OGG1 (8-oxoguanine DNA glycosylase)

Gene

• Entrez ID: 4968
• Gene name: 8-oxoguanine DNA glycosylase
• Gene symbol: OGG1
• Synonyms (NCBI Gene): HMMH, HOGG1, MUTM, OGH1
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893751	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040345	hsa-miR-615-3p	CLASH	23622248
MIRT052750	hsa-miR-1260b	CLASH	23622248
MIRT711096	hsa-miR-6783-5p	HITS-CLIP	19536157
MIRT711095	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711094	hsa-miR-5092	HITS-CLIP	19536157
MIRT711093	hsa-miR-149-3p	HITS-CLIP	19536157
MIRT711092	hsa-miR-4728-5p	HITS-CLIP	19536157
MIRT711091	hsa-miR-6785-5p	HITS-CLIP	19536157
MIRT711090	hsa-miR-6883-5p	HITS-CLIP	19536157
MIRT711089	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT711088	hsa-miR-6824-5p	HITS-CLIP	19536157
MIRT711096	hsa-miR-6783-5p	HITS-CLIP	19536157
MIRT711095	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711094	hsa-miR-5092	HITS-CLIP	19536157
MIRT711093	hsa-miR-149-3p	HITS-CLIP	19536157
MIRT711092	hsa-miR-4728-5p	HITS-CLIP	19536157
MIRT711091	hsa-miR-6785-5p	HITS-CLIP	19536157
MIRT711090	hsa-miR-6883-5p	HITS-CLIP	19536157
MIRT711089	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT711088	hsa-miR-6824-5p	HITS-CLIP	19536157
MIRT711096	hsa-miR-6783-5p	HITS-CLIP	19536157
MIRT711095	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711094	hsa-miR-5092	HITS-CLIP	19536157
MIRT711093	hsa-miR-149-3p	HITS-CLIP	19536157
MIRT711092	hsa-miR-4728-5p	HITS-CLIP	19536157
MIRT711091	hsa-miR-6785-5p	HITS-CLIP	19536157
MIRT711090	hsa-miR-6883-5p	HITS-CLIP	19536157
MIRT711089	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT711088	hsa-miR-6824-5p	HITS-CLIP	19536157
MIRT711092	hsa-miR-4728-5p	FACS, In situ hybridization, RNA-seq, qRT-PCR, Western blotting	33000245
MIRT734696	hsa-miR-298	qRT-PCR	31484947
MIRT711096	hsa-miR-6783-5p	HITS-CLIP	19536157
MIRT711095	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711094	hsa-miR-5092	HITS-CLIP	19536157
MIRT711093	hsa-miR-149-3p	HITS-CLIP	19536157
MIRT711092	hsa-miR-4728-5p	HITS-CLIP	19536157
MIRT711091	hsa-miR-6785-5p	HITS-CLIP	19536157
MIRT711090	hsa-miR-6883-5p	HITS-CLIP	19536157
MIRT711089	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT711088	hsa-miR-6824-5p	HITS-CLIP	19536157
MIRT711096	hsa-miR-6783-5p	HITS-CLIP	19536157
MIRT711095	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711094	hsa-miR-5092	HITS-CLIP	19536157
MIRT711093	hsa-miR-149-3p	HITS-CLIP	19536157
MIRT711092	hsa-miR-4728-5p	HITS-CLIP	19536157
MIRT711091	hsa-miR-6785-5p	HITS-CLIP	19536157
MIRT711090	hsa-miR-6883-5p	HITS-CLIP	19536157
MIRT711089	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT711088	hsa-miR-6824-5p	HITS-CLIP	19536157
MIRT711096	hsa-miR-6783-5p	HITS-CLIP	19536157
MIRT711095	hsa-miR-1178-5p	HITS-CLIP	19536157
MIRT711094	hsa-miR-5092	HITS-CLIP	19536157
MIRT711093	hsa-miR-149-3p	HITS-CLIP	19536157
MIRT711092	hsa-miR-4728-5p	HITS-CLIP	19536157
MIRT711091	hsa-miR-6785-5p	HITS-CLIP	19536157
MIRT711090	hsa-miR-6883-5p	HITS-CLIP	19536157
MIRT711089	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT711088	hsa-miR-6824-5p	HITS-CLIP	19536157
MIRT1202768	hsa-miR-1296	CLIP-seq
MIRT1202769	hsa-miR-3165	CLIP-seq
MIRT1202770	hsa-miR-3180	CLIP-seq
MIRT1202771	hsa-miR-3180-3p	CLIP-seq
MIRT1202772	hsa-miR-3190	CLIP-seq
MIRT1202773	hsa-miR-3196	CLIP-seq
MIRT1202774	hsa-miR-4512	CLIP-seq
MIRT1202775	hsa-miR-129-5p	CLIP-seq
MIRT1202776	hsa-miR-4661-3p	CLIP-seq
MIRT1202777	hsa-miR-4524	CLIP-seq
MIRT1202768	hsa-miR-1296	CLIP-seq
MIRT1202769	hsa-miR-3165	CLIP-seq
MIRT1202770	hsa-miR-3180	CLIP-seq
MIRT1202771	hsa-miR-3180-3p	CLIP-seq
MIRT1202772	hsa-miR-3190	CLIP-seq
MIRT1202773	hsa-miR-3196	CLIP-seq
MIRT1202774	hsa-miR-4512	CLIP-seq
MIRT1202768	hsa-miR-1296	CLIP-seq
MIRT1202769	hsa-miR-3165	CLIP-seq
MIRT1202770	hsa-miR-3180	CLIP-seq
MIRT1202771	hsa-miR-3180-3p	CLIP-seq
MIRT1202772	hsa-miR-3190	CLIP-seq
MIRT1202773	hsa-miR-3196	CLIP-seq
MIRT1202774	hsa-miR-4512	CLIP-seq
MIRT1202768	hsa-miR-1296	CLIP-seq
MIRT1202769	hsa-miR-3165	CLIP-seq
MIRT1202770	hsa-miR-3180	CLIP-seq
MIRT1202771	hsa-miR-3180-3p	CLIP-seq
MIRT1202772	hsa-miR-3190	CLIP-seq
MIRT1202773	hsa-miR-3196	CLIP-seq
MIRT1202774	hsa-miR-4512	CLIP-seq
MIRT2585112	hsa-miR-361-5p	CLIP-seq
MIRT2585113	hsa-miR-409-3p	CLIP-seq
MIRT2585114	hsa-miR-873	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFYA	Activation	14688259
NFYA	Unknown	17989114
TP53	Activation	16293709

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002526	Process	Acute inflammatory response	IEA
GO:0003684	Function	Damaged DNA binding	IDA	14706345
GO:0004519	Function	Endonuclease activity	TAS	9223305
GO:0005515	Function	Protein binding	IPI	15518571
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	19506022
GO:0005654	Component	Nucleoplasm	IDA	17148573
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	IEA
GO:0006284	Process	Base-excision repair	TAS	9190902
GO:0006285	Process	Base-excision repair, AP site formation	IBA	21873635
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	8621488
GO:0006974	Process	Cellular response to DNA damage stimulus	IGI	19506022
GO:0006979	Process	Response to oxidative stress	IDA	17148573
GO:0007568	Process	Aging	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0008534	Function	Oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS
GO:0009314	Process	Response to radiation	IDA	17148573
GO:0009416	Process	Response to light stimulus	IEA
GO:0016363	Component	Nuclear matrix	IDA	17148573
GO:0016607	Component	Nuclear speck	IDA	17148573
GO:0032355	Process	Response to estradiol	IEA
GO:0032357	Function	Oxidized purine DNA binding	IDA	14706345
GO:0032991	Component	Protein-containing complex	IDA	19506022
GO:0033683	Process	Nucleotide-excision repair, DNA incision	IDA	19506022
GO:0034039	Function	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IBA	21873635
GO:0034039	Function	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IMP	10987279
GO:0042493	Process	Response to drug	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045007	Process	Depurination	TAS
GO:0045008	Process	Depyrimidination	TAS
GO:0045471	Process	Response to ethanol	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:0140078	Function	Class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA
GO:1901291	Process	Negative regulation of double-strand break repair via single-strand annealing	IDA	19506022

Other IDs

• MIM: 601982
• HGNC: 8125
• e!Ensembl: ENSG00000114026

Protein

• UniProt ID: O15527
• Protein name: N-glycosylase/DNA lyase [Includes: 8-oxoguanine DNA glycosylase (EC 3.2.2.-); DNA-(apurinic or apyrimidinic site) lyase (AP lyase) (EC 4.2.99.18)]
• Protein function: DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion.
• PDB: 1EBM, 1FN7, 1HU0, 1KO9, 1LWV, 1LWW, 1LWY, 1M3H, 1M3Q, 1N39, 1N3A, 1N3C, 1YQK, 1YQL, 1YQM, 1YQR, 2I5W, 2NOB, 2NOE, 2NOF, 2NOH, 2NOI, 2NOL, 2NOZ, 2XHI, 3IH7, 3KTU, 5AN4, 6RLW, 6W0M, 6W0R, 6W13, 7AYY, 8VWT, 8VWV, 8VX4, 8VX6, 9EOZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07934	OGG_N	25 → 141	8-oxoguanine DNA glycosylase, N-terminal domain	Family
  PF00730	HhH-GPD	142 → 301	HhH-GPD superfamily base excision DNA repair protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLA
  DQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHF
  QEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHG
  FPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKAL
  CILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELG
  NFFRSLWGPYAGWAQAVLFSADLRQSRHAQEPPAKRRKGSKGPEG

• Sequence length: 345

Pathways

KEGG:

Base excision repair

Reactome:

Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Displacement of DNA glycosylase by APEX1
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
Defective OGG1 Substrate Binding
Defective OGG1 Substrate Processing
Defective OGG1 Localization

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	19336973
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	19336973
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	22652274
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	24075420
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	23951099
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	17441966, 19336973
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044	17441966
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	29709520
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	14634453, 11956079
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724

Unknown
Disease term	Disease name	Evidence	References	Source
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma			ClinVar
Hereditary renal carcinoma	Hereditary clear cell renal cell carcinoma		10987279	ClinVar
Huntington disease	Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease		19857538	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	16800823, 18349297, 26159902, 29209987, 32257438
Adenocarcinoma of Lung	Associate	12164330, 16800823, 23700156, 23951099, 29209987
Adenocarcinoma of Lung	Stimulate	23951099
Adenoma	Associate	20534734
Alzheimer Disease	Associate	17426120, 21845541, 21878349, 23684897, 27234294
Alzheimer Disease	Inhibit	18598755
Amyotrophic Lateral Sclerosis	Associate	32005289
Angiomyolipoma	Associate	17932460
Barrett Esophagus	Associate	18349297
Bipolar Disorder	Associate	26241352
Bipolar Disorder	Inhibit	29626765
Breast Neoplasms	Associate	21622940, 22108520, 23443115, 24606430, 25416100, 26946191, 27571987, 27822728, 29445914, 29720094, 32167073, 32192442
Breast Neoplasms	Stimulate	25416100, 27571987
Calcinosis Cutis	Associate	21515665
Cap Myopathy	Associate	21515665
Carcinogenesis	Associate	20564624, 24382701, 25268610, 26295053, 28634180, 9765618
Carcinogenesis	Inhibit	27603140
Carcinoma Basal Cell	Inhibit	27057281
Carcinoma Hepatocellular	Associate	14562375, 23677377, 35723423
Carcinoma Non Small Cell Lung	Associate	20521346, 23038158, 26159902, 28039450, 33372419
Carcinoma Squamous Cell	Associate	21623257, 23443124
Cardiomyopathies	Associate	27316582
Cataract	Associate	24868140
Cataract Age Related Nuclear	Associate	24868140, 29689049
Cholangiocarcinoma	Associate	25335960
Cockayne Syndrome	Stimulate	21668583
Cockayne Syndrome	Inhibit	9973627
Cognitive Dysfunction	Inhibit	18598755, 27234294
Cognitive Dysfunction	Associate	30983028
Colorectal Neoplasms	Associate	12717837, 20534734, 25024628, 25268610, 25526641, 27022219, 29257843, 29516665, 29773766, 30429230, 32312920, 35181726, 35770680
Colorectal Neoplasms	Inhibit	16914027
Colorectal Neoplasms	Stimulate	36982562
Congenital Abnormalities	Associate	15931596
Coronary Artery Disease	Associate	27182613
Death	Associate	26159902
Dementia	Associate	21845541
Depressive Disorder Major	Stimulate	23185405
Diabetes Gestational	Inhibit	27019630
Diabetes Mellitus	Associate	20606456, 27019630
Diabetes Mellitus Type 2	Associate	20606456, 24998955, 29886452
Dilatation Pathologic	Associate	24451144
DNA Virus Infections	Associate	21257718, 24598051, 36982562
Drug Hypersensitivity	Associate	17651912
Drug Related Side Effects and Adverse Reactions	Inhibit	11741815
Drug Related Side Effects and Adverse Reactions	Stimulate	33273562
Drug Related Side Effects and Adverse Reactions	Associate	33273562
Endometrial Neoplasms	Associate	20602259, 21866464, 22544315
Epstein Barr Virus Infections	Stimulate	31511648
Esophageal Squamous Cell Carcinoma	Associate	24022861
Exocrine Pancreatic Insufficiency	Associate	20140303
Gallbladder Neoplasms	Associate	20564624, 21283657
Gastritis Atrophic	Associate	15596047, 20845517
Gastrointestinal Stromal Tumors	Associate	27460091
Glaucoma Angle Closure	Associate	28396513
Head and Neck Neoplasms	Associate	22081374, 22320992
Hearing Loss	Associate	36203702
Hearing Loss Noise Induced	Associate	24599382
Hyperglycemia	Inhibit	26161242
Hypertension	Associate	29886452
Hypoxia	Associate	36788635
Infarction Anterior Cerebral Artery	Associate	22277767
Inflammation	Associate	21376741, 36128847, 36982562, 39341999
Inflammation	Inhibit	21845541
Insulin Resistance	Associate	24998955
Ischemia	Associate	36788635
Kidney Diseases	Associate	36788635
Kidney Failure Chronic	Associate	22720119
Laryngeal Neoplasms	Associate	19966524
Lead Poisoning Nervous System	Associate	26161242, 32640694
Leukemia	Associate	36528059
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	30912416
Leukemia Myeloid Acute	Associate	33836581, 36528059
Leukemia T Cell	Associate	30912416
Light Fixation Seizure Syndrome	Associate	22389292
Liver Diseases	Associate	17085873
Lung Diseases	Associate	11741815
Lung Neoplasms	Associate	12164330, 16800823, 18990748, 19064361, 19161591, 20718982, 22901126, 23038158, 23104324, 23443124, 23951099, 23954288, 26159902, 26634519, 29209987, 32257438, 33372419
Lupus Erythematosus Systemic	Inhibit	24345202
Lupus Erythematosus Systemic	Associate	25671815
Lupus Nephritis	Associate	25671815
Lymphoma Follicular	Associate	16056251
Lymphoma Non Hodgkin	Inhibit	24756092
Macular Degeneration	Associate	17057786, 19885394
Melanoma	Associate	37170598
Meningitis Bacterial	Associate	26316174
Mitochondrial Myopathies	Associate	17551003
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	23677377
Mouth Neoplasms	Associate	22320992, 29037125, 36149156
Multiple Sclerosis	Associate	31484947
Myotonic Dystrophy	Inhibit	27019630
Nasopharyngeal Carcinoma	Associate	24175791, 29121049
Neoplasms	Associate	10908322, 12827550, 15133474, 16800823, 17085873, 17214369, 17651912, 17932460, 18823381, 19064361, 19959686, 20431719, 20718982, 21401806, 22108520, 22253860, 22544315, 25526641, 26124010, 26218629, 27015555, 27022219, 30912416, 31280195, 33114607, 33361155, 33372419, 33423158, 34479993, 34785721, 35269445, 35723423, 36128847, 38554113, 39341999
Neoplasms	Inhibit	11260864, 24606430, 25268610, 35628513
Neoplasms	Stimulate	21187477, 22253860
Neoplastic Processes	Associate	35770680
Nephritis	Associate	25671815
Neuroblastoma	Associate	29795387, 34479993
Neurodegenerative Diseases	Associate	21845541, 33114607, 39341999
Neuroectodermal Tumors Primitive	Associate	22389292
Neuroendocrine Tumors	Associate	28634180
Neurotoxicity Syndromes	Associate	26161242
Niemann Pick Disease Type C	Associate	29912899
Non alcoholic Fatty Liver Disease	Associate	37511066
Non Muscle Invasive Bladder Neoplasms	Stimulate	33004944
Obesity	Associate	24998955, 36982562
Ovarian Neoplasms	Associate	24698998, 26124010, 27015555, 31898659
Pancreatic Neoplasms	Associate	17230526, 18774780, 22850545, 23999824
Personality Disorders	Inhibit	22108520
Polyposis Syndrome Hereditary Mixed 1	Associate	16914027
Polyps	Associate	25526641
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	21401806, 31280195
Prostatic Neoplasms	Associate	19914697, 21515665, 21982398, 25284284
Pterygium	Associate	15692461, 20431719, 20577654
Pulmonary Disease Chronic Obstructive	Associate	24053728
Rectal Neoplasms	Inhibit	25268610
Reperfusion Injury	Stimulate	36788635
Rothmund Thomson Syndrome	Associate	32432680
Skin Diseases	Associate	16759981
Smoke Inhalation Injury	Associate	20718982, 22901126
Squamous Cell Carcinoma of Head and Neck	Inhibit	11598155, 21727658, 22081374
Squamous Cell Carcinoma of Head and Neck	Associate	21727658, 24622884, 26785117
Stomach Neoplasms	Associate	15596047, 20845517, 27603140, 9765618
Stomach Neoplasms	Inhibit	27603140
Thyroid Cancer Papillary	Associate	18470905
Tooth Loss	Associate	16538639
Triple Negative Breast Neoplasms	Associate	22108520
Tuberous Sclerosis	Associate	17932460
Urinary Bladder Neoplasms	Associate	17214369, 19414392, 22463382, 24382701
Uterine Cervical Neoplasms	Associate	20846459, 35485688
Visceral myopathy familial external ophthalmoplegia	Associate	23868064, 30310528
Vitamin D Deficiency	Stimulate	25380286
Wilms Tumor	Associate	29937070