COX6A1 (cytochrome c oxidase subunit 6A1)

Gene

• Entrez ID: 1337
• Gene name: Cytochrome c oxidase subunit 6A1
• Gene symbol: COX6A1
• Synonyms (NCBI Gene): CMTRID, COX6A, COX6AL
• Disease Acronyms (UniProt): CMTRID
• Chromosome: 12
• Chromosome location: 12q24.31|12q24.2
• Summary: Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs377504835	G>A,C	Likely-pathogenic	Splice donor variant
rs587777783	TCCAC>-	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT335441	hsa-miR-6757-5p	HITS-CLIP	23313552
MIRT335443	hsa-miR-6871-5p	HITS-CLIP	23313552
MIRT335440	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696673	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT696672	hsa-miR-6731-5p	HITS-CLIP	23313552
MIRT696671	hsa-miR-8085	HITS-CLIP	23313552
MIRT696670	hsa-miR-579-3p	HITS-CLIP	23313552
MIRT696669	hsa-miR-664b-3p	HITS-CLIP	23313552
MIRT335439	hsa-miR-3064-3p	HITS-CLIP	23313552
MIRT335437	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT335436	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT335442	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT574289	hsa-miR-3133	PAR-CLIP	20371350
MIRT574288	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT574287	hsa-miR-3974	PAR-CLIP	20371350
MIRT574286	hsa-miR-6882-5p	PAR-CLIP	20371350
MIRT335431	hsa-miR-5003-3p	PAR-CLIP	20371350
MIRT270468	hsa-miR-300	PAR-CLIP	20371350
MIRT270467	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT335417	hsa-miR-27b-5p	PAR-CLIP	20371350
MIRT335429	hsa-miR-4720-3p	PAR-CLIP	20371350
MIRT405146	hsa-miR-4792	PAR-CLIP	20371350
MIRT335441	hsa-miR-6757-5p	HITS-CLIP	23313552
MIRT335443	hsa-miR-6871-5p	HITS-CLIP	23313552
MIRT335440	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696673	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT696672	hsa-miR-6731-5p	HITS-CLIP	23313552
MIRT696671	hsa-miR-8085	HITS-CLIP	23313552
MIRT696670	hsa-miR-579-3p	HITS-CLIP	23313552
MIRT696669	hsa-miR-664b-3p	HITS-CLIP	23313552
MIRT335439	hsa-miR-3064-3p	HITS-CLIP	23313552
MIRT335437	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT335436	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT335442	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT574289	hsa-miR-3133	PAR-CLIP	20371350
MIRT574288	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT574287	hsa-miR-3974	PAR-CLIP	20371350
MIRT574286	hsa-miR-6882-5p	PAR-CLIP	20371350
MIRT335431	hsa-miR-5003-3p	PAR-CLIP	20371350
MIRT270468	hsa-miR-300	PAR-CLIP	20371350
MIRT270467	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT335417	hsa-miR-27b-5p	PAR-CLIP	20371350
MIRT335429	hsa-miR-4720-3p	PAR-CLIP	20371350
MIRT405146	hsa-miR-4792	PAR-CLIP	20371350
MIRT905415	hsa-miR-140-5p	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905418	hsa-miR-1976	CLIP-seq
MIRT905419	hsa-miR-198	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905421	hsa-miR-3545-5p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905429	hsa-miR-4460	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905431	hsa-miR-4722-3p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq
MIRT905415	hsa-miR-140-5p	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905418	hsa-miR-1976	CLIP-seq
MIRT905419	hsa-miR-198	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905421	hsa-miR-3545-5p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905429	hsa-miR-4460	CLIP-seq
MIRT2204386	hsa-miR-4503	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905431	hsa-miR-4722-3p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905415	hsa-miR-140-5p	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905418	hsa-miR-1976	CLIP-seq
MIRT905419	hsa-miR-198	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905421	hsa-miR-3545-5p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905429	hsa-miR-4460	CLIP-seq
MIRT2204386	hsa-miR-4503	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905431	hsa-miR-4722-3p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq
MIRT905415	hsa-miR-140-5p	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905418	hsa-miR-1976	CLIP-seq
MIRT905419	hsa-miR-198	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905421	hsa-miR-3545-5p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905429	hsa-miR-4460	CLIP-seq
MIRT2204386	hsa-miR-4503	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905431	hsa-miR-4722-3p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MEF2A	Unknown	18222924
NRF1	Unknown	10773445
YY1	Unknown	10773445

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17500595, 32296183, 32814053
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005751	Component	Mitochondrial respiratory chain complex IV	IBA	21873635
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	2549515
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IBA	21873635
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0030234	Function	Enzyme regulator activity	IBA	21873635
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 602072
• HGNC: 2277
• e!Ensembl: ENSG00000111775

Protein

• UniProt ID: P12074
• Protein name: Cytochrome c oxidase subunit 6A1, mitochondrial (Cytochrome c oxidase polypeptide VIa-liver) (Cytochrome c oxidase subunit VIA-liver) (COX VIa-L)
• 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02046	COX6A	21 → 102	Cytochrome c oxidase subunit VIa	Family

• Sequence:

  MAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLK
  SHHGEHERPEFIAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE

• Sequence length: 109

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
Charcot-marie-tooth disease	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, Autosomal recessive intermediate Charcot-Marie-Tooth disease type D	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887	25152455
Peripheral neuropathy	Peripheral Neuropathy	rs28940294, rs137852972, rs104894715, rs121918312, rs137852667, rs2101018240, rs149782619, rs397514490, rs62636502, rs797044802, rs879253752, rs879253869, rs777219451, rs538412810, rs759785462, rs1241595912, rs1553259707, rs757937208, rs144183238, rs1586128169, rs765346218

Unknown
Disease term	Disease name	Evidence	References	Source
Bipolar Disorder	Bipolar Disorder			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Carcinoma	Carcinoma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma Follicular	Associate	23569218
Adenocarcinoma of Lung	Associate	32769881, 40331946
Carcinogenesis	Associate	23569218
Charcot Marie Tooth Disease	Associate	26556829
Leukoplakia Oral	Associate	37454941
Neoplasms	Associate	40331946
Peripheral Nervous System Diseases	Associate	26556829
Spastic Paraplegia Hereditary	Associate	26556829