USP7 (ubiquitin specific peptidase 7)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7874 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Ubiquitin specific peptidase 7 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
USP7 |
SynonymsGene synonyms aliases
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C16DELp13.2, DEL16P13.2, HAFOUS, HAUSP, TEF1 |
ChromosomeChromosome number
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16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and re |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs781247345 |
G>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant |
rs1555462347 |
CT>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0002039 |
Function |
P53 binding |
IDA |
20096447 |
GO:0004197 |
Function |
Cysteine-type endopeptidase activity |
IBA |
21873635 |
GO:0004197 |
Function |
Cysteine-type endopeptidase activity |
IMP |
21745816 |
GO:0004843 |
Function |
Thiol-dependent ubiquitin-specific protease activity |
IBA |
21873635 |
GO:0004843 |
Function |
Thiol-dependent ubiquitin-specific protease activity |
IDA |
16964248, 21745816, 26280536, 28655758 |
GO:0004843 |
Function |
Thiol-dependent ubiquitin-specific protease activity |
IMP |
11923872, 26678539 |
GO:0004843 |
Function |
Thiol-dependent ubiquitin-specific protease activity |
TAS |
|
GO:0005515 |
Function |
Protein binding |
IPI |
11279055, 11923872, 15916963, 16402859, 16474402, 16713569, 16845383, 17268548, 17936559, 18566590, 18716620, 18729074, 20601937, 20697359, 21170034, 21258371, 21745816, 21988832, 22056774, 22466611, 22466612, 22653443, 22810586, 22863774, 24823443, 24981860, 25172512, 25266658, 255 |
GO:0005634 |
Component |
Nucleus |
HDA |
16791210 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IDA |
11279055, 12093161, 16964248, 18410486, 20096447, 21258371, 26365382, 26678539 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005694 |
Component |
Chromosome |
IEA |
|
GO:0005829 |
Component |
Cytosol |
IBA |
21873635 |
GO:0005829 |
Component |
Cytosol |
IDA |
11279055, 26365382 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006111 |
Process |
Regulation of gluconeogenesis |
IDA |
28655758 |
GO:0006283 |
Process |
Transcription-coupled nucleotide-excision repair |
IMP |
22466612 |
GO:0006283 |
Process |
Transcription-coupled nucleotide-excision repair |
TAS |
|
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
IEA |
|
GO:0007275 |
Process |
Multicellular organism development |
IEA |
|
GO:0008022 |
Function |
Protein C-terminus binding |
IPI |
12093161 |
GO:0008134 |
Function |
Transcription factor binding |
IPI |
16964248 |
GO:0010216 |
Process |
Maintenance of DNA methylation |
IMP |
21745816 |
GO:0016032 |
Process |
Viral process |
IEA |
|
GO:0016567 |
Process |
Protein ubiquitination |
TAS |
|
GO:0016579 |
Process |
Protein deubiquitination |
IBA |
21873635 |
GO:0016579 |
Process |
Protein deubiquitination |
IDA |
16964248, 21258371, 21745816, 25172512 |
GO:0016579 |
Process |
Protein deubiquitination |
IMP |
11923872, 18410486, 26678539, 27123980 |
GO:0016579 |
Process |
Protein deubiquitination |
TAS |
|
GO:0016604 |
Component |
Nuclear body |
HDA |
16791210 |
GO:0016605 |
Component |
PML body |
IEA |
|
GO:0018215 |
Process |
Protein phosphopantetheinylation |
IEA |
|
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
11279055, 18410486, 18566590 |
GO:0031647 |
Process |
Regulation of protein stability |
IBA |
21873635 |
GO:0031647 |
Process |
Regulation of protein stability |
IDA |
27123980 |
GO:0032088 |
Process |
Negative regulation of NF-kappaB transcription factor activity |
IDA |
11279055 |
GO:0032435 |
Process |
Negative regulation of proteasomal ubiquitin-dependent protein catabolic process |
IMP |
26678539 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
26678539 |
GO:0035520 |
Process |
Monoubiquitinated protein deubiquitination |
IDA |
26280536 |
GO:0035616 |
Process |
Histone H2B conserved C-terminal lysine deubiquitination |
ISS |
|
GO:0042752 |
Process |
Regulation of circadian rhythm |
IDA |
27123980 |
GO:0048511 |
Process |
Rhythmic process |
IEA |
|
GO:0050821 |
Process |
Protein stabilization |
IDA |
21258371, 25172512 |
GO:0050821 |
Process |
Protein stabilization |
IMP |
18410486 |
GO:0051090 |
Process |
Regulation of DNA-binding transcription factor activity |
IDA |
16964248 |
GO:0070536 |
Process |
Protein K63-linked deubiquitination |
IDA |
28655758 |
GO:0071108 |
Process |
Protein K48-linked deubiquitination |
IEA |
|
GO:0101005 |
Function |
Ubiquitinyl hydrolase activity |
IMP |
18410486 |
GO:1901537 |
Process |
Positive regulation of DNA demethylation |
IDA |
25944111 |
GO:1904353 |
Process |
Regulation of telomere capping |
TAS |
25172512 |
GO:1905279 |
Process |
Regulation of retrograde transport, endosome to Golgi |
IMP |
26365382 |
GO:1990380 |
Function |
Lys48-specific deubiquitinase activity |
IDA |
25944111 |
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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 |
Q93009 |
Protein name |
Ubiquitin carboxyl-terminal hydrolase 7 (EC 3.4.19.12) (Deubiquitinating enzyme 7) (Herpesvirus-associated ubiquitin-specific protease) (Ubiquitin thioesterase 7) (Ubiquitin-specific-processing protease 7) |
Protein function |
Hydrolase that deubiquitinates target proteins such as ARMC5, FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248, PubMed:18716620, PubMed:25283148, PubMed:258657 |
PDB |
1NB8
,
1NBF
,
1YY6
,
1YZE
,
2F1W
,
2F1X
,
2F1Y
,
2F1Z
,
2FOJ
,
2FOO
,
2FOP
,
2KVR
,
2XXN
,
2YLM
,
3MQR
,
3MQS
,
4JJQ
,
4KG9
,
4M5W
,
4M5X
,
4PYZ
,
4WPH
,
4WPI
,
4YOC
,
4YSI
,
4Z96
,
4Z97
,
5C56
,
5C6D
,
5FWI
,
5GG4
,
5J7T
,
5JTJ
,
5JTV
,
5KYB
,
5KYC
,
5KYD
,
5KYE
,
5KYF
,
5N9R
,
5N9T
,
5NGE
,
5NGF
,
5UQV
,
5UQX
,
5VS6
,
5VSB
,
5VSK
,
5WHC
,
6F5H
,
6M1K
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00917 |
MATH |
74 → 196 |
MATH domain |
Domain |
PF00443 |
UCH |
214 → 518 |
Ubiquitin carboxyl-terminal hydrolase |
Family |
PF12436 |
USP7_ICP0_bdg |
620 → 865 |
ICP0-binding domain of Ubiquitin-specific protease 7 |
Family |
PF14533 |
USP7_C2 |
875 → 1086 |
Ubiquitin-specific protease C-terminal |
Family |
|
Sequence |
|
Sequence length |
1102 |
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 |
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 |
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Dysautonomia |
Autonomic bladder dysfunction |
rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995 |
|
Mental retardation |
Mild Mental Retardation |
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 |
|
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29610475 |
Vesicoureteral reflux |
Vesico-Ureteral Reflux |
rs587777684, rs148731211 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
16p13.2 deletion syndrome |
CHROMOSOME 16p13.2 DELETION SYNDROME, 16p13.2 microdeletion syndrome |
|
26365382 |
Anxiety disorder |
Anxiety |
|
|
Urinary bladder cancer |
Malignant neoplasm of urinary bladder |
|
26039340 |
Bladder neoplasm |
Bladder Neoplasm |
|
26039340 |
Bowel incontinence |
Fecal Incontinence |
|
|
Dyscognitive seizures |
Complex partial seizure with impairment of consciousness |
|
|
Macrodontia |
Macrodontia |
|
|
Optic neuropathy |
Optic Neuropathy |
|
|
Prostatic neoplasms |
Prostatic Neoplasms |
|
29610475 |
Sleep apnea |
Sleep Apnea Syndromes |
|
|
Strabismus |
Strabismus |
|
|
|
|
|