IMPA1 (inositol monophosphatase 1)

Gene

• Entrez ID: 3612
• Gene name: Inositol monophosphatase 1
• Gene symbol: IMPA1
• Synonyms: IMP, IMPA, MRT59
• Chromosome: 8
• Chromosome location: 8q21.13
• Summary: This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519491	->GCCCA	Pathogenic	Frameshift variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT021823	hsa-miR-132-3p	Microarray	17612493
MIRT024884	hsa-miR-215-5p	Microarray	19074876
MIRT026629	hsa-miR-192-5p	Microarray	19074876
MIRT050020	hsa-miR-27a-3p	CLASH	23622248
MIRT044020	hsa-miR-365a-3p	CLASH	23622248
MIRT517934	hsa-miR-4438	PAR-CLIP	23446348
MIRT124241	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517933	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT517932	hsa-miR-548aj-5p	PAR-CLIP	23446348
MIRT517931	hsa-miR-548f-5p	PAR-CLIP	23446348
MIRT517930	hsa-miR-548g-5p	PAR-CLIP	23446348
MIRT517929	hsa-miR-548x-5p	PAR-CLIP	23446348
MIRT517928	hsa-miR-1468-3p	PAR-CLIP	23446348
MIRT517927	hsa-miR-4252	PAR-CLIP	23446348
MIRT517926	hsa-miR-5095	PAR-CLIP	23446348
MIRT517925	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517924	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517923	hsa-miR-548aw	PAR-CLIP	23446348
MIRT517934	hsa-miR-4438	PAR-CLIP	23446348
MIRT124241	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517933	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT517932	hsa-miR-548aj-5p	PAR-CLIP	23446348
MIRT517931	hsa-miR-548f-5p	PAR-CLIP	23446348
MIRT517930	hsa-miR-548g-5p	PAR-CLIP	23446348
MIRT517929	hsa-miR-548x-5p	PAR-CLIP	23446348
MIRT517928	hsa-miR-1468-3p	PAR-CLIP	23446348
MIRT517927	hsa-miR-4252	PAR-CLIP	23446348
MIRT517926	hsa-miR-5095	PAR-CLIP	23446348
MIRT517925	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517924	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517923	hsa-miR-548aw	PAR-CLIP	23446348
MIRT1065730	hsa-miR-101	CLIP-seq
MIRT1065731	hsa-miR-1225-3p	CLIP-seq
MIRT1065732	hsa-miR-1233	CLIP-seq
MIRT1065733	hsa-miR-1245b-3p	CLIP-seq
MIRT1065734	hsa-miR-1283	CLIP-seq
MIRT1065735	hsa-miR-144	CLIP-seq
MIRT1065736	hsa-miR-1827	CLIP-seq
MIRT1065737	hsa-miR-2052	CLIP-seq
MIRT1065738	hsa-miR-24	CLIP-seq
MIRT1065739	hsa-miR-297	CLIP-seq
MIRT1065740	hsa-miR-298	CLIP-seq
MIRT1065741	hsa-miR-3120-5p	CLIP-seq
MIRT1065742	hsa-miR-3122	CLIP-seq
MIRT1065743	hsa-miR-3154	CLIP-seq
MIRT1065744	hsa-miR-3162-3p	CLIP-seq
MIRT1065745	hsa-miR-3200-3p	CLIP-seq
MIRT1065746	hsa-miR-34b	CLIP-seq
MIRT1065747	hsa-miR-3607-3p	CLIP-seq
MIRT1065748	hsa-miR-3614-5p	CLIP-seq
MIRT1065749	hsa-miR-361-5p	CLIP-seq
MIRT1065750	hsa-miR-3672	CLIP-seq
MIRT1065751	hsa-miR-3686	CLIP-seq
MIRT1065752	hsa-miR-3689a-3p	CLIP-seq
MIRT1065753	hsa-miR-3689c	CLIP-seq
MIRT1065754	hsa-miR-3713	CLIP-seq
MIRT1065755	hsa-miR-3913-5p	CLIP-seq
MIRT1065756	hsa-miR-3924	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT1065758	hsa-miR-4274	CLIP-seq
MIRT1065759	hsa-miR-4284	CLIP-seq
MIRT1065760	hsa-miR-4291	CLIP-seq
MIRT1065761	hsa-miR-4307	CLIP-seq
MIRT1065762	hsa-miR-4310	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT1065765	hsa-miR-4484	CLIP-seq
MIRT1065766	hsa-miR-4519	CLIP-seq
MIRT1065767	hsa-miR-452	CLIP-seq
MIRT1065768	hsa-miR-4649-3p	CLIP-seq
MIRT1065769	hsa-miR-4668-3p	CLIP-seq
MIRT1065770	hsa-miR-4676-3p	CLIP-seq
MIRT1065771	hsa-miR-4684-5p	CLIP-seq
MIRT1065772	hsa-miR-4699-5p	CLIP-seq
MIRT1065773	hsa-miR-4728-3p	CLIP-seq
MIRT1065774	hsa-miR-4728-5p	CLIP-seq
MIRT1065775	hsa-miR-4778-5p	CLIP-seq
MIRT1065776	hsa-miR-4790-3p	CLIP-seq
MIRT1065777	hsa-miR-4793-5p	CLIP-seq
MIRT1065778	hsa-miR-483-3p	CLIP-seq
MIRT1065779	hsa-miR-501-5p	CLIP-seq
MIRT1065780	hsa-miR-548ae	CLIP-seq
MIRT1065781	hsa-miR-548aj	CLIP-seq
MIRT1065782	hsa-miR-548am	CLIP-seq
MIRT1065783	hsa-miR-548an	CLIP-seq
MIRT1065784	hsa-miR-548k	CLIP-seq
MIRT1065785	hsa-miR-548n	CLIP-seq
MIRT1065786	hsa-miR-548p	CLIP-seq
MIRT1065787	hsa-miR-548x	CLIP-seq
MIRT1065788	hsa-miR-567	CLIP-seq
MIRT1065789	hsa-miR-570	CLIP-seq
MIRT1065790	hsa-miR-583	CLIP-seq
MIRT1065791	hsa-miR-593	CLIP-seq
MIRT1065792	hsa-miR-944	CLIP-seq
MIRT2015627	hsa-miR-2114	CLIP-seq
MIRT2015628	hsa-miR-3664-3p	CLIP-seq
MIRT2015629	hsa-miR-4433	CLIP-seq
MIRT2015630	hsa-miR-4459	CLIP-seq
MIRT2015631	hsa-miR-4768-3p	CLIP-seq
MIRT2015632	hsa-miR-510	CLIP-seq
MIRT2015633	hsa-miR-512-5p	CLIP-seq
MIRT1065731	hsa-miR-1225-3p	CLIP-seq
MIRT1065732	hsa-miR-1233	CLIP-seq
MIRT2247980	hsa-miR-140-3p	CLIP-seq
MIRT1065736	hsa-miR-1827	CLIP-seq
MIRT2247981	hsa-miR-203	CLIP-seq
MIRT2247982	hsa-miR-3130-3p	CLIP-seq
MIRT2247983	hsa-miR-3148	CLIP-seq
MIRT1065743	hsa-miR-3154	CLIP-seq
MIRT2247984	hsa-miR-3200-5p	CLIP-seq
MIRT1065748	hsa-miR-3614-5p	CLIP-seq
MIRT2247985	hsa-miR-3622b-5p	CLIP-seq
MIRT2247986	hsa-miR-3688-3p	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT2247987	hsa-miR-4282	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT2015630	hsa-miR-4459	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT2247988	hsa-miR-4502	CLIP-seq
MIRT2247989	hsa-miR-4639-5p	CLIP-seq
MIRT1065768	hsa-miR-4649-3p	CLIP-seq
MIRT2247990	hsa-miR-4666-5p	CLIP-seq
MIRT2247991	hsa-miR-4722-5p	CLIP-seq
MIRT2247992	hsa-miR-485-5p	CLIP-seq
MIRT2247993	hsa-miR-518a-5p	CLIP-seq
MIRT2247994	hsa-miR-527	CLIP-seq
MIRT2247995	hsa-miR-548c-3p	CLIP-seq
MIRT1065789	hsa-miR-570	CLIP-seq
MIRT2247996	hsa-miR-610	CLIP-seq
MIRT2247997	hsa-miR-767-5p	CLIP-seq
MIRT2247998	hsa-miR-940	CLIP-seq
MIRT1065731	hsa-miR-1225-3p	CLIP-seq
MIRT1065732	hsa-miR-1233	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT1065776	hsa-miR-4790-3p	CLIP-seq
MIRT1065743	hsa-miR-3154	CLIP-seq
MIRT1065747	hsa-miR-3607-3p	CLIP-seq
MIRT1065751	hsa-miR-3686	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT1065768	hsa-miR-4649-3p	CLIP-seq
MIRT2551720	hsa-miR-1276	CLIP-seq
MIRT2551721	hsa-miR-1285	CLIP-seq
MIRT2247981	hsa-miR-203	CLIP-seq
MIRT1065737	hsa-miR-2052	CLIP-seq
MIRT2551722	hsa-miR-28-3p	CLIP-seq
MIRT1065740	hsa-miR-298	CLIP-seq
MIRT2551723	hsa-miR-3140-5p	CLIP-seq
MIRT2247983	hsa-miR-3148	CLIP-seq
MIRT2551724	hsa-miR-3158-5p	CLIP-seq
MIRT2551725	hsa-miR-3187-5p	CLIP-seq
MIRT2247984	hsa-miR-3200-5p	CLIP-seq
MIRT2247985	hsa-miR-3622b-5p	CLIP-seq
MIRT2551726	hsa-miR-365	CLIP-seq
MIRT2551727	hsa-miR-3941	CLIP-seq
MIRT2551728	hsa-miR-3978	CLIP-seq
MIRT2247987	hsa-miR-4282	CLIP-seq
MIRT2551729	hsa-miR-4292	CLIP-seq
MIRT1065761	hsa-miR-4307	CLIP-seq
MIRT2551730	hsa-miR-4311	CLIP-seq
MIRT2551731	hsa-miR-4418	CLIP-seq
MIRT2551732	hsa-miR-4420	CLIP-seq
MIRT2551733	hsa-miR-4422	CLIP-seq
MIRT2247988	hsa-miR-4502	CLIP-seq
MIRT1065767	hsa-miR-452	CLIP-seq
MIRT2551734	hsa-miR-466	CLIP-seq
MIRT2551735	hsa-miR-4672	CLIP-seq
MIRT1065770	hsa-miR-4676-3p	CLIP-seq
MIRT2551736	hsa-miR-4725-5p	CLIP-seq
MIRT2551737	hsa-miR-4731-3p	CLIP-seq
MIRT2551738	hsa-miR-4738-3p	CLIP-seq
MIRT2551739	hsa-miR-4744	CLIP-seq
MIRT2551740	hsa-miR-4801	CLIP-seq
MIRT2551741	hsa-miR-504	CLIP-seq
MIRT2551742	hsa-miR-509-3-5p	CLIP-seq
MIRT2551743	hsa-miR-509-5p	CLIP-seq
MIRT2551744	hsa-miR-539	CLIP-seq
MIRT2247995	hsa-miR-548c-3p	CLIP-seq
MIRT2551745	hsa-miR-577	CLIP-seq
MIRT1065790	hsa-miR-583	CLIP-seq
MIRT2551746	hsa-miR-612	CLIP-seq
MIRT2551747	hsa-miR-630	CLIP-seq
MIRT2247981	hsa-miR-203	CLIP-seq
MIRT1065737	hsa-miR-2052	CLIP-seq
MIRT2551722	hsa-miR-28-3p	CLIP-seq
MIRT1065740	hsa-miR-298	CLIP-seq
MIRT2247983	hsa-miR-3148	CLIP-seq
MIRT1065743	hsa-miR-3154	CLIP-seq
MIRT2551724	hsa-miR-3158-5p	CLIP-seq
MIRT2247984	hsa-miR-3200-5p	CLIP-seq
MIRT2247985	hsa-miR-3622b-5p	CLIP-seq
MIRT2551726	hsa-miR-365	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT2551727	hsa-miR-3941	CLIP-seq
MIRT2551728	hsa-miR-3978	CLIP-seq
MIRT2247987	hsa-miR-4282	CLIP-seq
MIRT2551731	hsa-miR-4418	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT2551732	hsa-miR-4420	CLIP-seq
MIRT2551733	hsa-miR-4422	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT2247988	hsa-miR-4502	CLIP-seq
MIRT1065767	hsa-miR-452	CLIP-seq
MIRT1065768	hsa-miR-4649-3p	CLIP-seq
MIRT2551734	hsa-miR-466	CLIP-seq
MIRT2551735	hsa-miR-4672	CLIP-seq
MIRT1065770	hsa-miR-4676-3p	CLIP-seq
MIRT2551737	hsa-miR-4731-3p	CLIP-seq
MIRT2551740	hsa-miR-4801	CLIP-seq
MIRT2551742	hsa-miR-509-3-5p	CLIP-seq
MIRT2551743	hsa-miR-509-5p	CLIP-seq
MIRT2551745	hsa-miR-577	CLIP-seq
MIRT2551747	hsa-miR-630	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	9462881, 23027737
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IDA	1377913, 17068342
GO:0005829	Component	Cytosol	TAS
GO:0006020	Process	Inositol metabolic process	IBA	21873635
GO:0006021	Process	Inositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IMP	1377913
GO:0006796	Process	Phosphate-containing compound metabolic process	IMP	1377913
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007165	Process	Signal transduction	IMP	1377913
GO:0008934	Function	Inositol monophosphate 1-phosphatase activity	IBA	21873635
GO:0008934	Function	Inositol monophosphate 1-phosphatase activity	IDA	17068342
GO:0008934	Function	Inositol monophosphate 1-phosphatase activity	IMP	1377913
GO:0030145	Function	Manganese ion binding	IDA	9462881
GO:0031403	Function	Lithium ion binding	IDA	9462881
GO:0042802	Function	Identical protein binding	IPI	16189514, 19447967, 21516116, 25416956
GO:0042803	Function	Protein homodimerization activity	IDA	17068342
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0046854	Process	Phosphatidylinositol phosphorylation	IEA
GO:0046855	Process	Inositol phosphate dephosphorylation	IBA	21873635
GO:0046855	Process	Inositol phosphate dephosphorylation	IDA	9462881, 17068342
GO:0052832	Function	Inositol monophosphate 3-phosphatase activity	IEA
GO:0052833	Function	Inositol monophosphate 4-phosphatase activity	IEA
GO:0052834	Function	Inositol monophosphate phosphatase activity	IDA	9462881

Other IDs

• MIM: 602064
• HGNC: 6050
• e!Ensembl: ENSG00000133731

Protein

• UniProt ID: P29218
• Protein name: Inositol monophosphatase 1 (IMP 1) (IMPase 1) (EC 3.1.3.25) (D-galactose 1-phosphate phosphatase) (EC 3.1.3.94) (Inositol-1(or 4)-monophosphatase 1) (Lithium-sensitive myo-inositol monophosphatase A1)
• Protein function: Phosphatase involved in the dephosphorylation of myo-inositol monophosphates to generate myo-inositol (PubMed:17068342, PubMed:8718889, PubMed:9462881). Is also able to dephosphorylate scyllo-inositol-phosphate, myo-inositol 1,4-diphosphate, scy
• PDB: 1AWB, 1IMA, 1IMB, 1IMC, 1IMD, 1IME, 1IMF, 2HHM, 4AS4, 6GIU, 6GJ0, 6ZK0, 7VCE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00459	Inositol_P	5 → 270	Inositol monophosphatase family	Family

• Sequence:

  MADPWQECMDYAVTLARQAGEVVCEAIKNEMNVMLKSSPVDLVTATDQKVEKMLISSIKE
  KYPSHSFIGEESVAAGEKSILTDNPTWIIDPIDGTTNFVHRFPFVAVSIGFAVNKKIEFG
  VVYSCVEGKMYTARKGKGAFCNGQKLQVSQQEDITKSLLVTELGSSRTPETVRMVLSNME
  KLFCIPVHGIRSVGTAAVNMCLVATGGADAYYEMGIHCWDVAGAGIIVTEAGGVLMDVTG
  GPFDLMSRRVIAANNRILAERIAKEIQVIPLQRDDED

• Sequence length: 277

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system

Reactome:

Synthesis of IP2, IP, and Ins in the cytosol

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59	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
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	17460611

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		20153384, 9322233
Clonic seizures	Clonic Seizures		17460611
Hypotonic seizures	Epileptic drop attack		17460611
Jacksonian seizure	Jacksonian Seizure		17460611
Paranoia	Paranoia