SLC35C1 (solute carrier family 35 member C1)

Gene

• Entrez ID: 55343
• Gene name: Solute carrier family 35 member C1
• Gene symbol: SLC35C1
• Synonyms (NCBI Gene): CDG2C, FUCT1
• Disease Acronyms (UniProt): CDG2C
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937886	C>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs28939087	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs111773874	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs398124345	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs587777655	TCT>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, inframe deletion
rs751828447	C>G,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs766512058	C>G	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1554953926	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029512	hsa-miR-26b-5p	Microarray	19088304
MIRT052607	hsa-let-7a-5p	CLASH	23622248
MIRT059171	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT059175	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT059172	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT059173	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT059178	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1360492	hsa-miR-1271	CLIP-seq
MIRT1360493	hsa-miR-1273d	CLIP-seq
MIRT1360494	hsa-miR-1294	CLIP-seq
MIRT1360495	hsa-miR-141	CLIP-seq
MIRT1360496	hsa-miR-182	CLIP-seq
MIRT1360497	hsa-miR-200a	CLIP-seq
MIRT1360498	hsa-miR-205	CLIP-seq
MIRT1360499	hsa-miR-30a	CLIP-seq
MIRT1360500	hsa-miR-30b	CLIP-seq
MIRT1360501	hsa-miR-30c	CLIP-seq
MIRT1360502	hsa-miR-30d	CLIP-seq
MIRT1360503	hsa-miR-30e	CLIP-seq
MIRT1360504	hsa-miR-3123	CLIP-seq
MIRT1360505	hsa-miR-3145-3p	CLIP-seq
MIRT1360506	hsa-miR-3154	CLIP-seq
MIRT1360507	hsa-miR-3184	CLIP-seq
MIRT1360508	hsa-miR-3192	CLIP-seq
MIRT1360509	hsa-miR-3199	CLIP-seq
MIRT1360510	hsa-miR-331-3p	CLIP-seq
MIRT1360511	hsa-miR-3925-5p	CLIP-seq
MIRT1360512	hsa-miR-423-5p	CLIP-seq
MIRT1360513	hsa-miR-4292	CLIP-seq
MIRT1360514	hsa-miR-4314	CLIP-seq
MIRT1360515	hsa-miR-4316	CLIP-seq
MIRT1360516	hsa-miR-4450	CLIP-seq
MIRT1360517	hsa-miR-4490	CLIP-seq
MIRT1360518	hsa-miR-4515	CLIP-seq
MIRT1360519	hsa-miR-4530	CLIP-seq
MIRT1360520	hsa-miR-4646-5p	CLIP-seq
MIRT1360521	hsa-miR-4652-5p	CLIP-seq
MIRT1360522	hsa-miR-4667-5p	CLIP-seq
MIRT1360523	hsa-miR-4686	CLIP-seq
MIRT1360524	hsa-miR-4700-5p	CLIP-seq
MIRT1360525	hsa-miR-4762-3p	CLIP-seq
MIRT1360526	hsa-miR-4774-5p	CLIP-seq
MIRT1360527	hsa-miR-646	CLIP-seq
MIRT1360528	hsa-miR-891b	CLIP-seq
MIRT1360529	hsa-miR-96	CLIP-seq
MIRT1360530	hsa-miR-1185	CLIP-seq
MIRT1360531	hsa-miR-1224-5p	CLIP-seq
MIRT1360532	hsa-miR-1227	CLIP-seq
MIRT1360533	hsa-miR-1237	CLIP-seq
MIRT1360534	hsa-miR-124	CLIP-seq
MIRT1360535	hsa-miR-1246	CLIP-seq
MIRT1360536	hsa-miR-1248	CLIP-seq
MIRT1360537	hsa-miR-1266	CLIP-seq
MIRT1360538	hsa-miR-1273e	CLIP-seq
MIRT1360539	hsa-miR-1286	CLIP-seq
MIRT1360540	hsa-miR-1293	CLIP-seq
MIRT1360495	hsa-miR-141	CLIP-seq
MIRT1360541	hsa-miR-193a-5p	CLIP-seq
MIRT1360497	hsa-miR-200a	CLIP-seq
MIRT1360542	hsa-miR-2113	CLIP-seq
MIRT1360543	hsa-miR-218	CLIP-seq
MIRT1360544	hsa-miR-29a	CLIP-seq
MIRT1360545	hsa-miR-29b	CLIP-seq
MIRT1360546	hsa-miR-29c	CLIP-seq
MIRT1360547	hsa-miR-3127-5p	CLIP-seq
MIRT1360548	hsa-miR-3130-5p	CLIP-seq
MIRT1360549	hsa-miR-3179	CLIP-seq
MIRT1360510	hsa-miR-331-3p	CLIP-seq
MIRT1360550	hsa-miR-3605-5p	CLIP-seq
MIRT1360551	hsa-miR-3679-5p	CLIP-seq
MIRT1360552	hsa-miR-3915	CLIP-seq
MIRT1360553	hsa-miR-3918	CLIP-seq
MIRT1360554	hsa-miR-3920	CLIP-seq
MIRT1360555	hsa-miR-4252	CLIP-seq
MIRT1360513	hsa-miR-4292	CLIP-seq
MIRT1360556	hsa-miR-4436a	CLIP-seq
MIRT1360516	hsa-miR-4450	CLIP-seq
MIRT1360557	hsa-miR-4482	CLIP-seq
MIRT1360558	hsa-miR-4483	CLIP-seq
MIRT1360559	hsa-miR-4518	CLIP-seq
MIRT1360519	hsa-miR-4530	CLIP-seq
MIRT1360560	hsa-miR-455-3p	CLIP-seq
MIRT1360561	hsa-miR-4640-5p	CLIP-seq
MIRT1360522	hsa-miR-4667-5p	CLIP-seq
MIRT1360523	hsa-miR-4686	CLIP-seq
MIRT1360562	hsa-miR-4689	CLIP-seq
MIRT1360524	hsa-miR-4700-5p	CLIP-seq
MIRT1360563	hsa-miR-4726-5p	CLIP-seq
MIRT1360525	hsa-miR-4762-3p	CLIP-seq
MIRT1360564	hsa-miR-4778-5p	CLIP-seq
MIRT1360565	hsa-miR-4796-5p	CLIP-seq
MIRT1360566	hsa-miR-506	CLIP-seq
MIRT1360567	hsa-miR-509-3p	CLIP-seq
MIRT1360568	hsa-miR-510	CLIP-seq
MIRT1360569	hsa-miR-513c	CLIP-seq
MIRT1360570	hsa-miR-514b-5p	CLIP-seq
MIRT1360571	hsa-miR-552	CLIP-seq
MIRT1360572	hsa-miR-562	CLIP-seq
MIRT1360573	hsa-miR-630	CLIP-seq
MIRT1360574	hsa-miR-636	CLIP-seq
MIRT1360575	hsa-miR-764	CLIP-seq
MIRT1360576	hsa-miR-767-5p	CLIP-seq
MIRT1360535	hsa-miR-1246	CLIP-seq
MIRT2106725	hsa-miR-1252	CLIP-seq
MIRT2106726	hsa-miR-1267	CLIP-seq
MIRT2106727	hsa-miR-1268	CLIP-seq
MIRT2106728	hsa-miR-1268b	CLIP-seq
MIRT2106729	hsa-miR-1289	CLIP-seq
MIRT2106730	hsa-miR-1827	CLIP-seq
MIRT2106731	hsa-miR-298	CLIP-seq
MIRT2106732	hsa-miR-3160-5p	CLIP-seq
MIRT2106733	hsa-miR-3176	CLIP-seq
MIRT1360549	hsa-miR-3179	CLIP-seq
MIRT2106734	hsa-miR-3202	CLIP-seq
MIRT1360510	hsa-miR-331-3p	CLIP-seq
MIRT2106735	hsa-miR-339-5p	CLIP-seq
MIRT2106736	hsa-miR-3612	CLIP-seq
MIRT2106737	hsa-miR-3909	CLIP-seq
MIRT2106738	hsa-miR-3922-3p	CLIP-seq
MIRT2106739	hsa-miR-3936	CLIP-seq
MIRT2106740	hsa-miR-3942-3p	CLIP-seq
MIRT2106741	hsa-miR-3942-5p	CLIP-seq
MIRT2106742	hsa-miR-4261	CLIP-seq
MIRT2106743	hsa-miR-4287	CLIP-seq
MIRT1360513	hsa-miR-4292	CLIP-seq
MIRT2106744	hsa-miR-4423-5p	CLIP-seq
MIRT1360516	hsa-miR-4450	CLIP-seq
MIRT2106745	hsa-miR-4469	CLIP-seq
MIRT2106746	hsa-miR-4476	CLIP-seq
MIRT1360519	hsa-miR-4530	CLIP-seq
MIRT2106747	hsa-miR-4652-3p	CLIP-seq
MIRT2106748	hsa-miR-4659a-5p	CLIP-seq
MIRT2106749	hsa-miR-4659b-5p	CLIP-seq
MIRT1360522	hsa-miR-4667-5p	CLIP-seq
MIRT2106750	hsa-miR-4677-3p	CLIP-seq
MIRT2106751	hsa-miR-4685-3p	CLIP-seq
MIRT1360523	hsa-miR-4686	CLIP-seq
MIRT2106752	hsa-miR-4687-3p	CLIP-seq
MIRT2106753	hsa-miR-4687-5p	CLIP-seq
MIRT1360524	hsa-miR-4700-5p	CLIP-seq
MIRT2106754	hsa-miR-4703-5p	CLIP-seq
MIRT2106755	hsa-miR-4757-5p	CLIP-seq
MIRT2106756	hsa-miR-4761-5p	CLIP-seq
MIRT2106757	hsa-miR-4776-3p	CLIP-seq
MIRT1360567	hsa-miR-509-3p	CLIP-seq
MIRT2106758	hsa-miR-5096	CLIP-seq
MIRT2106759	hsa-miR-585	CLIP-seq
MIRT2106760	hsa-miR-626	CLIP-seq
MIRT2106761	hsa-miR-635	CLIP-seq
MIRT2106762	hsa-miR-650	CLIP-seq
MIRT2106763	hsa-miR-759	CLIP-seq
MIRT2330972	hsa-miR-125a-5p	CLIP-seq
MIRT2330973	hsa-miR-125b	CLIP-seq
MIRT1360493	hsa-miR-1273d	CLIP-seq
MIRT1360494	hsa-miR-1294	CLIP-seq
MIRT1360505	hsa-miR-3145-3p	CLIP-seq
MIRT1360507	hsa-miR-3184	CLIP-seq
MIRT1360508	hsa-miR-3192	CLIP-seq
MIRT1360510	hsa-miR-331-3p	CLIP-seq
MIRT1360512	hsa-miR-423-5p	CLIP-seq
MIRT1360513	hsa-miR-4292	CLIP-seq
MIRT1360514	hsa-miR-4314	CLIP-seq
MIRT1360515	hsa-miR-4316	CLIP-seq
MIRT2330974	hsa-miR-4319	CLIP-seq
MIRT1360516	hsa-miR-4450	CLIP-seq
MIRT1360519	hsa-miR-4530	CLIP-seq
MIRT1360520	hsa-miR-4646-5p	CLIP-seq
MIRT2106748	hsa-miR-4659a-5p	CLIP-seq
MIRT2106749	hsa-miR-4659b-5p	CLIP-seq
MIRT1360522	hsa-miR-4667-5p	CLIP-seq
MIRT1360524	hsa-miR-4700-5p	CLIP-seq
MIRT2106756	hsa-miR-4761-5p	CLIP-seq
MIRT2106757	hsa-miR-4776-3p	CLIP-seq
MIRT2106760	hsa-miR-626	CLIP-seq
MIRT2394736	hsa-miR-1972	CLIP-seq
MIRT1360519	hsa-miR-4530	CLIP-seq
MIRT1360530	hsa-miR-1185	CLIP-seq
MIRT1360504	hsa-miR-3123	CLIP-seq
MIRT1360506	hsa-miR-3154	CLIP-seq
MIRT1360551	hsa-miR-3679-5p	CLIP-seq
MIRT1360511	hsa-miR-3925-5p	CLIP-seq
MIRT2625285	hsa-miR-3976	CLIP-seq
MIRT2625286	hsa-miR-548ac	CLIP-seq
MIRT2625287	hsa-miR-548ae	CLIP-seq
MIRT2625288	hsa-miR-548aj	CLIP-seq
MIRT2625289	hsa-miR-548am	CLIP-seq
MIRT2625290	hsa-miR-548d-3p	CLIP-seq
MIRT2625291	hsa-miR-548x	CLIP-seq
MIRT2625292	hsa-miR-548z	CLIP-seq
MIRT1360530	hsa-miR-1185	CLIP-seq
MIRT1360504	hsa-miR-3123	CLIP-seq
MIRT1360506	hsa-miR-3154	CLIP-seq
MIRT1360551	hsa-miR-3679-5p	CLIP-seq
MIRT1360511	hsa-miR-3925-5p	CLIP-seq
MIRT2625285	hsa-miR-3976	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005457	Function	GDP-fucose transmembrane transporter activity	IBA	21873635
GO:0005457	Function	GDP-fucose transmembrane transporter activity	TAS
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA
GO:0008643	Process	Carbohydrate transport	IEA
GO:0015297	Function	Antiporter activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0030259	Process	Lipid glycosylation	IEA
GO:0036066	Process	Protein O-linked fucosylation	IBA	21873635
GO:0036085	Process	GDP-fucose import into Golgi lumen	IBA	21873635
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA

Other IDs

• MIM: 605881
• HGNC: 20197
• e!Ensembl: ENSG00000181830

Protein

• UniProt ID: Q96A29
• Protein name: GDP-fucose transporter 1 (Solute carrier family 35 member C1)
• Protein function: Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP. Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. {ECO:0000269|PubMed:11326279, ECO:0000269|PubMed:11326280, ECO:0000269|PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03151	TPT	39 → 338	Triose-phosphate Transporter family	Family

• Sequence:

  MNRAPLKRSRILHMALTGASDPSAEAEANGEKPFLLRALQIALVVSLYWVTSISMVFLNK
  YLLDSPSLRLDTPIFVTFYQCLVTTLLCKGLSALAACCPGAVDFPSLRLDLRVARSVLPL
  SVVFIGMITFNNLCLKYVGVAFYNVGRSLTTVFNVLLSYLLLKQTTSFYALLTCGIIIGG
  FWLGVDQEGAEGTLSWLGTVFGVLASLCVSLNAIYTTKVLPAVDGSIWRLTFYNNVNACI
  LFLPLLLLLGELQALRDFAQLGSAHFWGMMTLGGLFGFAIGYVTGLQIKFTSPLTHNVSG
  TAKACAQTVLAVLYYEETKSFLWWTSNMMVLGGSSAYTWVRGWEMKKTPEEPSPKDSEKS
  AMGV

• Sequence length: 364

Pathways

Reactome:

Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
GDP-fucose biosynthesis
Transport of nucleotide sugars

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Congenital disorder of glycosylation	Congenital disorder of glycosylation, type 2C	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	24403049, 11326280, 11326279, 27604308, 12476046
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
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Mental retardation	Severe 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
Leukocyte adhesion deficiency	Leukocyte adhesion deficiency type II	rs2134903776, rs121918296, rs121918297, rs121918298, rs121918295, rs28939087, rs28937886, rs137852609, rs137852610, rs137852611, rs137852612, rs387906411, rs137852613, rs137852614, rs137852615, rs137852616, rs137852617, rs137852618, rs775138431, rs1286499329, rs179363873, rs398124345, rs483352816, rs483352817, rs483352818, rs483352819, rs483352813, rs483352814, rs483352815, rs201752283, rs748574145, rs1131691763, rs766512058, rs1568879914, rs772471533, rs1568883795, rs148877937, rs1591028090, rs1591037806, rs1601302490, rs1591038507, rs2085872592, rs2083735130
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
Periodontitis	Periodontitis	rs28937571, rs104894211, rs587777534

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Recurrent otitis media			ClinVar
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Colorectal Neoplasms	Inhibit	31961998
Congenital disorder of glycosylation type 2C	Associate	24403049, 33391282, 35772493
Developmental Disabilities	Associate	24403049
Dubowitz syndrome	Associate	33098347
Glioma	Associate	37005450
Growth Disorders	Associate	24403049
Leukocyte adhesion deficiency type 1	Associate	12738772
Neoplasms	Associate	37005450, 37933083
Neurologic Manifestations	Stimulate	12738772
Potocki Shaffer syndrome	Stimulate	33836758
Prodromal Symptoms	Inhibit	31961998
Squamous Cell Carcinoma of Head and Neck	Associate	35945754