MRPS23 (mitochondrial ribosomal protein S23)

Gene

• Entrez ID: 51649
• Gene name: Mitochondrial ribosomal protein S23
• Gene symbol: MRPS23
• Synonyms (NCBI Gene): CGI-138, COXPD46, HSPC329, MRP-S23, mS23
• Disease Acronyms (UniProt): COXPD46
• Chromosome: 17
• Chromosome location: 17q22
• 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
MIRT031963	hsa-miR-16-5p	Proteomics	18668040
MIRT047269	hsa-miR-181b-5p	CLASH	23622248
MIRT041099	hsa-miR-503-5p	CLASH	23622248
MIRT040709	hsa-miR-92b-3p	CLASH	23622248
MIRT473005	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT473004	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT473003	hsa-miR-575	PAR-CLIP	20371350
MIRT473002	hsa-miR-3174	PAR-CLIP	20371350
MIRT473001	hsa-miR-4691-3p	PAR-CLIP	20371350
MIRT472999	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT472998	hsa-miR-3194-5p	PAR-CLIP	20371350
MIRT472996	hsa-miR-1257	PAR-CLIP	20371350
MIRT472995	hsa-miR-3157-5p	PAR-CLIP	20371350
MIRT472994	hsa-miR-6869-5p	PAR-CLIP	20371350
MIRT472993	hsa-miR-1202	PAR-CLIP	20371350
MIRT472992	hsa-miR-3972	PAR-CLIP	20371350
MIRT472991	hsa-miR-6831-5p	PAR-CLIP	20371350
MIRT473005	hsa-miR-5586-3p	PAR-CLIP	23592263
MIRT473004	hsa-miR-4676-5p	PAR-CLIP	23592263
MIRT473003	hsa-miR-575	PAR-CLIP	23592263
MIRT473002	hsa-miR-3174	PAR-CLIP	23592263
MIRT473001	hsa-miR-4691-3p	PAR-CLIP	23592263
MIRT473000	hsa-miR-338-3p	PAR-CLIP	23592263
MIRT472999	hsa-miR-574-5p	PAR-CLIP	23592263
MIRT472997	hsa-miR-5689	PAR-CLIP	23592263
MIRT472998	hsa-miR-3194-5p	PAR-CLIP	23592263
MIRT472996	hsa-miR-1257	PAR-CLIP	23592263
MIRT472995	hsa-miR-3157-5p	PAR-CLIP	23592263
MIRT472994	hsa-miR-6869-5p	PAR-CLIP	23592263
MIRT472993	hsa-miR-1202	PAR-CLIP	23592263
MIRT472992	hsa-miR-3972	PAR-CLIP	23592263
MIRT472991	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT473005	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT473004	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT473003	hsa-miR-575	PAR-CLIP	20371350
MIRT473002	hsa-miR-3174	PAR-CLIP	20371350
MIRT473001	hsa-miR-4691-3p	PAR-CLIP	20371350
MIRT472999	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT472998	hsa-miR-3194-5p	PAR-CLIP	20371350
MIRT472996	hsa-miR-1257	PAR-CLIP	20371350
MIRT472995	hsa-miR-3157-5p	PAR-CLIP	20371350
MIRT472994	hsa-miR-6869-5p	PAR-CLIP	20371350
MIRT472993	hsa-miR-1202	PAR-CLIP	20371350
MIRT472992	hsa-miR-3972	PAR-CLIP	20371350
MIRT472991	hsa-miR-6831-5p	PAR-CLIP	20371350
MIRT473005	hsa-miR-5586-3p	PAR-CLIP	23592263
MIRT473004	hsa-miR-4676-5p	PAR-CLIP	23592263
MIRT473003	hsa-miR-575	PAR-CLIP	23592263
MIRT473002	hsa-miR-3174	PAR-CLIP	23592263
MIRT473001	hsa-miR-4691-3p	PAR-CLIP	23592263
MIRT473000	hsa-miR-338-3p	PAR-CLIP	23592263
MIRT472999	hsa-miR-574-5p	PAR-CLIP	23592263
MIRT472997	hsa-miR-5689	PAR-CLIP	23592263
MIRT472998	hsa-miR-3194-5p	PAR-CLIP	23592263
MIRT472996	hsa-miR-1257	PAR-CLIP	23592263
MIRT472995	hsa-miR-3157-5p	PAR-CLIP	23592263
MIRT472994	hsa-miR-6869-5p	PAR-CLIP	23592263
MIRT472993	hsa-miR-1202	PAR-CLIP	23592263
MIRT472992	hsa-miR-3972	PAR-CLIP	23592263
MIRT472991	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT1160026	hsa-miR-1207-5p	CLIP-seq
MIRT1160027	hsa-miR-1303	CLIP-seq
MIRT1160028	hsa-miR-181a	CLIP-seq
MIRT1160029	hsa-miR-181b	CLIP-seq
MIRT1160030	hsa-miR-181c	CLIP-seq
MIRT1160031	hsa-miR-181d	CLIP-seq
MIRT1160032	hsa-miR-2110	CLIP-seq
MIRT1160033	hsa-miR-3129-3p	CLIP-seq
MIRT1160034	hsa-miR-3161	CLIP-seq
MIRT1160035	hsa-miR-369-3p	CLIP-seq
MIRT1160036	hsa-miR-3714	CLIP-seq
MIRT1160037	hsa-miR-3908	CLIP-seq
MIRT1160038	hsa-miR-3941	CLIP-seq
MIRT1160039	hsa-miR-3973	CLIP-seq
MIRT1160040	hsa-miR-4262	CLIP-seq
MIRT1160041	hsa-miR-4271	CLIP-seq
MIRT1160042	hsa-miR-4470	CLIP-seq
MIRT1160043	hsa-miR-4476	CLIP-seq
MIRT1160044	hsa-miR-452	CLIP-seq
MIRT1160045	hsa-miR-4639-3p	CLIP-seq
MIRT1160046	hsa-miR-466	CLIP-seq
MIRT1160047	hsa-miR-4667-5p	CLIP-seq
MIRT1160048	hsa-miR-4672	CLIP-seq
MIRT1160049	hsa-miR-4676-3p	CLIP-seq
MIRT1160050	hsa-miR-4699-3p	CLIP-seq
MIRT1160051	hsa-miR-4700-5p	CLIP-seq
MIRT1160052	hsa-miR-4725-3p	CLIP-seq
MIRT1160053	hsa-miR-4763-3p	CLIP-seq
MIRT1160054	hsa-miR-4803	CLIP-seq
MIRT1160055	hsa-miR-494	CLIP-seq
MIRT1160056	hsa-miR-513a-3p	CLIP-seq
MIRT1160057	hsa-miR-520g	CLIP-seq
MIRT1160058	hsa-miR-520h	CLIP-seq
MIRT1160059	hsa-miR-543	CLIP-seq
MIRT1160060	hsa-miR-545	CLIP-seq
MIRT1160061	hsa-miR-548a-5p	CLIP-seq
MIRT1160062	hsa-miR-548aa	CLIP-seq
MIRT1160063	hsa-miR-548ab	CLIP-seq
MIRT1160064	hsa-miR-548ak	CLIP-seq
MIRT1160065	hsa-miR-548b-5p	CLIP-seq
MIRT1160066	hsa-miR-548c-3p	CLIP-seq
MIRT1160067	hsa-miR-548c-5p	CLIP-seq
MIRT1160068	hsa-miR-548d-5p	CLIP-seq
MIRT1160069	hsa-miR-548h	CLIP-seq
MIRT1160070	hsa-miR-548i	CLIP-seq
MIRT1160071	hsa-miR-548j	CLIP-seq
MIRT1160072	hsa-miR-548w	CLIP-seq
MIRT1160073	hsa-miR-548y	CLIP-seq
MIRT1160074	hsa-miR-559	CLIP-seq
MIRT1160075	hsa-miR-646	CLIP-seq
MIRT1160076	hsa-miR-940	CLIP-seq
MIRT2045972	hsa-miR-1912	CLIP-seq
MIRT2045973	hsa-miR-23a	CLIP-seq
MIRT2045974	hsa-miR-23b	CLIP-seq
MIRT2045975	hsa-miR-23c	CLIP-seq
MIRT1160033	hsa-miR-3129-3p	CLIP-seq
MIRT2045976	hsa-miR-3182	CLIP-seq
MIRT1160035	hsa-miR-369-3p	CLIP-seq
MIRT1160038	hsa-miR-3941	CLIP-seq
MIRT1160042	hsa-miR-4470	CLIP-seq
MIRT2045977	hsa-miR-4504	CLIP-seq
MIRT1160046	hsa-miR-466	CLIP-seq
MIRT1160048	hsa-miR-4672	CLIP-seq
MIRT1160050	hsa-miR-4699-3p	CLIP-seq
MIRT1160054	hsa-miR-4803	CLIP-seq
MIRT2045978	hsa-miR-542-3p	CLIP-seq
MIRT2045979	hsa-miR-548n	CLIP-seq
MIRT2045980	hsa-miR-548t	CLIP-seq
MIRT2045981	hsa-miR-549	CLIP-seq
MIRT2045982	hsa-miR-676	CLIP-seq
MIRT2045983	hsa-miR-758	CLIP-seq
MIRT2275049	hsa-miR-1321	CLIP-seq
MIRT2275050	hsa-miR-144	CLIP-seq
MIRT1160028	hsa-miR-181a	CLIP-seq
MIRT1160029	hsa-miR-181b	CLIP-seq
MIRT1160030	hsa-miR-181c	CLIP-seq
MIRT1160031	hsa-miR-181d	CLIP-seq
MIRT2275051	hsa-miR-1827	CLIP-seq
MIRT2045973	hsa-miR-23a	CLIP-seq
MIRT2045974	hsa-miR-23b	CLIP-seq
MIRT2045975	hsa-miR-23c	CLIP-seq
MIRT2275052	hsa-miR-3165	CLIP-seq
MIRT2045976	hsa-miR-3182	CLIP-seq
MIRT2275053	hsa-miR-3612	CLIP-seq
MIRT2275054	hsa-miR-3665	CLIP-seq
MIRT2275055	hsa-miR-3691-5p	CLIP-seq
MIRT2275056	hsa-miR-3944-5p	CLIP-seq
MIRT1160040	hsa-miR-4262	CLIP-seq
MIRT2275057	hsa-miR-4270	CLIP-seq
MIRT2275058	hsa-miR-4441	CLIP-seq
MIRT2275059	hsa-miR-4650-5p	CLIP-seq
MIRT1160048	hsa-miR-4672	CLIP-seq
MIRT1160050	hsa-miR-4699-3p	CLIP-seq
MIRT2275060	hsa-miR-4724-5p	CLIP-seq
MIRT2275061	hsa-miR-4736	CLIP-seq
MIRT2275062	hsa-miR-4739	CLIP-seq
MIRT2275063	hsa-miR-4756-5p	CLIP-seq
MIRT1160054	hsa-miR-4803	CLIP-seq
MIRT1160059	hsa-miR-543	CLIP-seq
MIRT1160066	hsa-miR-548c-3p	CLIP-seq
MIRT2045979	hsa-miR-548n	CLIP-seq
MIRT2045980	hsa-miR-548t	CLIP-seq
MIRT2045981	hsa-miR-549	CLIP-seq
MIRT2275064	hsa-miR-650	CLIP-seq
MIRT1160076	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0005515	Function	Protein binding	IPI	24965446, 25416956, 32296183
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005840	Component	Ribosome	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0070125	Process	Mitochondrial translational elongation	TAS
GO:0070126	Process	Mitochondrial translational termination	TAS

Other IDs

• MIM: 611985
• HGNC: 14509
• e!Ensembl: ENSG00000181610

Protein

• UniProt ID: Q9Y3D9
• Protein name: Small ribosomal subunit protein mS23 (28S ribosomal protein S23, mitochondrial) (MRP-S23) (S23mt)
• 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
  PF10484	MRP-S23	2 → 130	Mitochondrial ribosomal protein S23	Family

• Sequence:

  MAGSRLETVGSIFSRTRDLVRAGVLKEKPLWFDVYDAFPPLREPVFQRPRVRYGKAKAPI
  QDIWYHEDRIRAKFYSVYGSGQRAFDLFNPNFKSTCQRFVEKYTELQKLGETDEEKLFVE
  TGKALLAEGVILRRVGEARTQHGGSHVSRKSEHLSVRPQTALEENETQKEVPQDQHLEAP
  ADQSKGLLPP

• Sequence length: 190

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	25151356
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	25151356
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	25151356

Unknown
Disease term	Disease name	Evidence	References	Source
Combined Oxidative Phosphorylation Deficiency	combined oxidative phosphorylation deficiency 46			GenCC
Gout	Gout			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	38086984
Breast Neoplasms	Associate	25151356, 31950385
Calcinosis Cutis	Associate	17054779
Carcinoma Hepatocellular	Associate	28714366
Colorectal Neoplasms	Associate	32828126
Consciousness Disorders	Associate	38086984
Death	Associate	31950385
Hearing Loss	Associate	38086984
Hypoglycemia	Associate	38086984
Liver Failure	Associate	38086984
Mitochondrial Diseases	Inhibit	26741492
Mitochondrial Diseases	Associate	38086984
Neoplasms	Associate	31950385
Uterine Cervical Neoplasms	Associate	17054779
Vomiting	Associate	38086984