ADK (adenosine kinase)

Gene

• Entrez ID: 132
• Gene name: Adenosine kinase
• Gene symbol: ADK
• Synonyms (NCBI Gene): AK
• Chromosome: 10
• Chromosome location: 10q22.2|10q11-q24
• Summary: This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514452	C>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs397514454	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs786205458	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1589286482	->G	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1589387419	C>T	Likely-pathogenic	3 prime UTR variant, coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051111	hsa-miR-16-5p	CLASH	23622248
MIRT330977	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT671687	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT671686	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT671685	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT671684	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT671683	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT671682	hsa-miR-1976	HITS-CLIP	23824327
MIRT671681	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT671680	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT671679	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT671678	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT671677	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT671676	hsa-miR-4279	HITS-CLIP	23824327
MIRT671675	hsa-miR-592	HITS-CLIP	23824327
MIRT671674	hsa-miR-498	HITS-CLIP	23824327
MIRT645674	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT645673	hsa-miR-1245a	HITS-CLIP	23824327
MIRT645672	hsa-miR-8079	HITS-CLIP	23824327
MIRT645670	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT645671	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT645669	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT645668	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT645666	hsa-miR-378g	HITS-CLIP	23824327
MIRT645667	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT645664	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT645665	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT645663	hsa-miR-4437	HITS-CLIP	23824327
MIRT645662	hsa-miR-1260a	HITS-CLIP	23824327
MIRT645661	hsa-miR-1260b	HITS-CLIP	23824327
MIRT645660	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT645659	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT645658	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT645657	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT645656	hsa-miR-4674	HITS-CLIP	23824327
MIRT330977	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT671687	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT671686	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT671685	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT671684	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT671683	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT671682	hsa-miR-1976	HITS-CLIP	23824327
MIRT671681	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT671680	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT671679	hsa-miR-597-5p	HITS-CLIP	23824327
MIRT671678	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT671677	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT671676	hsa-miR-4279	HITS-CLIP	23824327
MIRT671675	hsa-miR-592	HITS-CLIP	23824327
MIRT671674	hsa-miR-498	HITS-CLIP	23824327
MIRT645674	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT645673	hsa-miR-1245a	HITS-CLIP	23824327
MIRT645672	hsa-miR-8079	HITS-CLIP	23824327
MIRT645670	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT645671	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT645669	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT645668	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT645666	hsa-miR-378g	HITS-CLIP	23824327
MIRT645667	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT645664	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT645665	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT645663	hsa-miR-4437	HITS-CLIP	23824327
MIRT645662	hsa-miR-1260a	HITS-CLIP	23824327
MIRT645661	hsa-miR-1260b	HITS-CLIP	23824327
MIRT645660	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT645659	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT645658	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT645657	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT645656	hsa-miR-4674	HITS-CLIP	23824327
MIRT769179	hsa-miR-1296	CLIP-seq
MIRT769180	hsa-miR-2909	CLIP-seq
MIRT769181	hsa-miR-346	CLIP-seq
MIRT769182	hsa-miR-34a	CLIP-seq
MIRT769183	hsa-miR-34c-5p	CLIP-seq
MIRT769184	hsa-miR-4288	CLIP-seq
MIRT769185	hsa-miR-4436b-3p	CLIP-seq
MIRT769186	hsa-miR-449a	CLIP-seq
MIRT769187	hsa-miR-449b	CLIP-seq
MIRT769188	hsa-miR-4761-3p	CLIP-seq
MIRT769189	hsa-miR-495	CLIP-seq
MIRT769190	hsa-miR-632	CLIP-seq
MIRT769191	hsa-miR-873	CLIP-seq
MIRT769192	hsa-miR-885-5p	CLIP-seq
MIRT769193	hsa-miR-337-3p	CLIP-seq
MIRT769194	hsa-miR-4668-5p	CLIP-seq
MIRT2167761	hsa-miR-3657	CLIP-seq
MIRT2167762	hsa-miR-4275	CLIP-seq
MIRT2167763	hsa-miR-4669	CLIP-seq
MIRT2167764	hsa-miR-4797-5p	CLIP-seq
MIRT2167765	hsa-miR-599	CLIP-seq
MIRT2470390	hsa-miR-1283	CLIP-seq
MIRT2470391	hsa-miR-3688-3p	CLIP-seq
MIRT2470392	hsa-miR-4291	CLIP-seq
MIRT2470393	hsa-miR-4310	CLIP-seq
MIRT2470394	hsa-miR-4445	CLIP-seq
MIRT2470395	hsa-miR-4760-5p	CLIP-seq
MIRT2470396	hsa-miR-4795-3p	CLIP-seq
MIRT2470397	hsa-miR-4799-5p	CLIP-seq
MIRT2470398	hsa-miR-653	CLIP-seq
MIRT2470390	hsa-miR-1283	CLIP-seq
MIRT2470391	hsa-miR-3688-3p	CLIP-seq
MIRT2470392	hsa-miR-4291	CLIP-seq
MIRT2470393	hsa-miR-4310	CLIP-seq
MIRT2470394	hsa-miR-4445	CLIP-seq
MIRT2470395	hsa-miR-4760-5p	CLIP-seq
MIRT2470397	hsa-miR-4799-5p	CLIP-seq
MIRT2470398	hsa-miR-653	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004001	Function	Adenosine kinase activity	IBA	21873635
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006175	Process	DATP biosynthetic process	IEA
GO:0009156	Process	Ribonucleoside monophosphate biosynthetic process	TAS	9070863
GO:0016310	Process	Phosphorylation	IEA
GO:0043101	Process	Purine-containing compound salvage	TAS
GO:0044209	Process	AMP salvage	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 102750
• HGNC: 257
• e!Ensembl: ENSG00000156110

Protein

• UniProt ID: P55263
• Protein name: Adenosine kinase (AK) (EC 2.7.1.20) (Adenosine 5'-phosphotransferase)
• Protein function: Catalyzes the phosphorylation of the purine nucleoside adenosine at the 5' position in an ATP-dependent manner. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides. {ECO:0000269|PubM
• PDB: 1BX4, 2I6A, 2I6B, 4O1L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00294	PfkB	42 → 360	pfkB family carbohydrate kinase	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highest level in placenta, liver, muscle and kidney. {ECO:0000269|PubMed:9070863}.
• Sequence:

  MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAED
  KHKELFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEILKRKA
  AEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKNWMLVEKAR
  VCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGN
  ETEAATFAREQGFETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVTAFA
  VLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKPLTECIRAGHYAASIIIRRTGCTFPEKPD
  FH

• Sequence length: 362

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Nucleotide metabolism

Reactome:

Purine salvage

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
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
Hypermethioninemia	HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	rs121918607, rs121918608, rs757966746, rs773162208	21963049, 26642971
Mental retardation	Profound Mental Retardation, Mental deficiency, 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	21937992
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	22706302

Unknown
Disease term	Disease name	Evidence	References	Source
Hypospadias	Hypospadias			GWAS
Pelvic Organ Prolapse	Pelvic Organ Prolapse			GWAS
Hypertension	Hypertension			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Astrocytoma	Associate	22092111
Brain Injuries Traumatic	Associate	26040919
Brain Neoplasms	Associate	22092111
Choriocarcinoma	Associate	6683274
Drug Related Side Effects and Adverse Reactions	Associate	19186174, 30927276
Encephalitis	Associate	24128682, 31353670
Epilepsy	Associate	22092111, 24128682, 26329539, 29126171, 34479194
Glioma	Associate	26329539
Gliosis	Associate	24128682
Malocclusion Angle Class II	Associate	25865538
Mental Disorders	Associate	26495439
Myoma	Associate	33817738
Neoplasms	Associate	12817886, 22092111, 26329539
Neuroblastoma	Associate	30755485
Neutropenia	Associate	30927276
Parkinson Disease Secondary	Associate	29126171
Rufous oculocutaneous albinism	Associate	22092111
Schizophrenia	Associate	29126171
Seizures	Associate	22092111, 26040919, 34479194
Stress Disorders Post Traumatic	Associate	26040919
Tooth Eruption Ectopic	Associate	21931568