COX8A (cytochrome c oxidase subunit 8A)

Gene

• Entrez ID: 1351
• Gene name: Cytochrome c oxidase subunit 8A
• Gene symbol: COX8A
• Synonyms (NCBI Gene): COX, COX8, COX8-2, COX8L, MC4DN15, VIII, VIII-L
• Disease Acronyms (UniProt): MC4DN15
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869025575	G>C	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030182	hsa-miR-26b-5p	Microarray	19088304
MIRT042264	hsa-miR-484	CLASH	23622248
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905596	hsa-miR-3144-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905611	hsa-miR-4716-3p	CLIP-seq
MIRT905612	hsa-miR-624	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905596	hsa-miR-3144-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905599	hsa-miR-335	CLIP-seq
MIRT905600	hsa-miR-4276	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905604	hsa-miR-433	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905610	hsa-miR-4697-3p	CLIP-seq
MIRT905611	hsa-miR-4716-3p	CLIP-seq
MIRT905612	hsa-miR-624	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905591	hsa-miR-134	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905598	hsa-miR-3173-3p	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq
MIRT905588	hsa-miR-105	CLIP-seq
MIRT905589	hsa-miR-128	CLIP-seq
MIRT905590	hsa-miR-1294	CLIP-seq
MIRT905592	hsa-miR-2392	CLIP-seq
MIRT905593	hsa-miR-27a	CLIP-seq
MIRT905594	hsa-miR-27b	CLIP-seq
MIRT905595	hsa-miR-3126-5p	CLIP-seq
MIRT905597	hsa-miR-3151	CLIP-seq
MIRT905601	hsa-miR-4283	CLIP-seq
MIRT905602	hsa-miR-4302	CLIP-seq
MIRT905603	hsa-miR-4316	CLIP-seq
MIRT905605	hsa-miR-4419a	CLIP-seq
MIRT905606	hsa-miR-4489	CLIP-seq
MIRT905607	hsa-miR-4492	CLIP-seq
MIRT905608	hsa-miR-4498	CLIP-seq
MIRT905609	hsa-miR-4510	CLIP-seq
MIRT905613	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	2543673
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0045277	Component	Respiratory chain complex IV	IBA	21873635
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 123870
• HGNC: 2294
• e!Ensembl: ENSG00000176340

Protein

• UniProt ID: P10176
• Protein name: Cytochrome c oxidase subunit 8A, mitochondrial (Cytochrome c oxidase polypeptide VIII-liver/heart) (Cytochrome c oxidase subunit 8-2)
• Protein function: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
• PDB: 5Z62, 8D4T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02285	COX8	26 → 68	Cytochrome oxidase c subunit VIII	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:26685157}.
• Sequence:

  MSVLTPLLLRGLTGSARRLPVPRAKIHSLPPEGKLGIMELAVGLTSCFVTFLLPAGWILS
  HLETYRRPE

• Sequence length: 69

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

TP53 Regulates Metabolic Genes
Respiratory electron transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Fanconi syndrome	Adult Fanconi syndrome	rs398124646
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
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
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
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs886039422, rs753355844, rs748810737, rs886039867, rs886041040, rs886041502, rs748394238, rs770185023, rs753353134, rs886041773, rs886041376, rs886041178, rs758109813, rs750396156, rs886042613, rs749526785, rs886042722, rs371777049, rs115352681, rs773539640, rs886043417, rs886043587, rs201855602, rs886044304, rs770748359, rs770284500, rs141563823, rs752953889, rs762991211, rs749199721, rs1057517533, rs536593247, rs373208120, rs376894444, rs1057517844, rs374536346, rs116471343, rs865990202, rs1057517700, rs543698823, rs1057518922, rs1057518949, rs368088025, rs1057519193, rs556788423, rs1057519316, rs1057519427, rs1057519317, rs1057519341, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs1057520213, rs766246531, rs1060499783, rs1060501181, rs987233144, rs1064793000, rs1064793001, rs767689418, rs1064793002, rs1060505042, rs748014296, rs62636260, rs1064793289, rs1064795279, rs200712760, rs1064795047, rs1064793506, rs1064793745, rs137954284, rs762150575, rs559155109, rs769671323, rs61755776, rs1064796020, rs199740930, rs1064794848, rs139842473, rs1064794342, rs1064794573, rs778884136, rs777849213, rs1555558169, rs1064797113, rs1064797133, rs1064797134, rs770011113, rs1064797215, rs4672457, rs1064797304, rs773065850, rs1064797364, rs1064797365, rs1085307446, rs1085307972, rs1085307968, rs62645747, rs753886165, rs1555962831, rs1556313552, rs140451304, rs539192853, rs749702843, rs752762669, rs1553449458, rs776788104, rs1553260517, rs145282040, rs773914330, rs757740068, rs1003869920, rs1553252388, rs762388072, rs762159022, rs1362058696, rs1553257498, rs1553257685, rs1288381992, rs1285853856, rs1388040238, rs1553263639, rs751111524, rs1553273280, rs1553274531, rs1035024403, rs746551311, rs780308389, rs1338169194, rs772808534, rs199683808, rs778234759, rs1553188588, rs1553192726, rs764759172, rs541717028, rs746238212, rs1553513437, rs569826109, rs367658438, rs1178184685, rs1553354861, rs754995805, rs770339774, rs1553681348, rs1553687058, rs1553780837, rs1553781176, rs771054395, rs201644238, rs780697796, rs745413794, rs567961453, rs781003757, rs370898371, rs1360937549, rs1553812554, rs753942596, rs144484128, rs146591309, rs773278338, rs1554338016, rs1554268546, rs1554269053, rs1554194404, rs1346842287, rs1554204963, rs1554152094, rs181169439, rs1554183432, rs1554183440, rs930421180, rs1291867456, rs1554214453, rs760798455, rs764163418, rs765129639, rs1554519533, rs1554519538, rs1554519546, rs1554519554, rs1554519555, rs1554519577, rs1554519635, rs1449723475, rs1554519651, rs769601671, rs1554520068, rs1554671407, rs756678484, rs1477733493, rs1555099048, rs1555050487, rs756632517, rs781670422, rs1555302710, rs766096417, rs377257254, rs773372123, rs756806434, rs1555488069, rs1555488573, rs760373259, rs1352458826, rs1555493707, rs750620302, rs189234741, rs752997229, rs1555801989, rs1555791188, rs1555793207, rs1555794302, rs748531024, rs1555961832, rs1555961849, rs1555961852, rs1555961964, rs1555962965, rs1555964122, rs1555964133, rs771039023, rs1555965653, rs1555965712, rs1555968526, rs1556318627, rs1556318633, rs1555468632, rs1555794509, rs1461319754, rs1555049194, rs1555468920, rs1231250334, rs1555792879, rs1555793828, rs1233480483, rs1161389116, rs1554090012, rs1554125521, rs1554417054, rs1554519822, rs1555961624, rs559371453, rs1555487977, rs1441549097, rs758052634, rs1553121073, rs758593134, rs1554289078, rs1553122926, rs764831063, rs754768875, rs374268850, rs1420628245, rs1553781140, rs1555961677, rs1555961787, rs1369414978, rs1366496013, rs774573692, rs534534437, rs769838859, rs777678022, rs753090404, rs201730567, rs199679165, rs143344549, rs777465132, rs1554163929, rs751176116, rs1553454799, rs564754426, rs1553250072, rs141672841, rs1553354826, rs201823777, rs1419157426, rs1553261478, rs1553253747, rs1309140887, rs776886395, rs1553681433, rs1553687118, rs370758397, rs1278053918, rs1555965107, rs1555474009, rs1423102192, rs1553515435, rs753994107, rs1554269081, rs769512989, rs1239043055, rs1555794205, rs1553272035, rs1555216730, rs1555550617, rs1553354522, rs748847284, rs1433546528, rs1555968248, rs1555968524, rs1556318642, rs1553263572, rs199636364, rs765476745, rs768161313, rs1553252499, rs763463859, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs1212608410, rs200871041, rs1553248216, rs757676723, rs747160949, rs764917754, rs1295968274, rs1553261898, rs1553250416, rs764182950, rs753505333, rs747063294, rs1553249294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs111033382, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs199782530, rs370327669, rs944675223, rs769001387, rs199982344, rs1553313308, rs1553261479, rs988693758, rs1553313793, rs760302201, rs1553271001, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1553273421, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553270954, rs1553259179, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs768813865, rs748961218, rs771583281, rs1188025733, rs868562952, rs762384558, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs1187839124, rs767414973, rs376155416, rs1326370032, rs1427770112, rs528919874, rs764229134, rs750840208, rs752736741, rs1165454778, rs1554220416, rs751629543, rs1554171033, rs763028732, rs1168101857, rs747240928, rs1207247951, rs1555454566, rs199830550, rs192907397, rs1429137932, rs1558049084, rs1558151555, rs748983904, rs1057518826, rs1558366840, rs1212998897, rs746141070, rs1560121685, rs1560122302, rs1560134806, rs868349465, rs1562079314, rs1562109990, rs1562140604, rs1562154478, rs749410700, rs1246397238, rs1563329888, rs1563330595, rs1563983151, rs1566561006, rs1566888340, rs1566585766, rs1566945534, rs777989874, rs771551785, rs1568600184, rs1569235677, rs1569237206, rs1569238659, rs1569258901, rs767797828, rs1262416703, rs776591659, rs1557447255, rs747393487, rs140039128, rs1160669210, rs1569257917, rs745422941, rs988133284, rs766053952, rs748369458, rs1558251742, rs1559100465, rs281865520, rs776526721, rs777103184, rs1318739667, rs1471994744, rs1562481438, rs1562263385, rs778627080, rs758660532, rs41314534, rs1301139848, rs777629750, rs970990957, rs1466666397, rs779334655, rs1558146243, rs1569236971, rs1569237077, rs775957498, rs1566560531, rs1558112968, rs552517556, rs777215595, rs373203896, rs752930400, rs1569235999, rs779169631, rs1560046837, rs776727320, rs767994904, rs772057239, rs186643840, rs779983752, rs1562220891, rs1428612396, rs200862689, rs530749007, rs200248198, rs150412614, rs1360258103, rs1573592033, rs1578278438, rs1197105310, rs1582928662, rs777889289, rs1602347992, rs781705903, rs1571572235, rs1571945537, rs201238640, rs1571953381, rs1453306308, rs201863550, rs1571941465, rs1571941589, rs753908845, rs1572060087, rs771000800, rs1570382663, rs772421550, rs1572826522, rs959069360, rs1578278354, rs768210562, rs1578281136, rs766357803, rs750147338, rs1577296602, rs1581180469, rs1581190641, rs1265680220, rs976670244, rs1581312596, rs1581697849, rs753314164, rs61755811, rs748838955, rs1582221424, rs74419361, rs777482895, rs1582376609, rs1468020897, rs1585557752, rs1585563087, rs1250214380, rs1585563204, rs1585563965, rs1585564175, rs879399888, rs1585567204, rs368489658, rs1594866237, rs759339012, rs1595956455, rs1595956595, rs1365926616, rs775887058, rs1596974169, rs1596996962, rs1600341902, rs1600341931, rs1600355373, rs1600355502, rs1600360338, rs1600360654, rs1601891936, rs1601891967, rs1601892395, rs1601926125, rs1601943227, rs1601943268, rs1601943462, rs1602347792, rs1602349705, rs1603288875, rs754970095, rs1573592124, rs1573607809, rs1578097528, rs781377291, rs781616522, rs1581211727, rs1432643009, rs1167742176, rs1562998089, rs1422250479, rs762276925, rs1596976316, rs1600340117, rs1057520752, rs1601890980, rs62638627, rs1602653742, rs1571523755, rs1571525390, rs140260219, rs1571623023, rs1571170561, rs754899711, rs1572934951, rs1578491064, rs1578860254, rs1302809734, rs1581744084, rs1582764878, rs1584179629, rs1585561400, rs1591277785, rs762326108, rs777420525, rs1238109100, rs62638648, rs1576623563, rs1589420011, rs1597331616, rs201205811, rs763324776, rs770984400, rs760858249, rs748863844, rs770329105, rs772748858, rs1187991259, rs1281095503, rs1231668679, rs767882032, rs1225304963, rs371032798, rs1345460401, rs200387832, rs1293202153, rs1574426870, rs776204925, rs758899480, rs1582079626, rs776564041, rs1602190224, rs751413984, rs769723975, rs1584799745, rs776206391, rs1300041533, rs747512450, rs1571158279, rs561075447, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571783742, rs759433119, rs1415484067, rs1415157305, rs752058510, rs1573613491, rs774577413, rs778383770, rs746291728, rs1003615909, rs1578278088, rs1578278417, rs371288618, rs1578281565, rs1578281706, rs373680665, rs1355802816, rs745704627, rs374017889, rs1037963003, rs1577301589, rs1577311264, rs1581164958, rs375659222, rs769824975, rs1582140331, rs902462590, rs983691310, rs1562079278, rs1305702728, rs928803207, rs1583260302, rs1583277585, rs1391928253, rs1583442540, rs1582176424, rs760283610, rs770659908, rs1585564369, rs1246790145, rs1589337745, rs888090139, rs1596997875, rs1597223214, rs1600324262, rs1600324442, rs1439576531, rs1600335289, rs1600337158, rs764232082, rs1600350656, rs1601917999, rs1601922202, rs1601923813, rs1601924184, rs1601947074, rs1601961064, rs1601974881, rs1601978817, rs1601978823, rs1601978925, rs1601982532, rs1602347637, rs1602355025, rs1600334904, rs1572027164, rs111033408, rs1571703801, rs1572827477, rs755429480, rs1600335148, rs1254494198, rs1601922877, rs1601924111, rs1589590737, rs1573627154, rs1573638426, rs778005207, rs1424131846, rs1582929649, rs1572263404, rs1582139965, rs1571848659, rs1571848744, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1571681377, rs1571715796, rs768158580, rs368687374, rs1571805235, rs1557600322, rs1571253050, rs779743222, rs1574489337, rs1285501658, rs369937337, rs774215025, rs1572829514, rs1572875669, rs1316281505, rs1578279746, rs1578280574, rs1578280588, rs377600857, rs1575415957, rs1293620319, rs1578059695, rs759079269, rs1560621807, rs1577288305, rs1581164936, rs1581166539, rs1581217626, rs1581727126, rs1581738478, rs763272975, rs375978676, rs1582139184, rs1582139308, rs1168129071, rs1582146096, rs1582930081, rs1582932583, rs749103801, rs1582376398, rs1584728115, rs1585559122, rs1585563283, rs1585563328, rs1587620892, rs794726954, rs1589313739, rs1594214013, rs1371805993, rs1594224781, rs1594280914, rs1594246708, rs1594867516, rs1594867597, rs776270511, rs1595957521, rs1028371920, rs1597445687, rs1176869304, rs1597340989, rs886276412, rs1479239564, rs1600342032, rs1184467860, rs1555961440, rs1346308311, rs1601920423, rs1601920599, rs1601923388, rs1601923578, rs907856232, rs1601940608, rs281865302, rs1601951704, rs1601972255, rs1601972449, rs1601978991, rs1602342597, rs1602347786, rs1602347851, rs1276597208, rs1577301137, rs1561671507, rs1595009158, rs1597951232, rs1600342050, rs1602071514, rs1601931052, rs1602342663, rs1658062720, rs1653548589, rs1659645978, rs1659651471, rs1660519681, rs1664301074, rs771257822, rs1656419435, rs1656646424, rs754834155, rs948087886, rs755099565, rs1657965422, rs1657992030, rs1657996197, rs1386612395, rs1660298900, rs764113446, rs1259758261, rs1664490756, rs1667316070, rs1421761057, rs2032462132, rs758733024, rs2036149054, rs2039692173, rs1659900155, rs1659902823, rs1660937747, rs1661098509, rs1676223605, rs1676864299, rs748204331, rs1671239184, rs1706625164, rs1706833794, rs1707008452, rs2058802102, rs1717541693, rs1738719686, rs867483436, rs1734061767, rs1736425011, rs1736426982, rs1737229618, rs1737442897, rs1761073125, rs1752838269, rs1754418004, rs1773160727, rs986748364, rs1761908297, rs1488052513, rs1769471082, rs1455826633, rs1766367970, rs1300490966, rs1768038999, rs368159852, rs1766217655, rs1286660951, rs1238921380, rs1784160131, rs886210482, rs1806033536, rs1806033844, rs1806128576, rs1205613982, rs1830219226, rs777019428, rs1555210929, rs1836974640, rs1856758582, rs2036808766, rs1163040913, rs745934202, rs1257334132, rs2054205040, rs2051588436, rs2074970792, rs2073701678, rs2073702243, rs2073704298, rs2073708638, rs2073818085, rs1411470197, rs2073962058, rs2073962186, rs2073964950, rs1314226094, rs2073970897, rs2073971805, rs2067117666, rs2067124487, rs2067127275, rs2067159265, rs2067175855, rs2067180233, rs1854473658, rs2067185063, rs2067191541, rs2067192032, rs2067193671, rs2067194747, rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852

Unknown
Disease term	Disease name	Evidence	References	Source
Cytochrome-c oxidase deficiency	Cytochrome-c Oxidase Deficiency		26685157	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Mitochondrial Complex Deficiency	mitochondrial complex 4 deficiency, nuclear type 15			GenCC
Cytochrome-C Oxidase Deficiency	cytochrome-c oxidase deficiency disease			GenCC
Leigh Syndrome	Leigh syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	22243966
Alzheimer Disease	Associate	19390242, 21841246, 28448944, 29016679
Alzheimer Disease	Inhibit	8577761
Anemia Hemolytic Autoimmune	Associate	9389715
Arthritis	Associate	19390242
Arthritis Rheumatoid	Associate	11122255
Asthma	Associate	19390242, 30961940
Astrocytoma	Associate	15470710
Basal Ganglia Diseases	Associate	31022467
beta Thalassemia	Associate	15327529
Blood Coagulation Disorders	Associate	36859289
Breast Neoplasms	Inhibit	39742384
Carcinogenesis	Associate	23360921
Carcinoma Hepatocellular	Associate	33089765
Cardiomyopathy Hypertrophic	Associate	27578326
Cerebral Infarction	Associate	31735164
Cholangiocarcinoma	Associate	35841118
Colitis Ulcerative	Associate	23852949
Colorectal Neoplasms	Associate	32246818
Congenital Abnormalities	Associate	22243966
Continuous Muscle Fiber Activity Hereditary	Associate	34681740
COVID 19	Associate	36075471
Cytochrome c Oxidase Deficiency	Associate	25418474, 9634511
Diabetes Gestational	Associate	37658630
Diabetes Mellitus	Associate	37512131, 6171128
Diabetes Mellitus Type 2	Associate	37512131
Disease Progression	Associate	30961940
Drug Related Side Effects and Adverse Reactions	Inhibit	22962324
Familial Multiple Coagulation Factor Deficiency I	Inhibit	10090934
Familial Multiple Coagulation Factor Deficiency I	Associate	10090935
Fuchs' Endothelial Dystrophy	Associate	20144242
Glioblastoma	Associate	11302336, 24352766
Glioma	Associate	21029244
Heart Failure	Associate	9811342
Hemophilia A	Associate	2752145, 35123343, 3922454
Hemophilia A	Inhibit	36859289
Hemophilia B	Associate	2752145, 3018248
Hemorrhage	Associate	23468366, 35123343
Hyperalgesia	Associate	17204142
Hypertensive Retinopathy	Associate	31022467
IgA Vasculitis	Associate	36859289
Immunologic Deficiency Syndromes	Inhibit	19538466
Immunologic Deficiency Syndromes	Associate	20484224
Inflammation	Associate	11122255, 19390242, 21505183, 30961940
Insulin Resistance	Associate	37512131
Leigh Disease	Associate	12812953, 15269007, 8781533
Leigh syndrome French Canadian type	Associate	10205264, 30995105
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	Associate	31022467
Lung Diseases Interstitial	Associate	30940853
Lymphoma Large B Cell Diffuse	Associate	32192453
Macrophage Activation Syndrome	Stimulate	31894359
Malignant hyperthermia susceptibility type 1	Inhibit	21841246
MELAS Syndrome	Associate	11850598, 24674659, 37221696
MERRF Syndrome	Associate	10477264, 11850598, 9037024
Mitochondrial Diseases	Associate	10205264, 11850598, 28521807, 37468577, 8577761
Mitochondrial Diseases	Inhibit	22378285
Mitochondrial Encephalomyopathies	Associate	10205264, 19735676
Mitochondrial Myopathies	Associate	31851916, 37468577
Mouth Neoplasms	Associate	26919242
Muscular Diseases	Associate	25873012, 31022467, 32305257
Muscular Disorders Atrophic	Associate	27578326
Myositis Inclusion Body	Associate	33354847, 8577761
Neoplasm Metastasis	Associate	11728453
Neoplasms	Associate	15470710, 16671096, 19390242, 22134189, 22894905, 26739353, 31894359
Neoplasms	Stimulate	23852949
Ophthalmoplegia	Associate	16685652
Ophthalmoplegia Chronic Progressive External	Associate	10869362, 32305257, 34681740
Optic Atrophy Autosomal Dominant	Associate	20484224
Osteoarthropathy Primary Hypertrophic	Associate	39607761
Pancreatic Neoplasms	Associate	16671096, 20530583, 27133426, 27368132
Pulmonary Disease Chronic Obstructive	Associate	17483440
Pulmonary Fibrosis	Associate	26038391
Pyruvate Carboxylase Deficiency Disease	Associate	23360921
Renal Insufficiency	Associate	24674659
Respiratory Paralysis	Associate	22762368
Retinal Dysplasia	Associate	23852949
Seizures	Associate	31022467
Sickle Cell Trait	Associate	22700803
Small Cell Lung Carcinoma	Associate	34006632
Stroke	Associate	23468366
Thrombocythemia Essential	Associate	19105233
Thrombosis	Associate	11722428, 19105233
Venous Thrombosis	Associate	22533697
Visceral myopathy familial external ophthalmoplegia	Associate	36232299