DGUOK (deoxyguanosine kinase)

Gene

• Entrez ID: 1716
• Gene name: Deoxyguanosine kinase
• Gene symbol: DGUOK
• Synonyms (NCBI Gene): MTDPS3, NCPH, NCPH1, PEOB4, dGK
• Disease Acronyms (UniProt): MTDPS3, NCPH1, PEOB4
• Chromosome: 2
• Chromosome location: 2p13.1
• Summary: In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74874677	A>G	Benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs104893630	C>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs104893631	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs104893632	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs115206553	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, non coding transcript variant, synonymous variant, coding sequence variant
rs140307681	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs144181978	T>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs147551003	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs150678946	G>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs375686551	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs536746349	C>G	Pathogenic, pathogenic-likely-pathogenic	Intron variant
rs587780587	T>C	Likely-pathogenic	Intron variant, missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs748597500	G>A	Pathogenic	Synonymous variant, intron variant, coding sequence variant, non coding transcript variant
rs762550967	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs763615602	A>G	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs770950831	A>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs775871024	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, synonymous variant, intron variant, coding sequence variant
rs863223948	G>C,T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs863223949	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs879255617	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant, non coding transcript variant
rs886037613	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs886037615	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1057524864	G>A	Pathogenic	Splice donor variant, intron variant
rs1204316787	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs1553401827	T>A	Likely-pathogenic	Splice donor variant, intron variant
rs1553403687	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1558650352	AA>T	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1573582059	T>G	Likely-pathogenic	Intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT934327	hsa-miR-1273g	CLIP-seq
MIRT934328	hsa-miR-3689a-3p	CLIP-seq
MIRT934329	hsa-miR-3689c	CLIP-seq
MIRT934330	hsa-miR-4267	CLIP-seq
MIRT934331	hsa-miR-4270	CLIP-seq
MIRT934332	hsa-miR-4293	CLIP-seq
MIRT934333	hsa-miR-4425	CLIP-seq
MIRT934334	hsa-miR-4441	CLIP-seq
MIRT934335	hsa-miR-4685-5p	CLIP-seq
MIRT934336	hsa-miR-495	CLIP-seq
MIRT934337	hsa-miR-526b	CLIP-seq
MIRT934338	hsa-miR-759	CLIP-seq
MIRT934339	hsa-miR-876-3p	CLIP-seq
MIRT934340	hsa-miR-1305	CLIP-seq
MIRT934341	hsa-miR-3977	CLIP-seq
MIRT934342	hsa-miR-4470	CLIP-seq
MIRT934343	hsa-miR-4698	CLIP-seq
MIRT934344	hsa-miR-570	CLIP-seq
MIRT934345	hsa-miR-607	CLIP-seq
MIRT934338	hsa-miR-759	CLIP-seq
MIRT934331	hsa-miR-4270	CLIP-seq
MIRT934332	hsa-miR-4293	CLIP-seq
MIRT934334	hsa-miR-4441	CLIP-seq
MIRT2211945	hsa-miR-4539	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004136	Function	Deoxyadenosine kinase activity	IEA
GO:0004138	Function	Deoxyguanosine kinase activity	IBA	21873635
GO:0004138	Function	Deoxyguanosine kinase activity	IDA	8706825
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006170	Process	DAMP biosynthetic process	IEA
GO:0006468	Process	Protein phosphorylation	IEA
GO:0006754	Process	ATP biosynthetic process	IEA
GO:0008617	Process	Guanosine metabolic process	TAS	8692979
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0019136	Function	Deoxynucleoside kinase activity	IBA	21873635
GO:0042775	Process	Mitochondrial ATP synthesis coupled electron transport	IEA
GO:0043101	Process	Purine-containing compound salvage	TAS
GO:0046070	Process	DGTP metabolic process	IEA
GO:0046122	Process	Purine deoxyribonucleoside metabolic process	IDA	8706825

Other IDs

• MIM: 601465
• HGNC: 2858
• e!Ensembl: ENSG00000114956

Protein

• UniProt ID: Q16854
• Protein name: Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113) (Deoxyadenosine kinase, mitochondrial) (EC 2.7.1.76)
• Protein function: Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:11687801, PubMed:17073823, PubMed:23043144, PubMed:8692979, PubMed:8706825). In non-replicating cells, where cyt
• PDB: 2OCP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01712	dNK	41 → 275	Deoxynucleoside kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues. {ECO:0000269|PubMed:8706825}.
• Sequence:

  MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTK
  TYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLK
  VQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEF
  ASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFE
  ALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL

• Sequence length: 277

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Nucleotide metabolism

Reactome:

Purine salvage

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	17538929
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Mitochondrial dna depletion syndrome, hepatocerebral	MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE), Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	rs886037613, rs104893630, rs763706988, rs886037615, rs104893631, rs104893632, rs104893633, rs587780587, rs863223949, rs763615602, rs886037846, rs150678946, rs749464475, rs770950831, rs1573582059	11687800, 15883261, 9175742, 12205643, 15639197, 27604308, 17538929
Mitochondrial dna depletion syndrome	MITOCHONDRIAL DNA DEPLETION SYNDROME 3	rs121918307, rs515726185, rs121918308, rs121918309, rs2137715433, rs113994161, rs121908537, rs121908538, rs118192101, rs137854429, rs137854431, rs113994099, rs121918046, rs113994098, rs121918050, rs121918056, rs267606959, rs121909721, rs121909722, rs121909723, rs121909724, rs121913036, rs797044454, rs121913037, rs149977726, rs786205097, rs797044455, rs786205098, rs121913038, rs28931613, rs767245071, rs121913039, rs121913040, rs121913041, rs267607097, rs267607099, rs786205871, rs267607098, rs113994093, rs397507438, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs267607267, rs267607260, rs267607268, rs281865499, rs138439950, rs281865489, rs281865507, rs281865493, rs281865492, rs281865494, rs137886900, rs281865501, rs201889294, rs398123060, rs398123061, rs398123062, rs515726180, rs515726181, rs515726196, rs201732356, rs796052888, rs200440128, rs797046017, rs777604559, rs138479499, rs863224914, rs1064792855, rs1054084896, rs1064792857, rs1064792858, rs749827433, rs891107196, rs1064792860, rs1064792861, rs1064792862, rs199901350, rs1064792863, rs1064792864, rs1064792865, rs1064792866, rs1064792867, rs1064792868, rs1064792870, rs866001342, rs1064792872, rs892141220, rs1060499532, rs1060499534, rs1064792874, rs764275775, rs11479, rs1064792876, rs770277446, rs1064792877, rs1064792878, rs1064792879, rs773785934, rs1064792880, rs1064792881, rs1556486467, rs1556486029, rs1064792885, rs1064792886, rs1064792887, rs1064792888, rs1060499535, rs1064792889, rs1064792890, rs1064792891, rs1064792892, rs772037717, rs879255542, rs878853112, rs765882664, rs886041625, rs139590686, rs766160589, rs1057519447, rs375401970, rs886044113, rs749361266, rs1064793178, rs1554215766, rs751656896, rs747618415, rs1554215804, rs1554215959, rs1554215964, rs1554215986, rs1443104983, rs1411907961, rs1227524799, rs1554216735, rs750973870, rs1554218789, rs754142863, rs758395213, rs773850151, rs1554218821, rs1187832552, rs1554219474, rs775768793, rs368965675, rs1257765682, rs1394080480, rs1554221189, rs1554221191, rs964532159, rs1350566881, rs1554221258, rs1345325140, rs761902417, rs767543583, rs761974928, rs761215749, rs1554222122, rs1554222130, rs766892502, rs747536886, rs1182326570, rs1556488264, rs761665644, rs775576189, rs1354582663, rs1423840146, rs113055360, rs1553383467, rs1553383480, rs1057524366, rs1471478620, rs796052053, rs775445970, rs1011464708, rs140992482, rs1308442327, rs1369567672, rs750388794, rs1180285291, rs1572542092, rs764792655, rs1582402094, rs1584622847, rs1572543564, rs1572542511, rs200938111, rs772370243, rs1572555080, rs1582425360, rs1251044974, rs1573369925, rs1573374828, rs1582425406, rs1593479845, rs1582367960, rs1203886148, rs1573369929, rs1389068504, rs765023287, rs1587178460, rs1587186073, rs761608162, rs760629248, rs1052593047, rs972696428	25655951, 12205643
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Polyneuropathy	Polyneuropathy	rs1597597437
Progressive external ophthalmoplegia with mitochondrial dna deletions	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4	rs111033572, rs111033573, rs111033574, rs111033575, rs111033576, rs111033577, rs28937887, rs111033579, rs80356543, rs267606682, rs104894632, rs121918310, rs104893631, rs137854431, rs113994099, rs113994095, rs121918044, rs121918045, rs113994098, rs121918051, rs121918054, rs121918055, rs104893873, rs104893874, rs104893876, rs28999114, rs515726199, rs515726201, rs137886900, rs281865495, rs397514659, rs1568079613, rs796052888, rs144500145, rs769410130, rs863223949, rs863224209, rs763615602, rs762550967, rs879255617, rs769827124, rs766294940, rs373442996, rs1057517675, rs1554887097, rs1554887213, rs200944917, rs376902371, rs1555453538, rs1567186779, rs758026634, rs1597981046, rs1596352300, rs775260762	23043144

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar
Peripheral axonal neuropathy	Peripheral axonal neuropathy			ClinVar
Progressive external ophthalmoplegia	Chronic progressive external ophthalmoplegia			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Rheumatoid arthritis	Rheumatoid arthritis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Inhibit	31633874
Adenoma Islet Cell	Associate	21107780
Alzheimer Disease	Associate	25311278
Cardiomyopathies	Associate	33484326
Cognition Disorders	Associate	23043144
Congenital Hyperinsulinism	Associate	38027095
Death	Associate	30509056, 31664948
Deoxyguanosine Kinase Deficiency	Inhibit	21107780
Deoxyguanosine Kinase Deficiency	Associate	32703289
Drug Related Side Effects and Adverse Reactions	Associate	9614068
Failure to Thrive	Associate	31664948
Fetal Growth Retardation	Associate	31664948
Glucose Metabolism Disorders	Associate	21107780
Hepatic Encephalopathy	Associate	31664948
Hyperinsulinism	Associate	21107780
Hyperplasia	Associate	21107780
Hypersensitivity Immediate	Associate	31633874
Iron Overload	Associate	21107780, 34026460
Jaundice	Associate	31664948
Liver Diseases	Associate	27482763
Liver Failure	Associate	21107780, 34026460, 38027095
Liver Failure Acute	Associate	22602837, 27482763, 27483465
Lung Neoplasms	Associate	31633874
Mitochondrial Diseases	Associate	27483465
Mitochondrial encephalopathy	Associate	33484326
Mitochondrial Myopathies	Associate	23043144
Motor Neuron Disease	Associate	23043144
Myelodysplastic Syndromes	Associate	19265691, 29052564
Neoplasm Metastasis	Inhibit	31633874
Neoplasms	Associate	31633874, 9614068
Ophthalmoplegia Chronic Progressive External	Associate	23043144
Rhabdomyolysis	Associate	23043144
Visceral myopathy familial external ophthalmoplegia	Associate	14623087, 17073823, 19265691, 21107780, 22011815, 22137549, 23043144, 26342080, 30509056, 31664948, 34026460, 38027095
Zellweger Syndrome	Associate	26342080