DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit)
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Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9681 |
Gene nameGene Name - the full gene name approved by the HGNC.
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DEP domain containing 5, GATOR1 subcomplex subunit |
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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DEPDC5 |
SynonymsGene synonyms aliases
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DEE111, DEP.5, FFEVF, FFEVF1, FPEVF |
ChromosomeChromosome number
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22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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22q12.2-q12.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs16989535 |
C>T |
Benign, pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
rs142540948 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant |
rs181347577 |
C>T |
Likely-benign, benign, benign-likely-benign, pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
rs187334123 |
G>A,T |
Uncertain-significance, benign-likely-benign, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
rs201202102 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant |
rs201312113 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
rs202083639 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
rs370940232 |
A>C |
Pathogenic, uncertain-significance |
Non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, intron variant, coding sequence variant |
rs371377906 |
C>T |
Pathogenic, likely-benign |
Genic downstream transcript variant, intron variant |
rs374158137 |
T>A,C |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, synonymous variant, stop gained, coding sequence variant |
rs541024038 |
C>G,T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, stop gained, coding sequence variant |
rs578185749 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
rs587776973 |
C>G,T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant |
rs587776974 |
GTT>- |
Pathogenic |
Inframe deletion, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
rs587776975 |
G>A |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, stop gained |
rs587776976 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
rs587776977 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
rs587777458 |
C>G,T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant |
rs587777459 |
C>G,T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant |
rs757511744 |
C>G,T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant |
rs759952667 |
C>A,T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant |
rs766360619 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs768241563 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs768456731 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs772872014 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs780960812 |
C>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant |
rs786205703 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs797044545 |
A>G |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
rs797044546 |
C>T |
Pathogenic |
Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant |
rs879255234 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039243 |
G>C |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
rs886039244 |
->C |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039245 |
G>A |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
rs886039246 |
G>A |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
rs886039247 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs886039248 |
AT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039249 |
G>A |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
rs886039250 |
TCGTT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039251 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs886039252 |
G>A |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
rs886039253 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs886039254 |
TGAG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039255 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs886039256 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs886039257 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039258 |
->GATTTGG |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
rs886039259 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs886039260 |
C>G,T |
Pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant |
rs886039261 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs886039262 |
CTGCATG>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
rs886039263 |
C>T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant |
rs886039264 |
A>- |
Pathogenic |
Non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant |
rs886039265 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained |
rs886039266 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
rs886039267 |
G>A |
Pathogenic |
Downstream transcript variant, intron variant, genic downstream transcript variant |
rs886039268 |
C>T |
Pathogenic |
Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, coding sequence variant |
rs886039269 |
C>T |
Pathogenic |
Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant |
rs886039270 |
A>G |
Pathogenic |
Intron variant, genic downstream transcript variant |
rs886039271 |
C>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant |
rs886039272 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant |
rs886039273 |
G>A |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant |
rs886039274 |
C>T |
Pathogenic |
Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant |
rs886039280 |
A>G |
Uncertain-significance, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
rs1057519107 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
rs1057524233 |
G>A |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
rs1060501487 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, genic upstream transcript variant |
rs1060501488 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
rs1064794917 |
G>C |
Likely-pathogenic |
Genic upstream transcript variant, intron variant |
rs1085307452 |
GG>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
rs1261611694 |
G>A,C |
Likely-pathogenic |
Splice donor variant, intron variant, genic downstream transcript variant |
rs1315483224 |
C>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, stop gained |
rs1372605067 |
CT>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant |
rs1383795440 |
G>C |
Pathogenic |
5 prime UTR variant, non coding transcript variant, genic upstream transcript variant |
rs1475605360 |
->A |
Not-provided, likely-pathogenic |
Genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1555882867 |
G>C |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant |
rs1555882921 |
AT>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
rs1555885023 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant |
rs1555897392 |
->AGA |
Pathogenic |
Inframe indel, non coding transcript variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant |
rs1555900914 |
ACTGCGACATCTATGGGGACAGGCCC>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
rs1555914806 |
->TC |
Likely-pathogenic |
Intron variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1555942720 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
rs1556526609 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, intron variant, splice acceptor variant |
rs1556607762 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, intron variant, splice donor variant |
rs1556608580 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
rs1568955379 |
C>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1568963062 |
CAGG>- |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1568991466 |
C>T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
rs1569012755 |
->A |
Pathogenic |
Genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1569067939 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant |
rs1569083500 |
CTCAGAGTTC>GGACA |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
rs1569166925 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1569186093 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant |
rs1569232705 |
C>G |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant |
rs1569254004 |
->CA |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
rs1569512941 |
C>T |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
rs1569523728 |
GA>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1601599644 |
A>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1601755632 |
->CTGG |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1601875057 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
rs1601925213 |
GAAGA>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1601935630 |
AT>- |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1601969933 |
AG>- |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1601970168 |
G>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1601970824 |
T>G |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
rs1602010382 |
C>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
rs1602349641 |
G>T |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
rs1602903591 |
C>T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant |
rs1603014297 |
->T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
rs1603014708 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous 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
|
UniProt ID |
O75140 |
Protein name |
GATOR1 complex protein DEPDC5 (DEP domain-containing protein 5) |
Protein function |
As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:25457612, PubMed:29590090, PubMed:29769719, PubMed:31548394, PubMed:35338845). In response to amino ac |
PDB |
6CES
,
6CET
,
7T3A
,
7T3B
,
7T3C
,
8FW5
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12257 |
IML1 |
100 → 382 |
Vacuolar membrane-associated protein Iml1 |
Family |
PF00610 |
DEP |
1190 → 1260 |
Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) |
Domain |
|
Sequence |
|
Sequence length |
1603 |
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 |
Diabetes mellitus |
Diabetes Mellitus, Non-Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 |
30130595 |
Epilepsy |
Epilepsy, Rolandic, Epilepsy, Partial, with Variable Foci, EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1, Familial focal epilepsy with variable foci |
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 |
29358611, 28102150, 28199897, 23542701, 23542697, 29481864, 26505888, 26000329, 24283814, 24814846, 29950950, 29708509, 27066554, 29761115, 26704558, 29861134, 24585383, 23542697, 25366275, 26000329, 24591017, 23542701, 27066554, 26216793, 26505888, 24585383, 24283814, 25599672, 24814846, 25623524, 27066544, 27066565, 27159400, 27173016, 26704558, 10577924 |
Epilepsy with auditory features |
Autosomal dominant epilepsy with auditory features |
rs104894166, rs119488099, rs797044999, rs797044998, rs1060502054, rs1060502053, rs1064794249, rs1554907787, rs1554907767, rs1564845068, rs1564851314, rs1589776148, rs1364913665 |
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Temporal lobe epilepsy |
Autosomal Dominant Lateral Temporal Lobe Epilepsy |
rs794727996, rs794727997, rs794727998, rs794727999, rs1057517661 |
23542697, 23542701 |
Hemimegalencephaly |
Hemimegalencephaly |
rs1057519914, rs1554438588 |
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Lymphoblastic leukemia |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 |
28090653 |
Nocturnal epilepsy |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
rs74315291, rs121909580, rs28931591, rs104894063, rs397515405, rs397515406, rs397515407, rs281865067, rs281865070, rs397518459, rs201740530, rs886037653, rs587777264, rs797044544, rs1554771469, rs1554514507, rs1588385233, rs2092986219 |
23542701, 23542697 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Liver carcinoma |
Liver carcinoma |
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23242368, 21725309 |
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