PIGA (phosphatidylinositol glycan anchor biosynthesis class A)
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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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5277 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Phosphatidylinositol glycan anchor biosynthesis class A |
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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PIGA |
SynonymsGene synonyms aliases
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GPI3, MCAHS2, NEDEPH, PIG-A, PNH1 |
ChromosomeChromosome number
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X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xp22.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anc |
SNPsSNP information provided by dbSNP.
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| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs199422232 |
G>T |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained |
| rs199422233 |
G>A |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained |
| rs201119959 |
T>A,C |
Uncertain-significance, pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant |
| rs387906726 |
G>A,T |
Likely-benign, pathogenic |
Non coding transcript variant, synonymous variant, stop gained, coding sequence variant |
| rs587776723 |
A>- |
Pathogenic |
Splice donor variant |
| rs587776724 |
->T |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant |
| rs587776725 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs587776726 |
->AC |
Pathogenic |
Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant |
| rs587776727 |
G>- |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant |
| rs587776728 |
GA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs587777396 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant |
| rs587777397 |
->A |
Pathogenic |
Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant |
| rs587777398 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant |
| rs587777399 |
AAG>- |
Pathogenic |
Non coding transcript variant, inframe deletion, coding sequence variant |
| rs587777400 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant |
| rs786200912 |
->TTTCAATGATAGAATCTGGAGTCATCCATCTCAA |
Pathogenic |
Stop gained, inframe indel, non coding transcript variant, coding sequence variant |
| rs797044924 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, missense variant, upstream transcript variant, coding sequence variant |
| rs879255543 |
->C |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, upstream transcript variant, frameshift variant, coding sequence variant |
| rs1057523554 |
T>C |
Likely-pathogenic |
Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
| rs1060499625 |
G>C |
Likely-pathogenic |
Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
| rs1060499666 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1555945480 |
G>A |
Likely-pathogenic |
Intron variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant |
| rs1555945553 |
C>T |
Likely-pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant |
| rs1602206514 |
->TCCAGGCA |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1602208229 |
A>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1602212285 |
G>A |
Likely-pathogenic |
Coding sequence variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense 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 |
P37287 |
| Protein name |
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (GlcNAc-PI synthesis protein) (Phosphatidylinositol-glycan biosynthesis class A protein) (PIG-A) |
| Protein function |
Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF08288 |
PIGA |
72 → 161 |
PIGA (GPI anchor biosynthesis) |
Family |
| PF00534 |
Glycos_transf_1 |
214 → 371 |
Glycosyl transferases group 1 |
Family |
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Sequence |
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| Sequence length |
484 |
| 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 |
| Anemia |
Anemia, Hemolytic |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
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| Aplastic anemia |
Aplastic Anemia |
rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992, rs113993994, rs113993998, rs199422298, rs199422305, rs199422273, rs199422275, rs199422276, rs199422259, rs199422279, rs199422280, rs199422281, rs199422283, rs587780100, rs587781305, rs587781891, rs587781969, rs587782130, rs587782545, rs730881864, rs730881857, rs730881850, rs730881839, rs142301194, rs786201745, rs764884516, rs786202490, rs768378152, rs574673404, rs767215758, rs786205135, rs762664474, rs751161742, rs373730800, rs864622143, rs864622090, rs864622511, rs864622253, rs786201965, rs756363734, rs766044684, rs876659521, rs876659592, rs113993990, rs751247865, rs1057517262, rs1057516668, rs1057516611, rs1057516320, rs1057516772, rs931715719, rs767454740, rs1057519587, rs1060503483, rs1060503467, rs1064795816, rs1064793210, rs1131691842, rs772797192, rs751567476, rs780235686, rs1554562083, rs578092914, rs147035858, rs189650890, rs759232053, rs1554558613, rs1554567892, rs1554564297, rs1554558472, rs1554559083, rs1349928568, rs1178384498, rs1198614767, rs1554558449, rs1554568427, rs752858869, rs147462227, rs748513310, rs1238152597, rs760237820, rs1554562110, rs750375741, rs758708229, rs768849283, rs1563578540, rs1563526747, rs1563559078, rs772005832, rs1563539146, rs778306619, rs771475965, rs1586052851, rs1554559094, rs776571416, rs200430442, rs776299562, rs1584439050, rs1586075907, rs1586101154, rs1586059584, rs1586088924, rs1810540992, rs772411713, rs1812023981 |
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| Atrial septal defect |
Atrial Septal Defects |
rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125 |
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| 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 |
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| Developmental regression |
Developmental regression |
rs1224421127 |
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| Epileptic encephalopathy |
Epileptic encephalopathy |
rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325 |
|
| Hydrops fetalis |
Hydrops Fetalis |
rs28935477, rs1131691986 |
|
| Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
|
| Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
|
| Multiple congenital anomalies-hypotonia-seizures syndrome |
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, Multiple congenital anomalies-hypotonia-seizures syndrome type 2 |
rs387906726, rs397514475, rs587777027, rs587777186, rs587777187, rs587777396, rs587777397, rs587777398, rs201119959, rs587777399, rs587777400, rs527236031, rs527236032, rs756632799, rs886039216, rs749334082, rs369486176, rs779636222, rs886039217, rs376355678, rs886039218, rs886041514, rs200199765, rs201317502, rs535563062, rs1060499625, rs771691280, rs760977825, rs746882521, rs771157170, rs1555696769, rs1287655964, rs1382897257, rs1277383877, rs1555685797, rs1555683948, rs751861982, rs1555694770, rs1555682938, rs1035743375, rs774753616, rs1568224018, rs376226764, rs763009552, rs200790673, rs1568169374, rs776697598, rs571714796, rs1569180100, rs768557691, rs750418747, rs374704368, rs754517456, rs199968454, rs1602212285, rs759453664, rs1462805697, rs1599520660, rs1599525360, rs1599531710, rs1602206514, rs2033603128, rs867437443, rs2033909461, rs1050258088, rs1921817809, rs1922162801, rs776568529, rs2033087760, rs1458045074, rs1444518753 |
26993267, 25885527, 24706016, 22305531, 29656098, 27604308, 24259288, 22514539, 24259184 |
| Myelodysplasia |
Myelodysplasia |
rs141601766, rs1261178797 |
|
| Myelodysplastic syndrome |
MYELODYSPLASTIC SYNDROME |
rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587 |
|
| Myocardial infarction |
Myocardial Infarction |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
|
| Paroxysmal nocturnal hemoglobinuria |
Paroxysmal nocturnal hemoglobinuria, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 |
rs587776723, rs199422232, rs587776724, rs587776725, rs199422233, rs587776726, rs587776727, rs587776728, rs2147483647, rs786200912, rs199422256, rs587777028, rs587777396, rs1555876283, rs776974834, rs1569180100 |
16767100, 15720958, 22305531, 8500164, 10087994, 12037021, 8167330, 8306954 |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension |
rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954 |
|
| Thrombophilia |
Thrombophilia |
rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916 |
|
| West syndrome |
West Syndrome |
rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104 |
24357517 |
|
| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Absence of septum pellucidum |
Absence of septum pellucidum |
|
|
| Central visual impairment |
Central visual impairment |
|
|
| Cerebellar hypoplasia |
Cerebellar Hypoplasia |
|
|
| Cerebral artery stenosis |
Cerebral artery stenosis |
|
|
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
|
|
| Dysphagia |
Deglutition Disorders |
|
|
| Ferrocerebrocutaneous syndrome |
Ferro-cerebro-cutaneous syndrome |
|
24259288 |
| High palate |
Byzanthine arch palate |
|
|
| Hypoplasia of corpus callosum |
Hypoplasia of corpus callosum |
|
|
| Hypoplastic anemia |
Hypoplastic anemia |
|
|
| Microdontia |
Microdontia (disorder) |
|
|
| Micrognathism |
Micrognathism |
|
|
| Microstomia |
Microstomia |
|
|
| Myoclonic seizures |
Generalized myoclonic seizures |
|
|
| Paroxysmal cold hemoglobinuria |
Cold paroxysmal hemoglobinuria |
|
16767100, 15720958 |
| Paroxysmal hemoglobinuria |
Hemoglobinuria, Paroxysmal |
|
15720958, 16767100 |
| Penis agenesis |
Penis agenesis |
|
|
| Spasms syndrome |
Infantile spasms syndrome |
|
|
| Transient ischemic attack |
Transient Ischemic Attack |
|
|
|
|
|
