SLC28A1 (solute carrier family 28 member 1)

Gene

• Entrez ID: 9154
• Gene name: Solute carrier family 28 member 1
• Gene symbol: SLC28A1
• Synonyms (NCBI Gene): CNT1, HCNT1, URCTU
• Disease Acronyms (UniProt): URCTU
• Chromosome: 15
• Chromosome location: 15q25.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2242047	C>T	Affects	Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs45584739	T>C	Affects	Intron variant, missense variant, genic downstream transcript variant, coding sequence variant
rs149246522	G>A	Affects	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030057	hsa-miR-26b-5p	Microarray	19088304
MIRT633665	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT633664	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT633663	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT633662	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT633661	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT633660	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT633659	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT633658	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT633657	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT633656	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT633655	hsa-miR-6131	HITS-CLIP	23824327
MIRT633654	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT633653	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT633652	hsa-miR-640	HITS-CLIP	23824327
MIRT633651	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT633650	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT563797	hsa-miR-4802-3p	PAR-CLIP	20371350
MIRT563796	hsa-miR-490-5p	PAR-CLIP	20371350
MIRT563795	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT563794	hsa-miR-107	PAR-CLIP	20371350
MIRT563793	hsa-miR-1193	PAR-CLIP	20371350
MIRT563792	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT563791	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT563790	hsa-miR-5047	PAR-CLIP	20371350
MIRT563789	hsa-miR-432-3p	PAR-CLIP	20371350
MIRT563788	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT529673	hsa-miR-3133	PAR-CLIP	22012620
MIRT529672	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT529671	hsa-miR-4731-3p	PAR-CLIP	22012620
MIRT529670	hsa-miR-4801	PAR-CLIP	22012620
MIRT529669	hsa-miR-5683	PAR-CLIP	22012620
MIRT529668	hsa-miR-4709-5p	PAR-CLIP	22012620
MIRT529667	hsa-miR-1245b-3p	PAR-CLIP	22012620
MIRT529666	hsa-miR-4790-3p	PAR-CLIP	22012620
MIRT529665	hsa-miR-4789-5p	PAR-CLIP	22012620
MIRT529664	hsa-miR-421	PAR-CLIP	22012620
MIRT529663	hsa-miR-1261	PAR-CLIP	22012620
MIRT517190	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT517189	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT517188	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT517187	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT517186	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT517185	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT517184	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT517183	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT517182	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT517181	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT517180	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT517179	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT517178	hsa-miR-302e	PAR-CLIP	23446348
MIRT517177	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT517176	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT517175	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT517174	hsa-miR-520b	PAR-CLIP	23446348
MIRT517173	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT517172	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT517171	hsa-miR-520e	PAR-CLIP	23446348
MIRT517170	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT517169	hsa-miR-520g-3p	PAR-CLIP	23446348
MIRT517168	hsa-miR-520h	PAR-CLIP	23446348
MIRT517167	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT517166	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT517165	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT517164	hsa-miR-3194-5p	PAR-CLIP	23446348
MIRT517163	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT517162	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT517161	hsa-miR-4253	PAR-CLIP	23446348
MIRT517160	hsa-miR-6862-5p	PAR-CLIP	23446348
MIRT517159	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517158	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT488992	hsa-miR-4506	PAR-CLIP	23592263
MIRT488991	hsa-miR-1244	PAR-CLIP	23592263
MIRT488990	hsa-miR-4703-3p	PAR-CLIP	23592263
MIRT488989	hsa-miR-1225-5p	PAR-CLIP	23592263
MIRT633665	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT633664	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT633663	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT633662	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT633661	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT633660	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT633659	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT633658	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT633657	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT633656	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT633655	hsa-miR-6131	HITS-CLIP	23824327
MIRT633654	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT633653	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT633652	hsa-miR-640	HITS-CLIP	23824327
MIRT633651	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT633650	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT563797	hsa-miR-4802-3p	PAR-CLIP	20371350
MIRT563796	hsa-miR-490-5p	PAR-CLIP	20371350
MIRT563795	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT563794	hsa-miR-107	PAR-CLIP	20371350
MIRT563793	hsa-miR-1193	PAR-CLIP	20371350
MIRT563792	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT563791	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT563790	hsa-miR-5047	PAR-CLIP	20371350
MIRT563789	hsa-miR-432-3p	PAR-CLIP	20371350
MIRT563788	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT529673	hsa-miR-3133	PAR-CLIP	22012620
MIRT529672	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT529671	hsa-miR-4731-3p	PAR-CLIP	22012620
MIRT529670	hsa-miR-4801	PAR-CLIP	22012620
MIRT529669	hsa-miR-5683	PAR-CLIP	22012620
MIRT529668	hsa-miR-4709-5p	PAR-CLIP	22012620
MIRT529667	hsa-miR-1245b-3p	PAR-CLIP	22012620
MIRT529666	hsa-miR-4790-3p	PAR-CLIP	22012620
MIRT529665	hsa-miR-4789-5p	PAR-CLIP	22012620
MIRT529664	hsa-miR-421	PAR-CLIP	22012620
MIRT529663	hsa-miR-1261	PAR-CLIP	22012620
MIRT517190	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT517189	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT517188	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT517187	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT517186	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT517185	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT517184	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT517183	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT517182	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT517181	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT517180	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT517179	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT517178	hsa-miR-302e	PAR-CLIP	23446348
MIRT517177	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT517176	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT517175	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT517174	hsa-miR-520b	PAR-CLIP	23446348
MIRT517173	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT517172	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT517171	hsa-miR-520e	PAR-CLIP	23446348
MIRT517170	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT517169	hsa-miR-520g-3p	PAR-CLIP	23446348
MIRT517168	hsa-miR-520h	PAR-CLIP	23446348
MIRT517167	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT517166	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT517165	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT517164	hsa-miR-3194-5p	PAR-CLIP	23446348
MIRT517163	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT517162	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT517161	hsa-miR-4253	PAR-CLIP	23446348
MIRT517160	hsa-miR-6862-5p	PAR-CLIP	23446348
MIRT517159	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517158	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT488992	hsa-miR-4506	PAR-CLIP	23592263
MIRT488991	hsa-miR-1244	PAR-CLIP	23592263
MIRT488990	hsa-miR-4703-3p	PAR-CLIP	23592263
MIRT488989	hsa-miR-1225-5p	PAR-CLIP	23592263
MIRT1358085	hsa-miR-122	CLIP-seq
MIRT1358086	hsa-miR-1275	CLIP-seq
MIRT1358087	hsa-miR-3179	CLIP-seq
MIRT1358088	hsa-miR-3202	CLIP-seq
MIRT1358089	hsa-miR-3919	CLIP-seq
MIRT1358090	hsa-miR-3921	CLIP-seq
MIRT1358091	hsa-miR-4476	CLIP-seq
MIRT1358092	hsa-miR-4525	CLIP-seq
MIRT1358093	hsa-miR-4534	CLIP-seq
MIRT1358094	hsa-miR-4653-5p	CLIP-seq
MIRT1358095	hsa-miR-4665-5p	CLIP-seq
MIRT1358096	hsa-miR-4716-3p	CLIP-seq
MIRT1358097	hsa-miR-4723-5p	CLIP-seq
MIRT1358098	hsa-miR-4747-5p	CLIP-seq
MIRT1358099	hsa-miR-4766-5p	CLIP-seq
MIRT1358100	hsa-miR-4768-5p	CLIP-seq
MIRT1358101	hsa-miR-625	CLIP-seq
MIRT1358102	hsa-miR-939	CLIP-seq
MIRT1358103	hsa-miR-105	CLIP-seq
MIRT1358104	hsa-miR-1276	CLIP-seq
MIRT1358105	hsa-miR-132	CLIP-seq
MIRT1358106	hsa-miR-194	CLIP-seq
MIRT1358107	hsa-miR-212	CLIP-seq
MIRT1358108	hsa-miR-4311	CLIP-seq
MIRT1358109	hsa-miR-583	CLIP-seq
MIRT2106114	hsa-miR-145	CLIP-seq
MIRT1358092	hsa-miR-4525	CLIP-seq
MIRT2394697	hsa-miR-4768-3p	CLIP-seq
MIRT2394698	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005337	Function	Nucleoside transmembrane transporter activity	IBA	21873635
GO:0005345	Function	Purine nucleobase transmembrane transporter activity	NAS	22492015
GO:0005415	Function	Nucleoside:sodium symporter activity	IBA	21873635
GO:0005415	Function	Nucleoside:sodium symporter activity	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	21998139
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006139	Process	Nucleobase-containing compound metabolic process	TAS	9124315
GO:0015212	Function	Cytidine transmembrane transporter activity	IDA	21998139
GO:0015212	Function	Cytidine transmembrane transporter activity	TAS	22813716
GO:0015213	Function	Uridine transmembrane transporter activity	IDA	21998139, 22492015
GO:0015293	Function	Symporter activity	IBA	21873635
GO:0015389	Function	Pyrimidine- and adenine-specific:sodium symporter activity	IBA	21873635
GO:0015855	Process	Pyrimidine nucleobase transport	IBA	21873635
GO:0015858	Process	Nucleoside transport	TAS	9124315
GO:0015861	Process	Cytidine transport	IBA	21873635
GO:0015861	Process	Cytidine transport	IDA	21998139
GO:0015861	Process	Cytidine transport	TAS	22813716
GO:0015862	Process	Uridine transport	IBA	21873635
GO:0015862	Process	Uridine transport	IDA	21998139, 22492015
GO:0016020	Component	Membrane	TAS	9124315
GO:0016607	Component	Nuclear speck	IDA
GO:0031526	Component	Brush border membrane	ISS
GO:0045117	Process	Azole transmembrane transport	IDA	22813716
GO:0072531	Process	Pyrimidine-containing compound transmembrane transport	IDA	22492015
GO:1901474	Function	Azole transmembrane transporter activity	IDA	22813716
GO:1901642	Process	Nucleoside transmembrane transport	IBA	21873635
GO:1901642	Process	Nucleoside transmembrane transport	IDA	22492015
GO:1904823	Process	Purine nucleobase transmembrane transport	NAS	22492015

Other IDs

• MIM: 606207
• HGNC: 11001
• e!Ensembl: ENSG00000156222

Protein

• UniProt ID: O00337
• Protein name: Sodium/nucleoside cotransporter 1 (Concentrative nucleoside transporter 1) (CNT 1) (hCNT1) (Na(+)/nucleoside cotransporter 1) (Sodium-coupled nucleoside transporter 1) (Solute carrier family 28 member 1)
• Protein function: Sodium and pyrimidine nucleoside symporter of the plasma membrane that imports uridine, thymidine and cytidine into cells by coupling their transport to the transmembrane sodium electrochemical gradient. Also transports adenosine, an atypical su
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01773	Nucleos_tra2_N	183 → 256	Na+ dependent nucleoside transporter N-terminus	Family
  PF07670	Gate	263 → 382	Nucleoside recognition	Domain
  PF07662	Nucleos_tra2_C	366 → 590	Na+ dependent nucleoside transporter C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney. {ECO:0000269|PubMed:9124315}.
• Sequence:

  MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFS
  RWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVL
  TFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLV
  SFAGICVFVALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI
  FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVT
  MGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISF
  GIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAI
  SVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE
  DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCG
  FANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDC
  MSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ

• Sequence length: 649

Pathways

Reactome:

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	16837820
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	16837820
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	16837820

Unknown
Disease term	Disease name	Evidence	References	Source
Cerebral amyloid angiopathy	Cerebral amyloid angiopathy			GWAS
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autistic Disorder	Associate	36150388
Carcinoma Renal Cell	Associate	25600708
Colorectal Neoplasms	Associate	34647142
Dykes Markes Harper syndrome	Associate	30658162
Fever	Associate	30658162
Hemophagocytic lymphohistiocytosis familial 2	Associate	30658162
Hereditary Sensory and Autonomic Neuropathies	Associate	30273369
HIV Infections	Associate	25069476
Immunologic Deficiency Syndromes	Inhibit	30658162
Immunologic Deficiency Syndromes	Associate	30658162
Leukemia Myeloid Acute	Associate	32312148
Multiple Myeloma	Associate	35053305
Multiple Organ Failure	Associate	30658162
Muscle Spasticity	Associate	28867665
Neoplasms	Associate	25069476, 25600708, 34647142
Neutropenia	Associate	30889042
Oroticaciduria 1	Associate	30658162
Ovarian Neoplasms	Associate	25600708
Pancreatic Neoplasms	Associate	20028759
Pancreatic Neoplasms	Inhibit	21343396
Purine Pyrimidine Metabolism Inborn Errors	Associate	30658162
Systemic carnitine deficiency	Associate	25600708