CERS1 (ceramide synthase 1)

Gene

• Entrez ID: 10715
• Gene name: Ceramide synthase 1
• Gene symbol: CERS1
• Synonyms (NCBI Gene): EPM8, GDF-1, GDF1, LAG1, LASS1, UOG1
• Disease Acronyms (UniProt): EPM8
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049351	hsa-miR-92a-3p	CLASH	23622248
MIRT048708	hsa-miR-99a-5p	CLASH	23622248
MIRT037949	hsa-miR-505-5p	CLASH	23622248
MIRT453210	hsa-miR-6784-5p	HITS-CLIP	23706177
MIRT453209	hsa-miR-4508	HITS-CLIP	23706177
MIRT453208	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT453207	hsa-miR-6829-5p	HITS-CLIP	23706177
MIRT453206	hsa-miR-185-3p	HITS-CLIP	23706177
MIRT453210	hsa-miR-6784-5p	HITS-CLIP	23706177
MIRT453209	hsa-miR-4508	HITS-CLIP	23706177
MIRT453208	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT453207	hsa-miR-6829-5p	HITS-CLIP	23706177
MIRT453206	hsa-miR-185-3p	HITS-CLIP	23706177
MIRT573603	hsa-miR-939-3p	PAR-CLIP	20371350
MIRT573601	hsa-miR-6852-5p	PAR-CLIP	20371350
MIRT573602	hsa-miR-6742-3p	PAR-CLIP	20371350
MIRT573600	hsa-miR-1204	PAR-CLIP	20371350
MIRT573599	hsa-miR-637	PAR-CLIP	20371350
MIRT573597	hsa-miR-4743-5p	PAR-CLIP	20371350
MIRT573598	hsa-miR-4471	PAR-CLIP	20371350
MIRT573596	hsa-miR-8059	PAR-CLIP	20371350
MIRT573595	hsa-miR-1268a	PAR-CLIP	20371350
MIRT573593	hsa-miR-1268b	PAR-CLIP	20371350
MIRT573594	hsa-miR-1237-5p	PAR-CLIP	20371350
MIRT573592	hsa-miR-4488	PAR-CLIP	20371350
MIRT573591	hsa-miR-4697-5p	PAR-CLIP	20371350
MIRT573589	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT573590	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT573588	hsa-miR-328-5p	PAR-CLIP	20371350
MIRT573587	hsa-miR-6885-5p	PAR-CLIP	20371350
MIRT573586	hsa-miR-1343-3p	PAR-CLIP	20371350
MIRT573585	hsa-miR-6783-3p	PAR-CLIP	20371350
MIRT573583	hsa-miR-7109-5p	PAR-CLIP	20371350
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	20371350
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	20371350
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	24398324
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	24398324
MIRT453206	hsa-miR-185-3p	PAR-CLIP	24398324
MIRT486787	hsa-miR-196b-3p	PAR-CLIP	23592263
MIRT486785	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT486786	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT486784	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT453220	hsa-miR-6895-5p	PAR-CLIP	23592263
MIRT453219	hsa-miR-4459	PAR-CLIP	23592263
MIRT453218	hsa-miR-3918	PAR-CLIP	23592263
MIRT453217	hsa-miR-665	PAR-CLIP	23592263
MIRT453216	hsa-miR-6134	PAR-CLIP	23592263
MIRT453214	hsa-miR-765	PAR-CLIP	23592263
MIRT453215	hsa-miR-3689d	PAR-CLIP	23592263
MIRT453213	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT453212	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT453211	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT453210	hsa-miR-6784-5p	PAR-CLIP	23592263
MIRT453209	hsa-miR-4508	PAR-CLIP	23592263
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	23592263
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	23592263
MIRT453206	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT453210	hsa-miR-6784-5p	HITS-CLIP	23706177
MIRT453209	hsa-miR-4508	HITS-CLIP	23706177
MIRT453208	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT453207	hsa-miR-6829-5p	HITS-CLIP	23706177
MIRT453206	hsa-miR-185-3p	HITS-CLIP	23706177
MIRT453210	hsa-miR-6784-5p	HITS-CLIP	23706177
MIRT453209	hsa-miR-4508	HITS-CLIP	23706177
MIRT453208	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT453207	hsa-miR-6829-5p	HITS-CLIP	23706177
MIRT453206	hsa-miR-185-3p	HITS-CLIP	23706177
MIRT573603	hsa-miR-939-3p	PAR-CLIP	20371350
MIRT573601	hsa-miR-6852-5p	PAR-CLIP	20371350
MIRT573602	hsa-miR-6742-3p	PAR-CLIP	20371350
MIRT573600	hsa-miR-1204	PAR-CLIP	20371350
MIRT573599	hsa-miR-637	PAR-CLIP	20371350
MIRT573597	hsa-miR-4743-5p	PAR-CLIP	20371350
MIRT573598	hsa-miR-4471	PAR-CLIP	20371350
MIRT573596	hsa-miR-8059	PAR-CLIP	20371350
MIRT573595	hsa-miR-1268a	PAR-CLIP	20371350
MIRT573593	hsa-miR-1268b	PAR-CLIP	20371350
MIRT573594	hsa-miR-1237-5p	PAR-CLIP	20371350
MIRT573592	hsa-miR-4488	PAR-CLIP	20371350
MIRT573591	hsa-miR-4697-5p	PAR-CLIP	20371350
MIRT573589	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT573590	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT573588	hsa-miR-328-5p	PAR-CLIP	20371350
MIRT573587	hsa-miR-6885-5p	PAR-CLIP	20371350
MIRT573586	hsa-miR-1343-3p	PAR-CLIP	20371350
MIRT573585	hsa-miR-6783-3p	PAR-CLIP	20371350
MIRT573583	hsa-miR-7109-5p	PAR-CLIP	20371350
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	20371350
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	20371350
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	24398324
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	24398324
MIRT453206	hsa-miR-185-3p	PAR-CLIP	24398324
MIRT486787	hsa-miR-196b-3p	PAR-CLIP	23592263
MIRT486785	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT486786	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT486784	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT453220	hsa-miR-6895-5p	PAR-CLIP	23592263
MIRT453219	hsa-miR-4459	PAR-CLIP	23592263
MIRT453218	hsa-miR-3918	PAR-CLIP	23592263
MIRT453217	hsa-miR-665	PAR-CLIP	23592263
MIRT453216	hsa-miR-6134	PAR-CLIP	23592263
MIRT453214	hsa-miR-765	PAR-CLIP	23592263
MIRT453215	hsa-miR-3689d	PAR-CLIP	23592263
MIRT453213	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT453212	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT453211	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT453210	hsa-miR-6784-5p	PAR-CLIP	23592263
MIRT453209	hsa-miR-4508	PAR-CLIP	23592263
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	23592263
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	23592263
MIRT453206	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT886792	hsa-miR-1255a	CLIP-seq
MIRT886793	hsa-miR-1255b	CLIP-seq
MIRT886794	hsa-miR-1827	CLIP-seq
MIRT886795	hsa-miR-1908	CLIP-seq
MIRT886796	hsa-miR-1915	CLIP-seq
MIRT886797	hsa-miR-3180	CLIP-seq
MIRT886798	hsa-miR-3180-3p	CLIP-seq
MIRT886799	hsa-miR-3184	CLIP-seq
MIRT886800	hsa-miR-3196	CLIP-seq
MIRT886801	hsa-miR-423-5p	CLIP-seq
MIRT886802	hsa-miR-4726-3p	CLIP-seq
MIRT886803	hsa-miR-615-5p	CLIP-seq
MIRT886804	hsa-miR-663	CLIP-seq
MIRT886805	hsa-miR-940	CLIP-seq
MIRT886806	hsa-miR-103a	CLIP-seq
MIRT886807	hsa-miR-107	CLIP-seq
MIRT886808	hsa-miR-1208	CLIP-seq
MIRT886809	hsa-miR-1265	CLIP-seq
MIRT886810	hsa-miR-1275	CLIP-seq
MIRT886811	hsa-miR-1307	CLIP-seq
MIRT886812	hsa-miR-137	CLIP-seq
MIRT886813	hsa-miR-193a-3p	CLIP-seq
MIRT886814	hsa-miR-193b	CLIP-seq
MIRT886815	hsa-miR-205	CLIP-seq
MIRT886816	hsa-miR-2052	CLIP-seq
MIRT886817	hsa-miR-25	CLIP-seq
MIRT886818	hsa-miR-3127-5p	CLIP-seq
MIRT886819	hsa-miR-3198	CLIP-seq
MIRT886820	hsa-miR-32	CLIP-seq
MIRT886821	hsa-miR-363	CLIP-seq
MIRT886822	hsa-miR-367	CLIP-seq
MIRT886823	hsa-miR-4257	CLIP-seq
MIRT886824	hsa-miR-4309	CLIP-seq
MIRT886825	hsa-miR-4421	CLIP-seq
MIRT886826	hsa-miR-4638-5p	CLIP-seq
MIRT886827	hsa-miR-4665-5p	CLIP-seq
MIRT886828	hsa-miR-4701-5p	CLIP-seq
MIRT886829	hsa-miR-486-3p	CLIP-seq
MIRT886830	hsa-miR-588	CLIP-seq
MIRT886831	hsa-miR-593	CLIP-seq
MIRT886832	hsa-miR-892b	CLIP-seq
MIRT886833	hsa-miR-92a	CLIP-seq
MIRT886834	hsa-miR-92b	CLIP-seq
MIRT886799	hsa-miR-3184	CLIP-seq
MIRT886801	hsa-miR-423-5p	CLIP-seq
MIRT1963004	hsa-miR-4743	CLIP-seq
MIRT1963005	hsa-miR-939	CLIP-seq
MIRT886813	hsa-miR-193a-3p	CLIP-seq
MIRT886814	hsa-miR-193b	CLIP-seq
MIRT886815	hsa-miR-205	CLIP-seq
MIRT886818	hsa-miR-3127-5p	CLIP-seq
MIRT886825	hsa-miR-4421	CLIP-seq
MIRT886828	hsa-miR-4701-5p	CLIP-seq
MIRT886830	hsa-miR-588	CLIP-seq
MIRT886832	hsa-miR-892b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	17699106, 19800881, 24782409
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0016020	Component	Membrane	TAS	12869556
GO:0016021	Component	Integral component of membrane	IEA
GO:0016410	Function	N-acyltransferase activity	IBA	21873635
GO:0030148	Process	Sphingolipid biosynthetic process	IDA	12105227
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0035690	Process	Cellular response to drug	IDA	19800881
GO:0036146	Process	Cellular response to mycotoxin	IDA	12105227
GO:0043231	Component	Intracellular membrane-bounded organelle	ISS
GO:0046513	Process	Ceramide biosynthetic process	IBA	21873635
GO:0046513	Process	Ceramide biosynthetic process	IDA	12105227, 12869556, 15823095, 17548428, 18541923, 24782409
GO:0046513	Process	Ceramide biosynthetic process	ISS
GO:0050291	Function	Sphingosine N-acyltransferase activity	IBA	21873635
GO:0050291	Function	Sphingosine N-acyltransferase activity	IDA	24782409
GO:0050291	Function	Sphingosine N-acyltransferase activity	ISS
GO:0051974	Process	Negative regulation of telomerase activity	IDA	17548428
GO:0071492	Process	Cellular response to UV-A	IDA	19800881
GO:0072721	Process	Cellular response to dithiothreitol	IDA	19800881

Other IDs

• MIM: 606919
• HGNC: 14253
• e!Ensembl: ENSG00000223802

Protein

• UniProt ID: P27544
• Protein name: Ceramide synthase 1 (CerS1) (LAG1 longevity assurance homolog 1) (Longevity assurance gene 1 protein homolog 1) (Protein UOG-1) (Sphingoid base N-stearoyltransferase CERS1) (EC 2.3.1.299)
• Protein function: Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) (PubMed:17977534, PubMed:23530041, PubMed:26887952, PubMed:31916624). N-ac
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03798	TRAM_LAG1_CLN8	98 → 304	TLC domain	Domain

• Sequence:

  MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPEL
  LLLALGALGWTALRSAATARLFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLL
  FGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVVML
  LHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAA
  DLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFL
  YIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAEKPLRNGLVKDKRF

• Sequence length: 350

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway

Reactome:

Sphingolipid de novo biosynthesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Action myoclonus-renal failure syndrome	Action Myoclonus-Renal Failure Syndrome	rs727502772, rs727502773, rs121909118, rs121909119, rs727502781, rs727502782, rs200053119, rs886041078, rs886041077, rs886041076, rs886041075, rs995674389, rs1553948516, rs1578733075
Congenital heart defects	Congenital Heart Defects, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049
Dentatorubral pallidoluysian atrophy	Dentatorubral-Pallidoluysian Atrophy	rs60216939
Double outlet right ventricle	Double Outlet Right Ventricle	rs397514520, rs397514521
Heterotaxia	Heterotaxy Syndrome	rs200321595, rs775946081, rs1060501464, rs1560086701	28991257, 20413652, 26633542
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myoclonic epilepsy	Familial Progressive Myoclonic Epilepsy, Myoclonic Epilepsies, Progressive, EPILEPSY, PROGRESSIVE MYOCLONIC, 8	rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615	19243074, 24782409
Progressive myoclonic epilepsy	Progressive myoclonic epilepsy type 8	rs267607199, rs104893950, rs137852917, rs137852915, rs137852916, rs104893955, rs727502773, rs121909118, rs147484110, rs74315442, rs387906881, rs387907246, rs727502785, rs387907260, rs387907261, rs387907262, rs387907263, rs796943858, rs545986367, rs727502818, rs200024180, rs200053119, rs797045143, rs863223401, rs797045065, rs141554661, rs886041078, rs886041076, rs886041075, rs781291421, rs750811871, rs746855352, rs1554263320, rs187930476, rs1085307785, rs1554991378, rs1554397774, rs1554397834, rs1568177307, rs1565162623, rs1569006250, rs561672108, rs1590088831, rs1380954046, rs1601855887, rs1590106815, rs747676224, rs1776817138, rs1786631768, rs776869841
Seizure	Tonic - clonic seizures	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
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288
Transposition of great vessels	Transposition of Great Vessels	rs869312707, rs1555246154, rs1565995034, rs1565995146, rs1029377279, rs1565997261, rs1566010195, rs1566005476, rs1870202051

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Associate	25724183
Coronary Artery Disease	Associate	37298446
Endometriosis	Associate	35992117
Epileptic Encephalopathy Early Infantile 3	Associate	33798445
Mitochondrial Diseases	Associate	29229477
Myoclonic Epilepsies Progressive	Associate	33798445
Neoplasm Metastasis	Associate	22180294
Neoplasms	Associate	22180294, 22922758
Squamous Cell Carcinoma of Head and Neck	Associate	17619081, 22753704
Squamous Cell Carcinoma of Head and Neck	Inhibit	19723703