PTPN1 (protein tyrosine phosphatase non-receptor type 1)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5770 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Protein tyrosine phosphatase non-receptor type 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PTPN1 |
SynonymsGene synonyms aliases
|
PTP1B |
ChromosomeChromosome number
|
20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20q13.13 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters s |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs16989673 |
->G |
Risk-factor |
3 prime UTR variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
AR |
Unknown |
22282656 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0003723 |
Function |
RNA binding |
HDA |
22658674 |
GO:0004725 |
Function |
Protein tyrosine phosphatase activity |
IDA |
18074158, 21707536, 22169477 |
GO:0004725 |
Function |
Protein tyrosine phosphatase activity |
TAS |
|
GO:0005158 |
Function |
Insulin receptor binding |
IEA |
|
GO:0005515 |
Function |
Protein binding |
IPI |
8702689, 8940134, 8999839, 9050838, 9355745, 9407132, 9418872, 9566916, 9600099, 10660596, 10889023, 11007774, 11106648, 11163213, 11506178, 11579209, 11694501, 11970898, 12023880, 12176037, 12237455, 12614164, 12634852, 12857726, 12907755, 14527337, 14722096, 15588987, 15821101, 158 |
GO:0005759 |
Component |
Mitochondrial matrix |
IEA |
|
GO:0005769 |
Component |
Early endosome |
IDA |
21135139 |
GO:0005783 |
Component |
Endoplasmic reticulum |
IDA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IDA |
21135139 |
GO:0006470 |
Process |
Protein dephosphorylation |
IMP |
22045810 |
GO:0007257 |
Process |
Activation of JUN kinase activity |
IEA |
|
GO:0008270 |
Function |
Zinc ion binding |
IDA |
18074158 |
GO:0008286 |
Process |
Insulin receptor signaling pathway |
IEA |
|
GO:0009966 |
Process |
Regulation of signal transduction |
IMP |
21135139 |
GO:0009968 |
Process |
Negative regulation of signal transduction |
TAS |
|
GO:0019899 |
Function |
Enzyme binding |
IPI |
22169477 |
GO:0019901 |
Function |
Protein kinase binding |
IPI |
22169477 |
GO:0030061 |
Component |
Mitochondrial crista |
IEA |
|
GO:0030100 |
Process |
Regulation of endocytosis |
IDA |
21135139 |
GO:0030948 |
Process |
Negative regulation of vascular endothelial growth factor receptor signaling pathway |
ISS |
|
GO:0030968 |
Process |
Endoplasmic reticulum unfolded protein response |
IDA |
22169477 |
GO:0030971 |
Function |
Receptor tyrosine kinase binding |
IPI |
18819921 |
GO:0031532 |
Process |
Actin cytoskeleton reorganization |
IMP |
21135139 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
28246125 |
GO:0033157 |
Process |
Regulation of intracellular protein transport |
IMP |
22045810 |
GO:0034620 |
Process |
Cellular response to unfolded protein |
TAS |
22013210 |
GO:0035335 |
Process |
Peptidyl-tyrosine dephosphorylation |
IDA |
21135139 |
GO:0035335 |
Process |
Peptidyl-tyrosine dephosphorylation |
IMP |
14966296 |
GO:0035791 |
Process |
Platelet-derived growth factor receptor-beta signaling pathway |
IMP |
14966296 |
GO:0036498 |
Process |
IRE1-mediated unfolded protein response |
IEA |
|
GO:0043407 |
Process |
Negative regulation of MAP kinase activity |
IMP |
22045810 |
GO:0045296 |
Function |
Cadherin binding |
HDA |
25468996 |
GO:0046627 |
Process |
Negative regulation of insulin receptor signaling pathway |
NAS |
11742412 |
GO:0046875 |
Function |
Ephrin receptor binding |
IPI |
21135139 |
GO:0051721 |
Function |
Protein phosphatase 2A binding |
IEA |
|
GO:0060338 |
Process |
Regulation of type I interferon-mediated signaling pathway |
TAS |
|
GO:0060397 |
Process |
Growth hormone receptor signaling pathway via JAK-STAT |
TAS |
|
GO:0061098 |
Process |
Positive regulation of protein tyrosine kinase activity |
IDA |
21216966 |
GO:0070373 |
Process |
Negative regulation of ERK1 and ERK2 cascade |
ISS |
|
GO:0097443 |
Component |
Sorting endosome |
ISS |
|
GO:0098554 |
Component |
Cytoplasmic side of endoplasmic reticulum membrane |
IDA |
1739967 |
GO:1902202 |
Process |
Regulation of hepatocyte growth factor receptor signaling pathway |
IMP |
18819921 |
GO:1902236 |
Process |
Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway |
IEA |
|
GO:1903896 |
Process |
Positive regulation of IRE1-mediated unfolded protein response |
TAS |
22013210 |
GO:1903898 |
Process |
Negative regulation of PERK-mediated unfolded protein response |
IDA |
21216966 |
GO:1990264 |
Process |
Peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity |
ISS |
|
GO:2000646 |
Process |
Positive regulation of receptor catabolic process |
IMP |
22045810 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P18031 |
Protein name |
Tyrosine-protein phosphatase non-receptor type 1 (EC 3.1.3.48) (Protein-tyrosine phosphatase 1B) (PTP-1B) |
Protein function |
Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- |
PDB |
1A5Y
,
1AAX
,
1BZC
,
1BZH
,
1BZJ
,
1C83
,
1C84
,
1C85
,
1C86
,
1C87
,
1C88
,
1ECV
,
1EEN
,
1EEO
,
1G1F
,
1G1G
,
1G1H
,
1G7F
,
1G7G
,
1GFY
,
1I57
,
1JF7
,
1KAK
,
1KAV
,
1L8G
,
1LQF
,
1NL9
,
1NNY
,
1NO6
,
1NWE
,
1NWL
,
1NZ7
,
1OEM
,
1OEO
,
1OES
,
1OET
,
1OEU
,
1OEV
,
1ONY
,
1ONZ
,
1PA1
,
1PH0
,
1PTT
,
1PTU
,
1PTV
,
1PTY
,
1PXH
,
1PYN
,
1Q1M
,
1Q6J
,
1Q6M
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00102 |
Y_phosphatase |
40 → 276 |
Protein-tyrosine phosphatase |
Domain |
|
Sequence |
|
Sequence length |
435 |
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.
|
|
Associated diseases
|
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 |
|
Duchenne muscular dystrophy |
Muscular Dystrophy, Duchenne |
rs128625226, rs128625227, rs128625228, rs128625229, rs2147483647, rs104894787, rs128625230, rs128626234, rs201366610, rs267606770, rs128626235, rs128626231, rs146071084, rs128626232, rs104894788, rs128626233, rs128626238, rs128626239, rs128626240, rs128626241, rs1556834513, rs128626242, rs128626243, rs128626244, rs128626245, rs128626246, rs128626247, rs128626248, rs128626249, rs128626250, rs128626251, rs128626252, rs128626253, rs128626254, rs104894790, rs104894797, rs5030730, rs1569528138, rs587776747, rs128627256, rs128627257, rs398122853, rs398123827, rs398123828, rs398123832, rs398123833, rs398123834, rs398123835, rs398123838, rs398123839, rs398123846, rs398123852, rs398123853, rs72468700, rs398123856, rs398123862, rs398123863, rs398123865, rs398123866, rs398123870, rs398123872, rs398123873, rs398123881, rs398123882, rs398123883, rs398123884, rs398123885, rs398123887, rs398123888, rs398123889, rs398123892, rs398123893, rs398123901, rs398123903, rs398123905, rs398123909, rs398123912, rs398123915, rs398123919, rs398123920, rs398123923, rs398123929, rs398123934, rs398123935, rs398123937, rs398123938, rs398123942, rs398123948, rs398123950, rs398123952, rs398123953, rs398123957, rs398123960, rs398123962, rs398123963, rs398123970, rs398123971, rs398123973, rs398123977, rs398123979, rs398123980, rs398123981, rs398123990, rs1064325, rs398123991, rs398123997, rs398123999, rs398124003, rs398124007, rs398124008, rs398124012, rs398124033, rs398124034, rs398124036, rs398124038, rs398124039, rs398124040, rs398124042, rs398124044, rs398124050, rs398124051, rs398124055, rs398124058, rs398124060, rs398124062, rs398124068, rs398124070, rs398124072, rs398124073, rs398124074, rs398124075, rs398124078, rs398124091, rs398124092, rs398124094, rs398124096, rs398124099, rs398124104, rs398124105, rs373286166, rs727503850, rs727503802, rs727503864, rs794726993, rs794727030, rs794727123, rs794727357, rs794727359, rs794727422, rs794727463, rs794727499, rs794727661, rs794727666, rs797044764, rs201361100, rs796065333, rs794727862, rs794727890, rs797045526, rs146880270, rs863224977, rs863224976, rs863224975, rs863225018, rs863225017, rs863225015, rs863225014, rs863225013, rs863225012, rs863225011, rs863225010, rs863225009, rs762394978, rs863225008, rs863225007, rs863225006, rs863225005, rs863225004, rs863225003, rs863225002, rs777864641, rs863225001, rs863225000, rs863224999, rs863224998, rs863224997, rs863224994, rs863224993, rs863224992, rs756949497, rs863224988, rs863224987, rs863224986, rs762860653, rs863224985, rs863224984, rs863224983, rs863224982, rs863224981, rs863224980, rs863224979, rs863224978, rs863224996, rs863224995, rs863224991, rs863224990, rs863224989, rs878854366, rs779739455, rs878854621, rs770845480, rs762250680, rs878854619, rs878854618, rs886039681, rs886039532, rs886039478, rs886039535, rs886039536, rs886039785, rs886041344, rs886042106, rs886042154, rs886042495, rs886042499, rs886042604, rs886042747, rs886042840, rs886042875, rs398124032, rs886042983, rs886043041, rs886043084, rs763936813, rs886043251, rs886043375, rs886043496, rs886043640, rs886043676, rs886043699, rs886043822, rs886043909, rs886043989, rs748769566, rs886044324, rs886044402, rs886044455, rs886044490, rs886044502, rs886044582, rs1057518207, rs1057518962, rs1057518692, rs1057520764, rs1556641290, rs1060502653, rs1064792968, rs1060502624, rs1060502621, rs765445866, rs1060502645, rs1064792967, rs1060502659, rs1060502620, rs1060502643, rs1060502641, rs1060502639, rs1060502636, rs1060502661, rs1060502635, rs1060502629, rs1060502644, rs72470513, rs1557079469, rs1060502626, rs1060502625, rs1060502630, rs1057524037, rs1060502633, rs1060502656, rs1060502648, rs1060502619, rs1060502646, rs1060502623, rs1060502632, rs1060502640, rs1557380496, rs1060502647, rs1060502637, rs1060502634, rs1060502615, rs1060502627, rs1557084128, rs1060502652, rs1064794569, rs1064793479, rs1064793986, rs1064793964, rs1556665303, rs753662330, rs1556790316, rs1556656184, rs1556764743, rs1556764753, rs1556806356, rs773643220, rs1556875180, rs1340365803, rs1556656851, rs1557316295, rs1556046080, rs1556256329, rs1556656487, rs1556962223, rs1556962571, rs1557011973, rs1557291170, rs1556930769, rs104894789, rs1556665052, rs1556917057, rs1557305645, rs182575709, rs1556656818, rs1557218076, rs1239018406, rs1557084067, rs1557300135, rs1556035795, rs1556037455, rs1556853039, rs1556880354, rs1557380616, rs1557047827, rs1557396600, rs1557374667, rs796523999, rs1557320151, rs1057517960, rs1557304860, rs770183212, rs1557218093, rs1557038061, rs1557320194, rs1233380601, rs1557294228, rs1557011929, rs1557322838, rs1057518284, rs1557291242, rs1557292678, rs1557322834, rs1557058415, rs1556780579, rs1556930579, rs1557369493, rs1556764934, rs1556962271, rs1557315928, rs1555998436, rs1556764922, rs1556656847, rs1557218131, rs1557369413, rs1557369991, rs1557374482, rs1055371114, rs1556040444, rs1557291229, rs1010666282, rs1556028034, rs1556929259, rs1556930839, rs1557303544, rs1557380685, rs1556802319, rs1556809704, rs1557058308, rs1557058350, rs1385794215, rs1556035817, rs1556503937, rs1556656456, rs1556764880, rs1556789913, rs1557322201, rs1557359217, rs1557362198, rs1556853298, rs1556875224, rs1556876346, rs1556852444, rs1569460607, rs1569530432, rs1569451994, rs1569452000, rs1569559106, rs144732570, rs1569273905, rs1569526122, rs1569562941, rs1569230406, rs1569559822, rs1569526579, rs1569528101, rs1569533965, rs1569546174, rs1569559110, rs1569559849, rs1569562936, rs1569562952, rs1057522454, rs149106712, rs1569469298, rs1569401103, rs1209389771, rs1569563678, rs1569560739, rs868688877, rs1569558953, rs1569230215, rs1569563751, rs1569565192, rs1569559204, rs1569186252, rs1569558906, rs1569533147, rs1569559097, rs1569564281, rs1569562466, rs1569169560, rs1429329309, rs1569460722, rs1569556943, rs1569420861, rs1569213903, rs374744331, rs1569463953, rs1569230293, rs1295394996, rs1602451773, rs1602145926, rs1602416457, rs886043597, rs1602728959, rs72466562, rs1602938385, rs1603222095, rs1603280511, rs1603452196, rs142500746, rs1254776844, rs1603513684, rs1603513697, rs1603618489, rs1603632245, rs1603632312, rs1603634298, rs1603634608, rs1603634744, rs1602169535, rs1602460062, rs1603432076, rs1603441550, rs1602766725, rs1603419076, rs1603447081, rs1603631757, rs1601809011, rs1602727611, rs1603222556, rs1602146767, rs1602337330, rs895755247, rs1602369798, rs1602409174, rs1602417503, rs1181271457, rs1602454605, rs1602454639, rs1602454747, rs1602455302, rs1602455747, rs1602456486, rs1602669026, rs1602695597, rs1602696519, rs1602730254, rs1602947628, rs1603253563, rs1601864055, rs1602056443, rs1602937974, rs1556656077, rs1603221854, rs1603222424, rs1603222574, rs1603222897, rs1603222922, rs1603223025, rs794727770, rs1603226023, rs1603264641, rs1603264659, rs1603264705, rs1603264731, rs1603280686, rs1603280745, rs1603280796, rs1603430178, rs1603430181, rs1603445277, rs1603445278, rs1603445283, rs1603445332, rs1603445344, rs1603452207, rs1603513680, rs1603513803, rs1603513817, rs1603513828, rs1603514271, rs1603514272, rs201818335, rs1603615883, rs1603628479, rs1603628482, rs1603628483, rs1603628485, rs1603628487, rs1603629988, rs1603630431, rs1603631225, rs1603631240, rs1603631241, rs1603631244, rs1603631367, rs1603631368, rs373428963, rs1603631705, rs1603631744, rs1603631752, rs1603631756, rs1603632117, rs1603632119, rs771425504, rs1216000876, rs1603632248, rs1603632309, rs1603632311, rs1603632314, rs1603632316, rs772220893, rs1603632322, rs1603632324, rs1603632326, rs1603633486, rs1603633541, rs1603633545, rs1339088514, rs398123943, rs1603633864, rs1603633868, rs1603634079, rs1569563740, rs1603634105, rs1603634199, rs1603634203, rs1603634206, rs1603634207, rs1603634299, rs1603634603, rs1603634604, rs1603634607, rs1603634609, rs747937552, rs1603634742, rs1603634743, rs1603634745, rs1603634746, rs1603634747, rs1603634748, rs1603635326, rs1603635331, rs1603635949, rs1603635950, rs1603635953, rs1603636537, rs1603636541, rs1601808288, rs1601808296, rs1601808326, rs1601808608, rs1601810667, rs1602467530, rs1602467590, rs1602467787, rs1602468968, rs1602469251, rs1602469384, rs1603137168, rs1603149954, rs1603150335, rs1603150993, rs374222301, rs1603151699, rs1603432059, rs794727863, rs1603437254, rs1603437272, rs1603441629, rs1603447057, rs1603447072, rs1602765633, rs1602766499, rs1602766531, rs1602766655, rs1403865104, rs1603419074, rs768892830, rs1603631365, rs1602765856, rs1602338283, rs1602360475, rs1603631219, rs1603634749, rs1602459252, rs2040217313, rs376745644, rs2040714340, rs2041309291, rs2044445392, rs2067953453, rs2068036881, rs2068038543, rs2078916448, rs2090513299, rs2094827204, rs2094864356, rs2095370524, rs1425702864, rs2097850041, rs2098390819, rs2042979418, rs2046036327, rs2052700227, rs2077781516, rs2080979223, rs2040711393, rs2097447247, rs2098280263, rs2098391032, rs2063781031, rs2080514041, rs2036834025, rs2063903818 |
30014611 |
Hyperinsulinism |
Hyperinsulinism |
rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180 |
28899902 |
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
28899902 |
Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
20075852, 10744717 |
Rett syndrome |
Rett Syndrome |
rs606231129, rs122460157, rs61749700, rs122460158, rs122460159, rs62641235, rs28934904, rs28934905, rs28934906, rs28934907, rs61750240, rs63094662, rs267608434, rs61751362, rs28934908, rs28935468, rs61748421, rs61749721, rs61748396, rs104894864, rs28935168, rs61749715, rs179363900, rs179363901, rs61749743, rs121913678, rs267606826, rs267606828, rs267606827, rs138747073, rs193922679, rs61751439, rs61748408, rs61749724, rs61749747, rs61750241, rs398124204, rs267608376, rs267608559, rs61754428, rs61751457, rs267608380, rs267608377, rs267608378, rs267608381, rs61752372, rs267608425, rs267608424, rs61752375, rs267608385, rs267608426, rs267608567, rs267608568, rs267608569, rs267608340, rs267608379, rs267608348, rs267608571, rs267608389, rs267608382, rs267608573, rs63749023, rs267608574, rs63749024, rs267608576, rs267608372, rs267608577, rs267608578, rs267608579, rs267608580, rs267608329, rs267608584, rs267608582, rs61754419, rs267608585, rs267608586, rs267608327, rs267608587, rs63749748, rs63583161, rs63749029, rs386134271, rs267608588, rs63009262, rs267608590, rs267608373, rs63749030, rs267608332, rs267608591, rs267608593, rs267608592, rs267608596, rs267608339, rs267608597, rs267608334, rs267608601, rs267608600, rs267608589, rs267608603, rs61752992, rs267608606, rs267608607, rs267608349, rs267608343, rs267608609, rs267608369, rs267608383, rs267608427, rs267608333, rs267608403, rs63749018, rs56268439, rs267608338, rs267608610, rs61753011, rs267608612, rs267608428, rs267608613, rs267608614, rs267608615, rs61753965, rs63749038, rs267608351, rs267608617, rs267608374, rs63749064, rs61754430, rs61753972, rs267608624, rs267608625, rs63749065, rs61753979, rs267608627, rs61754431, rs267608634, rs267608637, rs267608638, rs267608640, rs267608641, rs267608337, rs267608399, rs267608642, rs61754432, rs61754436, rs61754437, rs61754438, rs267608438, rs1557137871, rs61754441, rs63749009, rs267608442, rs267608443, rs267608444, rs267608445, rs267608446, rs267608405, rs61754448, rs61754421, rs267608449, rs61754452, rs61754453, rs61754455, rs63749010, rs61754456, rs61754457, rs61754458, rs267608452, rs61754459, rs267608398, rs61755761, rs63749008, rs61755762, rs267608455, rs61755763, rs267608457, rs267608387, rs267608469, rs61748383, rs61748384, rs267608470, rs61748389, rs267608471, rs61748390, rs61748391, rs61748393, rs267608475, rs267608476, rs61748395, rs61748398, rs61748399, rs61748400, rs62952161, rs61748402, rs61748403, rs61748404, rs61748406, rs61748407, rs61748410, rs61754424, rs267608483, rs267608482, rs267608484, rs61748411, rs267608485, rs267608486, rs61748415, rs61748416, rs61748417, rs61748418, rs267608487, rs267608488, rs267608489, rs61748420, rs61748425, rs267608416, rs61748428, rs61749702, rs61749703, rs267608495, rs267608496, rs61749707, rs61754425, rs61749708, rs61749709, rs267608417, rs61749717, rs61749718, rs267608503, rs267608506, rs267608507, rs61749726, rs61749727, rs61749728, rs61749729, rs267608386, rs62641234, rs267608510, rs61749734, rs267608513, rs267608514, rs61749736, rs61749739, rs63260260, rs61749741, rs61749744, rs267608518, rs267608519, rs61749749, rs267608520, rs61749750, rs1557136523, rs1557136549, rs61750225, rs61749752, rs267608521, rs61749751, rs61750232, rs267608523, rs61750235, rs63259763, rs267608524, rs61754426, rs267608525, rs267608526, rs61750238, rs62931162, rs267608529, rs61750242, rs63749012, rs267608530, rs61750247, rs61750249, rs267608531, rs61750256, rs267608535, rs61750259, rs267608536, rs267608538, rs61751361, rs61751364, rs267608540, rs267608541, rs61751367, rs62701461, rs267608543, rs267608544, rs61751373, rs61749723, rs267608548, rs61751440, rs267608551, rs61751441, rs61751443, rs61754427, rs61751444, rs61751449, rs61751450, rs61751456, rs267608558, rs267608623, rs267608433, rs267608643, rs267608395, rs267608644, rs62653623, rs62643608, rs267608646, rs62643614, rs61753251, rs267608453, rs267608468, rs267608493, rs267608505, rs61750250, rs267608412, rs267608411, rs267608463, rs267608458, rs267608464, rs267608465, rs267608430, rs267608650, rs267608657, rs267608474, rs267608479, rs1557135314, rs587783132, rs587783629, rs587783631, rs587783635, rs587783636, rs587783638, rs587783640, rs587783641, rs587783642, rs587783643, rs727503935, rs727505391, rs786204307, rs786204316, rs786205000, rs398124202, rs786205001, rs786205003, rs786205004, rs786205005, rs786204998, rs786205007, rs786205008, rs786205009, rs786205010, rs786205011, rs786204999, rs1557134378, rs1557134716, rs1557134770, rs1557134779, rs1557134923, rs1557135016, rs1557135076, rs1557135125, rs1557135128, rs1557135137, rs1557135197, rs1557135212, rs1557135213, rs1557135218, rs1557135225, rs1557135251, rs1557135268, rs1557135285, rs1557135295, rs1557135299, rs1557135300, rs1557135315, rs1557135338, rs1557135350, rs1557135400, rs786205020, rs1557135423, rs1557135426, rs1557135447, rs1557135461, rs1557135499, rs786205019, rs1557135541, rs1557135571, rs1557135575, rs1557135596, rs1557135603, rs1557135622, rs1557135670, rs1557135728, rs1557135788, rs1557135847, rs1557135893, rs1557135907, rs1557136013, rs1557136146, rs786205031, rs786205030, rs786205028, rs786205027, rs1557136493, rs786205025, rs786205049, rs786205048, rs786205047, rs786205042, rs786205043, rs786205045, rs786205038, rs786204983, rs786204984, rs786204986, rs786204988, rs786204989, rs786204990, rs786204992, rs786204966, rs786204968, rs786204969, rs786204970, rs786204972, rs786204975, rs786204976, rs786204981, rs1557134481, rs1557135110, rs786205895, rs786205892, rs796052474, rs796052462, rs796052463, rs796052464, rs1555321334, rs796052469, rs1557134720, rs1557135418, rs1557135666, rs797045695, rs797045694, rs797045693, rs869312700, rs878853312, rs879255530, rs767961672, rs1057516138, rs1057518165, rs1057517905, rs1057518718, rs1557135039, rs1557136374, rs1057519543, rs1057520663, rs1057520780, rs1064792899, rs1064792898, rs1060499620, rs1060499621, rs1557134621, rs1064793576, rs1064797104, rs1064797186, rs1557137675, rs1555321302, rs1555321337, rs1557135664, rs1557137042, rs922847767, rs1555321206, rs1555321301, rs1555321311, rs1555321294, rs1452295073, rs1555321237, rs1554504681, rs1555321351, rs1557135929, rs1555321382, rs1557150841, rs1555321345, rs1555321405, rs786205486, rs1555321380, rs1557135793, rs1555321353, rs1555321308, rs1557136332, rs1557136818, rs1557135346, rs1566445169, rs1566445489, rs764343290, rs1569548274, rs1569548428, rs1603307859, rs1603309190, rs1603310910, rs1603308287, rs1594384015, rs1603308358, rs1594382746, rs1594383704, rs1603307865, rs1603308963, rs1603309480, rs1603309620, rs1603341328, rs1594383798, rs1594384249, rs1603310755, rs1881788747, rs1240929961, rs886041744, rs1881816066, rs1881828200, rs2065919863, rs1881779084 |
26214522 |
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 |
17849003 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
B-cell lymphoma |
B-Cell Lymphomas |
|
24531327 |
Classical hodgkin lymphoma |
Mixed Cellularity Hodgkin Lymphoma, Lymphocyte Rich Classical Hodgkin Lymphoma, Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
24531327 |
Compensatory hyperinsulinemia |
Compensatory Hyperinsulinemia |
|
28899902 |
Endogenous hyperinsulinism |
Endogenous Hyperinsulinism |
|
28899902 |
Exogenous hyperinsulinism |
Exogenous Hyperinsulinism |
|
28899902 |
Hodgkin disease |
Hodgkin Disease |
|
24531327 |
Hodgkin lymphoma |
Adult Hodgkin Lymphoma |
rs387906223, rs56391007, rs121913527, rs747694886 |
24531327 |
Hodgkin lymphoma, lymphocyte depletion |
Hodgkin lymphoma, lymphocyte depletion |
|
24531327 |
Malignant mediastinal neoplasm |
Malignant tumor of mediastinum |
|
24531327 |
Mediastinal neoplasms |
Mediastinal Neoplasms |
|
24531327 |
|
|
|