MSTO1 (misato mitochondrial distribution and morphology regulator 1)

Gene

• Entrez ID: 55154
• Gene name: Misato mitochondrial distribution and morphology regulator 1
• Gene symbol: MSTO1
• Synonyms (NCBI Gene): LST005, MMYAT, MST
• Disease Acronyms (UniProt): MMYAT
• Chromosome: 1
• Chromosome location: 1q22

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047477	hsa-miR-10b-5p	CLASH	23622248
MIRT042347	hsa-miR-484	CLASH	23622248
MIRT039736	hsa-miR-615-3p	CLASH	23622248
MIRT1161954	hsa-miR-106a	CLIP-seq
MIRT1161955	hsa-miR-106b	CLIP-seq
MIRT1161956	hsa-miR-1225-3p	CLIP-seq
MIRT1161957	hsa-miR-1233	CLIP-seq
MIRT1161958	hsa-miR-1255a	CLIP-seq
MIRT1161959	hsa-miR-1255b	CLIP-seq
MIRT1161960	hsa-miR-128	CLIP-seq
MIRT1161961	hsa-miR-1287	CLIP-seq
MIRT1161962	hsa-miR-1471	CLIP-seq
MIRT1161963	hsa-miR-17	CLIP-seq
MIRT1161964	hsa-miR-1910	CLIP-seq
MIRT1161965	hsa-miR-20a	CLIP-seq
MIRT1161966	hsa-miR-20b	CLIP-seq
MIRT1161967	hsa-miR-2114	CLIP-seq
MIRT1161968	hsa-miR-27a	CLIP-seq
MIRT1161969	hsa-miR-27b	CLIP-seq
MIRT1161970	hsa-miR-28-5p	CLIP-seq
MIRT1161971	hsa-miR-3139	CLIP-seq
MIRT1161972	hsa-miR-326	CLIP-seq
MIRT1161973	hsa-miR-330-5p	CLIP-seq
MIRT1161974	hsa-miR-34b	CLIP-seq
MIRT1161975	hsa-miR-3613-5p	CLIP-seq
MIRT1161976	hsa-miR-3664-5p	CLIP-seq
MIRT1161977	hsa-miR-3670	CLIP-seq
MIRT1161978	hsa-miR-3672	CLIP-seq
MIRT1161979	hsa-miR-3683	CLIP-seq
MIRT1161980	hsa-miR-4263	CLIP-seq
MIRT1161981	hsa-miR-4268	CLIP-seq
MIRT1161982	hsa-miR-448	CLIP-seq
MIRT1161983	hsa-miR-4487	CLIP-seq
MIRT1161984	hsa-miR-4495	CLIP-seq
MIRT1161985	hsa-miR-4522	CLIP-seq
MIRT1161986	hsa-miR-4655-5p	CLIP-seq
MIRT1161987	hsa-miR-4703-3p	CLIP-seq
MIRT1161988	hsa-miR-4714-5p	CLIP-seq
MIRT1161989	hsa-miR-4781-3p	CLIP-seq
MIRT1161990	hsa-miR-4799-5p	CLIP-seq
MIRT1161991	hsa-miR-519a	CLIP-seq
MIRT1161992	hsa-miR-519b-3p	CLIP-seq
MIRT1161993	hsa-miR-519c-3p	CLIP-seq
MIRT1161994	hsa-miR-519d	CLIP-seq
MIRT1161995	hsa-miR-548t	CLIP-seq
MIRT1161996	hsa-miR-554	CLIP-seq
MIRT1161997	hsa-miR-576-5p	CLIP-seq
MIRT1161998	hsa-miR-601	CLIP-seq
MIRT1161999	hsa-miR-708	CLIP-seq
MIRT1162000	hsa-miR-93	CLIP-seq
MIRT2046431	hsa-miR-1292	CLIP-seq
MIRT2046432	hsa-miR-129-5p	CLIP-seq
MIRT2046433	hsa-miR-133a	CLIP-seq
MIRT2046434	hsa-miR-133b	CLIP-seq
MIRT2046435	hsa-miR-150	CLIP-seq
MIRT2046436	hsa-miR-183	CLIP-seq
MIRT2046437	hsa-miR-188-3p	CLIP-seq
MIRT2046438	hsa-miR-4471	CLIP-seq
MIRT2046439	hsa-miR-4502	CLIP-seq
MIRT2046440	hsa-miR-4527	CLIP-seq
MIRT2046441	hsa-miR-4646-5p	CLIP-seq
MIRT2046442	hsa-miR-4713-5p	CLIP-seq
MIRT2046443	hsa-miR-532-3p	CLIP-seq
MIRT2275529	hsa-miR-4267	CLIP-seq
MIRT2275530	hsa-miR-518a-5p	CLIP-seq
MIRT2275531	hsa-miR-527	CLIP-seq
MIRT1161954	hsa-miR-106a	CLIP-seq
MIRT1161955	hsa-miR-106b	CLIP-seq
MIRT1161960	hsa-miR-128	CLIP-seq
MIRT1161962	hsa-miR-1471	CLIP-seq
MIRT1161963	hsa-miR-17	CLIP-seq
MIRT1161965	hsa-miR-20a	CLIP-seq
MIRT1161966	hsa-miR-20b	CLIP-seq
MIRT1161967	hsa-miR-2114	CLIP-seq
MIRT1161968	hsa-miR-27a	CLIP-seq
MIRT1161969	hsa-miR-27b	CLIP-seq
MIRT2454527	hsa-miR-3192	CLIP-seq
MIRT1161972	hsa-miR-326	CLIP-seq
MIRT1161973	hsa-miR-330-5p	CLIP-seq
MIRT1161974	hsa-miR-34b	CLIP-seq
MIRT1161978	hsa-miR-3672	CLIP-seq
MIRT1161980	hsa-miR-4263	CLIP-seq
MIRT2454528	hsa-miR-4273	CLIP-seq
MIRT2454529	hsa-miR-4314	CLIP-seq
MIRT1161982	hsa-miR-448	CLIP-seq
MIRT1161984	hsa-miR-4495	CLIP-seq
MIRT1161985	hsa-miR-4522	CLIP-seq
MIRT2046441	hsa-miR-4646-5p	CLIP-seq
MIRT1161986	hsa-miR-4655-5p	CLIP-seq
MIRT2454530	hsa-miR-4672	CLIP-seq
MIRT2454531	hsa-miR-4677-5p	CLIP-seq
MIRT2454532	hsa-miR-4700-3p	CLIP-seq
MIRT1161989	hsa-miR-4781-3p	CLIP-seq
MIRT1161990	hsa-miR-4799-5p	CLIP-seq
MIRT1161991	hsa-miR-519a	CLIP-seq
MIRT1161992	hsa-miR-519b-3p	CLIP-seq
MIRT1161993	hsa-miR-519c-3p	CLIP-seq
MIRT1161994	hsa-miR-519d	CLIP-seq
MIRT1161995	hsa-miR-548t	CLIP-seq
MIRT1161996	hsa-miR-554	CLIP-seq
MIRT1161997	hsa-miR-576-5p	CLIP-seq
MIRT1161998	hsa-miR-601	CLIP-seq
MIRT1162000	hsa-miR-93	CLIP-seq
MIRT2454527	hsa-miR-3192	CLIP-seq
MIRT1161972	hsa-miR-326	CLIP-seq
MIRT1161973	hsa-miR-330-5p	CLIP-seq
MIRT1161978	hsa-miR-3672	CLIP-seq
MIRT2454529	hsa-miR-4314	CLIP-seq
MIRT1161985	hsa-miR-4522	CLIP-seq
MIRT2046441	hsa-miR-4646-5p	CLIP-seq
MIRT1161986	hsa-miR-4655-5p	CLIP-seq
MIRT2454530	hsa-miR-4672	CLIP-seq
MIRT2454532	hsa-miR-4700-3p	CLIP-seq
MIRT1161954	hsa-miR-106a	CLIP-seq
MIRT1161955	hsa-miR-106b	CLIP-seq
MIRT1161956	hsa-miR-1225-3p	CLIP-seq
MIRT1161957	hsa-miR-1233	CLIP-seq
MIRT1161960	hsa-miR-128	CLIP-seq
MIRT1161962	hsa-miR-1471	CLIP-seq
MIRT1161963	hsa-miR-17	CLIP-seq
MIRT2574572	hsa-miR-185	CLIP-seq
MIRT1161964	hsa-miR-1910	CLIP-seq
MIRT2574573	hsa-miR-1915	CLIP-seq
MIRT1161965	hsa-miR-20a	CLIP-seq
MIRT1161966	hsa-miR-20b	CLIP-seq
MIRT1161967	hsa-miR-2114	CLIP-seq
MIRT2574574	hsa-miR-2278	CLIP-seq
MIRT2574575	hsa-miR-2392	CLIP-seq
MIRT1161968	hsa-miR-27a	CLIP-seq
MIRT1161969	hsa-miR-27b	CLIP-seq
MIRT2574576	hsa-miR-3135b	CLIP-seq
MIRT2454527	hsa-miR-3192	CLIP-seq
MIRT2574577	hsa-miR-3194-3p	CLIP-seq
MIRT1161972	hsa-miR-326	CLIP-seq
MIRT1161973	hsa-miR-330-5p	CLIP-seq
MIRT1161974	hsa-miR-34b	CLIP-seq
MIRT2574578	hsa-miR-3605-5p	CLIP-seq
MIRT1161975	hsa-miR-3613-5p	CLIP-seq
MIRT2574579	hsa-miR-3652	CLIP-seq
MIRT1161976	hsa-miR-3664-5p	CLIP-seq
MIRT1161978	hsa-miR-3672	CLIP-seq
MIRT1161979	hsa-miR-3683	CLIP-seq
MIRT1161980	hsa-miR-4263	CLIP-seq
MIRT2454528	hsa-miR-4273	CLIP-seq
MIRT2574580	hsa-miR-4283	CLIP-seq
MIRT2574581	hsa-miR-4306	CLIP-seq
MIRT2454529	hsa-miR-4314	CLIP-seq
MIRT2574582	hsa-miR-4430	CLIP-seq
MIRT2574583	hsa-miR-4436a	CLIP-seq
MIRT2574584	hsa-miR-4459	CLIP-seq
MIRT1161982	hsa-miR-448	CLIP-seq
MIRT1161984	hsa-miR-4495	CLIP-seq
MIRT1161985	hsa-miR-4522	CLIP-seq
MIRT2574585	hsa-miR-4534	CLIP-seq
MIRT2574586	hsa-miR-4644	CLIP-seq
MIRT2046441	hsa-miR-4646-5p	CLIP-seq
MIRT1161986	hsa-miR-4655-5p	CLIP-seq
MIRT2454530	hsa-miR-4672	CLIP-seq
MIRT2454531	hsa-miR-4677-5p	CLIP-seq
MIRT2574587	hsa-miR-4695-5p	CLIP-seq
MIRT2454532	hsa-miR-4700-3p	CLIP-seq
MIRT1161987	hsa-miR-4703-3p	CLIP-seq
MIRT1161988	hsa-miR-4714-5p	CLIP-seq
MIRT2574588	hsa-miR-4722-5p	CLIP-seq
MIRT2574589	hsa-miR-4727-5p	CLIP-seq
MIRT2574590	hsa-miR-4769-3p	CLIP-seq
MIRT1161989	hsa-miR-4781-3p	CLIP-seq
MIRT1161990	hsa-miR-4799-5p	CLIP-seq
MIRT2574591	hsa-miR-516b	CLIP-seq
MIRT1161991	hsa-miR-519a	CLIP-seq
MIRT1161992	hsa-miR-519b-3p	CLIP-seq
MIRT1161993	hsa-miR-519c-3p	CLIP-seq
MIRT1161994	hsa-miR-519d	CLIP-seq
MIRT1161995	hsa-miR-548t	CLIP-seq
MIRT1161996	hsa-miR-554	CLIP-seq
MIRT1161997	hsa-miR-576-5p	CLIP-seq
MIRT1161998	hsa-miR-601	CLIP-seq
MIRT2574592	hsa-miR-760	CLIP-seq
MIRT2574593	hsa-miR-765	CLIP-seq
MIRT1162000	hsa-miR-93	CLIP-seq
MIRT1161954	hsa-miR-106a	CLIP-seq
MIRT1161955	hsa-miR-106b	CLIP-seq
MIRT1161956	hsa-miR-1225-3p	CLIP-seq
MIRT1161957	hsa-miR-1233	CLIP-seq
MIRT1161960	hsa-miR-128	CLIP-seq
MIRT1161963	hsa-miR-17	CLIP-seq
MIRT2574572	hsa-miR-185	CLIP-seq
MIRT1161964	hsa-miR-1910	CLIP-seq
MIRT1161965	hsa-miR-20a	CLIP-seq
MIRT1161966	hsa-miR-20b	CLIP-seq
MIRT2574574	hsa-miR-2278	CLIP-seq
MIRT2574575	hsa-miR-2392	CLIP-seq
MIRT1161968	hsa-miR-27a	CLIP-seq
MIRT1161969	hsa-miR-27b	CLIP-seq
MIRT2574576	hsa-miR-3135b	CLIP-seq
MIRT2454527	hsa-miR-3192	CLIP-seq
MIRT1161972	hsa-miR-326	CLIP-seq
MIRT1161973	hsa-miR-330-5p	CLIP-seq
MIRT1161974	hsa-miR-34b	CLIP-seq
MIRT2574578	hsa-miR-3605-5p	CLIP-seq
MIRT1161975	hsa-miR-3613-5p	CLIP-seq
MIRT2574579	hsa-miR-3652	CLIP-seq
MIRT1161976	hsa-miR-3664-5p	CLIP-seq
MIRT1161978	hsa-miR-3672	CLIP-seq
MIRT1161980	hsa-miR-4263	CLIP-seq
MIRT2454528	hsa-miR-4273	CLIP-seq
MIRT2574581	hsa-miR-4306	CLIP-seq
MIRT2454529	hsa-miR-4314	CLIP-seq
MIRT2574582	hsa-miR-4430	CLIP-seq
MIRT2574583	hsa-miR-4436a	CLIP-seq
MIRT2574584	hsa-miR-4459	CLIP-seq
MIRT1161982	hsa-miR-448	CLIP-seq
MIRT1161984	hsa-miR-4495	CLIP-seq
MIRT1161985	hsa-miR-4522	CLIP-seq
MIRT2574585	hsa-miR-4534	CLIP-seq
MIRT2574586	hsa-miR-4644	CLIP-seq
MIRT2046441	hsa-miR-4646-5p	CLIP-seq
MIRT1161986	hsa-miR-4655-5p	CLIP-seq
MIRT2454530	hsa-miR-4672	CLIP-seq
MIRT2454531	hsa-miR-4677-5p	CLIP-seq
MIRT2574587	hsa-miR-4695-5p	CLIP-seq
MIRT2454532	hsa-miR-4700-3p	CLIP-seq
MIRT1161987	hsa-miR-4703-3p	CLIP-seq
MIRT1161988	hsa-miR-4714-5p	CLIP-seq
MIRT2574588	hsa-miR-4722-5p	CLIP-seq
MIRT1161989	hsa-miR-4781-3p	CLIP-seq
MIRT1161990	hsa-miR-4799-5p	CLIP-seq
MIRT2574591	hsa-miR-516b	CLIP-seq
MIRT1161991	hsa-miR-519a	CLIP-seq
MIRT1161992	hsa-miR-519b-3p	CLIP-seq
MIRT1161993	hsa-miR-519c-3p	CLIP-seq
MIRT1161994	hsa-miR-519d	CLIP-seq
MIRT1161995	hsa-miR-548t	CLIP-seq
MIRT1161996	hsa-miR-554	CLIP-seq
MIRT1161997	hsa-miR-576-5p	CLIP-seq
MIRT1161998	hsa-miR-601	CLIP-seq
MIRT2574593	hsa-miR-765	CLIP-seq
MIRT1162000	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA
GO:0005741	Component	Mitochondrial outer membrane	IDA	17349998
GO:0005829	Component	Cytosol	IDA
GO:0007005	Process	Mitochondrion organization	IMP	17349998
GO:0048311	Process	Mitochondrion distribution	IBA	21873635
GO:0048311	Process	Mitochondrion distribution	IMP	17349998

Other IDs

• MIM: 617619
• HGNC: 29678
• e!Ensembl: ENSG00000125459

Protein

• UniProt ID: Q9BUK6
• Protein name: Protein misato homolog 1
• Protein function: Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28544275, PubMed:28554942). Required for mitochondrial fusion and mitochondrial network formation (PubMed:28544275, PubMed:28554942). {ECO:0000269|P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10644	Misat_Tub_SegII	6 → 120	Misato Segment II tubulin-like domain	Domain
  PF14881	Tubulin_3	153 → 346	Tubulin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Present in all cell lines tested (at protein level). Widely expressed. {ECO:0000269|PubMed:17349998}.
• Sequence:

  MAGGAREVLTLQLGHFAGFVGAHWWNQQDAALGRATDSKEPPGELCPDVLYRTGRTLHGQ
  ETYTPRLILMDLKGSLSSLKEEGGLYRDKQLDAAIAWQGKLTTHKEELYPKNPYLQDFLS
  AEGVLSSDGVWRVKSIPNGKGSSPLPTATTPKPLIPTEASIRVWSDFLRVHLHPRSICMI
  QKYNHDGEAGRLEAFGQGESVLKEPKYQEELEDRLHFYVEECDYLQGFQILCDLHDGFSG
  VGAKAAELLQDEYSGRGIITWGLLPGPYHRGEAQRNIYRLLNTAFGLVHLTAHSSLVCPL
  SLGGSLGLRPEPPVSFPYLHYDATLPFHCSAILATALDTVTVPYRLCSSPVSMVHLADML
  SFCGKKVVTAGAIIPFPLAPGQSLPDSLMQFGGATPWTPLSACGEPSGTRCFAQSVVLRG
  IDRACHTSQLTPGTPPPSALHACTTGEEILAQYLQQQQPGVMSSSHLLLTPCRVAPPYPH
  LFSSCSPPGMVLDGSPKGAAVESIPVFGALCSSSSLHQTLEALARDLTKLDLRRWASFMD
  AGVEHDDVAELLQELQSLAQCYQGGDSLVD

• Sequence length: 570

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Mental retardation	Mild Mental Retardation	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
Mitochondrial myopathy	Mitochondrial Myopathies, MYOPATHY, MITOCHONDRIAL, AND ATAXIA	rs121434454	28544275, 28554942, 29339779
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	rs749922789, rs1553295536, rs771965165, rs1248439783, rs1208636573, rs563943670
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, 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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, 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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, 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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
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Mental depression	Depressive disorder			ClinVar
Mitochondrial Diseases	mitochondrial disease			GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	37849306
Anhedonia	Associate	28554942
Ataxia	Associate	28544275, 28554942, 31604776
Breast Neoplasms	Associate	40312366
Cerebellar Ataxia	Associate	28544275, 31463572
Cerebellar Diseases	Associate	31463572
Deglutition Disorders	Associate	31604776
Developmental Disabilities	Associate	31604776
Distal myopathy Nonaka type	Associate	31604776
Fatigue	Associate	23047795
Funnel Chest	Associate	31604776
Genetic Diseases Inborn	Associate	31604776
Hereditary Myopathy with Early Respiratory Failure	Associate	31463572
Lung Diseases	Associate	31604776
Mitochondrial Diseases	Associate	28544275, 28554942, 31463572
Mitochondrial Myopathies	Associate	31604776
Muscle Hypotonia	Associate	31604776
Muscle Weakness	Associate	31604776
Muscular Diseases	Associate	28544275, 28554942, 31463572, 31604776
Muscular Dystrophies	Associate	31463572
Nervous System Diseases	Associate	28554942
Optic Atrophies Hereditary	Associate	37431815
Optic Atrophy	Associate	37431816
Prostatic Neoplasms	Associate	23047795
Retinitis Pigmentosa	Associate	31463572
Scoliosis	Associate	31604776
Urologic Diseases	Associate	31463572
Visceral myopathy familial external ophthalmoplegia	Associate	31463572