COG6 (component of oligomeric golgi complex 6)

Gene

• Entrez ID: 57511
• Gene name: Component of oligomeric golgi complex 6
• Gene symbol: COG6
• Synonyms (NCBI Gene): CDG2L, COD2, SHNS
• Disease Acronyms (UniProt): CDG2L, SHNS
• Chromosome: 13
• Chromosome location: 13q14.11
• Summary: This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 int

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200177031	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs387906959	G>C,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs730882236	A>G	Likely-pathogenic, pathogenic	Intron variant
rs752232501	A>C,G	Pathogenic	Non coding transcript variant, initiator codon variant, missense variant
rs756826030	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs781641023	G>A,T	Pathogenic	Splice acceptor variant
rs794726950	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1292534396	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555277827	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1593402927	A>G	Likely-pathogenic	Splice acceptor variant
rs1593418044	CAAGAGAAGGACCCATTACTGAGGTA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1593418085	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1593421620	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT640429	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT640428	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT640427	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT640426	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT640425	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT640424	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT640423	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640421	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT640422	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640420	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT640419	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT630750	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT630749	hsa-miR-4328	HITS-CLIP	23824327
MIRT630748	hsa-miR-18b-3p	HITS-CLIP	23824327
MIRT630747	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT630746	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT630745	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT630744	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT630743	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT630742	hsa-miR-3157-3p	HITS-CLIP	23824327
MIRT630741	hsa-miR-874-3p	HITS-CLIP	23824327
MIRT630740	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT640429	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT640428	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT640427	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT640426	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT640425	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT640424	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT640423	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640421	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT640422	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640420	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT640419	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT630750	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT630749	hsa-miR-4328	HITS-CLIP	23824327
MIRT630748	hsa-miR-18b-3p	HITS-CLIP	23824327
MIRT630747	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT630746	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT630745	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT630744	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT630743	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT630742	hsa-miR-3157-3p	HITS-CLIP	23824327
MIRT630741	hsa-miR-874-3p	HITS-CLIP	23824327
MIRT630740	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT902273	hsa-miR-1273f	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902275	hsa-miR-185	CLIP-seq
MIRT902276	hsa-miR-2054	CLIP-seq
MIRT902277	hsa-miR-218	CLIP-seq
MIRT902278	hsa-miR-2467-3p	CLIP-seq
MIRT902279	hsa-miR-2909	CLIP-seq
MIRT902280	hsa-miR-297	CLIP-seq
MIRT902281	hsa-miR-3120-3p	CLIP-seq
MIRT902282	hsa-miR-3135b	CLIP-seq
MIRT902283	hsa-miR-3149	CLIP-seq
MIRT902284	hsa-miR-3158-5p	CLIP-seq
MIRT902285	hsa-miR-3162-5p	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT902288	hsa-miR-3678-3p	CLIP-seq
MIRT902289	hsa-miR-3942-5p	CLIP-seq
MIRT902290	hsa-miR-3977	CLIP-seq
MIRT902291	hsa-miR-425	CLIP-seq
MIRT902292	hsa-miR-4306	CLIP-seq
MIRT902293	hsa-miR-4418	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT902295	hsa-miR-4436b-3p	CLIP-seq
MIRT902296	hsa-miR-4477b	CLIP-seq
MIRT902297	hsa-miR-4487	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902299	hsa-miR-4644	CLIP-seq
MIRT902300	hsa-miR-4661-5p	CLIP-seq
MIRT902301	hsa-miR-4672	CLIP-seq
MIRT902302	hsa-miR-4703-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT902304	hsa-miR-4735-5p	CLIP-seq
MIRT902305	hsa-miR-502-5p	CLIP-seq
MIRT902306	hsa-miR-509-3-5p	CLIP-seq
MIRT902307	hsa-miR-509-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT902309	hsa-miR-579	CLIP-seq
MIRT902310	hsa-miR-636	CLIP-seq
MIRT902311	hsa-miR-660	CLIP-seq
MIRT902281	hsa-miR-3120-3p	CLIP-seq
MIRT1967663	hsa-miR-3128	CLIP-seq
MIRT1967664	hsa-miR-34a	CLIP-seq
MIRT1967665	hsa-miR-34c-5p	CLIP-seq
MIRT902289	hsa-miR-3942-5p	CLIP-seq
MIRT1967666	hsa-miR-449a	CLIP-seq
MIRT1967667	hsa-miR-449b	CLIP-seq
MIRT902300	hsa-miR-4661-5p	CLIP-seq
MIRT902301	hsa-miR-4672	CLIP-seq
MIRT902302	hsa-miR-4703-5p	CLIP-seq
MIRT1967668	hsa-miR-4720-5p	CLIP-seq
MIRT1967669	hsa-miR-4799-3p	CLIP-seq
MIRT2447422	hsa-miR-300	CLIP-seq
MIRT2447423	hsa-miR-381	CLIP-seq
MIRT2447424	hsa-miR-4503	CLIP-seq
MIRT2447425	hsa-miR-4666-3p	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT2506380	hsa-miR-3613-3p	CLIP-seq
MIRT2506381	hsa-miR-362-5p	CLIP-seq
MIRT2506382	hsa-miR-3646	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT2506383	hsa-miR-4477a	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT2506384	hsa-miR-4786-5p	CLIP-seq
MIRT2506385	hsa-miR-500b	CLIP-seq
MIRT2506386	hsa-miR-501-5p	CLIP-seq
MIRT2506387	hsa-miR-513a-3p	CLIP-seq
MIRT2506388	hsa-miR-520d-5p	CLIP-seq
MIRT2506389	hsa-miR-524-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT2506390	hsa-miR-548a-3p	CLIP-seq
MIRT2506391	hsa-miR-548e	CLIP-seq
MIRT2506392	hsa-miR-548f	CLIP-seq
MIRT2506393	hsa-miR-548g	CLIP-seq
MIRT2506394	hsa-miR-769-5p	CLIP-seq
MIRT2506395	hsa-miR-944	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT2506380	hsa-miR-3613-3p	CLIP-seq
MIRT2506382	hsa-miR-3646	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT2506384	hsa-miR-4786-5p	CLIP-seq
MIRT2506388	hsa-miR-520d-5p	CLIP-seq
MIRT2506389	hsa-miR-524-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT2506390	hsa-miR-548a-3p	CLIP-seq
MIRT2506391	hsa-miR-548e	CLIP-seq
MIRT2506392	hsa-miR-548f	CLIP-seq
MIRT2506393	hsa-miR-548g	CLIP-seq
MIRT2506394	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	27107012, 28514442, 32296183
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA	21873635
GO:0015031	Process	Protein transport	IEA
GO:0017119	Component	Golgi transport complex	IBA	21873635
GO:0017119	Component	Golgi transport complex	IDA	15047703
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0070085	Process	Glycosylation	IMP	20605848

Other IDs

• MIM: 606977
• HGNC: 18621
• e!Ensembl: ENSG00000133103

Protein

• UniProt ID: Q9Y2V7
• Protein name: Conserved oligomeric Golgi complex subunit 6 (COG complex subunit 6) (Component of oligomeric Golgi complex 6)
• Protein function: Required for normal Golgi function.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06419	COG6	56 → 656	Conserved oligomeric complex COG6	Family

• Sequence:

  MAEGSGEVVAVSATGAANGLNNGAGGTSATTCNPLSRKLHKILETRLDNDKEMLEALKAL
  STFFVENSLRTRRNLRGDIERKSLAINEEFVSIFKEVKEELESISEDVQAMSNCCQDMTS
  RLQAAKEQTQDLIVKTTKLQSESQKLEIRAQVADAFLSKFQLTSDEMSLLRGTREGPITE
  DFFKALGRVKQIHNDVKVLLRTNQQTAGLEIMEQMALLQETAYERLYRWAQSECRTLTQE
  SCDVSPVLTQAMEALQDRPVLYKYTLDEFGTARRSTVVRGFIDALTRGGPGGTPRPIEMH
  SHDPLRYVGDMLAWLHQATASEKEHLEALLKHVTTQGVEENIQEVVGHITEGVCRPLKVR
  IEQVIVAEPGAVLLYKISNLLKFYHHTISGIVGNSATALLTTIEEMHLLSKKIFFNSLSL
  HASKLMDKVELPPPDLGPSSALNQTLMLLREVLASHDSSVVPLDARQADFVQVLSCVLDP
  LLQMCTVSASNLGTADMATFMVNSLYMMKTTLALFEFTDRRLEMLQFQIEAHLDTLINEQ
  ASYVLTRVGLSYIYNTVQQHKPEQGSLANMPNLDSVTLKAAMVQFDRYLSAPDNLLIPQL
  NFLLSATVKEQIVKQSTELVCRAYGEVYAAVMNPINEYKDPENILHRSPQQVQTLLS

• Sequence length: 657

Pathways

Reactome:

COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Systemic onset juvenile chronic arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	23603761
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl, COG6-CGD	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	27604308, 20605848, 26260076, 11980916, 29709711, 23430903
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
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
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
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
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25903422
Rheumatoid arthritis	Rheumatoid Arthritis, Rheumatoid Arthritis, Systemic Juvenile	rs587776843	27193031, 23603761

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		30929738	ClinVar, GWAS
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			GenCC
Uterine Fibroids	Uterine Fibroids			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthritis Juvenile	Associate	20722033
Arthritis Rheumatoid	Associate	18369459, 20722033, 24532676
Autoimmune Diseases	Associate	18369459, 20722033
Carcinoma Renal Cell	Associate	34539936
Celiac Disease	Associate	18369459
Congenital Disorder Of Glycosylation Type In	Associate	40225945
Coronary Artery Disease	Associate	25197382
Crohn Disease	Associate	20722033
Dental Enamel Hypoplasia	Associate	40225945
Diabetes Mellitus Type 1	Associate	18369459, 20722033
Glycogen Storage Disease XIV	Associate	40225945
Graves Disease	Associate	18369459
Multiple Sclerosis	Associate	20722033
Psoriasis	Associate	18369459, 26993500
Pulmonary Arterial Hypertension	Associate	38184627