SPATA18 (spermatogenesis associated 18)

Gene

• Entrez ID: 132671
• Gene name: Spermatogenesis associated 18
• Gene symbol: SPATA18
• Synonyms (NCBI Gene): Mieap, SPETEX1
• Chromosome: 4
• Chromosome location: 4q12
• Summary: This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality con

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017774	hsa-miR-335-5p	Microarray	18185580
MIRT545174	hsa-miR-6888-5p	PAR-CLIP	21572407
MIRT545172	hsa-miR-3938	PAR-CLIP	21572407
MIRT545171	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT545170	hsa-miR-665	PAR-CLIP	21572407
MIRT545169	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT545168	hsa-miR-1915-3p	PAR-CLIP	21572407
MIRT545167	hsa-miR-6764-5p	PAR-CLIP	21572407
MIRT545166	hsa-miR-4726-3p	PAR-CLIP	21572407
MIRT545165	hsa-miR-7977	PAR-CLIP	21572407
MIRT545164	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT545163	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT545174	hsa-miR-6888-5p	PAR-CLIP	21572407
MIRT545172	hsa-miR-3938	PAR-CLIP	21572407
MIRT545171	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT545170	hsa-miR-665	PAR-CLIP	21572407
MIRT545169	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT545168	hsa-miR-1915-3p	PAR-CLIP	21572407
MIRT545167	hsa-miR-6764-5p	PAR-CLIP	21572407
MIRT545166	hsa-miR-4726-3p	PAR-CLIP	21572407
MIRT545165	hsa-miR-7977	PAR-CLIP	21572407
MIRT545164	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT545163	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT1382272	hsa-let-7a	CLIP-seq
MIRT1382273	hsa-let-7b	CLIP-seq
MIRT1382274	hsa-let-7c	CLIP-seq
MIRT1382275	hsa-let-7d	CLIP-seq
MIRT1382276	hsa-let-7e	CLIP-seq
MIRT1382277	hsa-let-7f	CLIP-seq
MIRT1382278	hsa-let-7g	CLIP-seq
MIRT1382279	hsa-let-7i	CLIP-seq
MIRT1382280	hsa-miR-1915	CLIP-seq
MIRT1382281	hsa-miR-202	CLIP-seq
MIRT1382282	hsa-miR-2052	CLIP-seq
MIRT1382283	hsa-miR-3143	CLIP-seq
MIRT1382284	hsa-miR-320a	CLIP-seq
MIRT1382285	hsa-miR-320b	CLIP-seq
MIRT1382286	hsa-miR-320c	CLIP-seq
MIRT1382287	hsa-miR-320d	CLIP-seq
MIRT1382288	hsa-miR-4269	CLIP-seq
MIRT1382289	hsa-miR-4429	CLIP-seq
MIRT1382290	hsa-miR-4458	CLIP-seq
MIRT1382291	hsa-miR-4500	CLIP-seq
MIRT1382292	hsa-miR-4688	CLIP-seq
MIRT1382293	hsa-miR-4709-3p	CLIP-seq
MIRT1382294	hsa-miR-486-3p	CLIP-seq
MIRT1382295	hsa-miR-543	CLIP-seq
MIRT1382296	hsa-miR-586	CLIP-seq
MIRT1382297	hsa-miR-610	CLIP-seq
MIRT1382298	hsa-miR-98	CLIP-seq
MIRT2114301	hsa-miR-1244	CLIP-seq
MIRT2114302	hsa-miR-1324	CLIP-seq
MIRT2114303	hsa-miR-133a	CLIP-seq
MIRT2114304	hsa-miR-133b	CLIP-seq
MIRT2114305	hsa-miR-2964a-3p	CLIP-seq
MIRT2114306	hsa-miR-371-5p	CLIP-seq
MIRT2114307	hsa-miR-371b-5p	CLIP-seq
MIRT2114308	hsa-miR-4276	CLIP-seq
MIRT2114309	hsa-miR-4302	CLIP-seq
MIRT2114310	hsa-miR-4649-3p	CLIP-seq
MIRT2114311	hsa-miR-4797-5p	CLIP-seq
MIRT2114312	hsa-miR-489	CLIP-seq
MIRT2114313	hsa-miR-514	CLIP-seq
MIRT2114314	hsa-miR-514b-3p	CLIP-seq
MIRT2114315	hsa-miR-548m	CLIP-seq
MIRT2114316	hsa-miR-562	CLIP-seq
MIRT2114317	hsa-miR-593	CLIP-seq
MIRT2337314	hsa-miR-1273f	CLIP-seq
MIRT2337315	hsa-miR-142-3p	CLIP-seq
MIRT2337316	hsa-miR-143	CLIP-seq
MIRT1382282	hsa-miR-2052	CLIP-seq
MIRT2337317	hsa-miR-3124-3p	CLIP-seq
MIRT2337318	hsa-miR-3688-3p	CLIP-seq
MIRT2337319	hsa-miR-4255	CLIP-seq
MIRT2337320	hsa-miR-4708-5p	CLIP-seq
MIRT2337321	hsa-miR-4770	CLIP-seq
MIRT2337322	hsa-miR-4795-3p	CLIP-seq
MIRT2440735	hsa-miR-3670	CLIP-seq
MIRT2440736	hsa-miR-4324	CLIP-seq
MIRT2440737	hsa-miR-4637	CLIP-seq
MIRT2440738	hsa-miR-556-5p	CLIP-seq
MIRT2460350	hsa-miR-340	CLIP-seq
MIRT2466169	hsa-miR-410	CLIP-seq
MIRT2466170	hsa-miR-4643	CLIP-seq
MIRT2630870	hsa-miR-1285	CLIP-seq
MIRT2630871	hsa-miR-1294	CLIP-seq
MIRT2630872	hsa-miR-1296	CLIP-seq
MIRT2630873	hsa-miR-1323	CLIP-seq
MIRT2630874	hsa-miR-181a	CLIP-seq
MIRT2630875	hsa-miR-181b	CLIP-seq
MIRT2630876	hsa-miR-181c	CLIP-seq
MIRT2630877	hsa-miR-181d	CLIP-seq
MIRT2630878	hsa-miR-1827	CLIP-seq
MIRT2630879	hsa-miR-191	CLIP-seq
MIRT2630880	hsa-miR-21	CLIP-seq
MIRT2630881	hsa-miR-2276	CLIP-seq
MIRT2630882	hsa-miR-2909	CLIP-seq
MIRT2630883	hsa-miR-299-3p	CLIP-seq
MIRT2630884	hsa-miR-3158-3p	CLIP-seq
MIRT2630885	hsa-miR-3160-3p	CLIP-seq
MIRT2630886	hsa-miR-3160-5p	CLIP-seq
MIRT2630887	hsa-miR-3187-5p	CLIP-seq
MIRT2630888	hsa-miR-3529	CLIP-seq
MIRT2630889	hsa-miR-3609	CLIP-seq
MIRT2630890	hsa-miR-3662	CLIP-seq
MIRT2440735	hsa-miR-3670	CLIP-seq
MIRT2114306	hsa-miR-371-5p	CLIP-seq
MIRT2114307	hsa-miR-371b-5p	CLIP-seq
MIRT2630891	hsa-miR-379	CLIP-seq
MIRT2630892	hsa-miR-3929	CLIP-seq
MIRT2466169	hsa-miR-410	CLIP-seq
MIRT2630893	hsa-miR-4262	CLIP-seq
MIRT2114308	hsa-miR-4276	CLIP-seq
MIRT2114309	hsa-miR-4302	CLIP-seq
MIRT2630894	hsa-miR-4310	CLIP-seq
MIRT2630895	hsa-miR-4316	CLIP-seq
MIRT2440736	hsa-miR-4324	CLIP-seq
MIRT2630896	hsa-miR-4419b	CLIP-seq
MIRT2630897	hsa-miR-4434	CLIP-seq
MIRT2630898	hsa-miR-4446-3p	CLIP-seq
MIRT2630899	hsa-miR-4451	CLIP-seq
MIRT2630900	hsa-miR-4477b	CLIP-seq
MIRT2630901	hsa-miR-4478	CLIP-seq
MIRT2630902	hsa-miR-4487	CLIP-seq
MIRT2630903	hsa-miR-4491	CLIP-seq
MIRT2630904	hsa-miR-4516	CLIP-seq
MIRT2630905	hsa-miR-4531	CLIP-seq
MIRT2440737	hsa-miR-4637	CLIP-seq
MIRT2630906	hsa-miR-4639-3p	CLIP-seq
MIRT2466170	hsa-miR-4643	CLIP-seq
MIRT2114310	hsa-miR-4649-3p	CLIP-seq
MIRT2630907	hsa-miR-4650-3p	CLIP-seq
MIRT2630908	hsa-miR-4657	CLIP-seq
MIRT2630909	hsa-miR-4675	CLIP-seq
MIRT2630910	hsa-miR-4698	CLIP-seq
MIRT2630911	hsa-miR-4699-3p	CLIP-seq
MIRT2630912	hsa-miR-4741	CLIP-seq
MIRT2630913	hsa-miR-4772-3p	CLIP-seq
MIRT2630914	hsa-miR-491-3p	CLIP-seq
MIRT2630915	hsa-miR-548a-3p	CLIP-seq
MIRT2630916	hsa-miR-548ah	CLIP-seq
MIRT2630917	hsa-miR-548e	CLIP-seq
MIRT2630918	hsa-miR-548f	CLIP-seq
MIRT2114315	hsa-miR-548m	CLIP-seq
MIRT2630919	hsa-miR-548n	CLIP-seq
MIRT2630920	hsa-miR-548o	CLIP-seq
MIRT2630921	hsa-miR-548t	CLIP-seq
MIRT2440738	hsa-miR-556-5p	CLIP-seq
MIRT2630922	hsa-miR-558	CLIP-seq
MIRT2630923	hsa-miR-576-3p	CLIP-seq
MIRT2630924	hsa-miR-590-5p	CLIP-seq
MIRT2114317	hsa-miR-593	CLIP-seq
MIRT2630925	hsa-miR-612	CLIP-seq
MIRT2630926	hsa-miR-626	CLIP-seq
MIRT2630927	hsa-miR-664	CLIP-seq
MIRT2630928	hsa-miR-758	CLIP-seq
MIRT2630871	hsa-miR-1294	CLIP-seq
MIRT2630873	hsa-miR-1323	CLIP-seq
MIRT2630874	hsa-miR-181a	CLIP-seq
MIRT2630875	hsa-miR-181b	CLIP-seq
MIRT2630876	hsa-miR-181c	CLIP-seq
MIRT2630877	hsa-miR-181d	CLIP-seq
MIRT2630878	hsa-miR-1827	CLIP-seq
MIRT2630880	hsa-miR-21	CLIP-seq
MIRT2630881	hsa-miR-2276	CLIP-seq
MIRT2630883	hsa-miR-299-3p	CLIP-seq
MIRT2630885	hsa-miR-3160-3p	CLIP-seq
MIRT2630890	hsa-miR-3662	CLIP-seq
MIRT2114306	hsa-miR-371-5p	CLIP-seq
MIRT2114307	hsa-miR-371b-5p	CLIP-seq
MIRT2466169	hsa-miR-410	CLIP-seq
MIRT2630893	hsa-miR-4262	CLIP-seq
MIRT2114308	hsa-miR-4276	CLIP-seq
MIRT2114309	hsa-miR-4302	CLIP-seq
MIRT2630895	hsa-miR-4316	CLIP-seq
MIRT2630897	hsa-miR-4434	CLIP-seq
MIRT2630902	hsa-miR-4487	CLIP-seq
MIRT2630903	hsa-miR-4491	CLIP-seq
MIRT2630904	hsa-miR-4516	CLIP-seq
MIRT2630905	hsa-miR-4531	CLIP-seq
MIRT2466170	hsa-miR-4643	CLIP-seq
MIRT2114310	hsa-miR-4649-3p	CLIP-seq
MIRT2630908	hsa-miR-4657	CLIP-seq
MIRT2630911	hsa-miR-4699-3p	CLIP-seq
MIRT2630913	hsa-miR-4772-3p	CLIP-seq
MIRT2630914	hsa-miR-491-3p	CLIP-seq
MIRT2630915	hsa-miR-548a-3p	CLIP-seq
MIRT2630917	hsa-miR-548e	CLIP-seq
MIRT2630918	hsa-miR-548f	CLIP-seq
MIRT2114315	hsa-miR-548m	CLIP-seq
MIRT2630920	hsa-miR-548o	CLIP-seq
MIRT2630922	hsa-miR-558	CLIP-seq
MIRT2630923	hsa-miR-576-3p	CLIP-seq
MIRT2630924	hsa-miR-590-5p	CLIP-seq
MIRT2114317	hsa-miR-593	CLIP-seq
MIRT2630927	hsa-miR-664	CLIP-seq
MIRT2630928	hsa-miR-758	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21264221, 22292033, 32296183
GO:0005737	Component	Cytoplasm	IDA	21264221, 21264228
GO:0005739	Component	Mitochondrion	IDA
GO:0005741	Component	Mitochondrial outer membrane	IBA	21873635
GO:0005741	Component	Mitochondrial outer membrane	IDA	21264221, 21264228
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	21264221
GO:0035694	Process	Mitochondrial protein catabolic process	IBA	21873635
GO:0035694	Process	Mitochondrial protein catabolic process	IMP	21264221, 21264228
GO:0035695	Process	Mitophagy by induced vacuole formation	IBA	21873635
GO:0035695	Process	Mitophagy by induced vacuole formation	IMP	21264228
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	21264228

Other IDs

• MIM: 612814
• HGNC: 29579
• e!Ensembl: ENSG00000163071

Protein

• UniProt ID: Q8TC71
• Protein name: Mitochondria-eating protein (Spermatogenesis-associated protein 18)
• Protein function: Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage (PubMed:21264221, PubMed:21264228, PubMed:22292033, PubMed:22532927). Mediator of mitochondrial prote
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16026	MIEAP	298 → 486	Mitochondria-eating protein	Family

• Sequence:

  MAENLKRLVSNETLRTLQEKLDFWLKEYNTNTCDQNLNHCLELIEQVAKVQGQLFGILTA
  AAQEGGRNDGVETIKSRLLPWLEASFTAASLGKSVDSKVPSLQDTFDRERHKDPSPRDRD
  MQQLDSNLNSTRSQCNQVQDDLVETEKNLEESKNRSAISLLAAEEEINQLKKQLKSLQAQ
  EDARHRNTDQRSSENRRSEPWSLEERKREQWNSLKQNADQQDTEAMSDYKKQLRNLKEEI
  AVLSAEKSALQGRSSRSRSPSPAPRSRSCSRSRSASPSTAVKVRRPSPNRSKLSNVARKA
  ALLSRFSDSYSQARLDAQCLLRRCIDKAETVQRIIYIATVEAFHVAKMAFRHFKIHVRKS
  LTPSYVGSNDFENAVLDYVICHLDLYDSQSSVNDVIRAMNVNPKISFPPVVDFCLLSDFI
  QEICCIAFAMQALEPPLDIAYGADGEVFNDCKYRRSYDSDFTAPLVLYHVWPALMENDCV
  IMKGEAVTRRGAFWNSVRSVSRCRSRSLSPICPRSQIGLNTMSRSRSPSPIRCGLPRF

• Sequence length: 538

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	29915430
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	29915430
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	29915430
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS
Lung adenocarcinoma	Lung adenocarcinoma	Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors		GWAS, CBGDA
Asthma	Asthma			GWAS
Uterine Fibroids	Uterine Fibroids			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	38183982
Adenoma	Associate	28058013
Breast Neoplasms	Associate	30290054
Carcinoma Ductal	Associate	30290054
Carcinoma Renal Cell	Stimulate	36751118
Colorectal Neoplasms	Associate	30290054, 35269894
Esophageal Neoplasms	Associate	32736677
Gastrointestinal Neoplasms	Associate	32736677
Lymphatic Metastasis	Associate	35269894
Mitochondrial Diseases	Associate	21264221
Neoplasms	Associate	21264221, 36751118
Neoplasms	Inhibit	30290054, 32736677, 35269894
Peritonitis	Associate	35269894
Stomach Neoplasms	Associate	32736677