PURA (purine rich element binding protein A)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5813 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Purine rich element binding protein A |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PURA |
SynonymsGene synonyms aliases
|
MRD31, NEDRIHF, PUR-ALPHA, PUR1, PURALPHA |
ChromosomeChromosome number
|
5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q31.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of euka |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs587782991 |
TCT>- |
Pathogenic |
Inframe deletion, coding sequence variant |
| rs587782992 |
TC>-,TCTC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs587782993 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs587782994 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs587782995 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs587782996 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
| rs587782997 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs587782998 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs587782999 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs587783000 |
TCG>- |
Pathogenic |
Coding sequence variant, inframe indel |
| rs587783001 |
G>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs786204833 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786204834 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs786204835 |
TTC>- |
Pathogenic |
Coding sequence variant, inframe deletion |
| rs793888527 |
T>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs793888530 |
A>G,T |
Pathogenic |
Missense variant, initiator codon variant |
| rs793888531 |
T>C,G |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs793888533 |
CTCTCTCCA>- |
Pathogenic |
Coding sequence variant, inframe deletion |
| rs793888537 |
GCGGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs793888538 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs793888539 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs797044866 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs797044944 |
CACCCTGCTACTGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255390 |
TCCGCCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886039610 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs886039899 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs886041600 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886041754 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886041894 |
GCTGGGTTCGGGCGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886042017 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886042229 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1057524051 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1057524637 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1064793665 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793761 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795164 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064795165 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064795428 |
ATC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
| rs1064795465 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795567 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064795621 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064796409 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1064796830 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1085307472 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1085307826 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1554128999 |
GACCG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554129000 |
ACAGCGGCAGCG>C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554129008 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554129023 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554129039 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554129040 |
->G |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554129045 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554129049 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554129050 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554129064 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554129069 |
->GC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554129086 |
A>C,G |
Likely-benign, likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
| rs1554129089 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554129091 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554129096 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554129099 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs1554129100 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554129113 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs1554129114 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554129116 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554129118 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs1561792945 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1561793115 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1561793211 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1561793219 |
->AGGACGAGCCGCGC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1561793268 |
->GCCG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1561793336 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1561793344 |
GACGACT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1581036001 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036015 |
->GGGTTCGGGCGGCTCC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036040 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036051 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036073 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036115 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036164 |
->CCCCAGGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036262 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036297 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036318 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs1581036360 |
AGGACGAGCCGCGCCGGGCGCTCAAAAGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036383 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036396 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1581036405 |
GCGAGAAC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036424 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1581036474 |
->TGGCCTGGGCTCCACGCAGGGC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1581036496 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1581036537 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1581036558 |
G>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
|
| Transcription factors
|
| Transcription factor |
Regulation |
Reference |
| IRF3 |
Repression |
21062477 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
| Protein
|
| UniProt ID |
Q00577 |
| Protein name |
Transcriptional activator protein Pur-alpha (Purine-rich single-stranded DNA-binding protein alpha) |
| Protein function |
This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene (PubMed:1448097, PubMed:20976240). May play a role in the initiation of DNA replication and in r |
| PDB |
8CHT
,
8CHU
,
8CHV
,
8CHW
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF04845 |
PurA |
58 → 278 |
PurA ssDNA and RNA-binding protein |
Family |
|
Sequence |
|
| Sequence length |
322 |
| Interactions |
View interactions |
| Associated diseases
|
| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Developmental delay |
Global developmental delay, Gross motor development 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 |
|
| Epilepsy |
Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy |
rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532 |
29942082 |
| Hypotonia-seizures-encephalopathy syndrome |
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
rs587782991, rs587782992, rs587782993, rs587782994, rs587782995, rs587782999, rs587783001, rs786204833, rs786204834, rs786204835, rs793888530, rs793888533, rs793888527, rs886039899, rs1057524637, rs1064793665, rs1064795165, rs1064796830, rs1085307472, rs1554129040, rs1554129091, rs1554129096, rs1554129069, rs1554129114, rs1554129045, rs1554129100, rs1554129008, rs1561793336, rs1561793344, rs1561793115, rs1561793272, rs1561792945, rs1561793211, rs1561793268, rs1561793219, rs1581036558, rs1581036115, rs1581036297, rs1581036318, rs1581036396, rs1581036449, rs1581036405, rs1581036496, rs1064795567, rs1581036015, rs1581036164 |
|
| Mental retardation |
Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 |
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 |
25342064, 25342064, 25439098, 29097605, 27148565 |
| Hypotonia |
Neonatal Hypotonia |
rs141138948, rs397517172, rs869312824, rs1583169151 |
|
| Neurodevelopmental disorders |
Neurodevelopmental Disorders |
rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 |
29942082 |
| Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
|
|
| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Choreoathetosis |
Choreoathetosis |
|
|
| Dysmorphic features |
Dysmorphic features |
|
29150892, 17698009, 19854944, 28164378, 12972605, 23950017, 19182532, 1706516, 26582469, 28486374, 27148565, 25342064, 25439098, 18266931, 21594995, 22711443, 29097605 |
| Esotropia |
Esotropia |
|
|
| Expressive language delay |
Severe expressive language delay |
|
|
| High palate |
Byzanthine arch palate |
|
|
| Hyperopic astigmatism |
Hyperopic astigmatism |
|
|
| Hypertyrosinemia |
Hypertyrosinemia |
rs774495352, rs886052276, rs112731997, rs146280073, rs756182015, rs200464452, rs547847694, rs886052268, rs199549271, rs3741591, rs56043846, rs3057106, rs117706276 |
|
| Hypoglycemia |
Hypoglycemia |
|
|
| Malnutrition |
Malnutrition |
|
|
| Movement disorders |
Movement Disorders |
|
22711443, 1706516, 17698009, 25342064, 26582469, 28164378, 29097605, 12972605, 25439098, 19854944, 27148565, 29150892, 23950017, 28486374, 18266931, 19182532, 21594995 |
| Osteopenia |
Osteopenia |
|
|
| Strabismus |
Strabismus |
|
|
|
|
|
