CHD4 (chromodomain helicase DNA binding protein 4)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1108 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Chromodomain helicase DNA binding protein 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CHD4 |
SynonymsGene synonyms aliases
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CHD-4, Mi-2b, Mi2-BETA, SIHIWES |
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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12p13.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis d |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs886039915 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs886039916 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs886039917 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs886039918 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
rs886039919 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1057520911 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1060499583 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1064795757 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1064795878 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1377989582 |
T>A,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1555170507 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1555171293 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1592270989 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1592273799 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
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|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
MBD2 |
Unknown |
23071088 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000785 |
Component |
Chromatin |
HDA |
16217013 |
GO:0001103 |
Function |
RNA polymerase II repressing transcription factor binding |
IPI |
22926524 |
GO:0003677 |
Function |
DNA binding |
TAS |
9326634 |
GO:0003678 |
Function |
DNA helicase activity |
IEA |
|
GO:0005515 |
Function |
Protein binding |
IPI |
9804427, 10220385, 17314511, 19644445, 20693977, 21258344, 21555454, 22720776, 23752268, 25150861, 26859351, 26949739, 28977666 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005654 |
Component |
Nucleoplasm |
IDA |
22720776 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
17626165 |
GO:0005813 |
Component |
Centrosome |
IDA |
17626165 |
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
TAS |
9326634 |
GO:0008134 |
Function |
Transcription factor binding |
IPI |
29795351 |
GO:0008270 |
Function |
Zinc ion binding |
TAS |
7560064 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016581 |
Component |
NuRD complex |
IDA |
19644445 |
GO:0031492 |
Function |
Nucleosomal DNA binding |
HDA |
16217013 |
GO:0032508 |
Process |
DNA duplex unwinding |
IEA |
|
GO:0032991 |
Component |
Protein-containing complex |
HDA |
16217013 |
GO:0042826 |
Function |
Histone deacetylase binding |
IPI |
27616479 |
GO:0043044 |
Process |
ATP-dependent chromatin remodeling |
HDA |
16217013 |
GO:0090575 |
Component |
RNA polymerase II transcription regulator complex |
IDA |
29795351 |
GO:1901796 |
Process |
Regulation of signal transduction by p53 class mediator |
TAS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
Protein
|
UniProt ID |
Q14839 |
Protein name |
Chromodomain-helicase-DNA-binding protein 4 (CHD-4) (EC 3.6.4.-) (ATP-dependent helicase CHD4) (Mi-2 autoantigen 218 kDa protein) (Mi2-beta) |
Protein function |
ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA (PubMed:28977666, PubMed:32543371). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, |
PDB |
1MM2
,
1MM3
,
2EE1
,
2L5U
,
2L75
,
2N5N
,
4O9I
,
6BGG
,
6Q3M
,
6RYR
,
6RYU
,
8D4Y
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF08073 |
CHDNT |
164 → 217 |
CHDNT (NUC034) domain |
Domain |
PF00628 |
PHD |
372 → 417 |
PHD-finger |
Domain |
PF00628 |
PHD |
451 → 496 |
PHD-finger |
Domain |
PF00385 |
Chromo |
622 → 674 |
Chromo (CHRromatin Organisation MOdifier) domain |
Domain |
PF00176 |
SNF2_N |
699 → 1025 |
SNF2 family N-terminal domain |
Family |
PF00271 |
Helicase_C |
1050 → 1164 |
Helicase conserved C-terminal domain |
Family |
PF06465 |
DUF1087 |
1292 → 1352 |
Domain of Unknown Function (DUF1087) |
Domain |
PF06461 |
DUF1086 |
1380 → 1521 |
Domain of Unknown Function (DUF1086) |
Domain |
PF08074 |
CHDCT2 |
1725 → 1851 |
CHDCT2 (NUC038) domain |
Domain |
|
Sequence |
|
Sequence length |
1912 |
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 |
Autism |
Autistic Disorder |
rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
30559488 |
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
|
Endometrial carcinoma |
Endometrial Carcinoma |
rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615 |
23104009 |
Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
|
Mental retardation |
Intellectual Disability |
rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131 |
|
Multiple congenital anomalies |
Multiple congenital anomalies |
rs1057517732 |
26116663, 27479907, 20693977, 24348274, 27616479, 22302795, 27418512, 28135719, 25849321 |
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
|
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
21743468 |
Sifrim-hitz-weiss syndrome |
SIFRIM-HITZ-WEISS SYNDROME |
rs886039915, rs886039916, rs886039917, rs886039918, rs886039919, rs1060499583, rs1592270989, rs1592273799 |
27616479, 27479907 |
Tetralogy of fallot |
Tetralogy of Fallot |
rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 |
|
Vesicoureteral reflux |
Vesico-Ureteral Reflux |
rs587777684, rs148731211 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Ambiguous genitalia |
Ambiguous Genitalia |
rs782562963 |
|
Arnold-chiari malformation |
Arnold Chiari Malformation |
|
|
Astigmatism |
Astigmatism |
|
|
Congenital epicanthus |
Congenital Epicanthus |
|
|
Development disorder |
Developmental Disabilities, Child Development Deviations, Child Development Disorders, Specific |
|
30559488 |
Dwarfism |
Dwarfism |
|
|
Dysmorphic features |
Dysmorphic features |
|
27616479, 27418512, 28135719, 24348274, 27479907, 22302795, 25849321, 26116663, 20693977 |
Endometrial neoplasms |
Endometrial Neoplasms |
|
23104009 |
Penis agenesis |
Penis agenesis |
|
|
Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
|
Trigonocephaly |
Trigonocephaly |
rs281875280, rs184394424, rs200650442, rs762799389, rs556974765 |
|
|
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