COQ6 (coenzyme Q6, monooxygenase)

Gene

• Entrez ID: 51004
• Gene name: Coenzyme Q6, monooxygenase
• Gene symbol: COQ6
• Synonyms (NCBI Gene): CGI-10, CGI10, COQ10D6
• Disease Acronyms (UniProt): COQ10D6
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45496292	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023583	hsa-miR-1-3p	Proteomics	18668040
MIRT038047	hsa-miR-423-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27499296
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IBA	21873635
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IBA	21873635
GO:0016709	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0071949	Function	FAD binding	IEA

Other IDs

• MIM: 614647
• HGNC: 20233
• e!Ensembl: ENSG00000119723

Protein

• UniProt ID: Q9Y2Z9
• Protein name: Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial (EC 1.14.15.45) (2-methoxy-6-polyprenolphenol 4-hydroxylase) (EC 1.14.15.46) (Coenzyme Q10 monooxygenase 6)
• Protein function: FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis (PubMed:26260787, PubMed:38425362). Required for the C5-ring hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 4-hydr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01494	FAD_binding_3	188 → 316	FAD binding domain	Family
  PF01494	FAD_binding_3	328 → 427	FAD binding domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:21540551}.
• Sequence:

  MAARLVSRCGAVRAAPHSGPLVSWRRWSGASTDTVYDVVVSGGGLVGAAMACALGYDIHF
  HDKKILLLEAGPKKVLEKLSETYSNRVSSISPGSATLLSSFGAWDHICNMRYRAFRRMQV
  WDACSEALIMFDKDNLDDMGYIVENDVIMHALTKQLEAVSDRVTVLYRSKAIRYTWPCPF
  PMADSSPWVHITLGDGSTFQTKLLIGADGHNSGVRQAVGIQNVSWNYDQSAVVATLHLSE
  ATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHEHAAELVSMDEEKFVDAVNSAFWSD
  ADHTDFIDTAGAMLQYAVSLLKPTKVSARQLPPSVARVDAKSRVLFPLGLGHAAEYVRPR
  VALIGDAAHRVHPLAGQGVNMGFGDISSLAHHLSTAAFNGKDLGSVSHLTGYETERQRHN
  TALLAATDLLKRLYSTSASPLVLLRTWGLQATNAVSPLKEQIMAFASK

• Sequence length: 468

Pathways

KEGG:

Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Coenzyme q10 deficiency	COENZYME Q10 DEFICIENCY, PRIMARY, 6	rs118203955, rs121918230, rs121918231, rs121918233, rs864321686, rs750710187, rs1057519348, rs1558212305, rs1577993720	28044327, 21540551, 24140869, 27604308
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
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Neurofibromatosis	Neurofibromatosis 3, Neurofibromatosis, Type 3, mixed central and peripheral	rs2147483647, rs267606595, rs137854550, rs267606596, rs267606597, rs137854551, rs267606598, rs137854552, rs137854560, rs267606599, rs267606600, rs137854553, rs137854554, rs267606601, rs137854555, rs267606602, rs137854556, rs137854557, rs137854558, rs267606603, rs137854559, rs267606604, rs137854562, rs267606606, rs267606607, rs267606609, rs1567852567, rs137854563, rs267606610, rs137854564, rs137854565, rs137854566, rs1555619056, rs74315492, rs587776562, rs121434259, rs74315493, rs74315494, rs74315495, rs74315496, rs74315497, rs74315499, rs74315501, rs74315503, rs74315504, rs74315505, rs199474789, rs397514641, rs200962248, rs199474773, rs199474758, rs199474774, rs199474760, rs199474738, rs199474761, rs199474762, rs199474745, rs199474746, rs199474763, rs199474730, rs199474778, rs199474729, rs199474785, rs199474747, rs199474748, rs199474786, rs199474728, rs199474749, rs199474780, rs199474741, rs199474732, rs199474742, rs199474781, rs199474750, rs199474733, rs199474734, rs199474743, rs199474752, rs199474753, rs199474791, rs199474751, rs199474735, rs267604791, rs267604793, rs398122409, rs587781517, rs587781577, rs587781807, rs587782088, rs587782819, rs786203307, rs786201874, rs786203448, rs769048538, rs786203950, rs786202782, rs786202954, rs786202023, rs1321848637, rs786203614, rs786202112, rs786203896, rs772295894, rs786202457, rs786202180, rs786201367, rs786204255, rs786204059, rs768638173, rs786204154, rs786204211, rs786204253, rs786204207, rs786204157, rs794728682, rs797044942, rs797045139, rs771529172, rs863224488, rs863224655, rs863224489, rs863224446, rs863224490, rs863224445, rs863224447, rs786203390, rs863224491, rs863224835, rs1555535032, rs863224492, rs863224493, rs863224837, rs1555610774, rs1555613896, rs1555614169, rs1555614386, rs1555534307, rs864622107, rs864622161, rs864622142, rs864622431, rs760703505, rs864622551, rs786203570, rs864622509, rs864622639, rs1057519369, rs876657714, rs876657715, rs876658658, rs876658570, rs876660931, rs876660782, rs876660099, rs778405030, rs876660135, rs876658946, rs876658853, rs876660826, rs876660444, rs876658997, rs876658235, rs876660206, rs876658492, rs876660141, rs876660212, rs876658854, rs876660696, rs876658541, rs866445127, rs878853891, rs878853909, rs878853922, rs878853865, rs878853868, rs199474737, rs878853871, rs878853875, rs878853877, rs878853880, rs878853881, rs878853883, rs878853884, rs878853885, rs878853890, rs199474790, rs878853893, rs878853896, rs878853899, rs878853903, rs878853904, rs878853913, rs878853917, rs878853918, rs878853925, rs886039548, rs886041630, rs886041347, rs886041346, rs886041348, rs1057516197, rs1057518134, rs1057518360, rs1057518326, rs1057517848, rs1057517967, rs1057518884, rs1057518904, rs1057518842, rs1057518792, rs771820789, rs1057518974, rs1057518807, rs1057521097, rs1057521098, rs1057521848, rs1060500252, rs1060500321, rs1060500320, rs1057519370, rs1060500323, rs1060500284, rs1060500358, rs1555611584, rs1060500307, rs1060500278, rs1555614284, rs1060500254, rs1060500367, rs1555614313, rs1060500273, rs1060500308, rs1555614845, rs376576925, rs1060500370, rs1060500374, rs1060500276, rs1555618862, rs1555619397, rs1060500255, rs1555533366, rs1060500353, rs786203824, rs1555533871, rs1060500356, rs1060500354, rs1060500373, rs1060500385, rs1060500349, rs1060500300, rs1060500296, rs1060500268, rs1060500355, rs1060500286, rs1060500335, rs1060500333, rs1060500274, rs1060500301, rs1060500281, rs764079291, rs1060500331, rs1060500364, rs1060500357, rs1060500271, rs1060500319, rs1555618552, rs1064792912, rs1060500339, rs1060500363, rs1060500245, rs1060500338, rs1060500345, rs1060500342, rs1060500376, rs1060500347, rs1060500344, rs1060500327, rs1060500295, rs1060500368, rs371544233, rs1060500346, rs1060500242, rs1060500292, rs1060500378, rs1060500312, rs1060500266, rs1060500359, rs772348111, rs1060500387, rs1060503667, rs1060503670, rs1060503666, rs1064794273, rs1064796700, rs1064794274, rs1064796843, rs1064796331, rs1064794275, rs1064794277, rs1064794276, rs1555533628, rs1064794756, rs1064794278, rs1064796632, rs1085307728, rs755501749, rs1085307819, rs1085307459, rs1085307885, rs1131691101, rs1131691100, rs771764281, rs1131691119, rs1131691094, rs1131691118, rs1131691066, rs1131691106, rs1131691067, rs1131691085, rs1131691096, rs1131691130, rs1131691080, rs1131691132, rs1131691099, rs1131691095, rs1131691105, rs1131691069, rs1131691122, rs1131691112, rs1131691104, rs1131691127, rs1131691089, rs1131691092, rs1131691075, rs1131691077, rs1131691072, rs754023358, rs1131691098, rs1131691123, rs1131691103, rs267606605, rs1131691117, rs1131691125, rs1131691091, rs1131691084, rs1131691079, rs1131691093, rs1131691115, rs1131691073, rs1131691114, rs1131691090, rs1131691129, rs1131691994, rs1131691610, rs763983337, rs1135402787, rs1135402788, rs1135402789, rs1135402790, rs1135402791, rs1135402792, rs1135402793, rs1135402795, rs1135402796, rs1135402797, rs1135402798, rs1135402799, rs1135402800, rs1135402802, rs1135402803, rs1135402804, rs1135402805, rs1135402806, rs1135402808, rs1135402810, rs1135402811, rs1135402813, rs1135402814, rs1135402815, rs1135402817, rs1135402818, rs1135402819, rs1135402820, rs1135402822, rs753245823, rs1135402823, rs1135402825, rs1135402826, rs1135402827, rs1135402828, rs1135402829, rs1135402830, rs1135402831, rs1135402832, rs1135402833, rs1135402834, rs1135402836, rs1135402837, rs1135402838, rs1135402839, rs1135402840, rs1135402841, rs1135402842, rs1135402844, rs1135402846, rs867391752, rs1135402848, rs1135402849, rs1135402850, rs1135402851, rs1135402852, rs1135402855, rs1135402856, rs1135402857, rs1135402858, rs1135402859, rs1135402860, rs1135402861, rs1135402862, rs1135402863, rs1135402864, rs1135402865, rs1135402867, rs1135402868, rs1135402869, rs1135402872, rs1135402873, rs1135402875, rs1135402874, rs1135402876, rs1135402877, rs1135402878, rs1135402879, rs1135402880, rs1135402881, rs1135402883, rs1135402884, rs1135402885, rs1135402887, rs1135402888, rs1135402889, rs1135402890, rs1135402891, rs1135402892, rs1135402893, rs1135402894, rs1135402895, rs1135402897, rs1135402898, rs1135402899, rs1135402900, rs1135402901, rs1135402902, rs1135402903, rs1135402904, rs1135402905, rs1135402906, rs1135402907, rs1135402908, rs1555607112, rs1555610910, rs1555613206, rs1555614833, rs1555614972, rs1555534596, rs1556000842, rs1555536868, rs1555606061, rs1555607102, rs1555611043, rs1555613795, rs1555613983, rs1555614529, rs752039618, rs863224660, rs1279529138, rs1555533292, rs1555533566, rs1555535417, rs1555536035, rs1555536340, rs1555536773, rs1555605398, rs1555608763, rs1555612815, rs1555614022, rs1555614437, rs1555614652, rs1555614947, rs1555615111, rs1555615445, rs1555618634, rs1555533555, rs1555986860, rs1556001351, rs1555605409, rs1555606137, rs1555610848, rs1555610893, rs1555611039, rs1555611610, rs1555612294, rs1555612866, rs1555613786, rs1555614418, rs1428885377, rs1555614635, rs1555615032, rs1555615472, rs1555615497, rs1555617383, rs1555618996, rs1555533354, rs1555533543, rs1555534751, rs1555536334, rs1555536724, rs1555608924, rs1555612289, rs1060500352, rs1555613558, rs555635097, rs1555614438, rs1555614549, rs1555614634, rs1555604899, rs1555614825, rs1555610881, rs1555611004, rs1555614963, rs754639587, rs1555614180, rs1555533323, rs1555614455, rs1555533336, rs1555533889, rs1555614977, rs1555534917, rs1555534964, rs1555618533, rs1555610900, rs199474754, rs1555536683, rs1555533290, rs1555613831, rs1555533648, rs1555614229, rs1555614310, rs1555614343, rs1555614458, rs1555614462, rs1555534379, rs1555534611, rs1555614526, rs1555534775, rs1555534966, rs1555614858, rs1555614866, rs1555615004, rs1555535042, rs1555615027, rs1555535192, rs775181940, rs1555615567, rs1555618511, rs1555618515, rs1418965797, rs1555618821, rs1555536923, rs1555619052, rs1555533284, rs1555533297, rs1555533393, rs1555535050, rs1555536765, rs1555993345, rs1555993352, rs1555994819, rs1555993336, rs1555987647, rs1556003799, rs771115661, rs1555607107, rs1555611089, rs1555613427, rs894292181, rs1555613932, rs1555607073, rs375188075, rs1555614642, rs1555614914, rs1555613975, rs1555618489, rs1555618542, rs1555618656, rs1555614296, rs1555614940, rs1555533621, rs1555534673, rs1555535177, rs1555536352, rs1555536359, rs1555536689, rs1329683225, rs1555533875, rs1555611105, rs1555617368, rs1555619391, rs1555536687, rs1555533368, rs1555619413, rs1555608928, rs1555613743, rs1555613816, rs1555618999, rs1555534393, rs1462287670, rs1555534433, rs1555534677, rs1193716348, rs1555536380, rs1555604897, rs1555605404, rs753529924, rs1555612266, rs1555612270, rs1555613843, rs1555614211, rs1555618572, rs948982039, rs1555533552, rs1555533561, rs1555534378, rs1555535434, rs1555536701, rs1555536928, rs1555978356, rs780872661, rs1555614460, rs1555614653, rs1555533549, rs1555619041, rs1555619033, rs1555533853, rs1555536030, rs1555614521, rs1555536358, rs1555535403, rs1555534929, rs1555614207, rs1555615109, rs1555618803, rs1555607110, rs1555608647, rs1555611110, rs1555612274, rs1555614338, rs1555614423, rs1555614464, rs1555614966, rs1555617354, rs1555607093, rs1555618994, rs1555533326, rs1555534600, rs587778548, rs1555604935, rs1555605406, rs1555606053, rs181397225, rs1555536372, rs1555536947, rs1555610854, rs1555614535, rs1555614848, rs1187097568, rs147955381, rs1555614342, rs1555618528, rs1555533644, rs1420779915, rs1555534661, rs1555534766, rs1555615431, rs1555615458, rs1555617328, rs1555535455, rs1555618846, rs1555536882, rs1555594500, rs1555611590, rs1555613567, rs1555613784, rs1555614293, rs1555614514, rs1555615071, rs1252674239, rs1555618492, rs1555618658, rs1555618693, rs1555618806, rs1555619402, rs1555533883, rs1555534697, rs1555534770, rs1555534950, rs1555535023, rs917257652, rs1555998851, rs1555993313, rs1555533382, rs1438566555, rs1555610905, rs1555534955, rs1555613421, rs1555613933, rs1555604939, rs1555605362, rs1555607126, rs1555608734, rs1555608740, rs1555608972, rs766011053, rs1555610884, rs1555610896, rs1555610898, rs1555610903, rs1555610955, rs1555610971, rs1555610972, rs1555610984, rs1555611098, rs1131691131, rs1555612273, rs1555612286, rs1316926587, rs1555612859, rs1555612867, rs1555613185, rs953440640, rs1555613430, rs1555613543, rs1555613773, rs1555613821, rs1270674587, rs1555613926, rs1555613999, rs1555614260, rs1555614261, rs1555614319, rs1555614354, rs1555614358, rs1555614426, rs1555614429, rs1555614495, rs1555614611, rs1555614624, rs1555614862, rs1555614867, rs876659289, rs1555614918, rs1555614934, rs1555615039, rs1555615103, rs1555615114, rs1555615467, rs1555615469, rs1555615495, rs1555615549, rs1555617364, rs1555618494, rs876660428, rs773151680, rs1555619001, rs1555619029, rs1555619395, rs1555619404, rs1555619416, rs1555533359, rs1555533363, rs1555533416, rs1555533548, rs1555533569, rs1555533636, rs1555533641, rs1555533856, rs1475358670, rs1555533882, rs1555533887, rs1555534595, rs1555534621, rs1555534680, rs1555534712, rs1555534893, rs1555534913, rs1555534918, rs1555534919, rs1555534928, rs1555534952, rs1555535027, rs1555535041, rs1057523533, rs1555535053, rs1555535163, rs1555535171, rs1555535448, rs1555536685, rs567988442, rs1555537029, rs1555537032, rs1555978369, rs1555987732, rs1555992948, rs1555993301, rs1556002457, rs1556002536, rs1556003801, rs1567820688, rs1567845818, rs775670722, rs1567847972, rs1348129244, rs1567611231, rs753463683, rs1567612488, rs1567613569, rs1567615902, rs1567617877, rs1567627286, rs1567816131, rs1567817841, rs1567817865, rs1567820771, rs1567826110, rs745804540, rs1567826188, rs1567826633, rs1567835161, rs1567835183, rs1282299543, rs1567845906, rs1567845945, rs1567847538, rs1567847962, rs1567848755, rs1567851416, rs878853892, rs760949880, rs1567861977, rs1567862283, rs1567863614, rs1567611375, rs1567611457, rs1567616894, rs1567617158, rs1567623439, rs1567817974, rs1567838311, rs1567843930, rs1567845116, rs915463951, rs1567845937, rs1567847384, rs1567847398, rs1567786829, rs1567847571, rs1567847905, rs1567848178, rs1567848739, rs1567814432, rs1567818033, rs1567825858, rs1567825887, rs201047812, rs1567851231, rs1567834983, rs1567851532, rs1567843934, rs1567845069, rs1567852753, rs1567852849, rs1567858344, rs1567862956, rs1567862991, rs1567864972, rs1567846634, rs1567611351, rs1567611380, rs1567611604, rs1567612415, rs1567612435, rs1567848704, rs1567617045, rs199474739, rs777872719, rs767805288, rs1567627138, rs1567851029, rs1567851054, rs1567851445, rs1567862860, rs1567863580, rs1567863648, rs1567612483, rs1567613604, rs1567615872, rs1567617129, rs1567617727, rs1567618250, rs1567619134, rs1567623480, rs1567626632, rs1567627210, rs1567627755, rs1569293488, rs1569302393, rs1555994854, rs1569304774, rs1567786905, rs1567814632, rs1567826819, rs1567835847, rs1241533665, rs1567838293, rs1567843917, rs1567845935, rs1567848100, rs1567848129, rs1567848213, rs533210843, rs1567848731, rs1567848976, rs1567849864, rs1567850984, rs1567858318, rs1567864983, rs1567612531, rs1567612647, rs1567613682, rs1567615941, rs1567617849, rs1567626945, rs1567627217, rs1567627751, rs1567848761, rs1567847681, rs1567848878, rs1567849199, rs1567626919, rs786203038, rs766585105, rs1555534667, rs1567862095, rs1567627709, rs587781747, rs1567849237, rs1567615766, rs1567615852, rs1567627268, rs1567814497, rs1567849891, rs1567865089, rs876659070, rs1567862071, rs1567623508, rs1597712251, rs1597719490, rs1555614011, rs1597851255, rs1597862012, rs753054046, rs1597832304, rs1597617010, rs1597845155, rs1598173737, rs1060500324, rs1597626094, rs1597629724, rs1597629765, rs1597629809, rs1597629813, rs746824139, rs1060500360, rs1597629882, rs1597635740, rs1597635825, rs1597635936, rs1597658676, rs1597659883, rs1597659893, rs1555608970, rs1597680909, rs1597680938, rs1466912192, rs1597681864, rs1597681960, rs1597682137, rs1597688896, rs1597708728, rs1597708762, rs1597710358, rs1597710497, rs1597710793, rs1597712398, rs1597712535, rs1597712619, rs777759192, rs1597713360, rs1597713777, rs1597715179, rs1597715284, rs1597715646, rs1597715649, rs1597715673, rs1597716432, rs1597716910, rs2067091515, rs1597716924, rs1597717610, rs1597717672, rs1597718735, rs1597719471, rs1597719535, rs1131691121, rs1597719619, rs1430634618, rs1597719643, rs1597719704, rs1597719982, rs1597722429, rs1597722508, rs1597735166, rs1597735186, rs1597735273, rs1597745663, rs1597745728, rs1597746982, rs1597747012, rs1597748682, rs1597748742, rs1597748782, rs1597753176, rs1597753263, rs1597753353, rs1597829519, rs1597829557, rs1597829749, rs140994965, rs1597831854, rs1597831990, rs1597832223, rs1597832235, rs1597832360, rs1597832482, rs1597834703, rs774893767, rs1597834820, rs1198491194, rs1597834952, rs1597840273, rs1597843052, rs1597843675, rs1555534859, rs1597843836, rs1597843853, rs1597844556, rs1597845013, rs1597845926, rs1597848201, rs1597851351, rs1597851420, rs1597858459, rs1597858594, rs1597859558, rs1597859566, rs1597859719, rs1597859768, rs1597859871, rs1597862293, rs1597866350, rs1597866414, rs1597866897, rs1597866998, rs1597868171, rs1597868244, rs1597868832, rs1597870141, rs1601515970, rs1601618646, rs1601643866, rs1601649018, rs1601666156, rs1601666191, rs1597629679, rs1597682182, rs1597698310, rs1597706620, rs876657932, rs1597832498, rs1597834988, rs1597858338, rs1597867039, rs1597643722, rs1597681200, rs1597716256, rs1597722374, rs1597831805, rs1597844547, rs1597626161, rs1597713259, rs1597715880, rs1597716274, rs1597717694, rs1597844692, rs1601612044, rs1601652425, rs1597682922, rs1060500253, rs1597706610, rs1597716778, rs1601613230, rs1597851489, rs1597830046, rs2067017409, rs2067066952, rs2067137617, rs2067142728, rs2069329829, rs2069743612, rs1597715286, rs1555614226, rs1597716817, rs1597680978, rs1555605393, rs1597635722, rs1597682729, rs1597710342, rs1597710658, rs1202226733, rs1597712758, rs1597719504, rs758915600, rs1597745583, rs1597745689, rs1597746891, rs1597746962, rs1597829906, rs1597829913, rs1597829969, rs1597832021, rs1597840055, rs1597843096, rs876659768, rs1597862010, rs1597865858, rs1597866921, rs1601579095, rs1601579295, rs1601611973, rs1601618501, rs1601624078, rs1601624296, rs1601636894, rs1601644146, rs1601648452, rs1601649049, rs1567848711, rs1601643896, rs1597832056, rs2230852, rs1555619051, rs1597842843, rs1597866846, rs1597629649, rs1243948503, rs1597643692, rs1597657969, rs1597658505, rs1597659694, rs538708444, rs758206740, rs1597688656, rs1597688663, rs1597688674, rs1597706578, rs1597706592, rs1597708558, rs1597708581, rs770211384, rs1597713206, rs778325867, rs1597713670, rs1597715031, rs773710071, rs1597715061, rs1597716765, rs1597717471, rs773097190, rs764783865, rs1597734976, rs1597746884, rs1597748607, rs1597748617, rs1597748656, rs1597839926, rs1411146465, rs1597842697, rs374014162, rs1597843640, rs1597844950, rs1597845886, rs1597851210, rs1597858261, rs1597858284, rs747382969, rs1597866743, rs1597866792, rs1597635745, rs778963145, rs1597706737, rs1597635615, rs1597682751, rs1597712392, rs1597832043, rs1597843186, rs1597660090, rs1597682030, rs1597682159, rs1597698330, rs1597710409, rs1597710675, rs1597710690, rs1597720036, rs1597832002, rs1597834842, rs1597843782, rs1597844653, rs1597858445, rs1597689068, rs1597748995, rs1597868312, rs1597866554, rs1430988476, rs2065792758, rs2065792921, rs2065794400, rs2065795260, rs2066138676, rs2066505751, rs2066507116, rs2066507556, rs2066508538, rs2066519656, rs2066520848, rs2066527734, rs2066619128, rs2066785949, rs2066787009, rs2066787606, rs1952238027, rs2066874267, rs2066874419, rs2066874810, rs2066876556, rs2066877516, rs761199437, rs2066962518, rs2066962730, rs2066989409, rs2066990036, rs2066990429, rs2066990975, rs2066992658, rs2067016480, rs2067019858, rs2067030828, rs2067031065, rs2067031123, rs2067031470, rs2067038509, rs2067065846, rs2067069052, rs2067071059, rs1282493551, rs2067073056, rs2067074098, rs1567849184, rs2067074457, rs2067083695, rs753082620, rs2067091045, rs2067091646, rs2067091912, rs2067091885, rs2067122084, rs2067122345, rs2067122982, rs2067123493, rs2067123964, rs2067124493, rs2067134394, rs2067135666, rs2067137517, rs199474764, rs1597720167, rs2067186801, rs2067188114, rs2067189266, rs2067189853, rs2067193558, rs2067193761, rs2067194538, rs2067194816, rs2067449346, rs2067449536, rs2067450400, rs2067450430, rs1597735272, rs2067621208, rs2067621912, rs2067623178, rs2067623782, rs2067635955, rs2067664784, rs2067689582, rs2069325928, rs2069326761, rs2069329312, rs2069330560, rs2069331850, rs2069336015, rs2069376426, rs2069382585, rs2069382639, rs786202177, rs2069383586, rs2069448326, rs2069448374, rs2069448879, rs1567613595, rs2069449497, rs2069454068, rs2069454362, rs2069602711, rs2069670563, rs2069682584, rs2069687965, rs2069691007, rs2069691055, rs2069704625, rs1353492847, rs2069704915, rs2069705203, rs758917402, rs2069707755, rs2069725866, rs2069727641, rs2069743252, rs2069745140, rs2069745354, rs2069790028, rs2069790543, rs2069793099, rs2069795265, rs2069867490, rs776506332, rs2069867622, rs2069867738, rs2069868519, rs2069869918, rs2069870374, rs2070074350, rs2070074822, rs2070075481, rs2070076040, rs2070076088, rs2070076529, rs1555536135, rs2070108811, rs1555536338, rs2070169785, rs2070170042, rs2070171459, rs2070171679, rs2070172706, rs2070273520, rs2070275502, rs2070298589, rs772757623, rs2070327979, rs2070327932, rs2070375859, rs2065661533, rs2065728187, rs2065831369, rs2066861383, rs2066618684, rs2066510244, rs1597747184, rs2069386858, rs2070079311, rs2070102904, rs2070296011, rs2067138719, rs1344104003, rs2070372934, rs2065902916, rs2067039276, rs2066964219, rs2067187668, rs2066580454, rs2067092561, rs1567858306, rs878853897, rs2069717916, rs2070172428, rs1418675250, rs757074803, rs2066961306, rs2069724056	24763291
Schwannomatosis	Schwannomatosis	rs121434496, rs587777180, rs189150283, rs1460026299, rs149850248, rs1555927561, rs148031742	24763291
Steroid resistant nephrotic syndrome	Steroid resistant nephrotic syndrome of childhood	rs74315342, rs74315343, rs74315347, rs74315348, rs202128397, rs879255251, rs775170915, rs749740335, rs530318579, rs778055996, rs775006954, rs1291398331, rs748812981, rs1334894971, rs763782471, rs138047529, rs1196820381	27604308, 21540551

Unknown
Disease term	Disease name	Evidence	References	Source
Nephrotic Syndrome	familial steroid-resistant nephrotic syndrome with sensorineural deafness			GenCC
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Coenzyme Q10 Deficiency	Associate	24140869, 35643375
Kidney Diseases	Associate	30232548
Proteinuria	Associate	30232548, 35643375
Signs and Symptoms	Associate	30594156