DAP3 (death associated protein 3)

Gene

• Entrez ID: 7818
• Gene name: Death associated protein 3
• Gene symbol: DAP3
• Synonyms (NCBI Gene): DAP-3, MRP-S29, MRPS29, PRLTS7, S29mt, bMRP-10, mS29
• Disease Acronyms (UniProt): PRLTS7
• Chromosome: 1
• Chromosome location: 1q22
• Summary: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031739	hsa-miR-16-5p	Proteomics	18668040
MIRT031739	hsa-miR-16-5p	CLASH	23622248
MIRT044320	hsa-miR-106b-5p	CLASH	23622248
MIRT043117	hsa-miR-324-5p	CLASH	23622248
MIRT040466	hsa-miR-615-3p	CLASH	23622248
MIRT036140	hsa-miR-1296-5p	CLASH	23622248
MIRT036140	hsa-miR-1296-5p	CLASH	23622248
MIRT923132	hsa-miR-1276	CLIP-seq
MIRT923133	hsa-miR-139-3p	CLIP-seq
MIRT923134	hsa-miR-3672	CLIP-seq
MIRT923135	hsa-miR-4294	CLIP-seq
MIRT923136	hsa-miR-431	CLIP-seq
MIRT923137	hsa-miR-4496	CLIP-seq
MIRT923138	hsa-miR-651	CLIP-seq
MIRT923139	hsa-miR-924	CLIP-seq
MIRT923140	hsa-miR-1281	CLIP-seq
MIRT923141	hsa-miR-24	CLIP-seq
MIRT923142	hsa-miR-3074-3p	CLIP-seq
MIRT923143	hsa-miR-3187-3p	CLIP-seq
MIRT923144	hsa-miR-361-5p	CLIP-seq
MIRT923145	hsa-miR-3919	CLIP-seq
MIRT923146	hsa-miR-4252	CLIP-seq
MIRT923147	hsa-miR-4284	CLIP-seq
MIRT923148	hsa-miR-4435	CLIP-seq
MIRT923149	hsa-miR-4438	CLIP-seq
MIRT923150	hsa-miR-4701-5p	CLIP-seq
MIRT923151	hsa-miR-4756-3p	CLIP-seq
MIRT923152	hsa-miR-4772-3p	CLIP-seq
MIRT923153	hsa-miR-5095	CLIP-seq
MIRT923154	hsa-miR-539	CLIP-seq
MIRT923155	hsa-miR-548s	CLIP-seq
MIRT923156	hsa-miR-588	CLIP-seq
MIRT1973505	hsa-miR-3177-5p	CLIP-seq
MIRT1973506	hsa-miR-122	CLIP-seq
MIRT1973507	hsa-miR-3135b	CLIP-seq
MIRT1973508	hsa-miR-3149	CLIP-seq
MIRT1973509	hsa-miR-3652	CLIP-seq
MIRT1973510	hsa-miR-4430	CLIP-seq
MIRT923149	hsa-miR-4438	CLIP-seq
MIRT1973511	hsa-miR-4715-3p	CLIP-seq
MIRT1973512	hsa-miR-4735-5p	CLIP-seq
MIRT1973513	hsa-miR-4775	CLIP-seq
MIRT923153	hsa-miR-5095	CLIP-seq
MIRT1973514	hsa-miR-590-3p	CLIP-seq
MIRT2209063	hsa-miR-1236	CLIP-seq
MIRT2209064	hsa-miR-1273d	CLIP-seq
MIRT2209065	hsa-miR-149	CLIP-seq
MIRT2209066	hsa-miR-155	CLIP-seq
MIRT2209067	hsa-miR-1910	CLIP-seq
MIRT2209068	hsa-miR-1914	CLIP-seq
MIRT2209069	hsa-miR-198	CLIP-seq
MIRT2209070	hsa-miR-2861	CLIP-seq
MIRT1973505	hsa-miR-3177-5p	CLIP-seq
MIRT2209071	hsa-miR-3665	CLIP-seq
MIRT2209072	hsa-miR-4268	CLIP-seq
MIRT2209073	hsa-miR-4418	CLIP-seq
MIRT2209074	hsa-miR-4421	CLIP-seq
MIRT2209075	hsa-miR-4512	CLIP-seq
MIRT2209076	hsa-miR-509-3-5p	CLIP-seq
MIRT2209077	hsa-miR-509-5p	CLIP-seq
MIRT2209078	hsa-miR-520a-5p	CLIP-seq
MIRT2209079	hsa-miR-525-5p	CLIP-seq
MIRT2209080	hsa-miR-617	CLIP-seq
MIRT2209081	hsa-miR-624	CLIP-seq
MIRT2209082	hsa-miR-657	CLIP-seq
MIRT2209083	hsa-miR-660	CLIP-seq
MIRT2386715	hsa-miR-1913	CLIP-seq
MIRT2386716	hsa-miR-3189-3p	CLIP-seq
MIRT2386717	hsa-miR-324-3p	CLIP-seq
MIRT2386718	hsa-miR-346	CLIP-seq
MIRT2386719	hsa-miR-4274	CLIP-seq
MIRT2386720	hsa-miR-4707-3p	CLIP-seq
MIRT2386721	hsa-miR-622	CLIP-seq
MIRT2386722	hsa-miR-635	CLIP-seq
MIRT1973508	hsa-miR-3149	CLIP-seq
MIRT2448035	hsa-miR-411	CLIP-seq
MIRT1973511	hsa-miR-4715-3p	CLIP-seq
MIRT1973512	hsa-miR-4735-5p	CLIP-seq
MIRT1973513	hsa-miR-4775	CLIP-seq
MIRT1973514	hsa-miR-590-3p	CLIP-seq
MIRT2512913	hsa-miR-106a	CLIP-seq
MIRT2512914	hsa-miR-106b	CLIP-seq
MIRT1973506	hsa-miR-122	CLIP-seq
MIRT923132	hsa-miR-1276	CLIP-seq
MIRT2512915	hsa-miR-1587	CLIP-seq
MIRT2512916	hsa-miR-17	CLIP-seq
MIRT2386715	hsa-miR-1913	CLIP-seq
MIRT2512917	hsa-miR-197	CLIP-seq
MIRT2512918	hsa-miR-20a	CLIP-seq
MIRT2512919	hsa-miR-20b	CLIP-seq
MIRT2512920	hsa-miR-2115	CLIP-seq
MIRT2512921	hsa-miR-302a	CLIP-seq
MIRT2512922	hsa-miR-302b	CLIP-seq
MIRT2512923	hsa-miR-302c	CLIP-seq
MIRT2512924	hsa-miR-302d	CLIP-seq
MIRT2512925	hsa-miR-302e	CLIP-seq
MIRT1973507	hsa-miR-3135b	CLIP-seq
MIRT2512926	hsa-miR-3140-5p	CLIP-seq
MIRT2512927	hsa-miR-3145-3p	CLIP-seq
MIRT1973508	hsa-miR-3149	CLIP-seq
MIRT2386716	hsa-miR-3189-3p	CLIP-seq
MIRT2386717	hsa-miR-324-3p	CLIP-seq
MIRT2386718	hsa-miR-346	CLIP-seq
MIRT1973509	hsa-miR-3652	CLIP-seq
MIRT2512928	hsa-miR-372	CLIP-seq
MIRT2512929	hsa-miR-373	CLIP-seq
MIRT2448035	hsa-miR-411	CLIP-seq
MIRT2386719	hsa-miR-4274	CLIP-seq
MIRT2512930	hsa-miR-4423-5p	CLIP-seq
MIRT1973510	hsa-miR-4430	CLIP-seq
MIRT923137	hsa-miR-4496	CLIP-seq
MIRT2512931	hsa-miR-4539	CLIP-seq
MIRT2512932	hsa-miR-4674	CLIP-seq
MIRT2512933	hsa-miR-4680-5p	CLIP-seq
MIRT2512934	hsa-miR-4684-3p	CLIP-seq
MIRT2386720	hsa-miR-4707-3p	CLIP-seq
MIRT1973511	hsa-miR-4715-3p	CLIP-seq
MIRT2512935	hsa-miR-4716-5p	CLIP-seq
MIRT1973512	hsa-miR-4735-5p	CLIP-seq
MIRT1973513	hsa-miR-4775	CLIP-seq
MIRT2512936	hsa-miR-5096	CLIP-seq
MIRT2512937	hsa-miR-512-3p	CLIP-seq
MIRT2512938	hsa-miR-518a-5p	CLIP-seq
MIRT2512939	hsa-miR-519d	CLIP-seq
MIRT2512940	hsa-miR-520a-3p	CLIP-seq
MIRT2512941	hsa-miR-520b	CLIP-seq
MIRT2512942	hsa-miR-520c-3p	CLIP-seq
MIRT2512943	hsa-miR-520d-3p	CLIP-seq
MIRT2512944	hsa-miR-520e	CLIP-seq
MIRT2512945	hsa-miR-520g	CLIP-seq
MIRT2512946	hsa-miR-520h	CLIP-seq
MIRT2512947	hsa-miR-527	CLIP-seq
MIRT1973514	hsa-miR-590-3p	CLIP-seq
MIRT2386721	hsa-miR-622	CLIP-seq
MIRT2386722	hsa-miR-635	CLIP-seq
MIRT923138	hsa-miR-651	CLIP-seq
MIRT2512948	hsa-miR-93	CLIP-seq
MIRT1973506	hsa-miR-122	CLIP-seq
MIRT2209064	hsa-miR-1273d	CLIP-seq
MIRT2209066	hsa-miR-155	CLIP-seq
MIRT2209067	hsa-miR-1910	CLIP-seq
MIRT2512917	hsa-miR-197	CLIP-seq
MIRT2209069	hsa-miR-198	CLIP-seq
MIRT1973507	hsa-miR-3135b	CLIP-seq
MIRT1973508	hsa-miR-3149	CLIP-seq
MIRT1973509	hsa-miR-3652	CLIP-seq
MIRT2209071	hsa-miR-3665	CLIP-seq
MIRT2448035	hsa-miR-411	CLIP-seq
MIRT2209073	hsa-miR-4418	CLIP-seq
MIRT2209074	hsa-miR-4421	CLIP-seq
MIRT2512930	hsa-miR-4423-5p	CLIP-seq
MIRT1973510	hsa-miR-4430	CLIP-seq
MIRT2512934	hsa-miR-4684-3p	CLIP-seq
MIRT1973511	hsa-miR-4715-3p	CLIP-seq
MIRT2512935	hsa-miR-4716-5p	CLIP-seq
MIRT1973512	hsa-miR-4735-5p	CLIP-seq
MIRT1973513	hsa-miR-4775	CLIP-seq
MIRT2209076	hsa-miR-509-3-5p	CLIP-seq
MIRT2209077	hsa-miR-509-5p	CLIP-seq
MIRT2512936	hsa-miR-5096	CLIP-seq
MIRT2512938	hsa-miR-518a-5p	CLIP-seq
MIRT2209078	hsa-miR-520a-5p	CLIP-seq
MIRT2209079	hsa-miR-525-5p	CLIP-seq
MIRT2512947	hsa-miR-527	CLIP-seq
MIRT1973514	hsa-miR-590-3p	CLIP-seq
MIRT2209082	hsa-miR-657	CLIP-seq
MIRT2209083	hsa-miR-660	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ELK1	Unknown	19536094
ESRRA	Unknown	19536094

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003735	Function	Structural constituent of ribosome	IBA	21873635
GO:0005515	Function	Protein binding	IPI	19103604, 20563667
GO:0005525	Function	GTP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	20563667
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005763	Component	Mitochondrial small ribosomal subunit	IBA	21873635
GO:0005763	Component	Mitochondrial small ribosomal subunit	ISS
GO:0070125	Process	Mitochondrial translational elongation	TAS
GO:0070126	Process	Mitochondrial translational termination	TAS
GO:0097190	Process	Apoptotic signaling pathway	TAS	7499268

Other IDs

• MIM: 602074
• HGNC: 2673
• e!Ensembl: ENSG00000132676

Protein

• UniProt ID: P51398
• Protein name: Small ribosomal subunit protein mS29 (EC 3.6.5.-) (28S ribosomal protein S29, mitochondrial) (MRP-S29) (S29mt) (Death-associated protein 3) (DAP-3) (Ionizing radiation resistance conferring protein)
• Protein function: As a component of the mitochondrial small ribosomal subunit, it plays a role in the translation of mitochondrial mRNAs (PubMed:39701103). Involved in mediating interferon-gamma-induced cell death (PubMed:7499268). Displays GTPase activity in vit
• PDB: 3J9M, 6NU2, 6NU3, 6RW4, 6RW5, 6VLZ, 6VMI, 6ZM5, 6ZM6, 6ZS9, 6ZSA, 6ZSB, 6ZSC, 6ZSD, 6ZSE, 6ZSG, 7A5F, 7A5G, 7A5I, 7A5K, 7L08, 7OG4, 7P2E, 7PNX, 7PNY, 7PNZ, 7PO0, 7PO1, 7PO2, 7PO3, 7QI4, 7QI5, 7QI6, 8ANY, 8CSP, 8CSQ, 8CSR, 8CSS, 8CST, 8CSU, 8K2A, 8OIR, 8OIS, 8QRK, 8QRL, 8QRM, 8QRN, 8RRI, 8XT0, 8XT2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10236	DAP3	99 → 394	Mitochondrial ribosomal death-associated protein 3	Family

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

  MMLKGITRLISRIHKLDPGRFLHMGTQARQSIAAHLDNQVPVESPRAISRTNENDPAKHG
  DQHEGQHYNISPQDLETVFPHGLPPRFVMQVKTFSEACLMVRKPALELLHYLKNTSFAYP
  AIRYLLYGEKGTGKTLSLCHVIHFCAKQDWLILHIPDAHLWVKNCRDLLQSSYNKQRFDQ
  PLEASTWLKNFKTTNERFLNQIKVQEKYVWNKRESTEKGSPLGEVVEQGITRVRNATDAV
  GIVLKELKRQSSLGMFHLLVAVDGINALWGRTTLKREDKSPIAPEELALVHNLRKMMKND
  WHGGAIVSALSQTGSLFKPRKAYLPQELLGKEGFDALDPFIPILVSNYNPKEFESCIQYY
  LENNWLQHEKAPTEEGKKELLFLSNANPSLLERHCAYL

• Sequence length: 398

Pathways

Reactome:

Mitochondrial translation elongation
Mitochondrial translation termination

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	21466612
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	29059683, 21466612
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
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	21466612
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137

Unknown
Disease term	Disease name	Evidence	References	Source
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	26356813, 33401559, 37023702
Ataxia Telangiectasia	Associate	20079882
Breast Neoplasms	Associate	36382667
Carcinoma Hepatocellular	Associate	36028814, 36769187, 37400785
Cerebral Infarction	Associate	31436916
Colorectal Neoplasms	Associate	36382667
Gastritis Atrophic	Associate	17366642
Glioma	Associate	20079882
Neoplasms	Stimulate	19536094
Neoplasms	Associate	24150215, 32596459, 36382667
Stomach Neoplasms	Associate	24300973
Stroke	Associate	31436916
Thyroid Neoplasms	Associate	19536094