STT3A (STT3 oligosaccharyltransferase complex catalytic subunit A)

Gene

• Entrez ID: 3703
• Gene name: STT3 oligosaccharyltransferase complex catalytic subunit A
• Gene symbol: STT3A
• Synonyms (NCBI Gene): CDG1WAD, CDG1WAR, ITM1, STT3-A, TMC
• Disease Acronyms (UniProt): CDG1WAD, CDG1WAR
• Chromosome: 11
• Chromosome location: 11q24.2
• Summary: The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a sim

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777216	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022920	hsa-miR-124-3p	Microarray	18668037
MIRT047614	hsa-miR-10a-5p	CLASH	23622248
MIRT047423	hsa-miR-10b-5p	CLASH	23622248
MIRT043817	hsa-miR-328-3p	CLASH	23622248
MIRT042092	hsa-miR-484	CLASH	23622248
MIRT653032	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT439516	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT439515	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT439516	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT439515	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT653032	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT1399910	hsa-miR-1200	CLIP-seq
MIRT1399911	hsa-miR-148a	CLIP-seq
MIRT1399912	hsa-miR-148b	CLIP-seq
MIRT1399913	hsa-miR-152	CLIP-seq
MIRT1399914	hsa-miR-3074-5p	CLIP-seq
MIRT1399915	hsa-miR-3136-3p	CLIP-seq
MIRT1399916	hsa-miR-328	CLIP-seq
MIRT1399917	hsa-miR-4690-3p	CLIP-seq
MIRT1399918	hsa-miR-548c-3p	CLIP-seq
MIRT1399919	hsa-miR-579	CLIP-seq
MIRT2119902	hsa-miR-1323	CLIP-seq
MIRT2119903	hsa-miR-145	CLIP-seq
MIRT2119904	hsa-miR-425	CLIP-seq
MIRT2119905	hsa-miR-4328	CLIP-seq
MIRT2119906	hsa-miR-4502	CLIP-seq
MIRT2119907	hsa-miR-4762-3p	CLIP-seq
MIRT2119908	hsa-miR-518a-5p	CLIP-seq
MIRT2119909	hsa-miR-527	CLIP-seq
MIRT2119910	hsa-miR-548o	CLIP-seq
MIRT1399910	hsa-miR-1200	CLIP-seq
MIRT2635743	hsa-miR-1237	CLIP-seq
MIRT2635744	hsa-miR-124	CLIP-seq
MIRT2635745	hsa-miR-1248	CLIP-seq
MIRT2635746	hsa-miR-1298	CLIP-seq
MIRT2635747	hsa-miR-1321	CLIP-seq
MIRT2119902	hsa-miR-1323	CLIP-seq
MIRT2119903	hsa-miR-145	CLIP-seq
MIRT2635748	hsa-miR-188-3p	CLIP-seq
MIRT2635749	hsa-miR-2116	CLIP-seq
MIRT2635750	hsa-miR-217	CLIP-seq
MIRT2635751	hsa-miR-219-2-3p	CLIP-seq
MIRT2635752	hsa-miR-2909	CLIP-seq
MIRT2635753	hsa-miR-2964a-3p	CLIP-seq
MIRT1399914	hsa-miR-3074-5p	CLIP-seq
MIRT2635754	hsa-miR-3120-5p	CLIP-seq
MIRT2635755	hsa-miR-3123	CLIP-seq
MIRT2635756	hsa-miR-3128	CLIP-seq
MIRT1399915	hsa-miR-3136-3p	CLIP-seq
MIRT2635757	hsa-miR-3162-5p	CLIP-seq
MIRT2635758	hsa-miR-3163	CLIP-seq
MIRT2635759	hsa-miR-3180-5p	CLIP-seq
MIRT2635760	hsa-miR-3182	CLIP-seq
MIRT1399916	hsa-miR-328	CLIP-seq
MIRT2635761	hsa-miR-340	CLIP-seq
MIRT2635762	hsa-miR-3607-3p	CLIP-seq
MIRT2635763	hsa-miR-3663-5p	CLIP-seq
MIRT2635764	hsa-miR-3686	CLIP-seq
MIRT2635765	hsa-miR-375	CLIP-seq
MIRT2635766	hsa-miR-4273	CLIP-seq
MIRT2635767	hsa-miR-4281	CLIP-seq
MIRT2635768	hsa-miR-4282	CLIP-seq
MIRT2635769	hsa-miR-4300	CLIP-seq
MIRT2119905	hsa-miR-4328	CLIP-seq
MIRT2635770	hsa-miR-4427	CLIP-seq
MIRT2635771	hsa-miR-4461	CLIP-seq
MIRT2635772	hsa-miR-448	CLIP-seq
MIRT2119906	hsa-miR-4502	CLIP-seq
MIRT2635773	hsa-miR-4527	CLIP-seq
MIRT2635774	hsa-miR-4633-3p	CLIP-seq
MIRT2635775	hsa-miR-4661-3p	CLIP-seq
MIRT2635776	hsa-miR-4677-5p	CLIP-seq
MIRT2635777	hsa-miR-4680-3p	CLIP-seq
MIRT1399917	hsa-miR-4690-3p	CLIP-seq
MIRT2635778	hsa-miR-4720-5p	CLIP-seq
MIRT2635779	hsa-miR-4729	CLIP-seq
MIRT2635780	hsa-miR-4735-5p	CLIP-seq
MIRT2635781	hsa-miR-4739	CLIP-seq
MIRT2635782	hsa-miR-4756-5p	CLIP-seq
MIRT2119907	hsa-miR-4762-3p	CLIP-seq
MIRT2635783	hsa-miR-4799-3p	CLIP-seq
MIRT2635784	hsa-miR-490-3p	CLIP-seq
MIRT2635785	hsa-miR-506	CLIP-seq
MIRT2635786	hsa-miR-520a-5p	CLIP-seq
MIRT2635787	hsa-miR-520d-5p	CLIP-seq
MIRT2635788	hsa-miR-524-5p	CLIP-seq
MIRT2635789	hsa-miR-525-5p	CLIP-seq
MIRT2635790	hsa-miR-539	CLIP-seq
MIRT2635791	hsa-miR-548a-3p	CLIP-seq
MIRT2635792	hsa-miR-548an	CLIP-seq
MIRT1399918	hsa-miR-548c-3p	CLIP-seq
MIRT2635793	hsa-miR-548e	CLIP-seq
MIRT2635794	hsa-miR-548f	CLIP-seq
MIRT2635795	hsa-miR-548g	CLIP-seq
MIRT2119910	hsa-miR-548o	CLIP-seq
MIRT1399919	hsa-miR-579	CLIP-seq
MIRT2635796	hsa-miR-580	CLIP-seq
MIRT2635797	hsa-miR-600	CLIP-seq
MIRT2635798	hsa-miR-610	CLIP-seq
MIRT2635799	hsa-miR-624	CLIP-seq
MIRT2635800	hsa-miR-649	CLIP-seq
MIRT2635801	hsa-miR-664	CLIP-seq
MIRT2635802	hsa-miR-920	CLIP-seq
MIRT1399910	hsa-miR-1200	CLIP-seq
MIRT2635744	hsa-miR-124	CLIP-seq
MIRT2635747	hsa-miR-1321	CLIP-seq
MIRT2119902	hsa-miR-1323	CLIP-seq
MIRT2119903	hsa-miR-145	CLIP-seq
MIRT2635748	hsa-miR-188-3p	CLIP-seq
MIRT2635749	hsa-miR-2116	CLIP-seq
MIRT2635751	hsa-miR-219-2-3p	CLIP-seq
MIRT2635752	hsa-miR-2909	CLIP-seq
MIRT2635753	hsa-miR-2964a-3p	CLIP-seq
MIRT1399914	hsa-miR-3074-5p	CLIP-seq
MIRT2635754	hsa-miR-3120-5p	CLIP-seq
MIRT1399915	hsa-miR-3136-3p	CLIP-seq
MIRT2635757	hsa-miR-3162-5p	CLIP-seq
MIRT2635758	hsa-miR-3163	CLIP-seq
MIRT2635759	hsa-miR-3180-5p	CLIP-seq
MIRT2635760	hsa-miR-3182	CLIP-seq
MIRT1399916	hsa-miR-328	CLIP-seq
MIRT2635761	hsa-miR-340	CLIP-seq
MIRT2635762	hsa-miR-3607-3p	CLIP-seq
MIRT2635763	hsa-miR-3663-5p	CLIP-seq
MIRT2635764	hsa-miR-3686	CLIP-seq
MIRT2635765	hsa-miR-375	CLIP-seq
MIRT2635766	hsa-miR-4273	CLIP-seq
MIRT2635767	hsa-miR-4281	CLIP-seq
MIRT2635769	hsa-miR-4300	CLIP-seq
MIRT2119905	hsa-miR-4328	CLIP-seq
MIRT2635770	hsa-miR-4427	CLIP-seq
MIRT2119906	hsa-miR-4502	CLIP-seq
MIRT2635774	hsa-miR-4633-3p	CLIP-seq
MIRT2635775	hsa-miR-4661-3p	CLIP-seq
MIRT2635776	hsa-miR-4677-5p	CLIP-seq
MIRT2635777	hsa-miR-4680-3p	CLIP-seq
MIRT1399917	hsa-miR-4690-3p	CLIP-seq
MIRT2635780	hsa-miR-4735-5p	CLIP-seq
MIRT2635781	hsa-miR-4739	CLIP-seq
MIRT2635782	hsa-miR-4756-5p	CLIP-seq
MIRT2119907	hsa-miR-4762-3p	CLIP-seq
MIRT2635784	hsa-miR-490-3p	CLIP-seq
MIRT2635785	hsa-miR-506	CLIP-seq
MIRT2635786	hsa-miR-520a-5p	CLIP-seq
MIRT2635787	hsa-miR-520d-5p	CLIP-seq
MIRT2635788	hsa-miR-524-5p	CLIP-seq
MIRT2635789	hsa-miR-525-5p	CLIP-seq
MIRT2635790	hsa-miR-539	CLIP-seq
MIRT2635791	hsa-miR-548a-3p	CLIP-seq
MIRT2635792	hsa-miR-548an	CLIP-seq
MIRT1399918	hsa-miR-548c-3p	CLIP-seq
MIRT2635793	hsa-miR-548e	CLIP-seq
MIRT2635794	hsa-miR-548f	CLIP-seq
MIRT2635795	hsa-miR-548g	CLIP-seq
MIRT2119910	hsa-miR-548o	CLIP-seq
MIRT1399919	hsa-miR-579	CLIP-seq
MIRT2635796	hsa-miR-580	CLIP-seq
MIRT2635797	hsa-miR-600	CLIP-seq
MIRT2635798	hsa-miR-610	CLIP-seq
MIRT2635800	hsa-miR-649	CLIP-seq
MIRT2635802	hsa-miR-920	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004579	Function	Dolichyl-diphosphooligosaccharide-protein glycotransferase activity	IBA	21873635
GO:0004579	Function	Dolichyl-diphosphooligosaccharide-protein glycotransferase activity	IMP	19167329, 22467853
GO:0004579	Function	Dolichyl-diphosphooligosaccharide-protein glycotransferase activity	ISS
GO:0005515	Function	Protein binding	IPI	21903422, 32814053
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006487	Process	Protein N-linked glycosylation	IMP	22467853
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	22467853
GO:0008250	Component	Oligosaccharyltransferase complex	TAS	19167329
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA	21873635
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	19167329
GO:0018279	Process	Protein N-linked glycosylation via asparagine	ISS
GO:0018279	Process	Protein N-linked glycosylation via asparagine	TAS
GO:0035000	Component	Oligosaccharyltransferase III complex	ISS
GO:0043686	Process	Co-translational protein modification	IMP	19167329
GO:0043687	Process	Post-translational protein modification	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 601134
• HGNC: 6172
• e!Ensembl: ENSG00000134910

Protein

• UniProt ID: P46977
• Protein name: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A (Oligosaccharyl transferase subunit STT3A) (STT3-A) (EC 2.4.99.18) (B5) (Integral membrane protein 1) (Transmembrane protein TMC)
• Protein function: Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-
• PDB: 6S7O, 8B6L, 8PN9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02516	STT3	17 → 484	Oligosaccharyl transferase STT3 subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in placenta, liver, muscle and pancreas, and at very low levels in brain, lung and kidney. Expressed in skin fibroblasts (at protein level). {ECO:0000269|PubMed:12887896}.
• Sequence:

  MTKFGFLRLSYEKQDTLLKLLILSMAAVLSFSTRLFAVLRFESVIHEFDPYFNYRTTRFL
  AEEGFYKFHNWFDDRAWYPLGRIIGGTIYPGLMITSAAIYHVLHFFHITIDIRNVCVFLA
  PLFSSFTTIVTYHLTKELKDAGAGLLAAAMIAVVPGYISRSVAGSYDNEGIAIFCMLLTY
  YMWIKAVKTGSICWAAKCALAYFYMVSSWGGYVFLINLIPLHVLVLMLTGRFSHRIYVAY
  CTVYCLGTILSMQISFVGFQPVLSSEHMAAFGVFGLCQIHAFVDYLRSKLNPQQFEVLFR
  SVISLVGFVLLTVGALLMLTGKISPWTGRFYSLLDPSYAKNNIPIIASVSEHQPTTWSSY
  YFDLQLLVFMFPVGLYYCFSNLSDARIFIIMYGVTSMYFSAVMVRLMLVLAPVMCILSGI
  GVSQVLSTYMKNLDISRPDKKSKKQQDSTYPIKNEVASGMILVMAFFLITYTFHSTWVTS
  EAYSSPSIVLSARGGDGSRIIFDDFREAYYWLRHNTPEDAKVMSWWDYGYQITAMANRTI
  LVDNNTWNNTHISRVGQAMASTEEKAYEIMRELDVSYVLVIFGGLTGYSSDDINKFLWMV
  RIGGSTDTGKHIKENDYYTPTGEFRVDREGSPVLLNCLMYKMCYYRFGQVYTEAKRPPGF
  DRVRNAEIGNKDFELDVLEEAYTTEHWLVRIYKVKDLDNRGLSRT

• Sequence length: 705

Pathways

KEGG:

N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum

Reactome:

Asparagine N-linked glycosylation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019	23453885
Congenital disorder of glycosylation	Congenital disorder of glycosylation type 1w, STT3A-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	23842455
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	23842455
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	23842455
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Schizophrenia	Schizophrenia	rs13447324, 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	21926974, 23453885

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Major Depressive Disorder		23453885	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma Follicular	Associate	15085203
Adenoma	Associate	15085203
Alzheimer Disease	Associate	35766008
Breast Neoplasms	Associate	35444644
Carcinogenesis	Associate	34899684
Carcinoma Renal Cell	Associate	37468683
Congenital Disorders of Glycosylation	Associate	23842455
Developmental Disabilities	Associate	30701557
Glycogen Storage Disease XIV	Associate	30701557
Nasal Polyps	Associate	32047813
Neoplasms	Associate	26883286, 34899684
Seizures	Associate	30701557