SLC25A10 (solute carrier family 25 member 10)

Gene

• Entrez ID: 1468
• Gene name: Solute carrier family 25 member 10
• Gene symbol: SLC25A10
• Synonyms (NCBI Gene): DIC, MTDPS19
• Disease Acronyms (UniProt): MTDPS19
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs114621664	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs200706742	G>A	Likely-pathogenic	Intron variant
rs1555703272	A>T	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023781	hsa-miR-1-3p	Proteomics	18668040
MIRT046668	hsa-miR-222-3p	CLASH	23622248
MIRT041535	hsa-miR-193b-3p	CLASH	23622248
MIRT443503	hsa-miR-4726-3p	PAR-CLIP	22100165
MIRT443503	hsa-miR-4726-3p	PAR-CLIP	22100165
MIRT1355071	hsa-miR-106a	CLIP-seq
MIRT1355072	hsa-miR-106b	CLIP-seq
MIRT1355073	hsa-miR-1287	CLIP-seq
MIRT1355074	hsa-miR-1301	CLIP-seq
MIRT1355075	hsa-miR-17	CLIP-seq
MIRT1355076	hsa-miR-1915	CLIP-seq
MIRT1355077	hsa-miR-20a	CLIP-seq
MIRT1355078	hsa-miR-20b	CLIP-seq
MIRT1355079	hsa-miR-302a	CLIP-seq
MIRT1355080	hsa-miR-302b	CLIP-seq
MIRT1355081	hsa-miR-302c	CLIP-seq
MIRT1355082	hsa-miR-302d	CLIP-seq
MIRT1355083	hsa-miR-302e	CLIP-seq
MIRT1355084	hsa-miR-3135b	CLIP-seq
MIRT1355085	hsa-miR-342-5p	CLIP-seq
MIRT1355086	hsa-miR-3688-3p	CLIP-seq
MIRT1355087	hsa-miR-3691-3p	CLIP-seq
MIRT1355088	hsa-miR-372	CLIP-seq
MIRT1355089	hsa-miR-373	CLIP-seq
MIRT1355090	hsa-miR-3943	CLIP-seq
MIRT1355091	hsa-miR-3978	CLIP-seq
MIRT1355092	hsa-miR-4651	CLIP-seq
MIRT1355093	hsa-miR-4664-5p	CLIP-seq
MIRT1355094	hsa-miR-4715-3p	CLIP-seq
MIRT1355095	hsa-miR-4729	CLIP-seq
MIRT1355096	hsa-miR-4786-3p	CLIP-seq
MIRT1355097	hsa-miR-5047	CLIP-seq
MIRT1355098	hsa-miR-512-3p	CLIP-seq
MIRT1355099	hsa-miR-519d	CLIP-seq
MIRT1355100	hsa-miR-520a-3p	CLIP-seq
MIRT1355101	hsa-miR-520b	CLIP-seq
MIRT1355102	hsa-miR-520c-3p	CLIP-seq
MIRT1355103	hsa-miR-520d-3p	CLIP-seq
MIRT1355104	hsa-miR-520e	CLIP-seq
MIRT1355105	hsa-miR-608	CLIP-seq
MIRT1355106	hsa-miR-7	CLIP-seq
MIRT1355107	hsa-miR-93	CLIP-seq
MIRT1355108	hsa-miR-938	CLIP-seq
MIRT2105169	hsa-miR-1293	CLIP-seq
MIRT1355074	hsa-miR-1301	CLIP-seq
MIRT2105170	hsa-miR-214	CLIP-seq
MIRT2105171	hsa-miR-22	CLIP-seq
MIRT2105172	hsa-miR-2467-3p	CLIP-seq
MIRT2105173	hsa-miR-3166	CLIP-seq
MIRT2105174	hsa-miR-3173-3p	CLIP-seq
MIRT2105175	hsa-miR-3175	CLIP-seq
MIRT2105176	hsa-miR-3612	CLIP-seq
MIRT2105177	hsa-miR-3619-5p	CLIP-seq
MIRT2105178	hsa-miR-3655	CLIP-seq
MIRT2105179	hsa-miR-3914	CLIP-seq
MIRT2105180	hsa-miR-3928	CLIP-seq
MIRT2105181	hsa-miR-3944-5p	CLIP-seq
MIRT2105182	hsa-miR-4291	CLIP-seq
MIRT2105183	hsa-miR-4428	CLIP-seq
MIRT2105184	hsa-miR-4483	CLIP-seq
MIRT2105185	hsa-miR-4521	CLIP-seq
MIRT1355092	hsa-miR-4651	CLIP-seq
MIRT2105186	hsa-miR-4660	CLIP-seq
MIRT2105187	hsa-miR-4707-3p	CLIP-seq
MIRT2105188	hsa-miR-4781-5p	CLIP-seq
MIRT2105189	hsa-miR-4787-5p	CLIP-seq
MIRT1355097	hsa-miR-5047	CLIP-seq
MIRT2105190	hsa-miR-519a	CLIP-seq
MIRT2105191	hsa-miR-519b-3p	CLIP-seq
MIRT2105192	hsa-miR-519c-3p	CLIP-seq
MIRT2105193	hsa-miR-548v	CLIP-seq
MIRT1355105	hsa-miR-608	CLIP-seq
MIRT2105194	hsa-miR-650	CLIP-seq
MIRT2105195	hsa-miR-761	CLIP-seq
MIRT2105196	hsa-miR-922	CLIP-seq
MIRT2329767	hsa-miR-103a	CLIP-seq
MIRT2329768	hsa-miR-107	CLIP-seq
MIRT2329769	hsa-miR-1205	CLIP-seq
MIRT2329770	hsa-miR-1260	CLIP-seq
MIRT2329771	hsa-miR-1260b	CLIP-seq
MIRT2329772	hsa-miR-1827	CLIP-seq
MIRT2329773	hsa-miR-1909	CLIP-seq
MIRT1355076	hsa-miR-1915	CLIP-seq
MIRT2105172	hsa-miR-2467-3p	CLIP-seq
MIRT1355085	hsa-miR-342-5p	CLIP-seq
MIRT2329774	hsa-miR-3605-5p	CLIP-seq
MIRT2105176	hsa-miR-3612	CLIP-seq
MIRT2105178	hsa-miR-3655	CLIP-seq
MIRT2329775	hsa-miR-3665	CLIP-seq
MIRT1355090	hsa-miR-3943	CLIP-seq
MIRT2329776	hsa-miR-4252	CLIP-seq
MIRT2329777	hsa-miR-4418	CLIP-seq
MIRT2329778	hsa-miR-4436b-3p	CLIP-seq
MIRT2329779	hsa-miR-4459	CLIP-seq
MIRT2329780	hsa-miR-4514	CLIP-seq
MIRT1355092	hsa-miR-4651	CLIP-seq
MIRT1355093	hsa-miR-4664-5p	CLIP-seq
MIRT2329781	hsa-miR-4692	CLIP-seq
MIRT2329782	hsa-miR-4746-3p	CLIP-seq
MIRT2329783	hsa-miR-509-3-5p	CLIP-seq
MIRT2329784	hsa-miR-509-5p	CLIP-seq
MIRT1355105	hsa-miR-608	CLIP-seq
MIRT2105194	hsa-miR-650	CLIP-seq
MIRT2329785	hsa-miR-663b	CLIP-seq
MIRT2329786	hsa-miR-665	CLIP-seq
MIRT2329787	hsa-miR-885-3p	CLIP-seq
MIRT1355108	hsa-miR-938	CLIP-seq
MIRT2105169	hsa-miR-1293	CLIP-seq
MIRT1355074	hsa-miR-1301	CLIP-seq
MIRT2105181	hsa-miR-3944-5p	CLIP-seq
MIRT2105184	hsa-miR-4483	CLIP-seq
MIRT1355092	hsa-miR-4651	CLIP-seq
MIRT2105186	hsa-miR-4660	CLIP-seq
MIRT2105188	hsa-miR-4781-5p	CLIP-seq
MIRT2105189	hsa-miR-4787-5p	CLIP-seq
MIRT1355097	hsa-miR-5047	CLIP-seq
MIRT2105193	hsa-miR-548v	CLIP-seq
MIRT1355105	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005310	Function	Dicarboxylic acid transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	19060904, 19447967, 21516116, 25416956, 31515488
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006811	Process	Ion transport	TAS
GO:0006835	Process	Dicarboxylic acid transport	TAS
GO:0006839	Process	Mitochondrial transport	IEA
GO:0008272	Process	Sulfate transport	IBA	21873635
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA	21873635
GO:0015117	Function	Thiosulfate transmembrane transporter activity	IBA	21873635
GO:0015131	Function	Oxaloacetate transmembrane transporter activity	IBA	21873635
GO:0015140	Function	Malate transmembrane transporter activity	IBA	21873635
GO:0015141	Function	Succinate transmembrane transporter activity	IBA	21873635
GO:0015297	Function	Antiporter activity	IBA	21873635
GO:0015709	Process	Thiosulfate transport	IBA	21873635
GO:0015729	Process	Oxaloacetate transport	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0035435	Process	Phosphate ion transmembrane transport	IBA	21873635
GO:0070221	Process	Sulfide oxidation, using sulfide:quinone oxidoreductase	TAS
GO:0071422	Process	Succinate transmembrane transport	IBA	21873635
GO:0071423	Process	Malate transmembrane transport	IBA	21873635
GO:1902356	Process	Oxaloacetate(2-) transmembrane transport	IEA
GO:1902358	Process	Sulfate transmembrane transport	IEA

Other IDs

• MIM: 606794
• HGNC: 10980
• e!Ensembl: ENSG00000183048

Protein

• UniProt ID: Q9UBX3
• Protein name: Mitochondrial dicarboxylate carrier (DIC) (Solute carrier family 25 member 10)
• Protein function: Catalyzes the electroneutral exchange or flux of physiologically important metabolites such as dicarboxylates (malonate, malate, succinate), inorganic sulfur-containing anions, and phosphate, across mitochondrial inner membrane (PubMed:29211846)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	5 → 93	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	95 → 192	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	196 → 284	Mitochondrial carrier protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Present in high amounts in liver and kidney, and at lower levels in all the other tissues analyzed. {ECO:0000269|PubMed:10585886}.
• Sequence:

  MAAEARVSRWYFGGLASCGAACCTHPLDLLKVHLQTQQEVKLRMTGMALRVVRTDGILAL
  YSGLSASLCRQMTYSLTRFAIYETVRDRVAKGSQGPLPFHEKVLLGSVSGLAGGFVGTPA
  DLVNVRMQNDVKLPQGQRRNYAHALDGLYRVAREEGLRRLFSGATMASSRGALVTVGQLS
  CYDQAKQLVLSTGYLSDNIFTHFVASFIAGGCATFLCQPLDVLKTRLMNSKGEYQGVFHC
  AVETAKLGPLAFYKGLVPAGIRLIPHTVLTFVFLEQLRKNFGIKVPS

• Sequence length: 287

Pathways

KEGG:

Proximal tubule bicarbonate reclamation

Reactome:

Sulfide oxidation to sulfate
Organic anion transporters
Gluconeogenesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12376462
Epileptic encephalopathy	Epileptic encephalopathy	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	29211846
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX I DEFICIENCY	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863, rs1554076324, rs104894554, rs1561102614, rs267606913, rs28939714, rs104894270, rs121908571, rs121908572, rs121908573, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs121908579, rs121908580, rs144885874, rs587776629, rs104894630, rs121434428, rs121434429, rs1445075330, rs121908985, rs104893898, rs104893899, rs28939679, rs121912639, rs1168752295, rs104894560, rs104894555, rs104894556, rs104894557, rs387906383, rs104894705, rs121434479, rs1568985256, rs9809219, rs137852767, rs1061517, rs137852768, rs28384199, rs267606890, rs267606888, rs104894884, rs104894885, rs121913659, rs768050261, rs121913660, rs121913661, rs397515383, rs199422224, rs199592341, rs387906872, rs387906873, rs387906929, rs387906956, rs368949613, rs115532916, rs377022708, rs1586636643, rs387907070, rs387907087, rs747166010, rs387907094, rs587776904, rs387907139, rs387907199, rs397514617, rs397514618, rs587776949, rs374661051, rs879255565, rs751631278, rs552722349, rs397515447, rs372691318, rs587777004, rs776388520, rs587777041, rs587777042, rs398124308, rs794726691, rs794726692, rs587777220, rs752513525, rs587777410, rs587777433, rs142441643, rs587777784, rs587777785, rs587777787, rs606231426, rs786205436, rs765093638, rs796052056, rs201430951, rs370009373, rs377025174, rs747956412, rs757982865, rs768720209, rs757486575, rs750831299, rs863224123, rs576780935, rs863224844, rs753711253, rs149753643, rs150283105, rs869025602, rs869025603, rs869025604, rs869025605, rs531254130, rs761389904, rs876658477, rs886037835, rs141542003, rs746165168, rs878854628, rs142609245, rs573006534, rs886037857, rs150613320, rs766454175, rs752670374, rs768768823, rs749196764, rs1057516255, rs1057519073, rs1057519414, rs1057519415, rs757043077, rs768273248, rs1057519084, rs1057519085, rs1057519086, rs199683937, rs776838028, rs367956888, rs1057521059, rs199754807, rs777501387, rs150966634, rs770131276, rs1555834773, rs1085307492, rs1131691065, rs781525096, rs370411488, rs1135402749, rs151279101, rs1555338209, rs1555695342, rs1555530551, rs1555703272, rs749110767, rs1348957889, rs867410737, rs1569463838, rs758833609, rs750830935, rs1023075742, rs1554599411, rs1555745989, rs376281345, rs772294726, rs1554076306, rs1554076309, rs536758576, rs765915512, rs1555066709, rs567437692, rs1239013578, rs1554843251, rs1554843434, rs781099275, rs763006208, rs747359752, rs3210083, rs1568344751, rs1242465339, rs1568346416, rs1485032272, rs750971390, rs767543623, rs1597176845, rs138275059, rs1171276645, rs1318084629, rs1598367619, rs1598368033, rs745332456, rs778516878, rs1603223730, rs146599698, rs1321888585, rs1579936916, rs1411237396, rs1591111808, rs1592704794, rs1600305570, rs1411381518, rs1426201422, rs759254294, rs1906247824, rs770749420, rs766026673, rs1475753965, rs1970827483	29211846

Unknown
Disease term	Disease name	Evidence	References	Source
Mitochondrial DNA Depletion Syndrome	mitochondrial DNA depletion syndrome 19			GenCC
Mitochondrial Diseases	mitochondrial disease			GenCC
Dental caries	Dental caries			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Inflammatory Bowel Diseases	Associate	31185018
Insulin Resistance	Associate	28570579
Leukemia Biphenotypic Acute	Associate	16999846
Leukemia Lymphocytic Chronic B Cell	Associate	14617003
Mitochondrial complex I deficiency	Associate	29211846
Mitochondrial Diseases	Associate	29211846
Neoplasms	Associate	25797253
Neoplasms Adipose Tissue	Associate	33550919
Neurodegenerative Diseases	Associate	29211846
Obesity	Associate	28570579
Ovarian Neoplasms	Associate	36114504
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	16999846
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	16999846
Weight Gain	Associate	33550919