877, rs61752880, rs61752882, rs61752883, rs61752884, rs61752888, rs61752891, rs61751277, rs61752896, rs61752899, rs281865289, rs61752903, rs61751279, rs61752905, rs61752906, rs61752908, rs61749423, rs61748446, rs281865515, rs281865517, rs62636511, rs281865168, rs281865171, rs281865166, rs140808549, rs62637009, rs61751266, rs61751268, rs61751271, rs61751265, rs62640580, rs62640570, rs62640581, rs62640574, rs62638179, rs281865187, rs62638180, rs281865189, rs62645750, rs62645754, rs62645746, rs62636264, rs62636266, rs62645755, rs62636267, rs62635653, rs62636269, rs62636270, rs62636271, rs62636273, rs281865173, rs62636274, rs62636276, rs62636278, rs281865174, rs62635649, rs62645752, rs79436363, rs527236099, rs114342808, rs527236126, rs587783009, rs587783010, rs535922252, rs587783012, rs587783013, rs587783015, rs587783016, rs587783017, rs587783018, rs587783019, rs773372519, rs786204787, rs762631020, rs786205148, rs786205149, rs786205150, rs748902766, rs767745816, rs786205550, rs786205623, rs786205630, rs863223341, rs766608755, rs192003551, rs370119681, rs758329611, rs797044761, rs794727952, rs794729650, rs863224862, rs863224884, rs771454167, rs756302731, rs749439750, rs780624853, rs863225189, rs727503855, rs758550675, rs751218423, rs869312175, rs869320631, rs767648174, rs878853362, rs747835249, rs371496675, rs878853360, rs878853392, rs878853341, rs878853338, rs878853339, rs878853385, rs764256655, rs371526758, rs886039871, rs886039911, rs780225183, rs886042220, rs886042360, rs115352681, rs201405662, rs760915898, rs886043587, rs183261547, rs116471343, rs61752902, rs1057518122, rs1057518922, rs1057518949, rs775796581, rs368088025, rs1057519136, rs1057520152, rs752175052, rs62636260, rs777464278, rs1064797182, rs1064797304, rs1085307972, rs62645747, rs1420672586, rs1553152989, rs794727166, rs1554347012, rs1555220638, rs1555222073, rs371609982, rs768028061, rs1556313552, rs1556313557, rs1555635550, rs369775002, rs145282040, rs1553261468, rs773914330, rs1553263218, rs757740068, rs199683808, rs1553128102, rs775978677, rs747653875, rs1553722736, rs766143193, rs866395428, rs781670422, rs776880045, rs565837539, rs1555302710, rs780667159, rs1555303320, rs1555635925, rs1271498710, rs763890649, rs1553260321, rs767030473, rs1191496583, rs778606847, rs766670248, rs758593134, rs1555635668, rs201587670, rs754768875, rs775935766, rs1349849938, rs374268850, rs1554786803, rs1554786802, rs1555370458, rs1369768287, rs760540562, rs751342895, rs1429786931, rs753697847, rs564754426, rs143745703, rs771266705, rs776698746, rs1553153243, rs1555302200, rs1192112844, rs776645403, rs757609119, rs1239043055, rs1327062642, rs192907397, rs121918844, rs1429137932, rs116733939, rs1395763356, rs1226324483, rs554396590, rs776289402, rs574936510, rs750889782, rs1569531639, rs776591659, rs747393487, rs764309755, rs772170760, rs75459701, rs1264794214, rs757823463, rs759940113, rs1237424465, rs1558057153, rs1558127317, rs745422941, rs988133284, rs1566674809, rs771116776, rs1006935198, rs61750171, rs768390959, rs1568626289, rs778627080, rs752263228, rs971610277, rs1567958644, rs1557595199, rs1030149008, rs777069665, rs1208703297, rs139305531, rs1592833648, rs150412614, rs759662695, rs372066126, rs781705903, rs1592726020, rs368489658, rs758001091, rs1598146589, rs1598149659, rs968692633, rs202240410, rs1597331616, rs748798324, rs1571848688, rs143511261, rs763324776, rs774130993, rs1268307330, rs781035395, rs747138345, rs749331348, rs1468942944, rs760415289, rs1290241933, rs759408031, rs1594867551, rs200387832, rs1598144694, rs746351112, rs1594865068, rs768255532, rs1290420698, rs1300041533, rs747512450, rs567890014, rs1571848166, rs1571848855, rs1571878277, rs1571523319, rs1571525145, rs745348555, rs1571557864, rs1450635782, rs1193631220, rs1571158755, rs1571164534, rs752058510, rs527236079, rs373680665, rs745704627, rs773968778, rs1581736024, rs1178243254, rs376500610, rs61751270, rs1594865036, rs749038454, rs1594865434, rs945734402, rs1599991538, rs1599991611, rs766631462, rs745871149, rs140257538, rs1182277140, rs1769845495, rs1571848744, rs768905244, rs1571540258, rs1571544281, rs1571172233, rs1581736099, rs1581740762, rs1581742633, rs1581743256, rs765473119, rs1588830568, rs1592784618, rs1420750126, rs1594867516, rs1468041544, rs775364986, rs1598149187, rs781725943, rs890453675, rs1581735836, rs1602071524, rs772794324, rs114630940, rs1641970512, rs751644763, rs748559081, rs1286660951, rs2040637111, rs752193525, rs45502896, rs1594202505, rs1594203796, rs1325103400, rs1594280740, rs1594180177, rs1592807018, rs201070350, rs768445391, rs1581742615, rs1594865064, rs778731851, rs1660503192, rs1660516364, rs369184026, rs768713412, rs1665487563, rs1667269806, rs34627040, rs375110174, rs748972748, rs1240302846, rs1766524422, rs748370008, rs1248460033, rs1033594764, rs1186821575, rs770126103, rs745741473, rs761231974, rs752242512, rs116649873, rs2038232008, rs2038232911, rs2038317129, rs2077123571, rs2077123914, rs374255033, rs781331005, rs2039659434, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs766411096, rs1664671663, rs1558138741, rs760544654, rs562037932, rs1444234037, rs771336246, rs751589956, rs1331834680, rs762633090, rs747257567, rs761167763, rs1163040913, rs2038196341, rs760813820, rs751589863, rs760287363, rs1645823028, rs1645824187, rs774309607, rs1015895028, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1413885352, rs201883601 21763485, 25685757
Cataract Cataract rs118203965, rs118203966, rs-1, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs-1, 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
Unknown
Disease name Disease term dbSNP ID References
Ciliopathies Ciliopathies
Congenital cerebral hernia Congenital cerebral hernia
Disorder of eye Disorder of eye
Hemiplegia/hemiparesis Hemiplegia/hemiparesis

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