PMPCB (peptidase, mitochondrial processing subunit beta)

Gene

• Entrez ID: 9512
• Gene name: Peptidase, mitochondrial processing subunit beta
• Gene symbol: PMPCB
• Synonyms: Beta-MPP, MAS1, MPP11, MPPB, MPPP52, P-52
• Chromosome: 7
• Chromosome location: 7q22.1
• Summary: This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochon

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145596167	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs146343535	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs200188353	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1436866272	T>C,G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT439943	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439943	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT1244623	hsa-miR-1251	CLIP-seq
MIRT1244624	hsa-miR-1273g	CLIP-seq
MIRT1244625	hsa-miR-1298	CLIP-seq
MIRT1244626	hsa-miR-153	CLIP-seq
MIRT1244627	hsa-miR-199a-3p	CLIP-seq
MIRT1244628	hsa-miR-199b-3p	CLIP-seq
MIRT1244629	hsa-miR-205	CLIP-seq
MIRT1244630	hsa-miR-217	CLIP-seq
MIRT1244631	hsa-miR-219-2-3p	CLIP-seq
MIRT1244632	hsa-miR-2964a-3p	CLIP-seq
MIRT1244633	hsa-miR-299-3p	CLIP-seq
MIRT1244634	hsa-miR-300	CLIP-seq
MIRT1244635	hsa-miR-3065-5p	CLIP-seq
MIRT1244636	hsa-miR-3129-3p	CLIP-seq
MIRT1244637	hsa-miR-3129-5p	CLIP-seq
MIRT1244638	hsa-miR-323b-3p	CLIP-seq
MIRT1244639	hsa-miR-323b-5p	CLIP-seq
MIRT1244640	hsa-miR-340	CLIP-seq
MIRT1244641	hsa-miR-34a	CLIP-seq
MIRT1244642	hsa-miR-34c-5p	CLIP-seq
MIRT1244643	hsa-miR-3660	CLIP-seq
MIRT1244644	hsa-miR-381	CLIP-seq
MIRT1244645	hsa-miR-3927	CLIP-seq
MIRT1244646	hsa-miR-421	CLIP-seq
MIRT1244647	hsa-miR-4256	CLIP-seq
MIRT1244648	hsa-miR-4272	CLIP-seq
MIRT1244649	hsa-miR-4282	CLIP-seq
MIRT1244650	hsa-miR-4464	CLIP-seq
MIRT1244651	hsa-miR-4473	CLIP-seq
MIRT1244652	hsa-miR-4491	CLIP-seq
MIRT1244653	hsa-miR-449a	CLIP-seq
MIRT1244654	hsa-miR-449b	CLIP-seq
MIRT1244655	hsa-miR-4526	CLIP-seq
MIRT1244656	hsa-miR-4657	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT1244658	hsa-miR-4680-5p	CLIP-seq
MIRT1244659	hsa-miR-4684-5p	CLIP-seq
MIRT1244660	hsa-miR-4748	CLIP-seq
MIRT1244661	hsa-miR-4762-3p	CLIP-seq
MIRT1244662	hsa-miR-4766-5p	CLIP-seq
MIRT1244663	hsa-miR-4768-5p	CLIP-seq
MIRT1244664	hsa-miR-4775	CLIP-seq
MIRT1244665	hsa-miR-512-3p	CLIP-seq
MIRT1244666	hsa-miR-520f	CLIP-seq
MIRT1244667	hsa-miR-548u	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT1244669	hsa-miR-590-3p	CLIP-seq
MIRT1244670	hsa-miR-617	CLIP-seq
MIRT1244671	hsa-miR-624	CLIP-seq
MIRT1244672	hsa-miR-642b	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2072342	hsa-miR-1262	CLIP-seq
MIRT2072343	hsa-miR-31	CLIP-seq
MIRT2072344	hsa-miR-3611	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2072346	hsa-miR-3925-5p	CLIP-seq
MIRT2072347	hsa-miR-4453	CLIP-seq
MIRT2072348	hsa-miR-4493	CLIP-seq
MIRT2072349	hsa-miR-4499	CLIP-seq
MIRT2072350	hsa-miR-4513	CLIP-seq
MIRT2072351	hsa-miR-4538	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2072352	hsa-miR-4701-3p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2299516	hsa-miR-10a	CLIP-seq
MIRT2299517	hsa-miR-10b	CLIP-seq
MIRT2299518	hsa-miR-1296	CLIP-seq
MIRT2299519	hsa-miR-200b	CLIP-seq
MIRT2299520	hsa-miR-200c	CLIP-seq
MIRT2299521	hsa-miR-2115	CLIP-seq
MIRT2299522	hsa-miR-216a	CLIP-seq
MIRT2299523	hsa-miR-2909	CLIP-seq
MIRT2072343	hsa-miR-31	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2299525	hsa-miR-3152-5p	CLIP-seq
MIRT2299526	hsa-miR-3158-3p	CLIP-seq
MIRT2072344	hsa-miR-3611	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2299528	hsa-miR-384	CLIP-seq
MIRT2299529	hsa-miR-3919	CLIP-seq
MIRT2072346	hsa-miR-3925-5p	CLIP-seq
MIRT2299530	hsa-miR-429	CLIP-seq
MIRT2299531	hsa-miR-4330	CLIP-seq
MIRT2299532	hsa-miR-4446-3p	CLIP-seq
MIRT2072348	hsa-miR-4493	CLIP-seq
MIRT2299533	hsa-miR-4524	CLIP-seq
MIRT2299534	hsa-miR-4725-5p	CLIP-seq
MIRT2299535	hsa-miR-4728-3p	CLIP-seq
MIRT2299536	hsa-miR-4756-3p	CLIP-seq
MIRT2299537	hsa-miR-4803	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2299541	hsa-miR-504	CLIP-seq
MIRT2299542	hsa-miR-516a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT1244667	hsa-miR-548u	CLIP-seq
MIRT2596226	hsa-miR-101	CLIP-seq
MIRT2596227	hsa-miR-1183	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2596228	hsa-miR-1245	CLIP-seq
MIRT2596229	hsa-miR-1294	CLIP-seq
MIRT2596230	hsa-miR-129-5p	CLIP-seq
MIRT1244625	hsa-miR-1298	CLIP-seq
MIRT2596231	hsa-miR-144	CLIP-seq
MIRT2299519	hsa-miR-200b	CLIP-seq
MIRT2299520	hsa-miR-200c	CLIP-seq
MIRT2596232	hsa-miR-30a	CLIP-seq
MIRT2596233	hsa-miR-30b	CLIP-seq
MIRT2596234	hsa-miR-30c	CLIP-seq
MIRT2596235	hsa-miR-30d	CLIP-seq
MIRT2596236	hsa-miR-30e	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2596237	hsa-miR-3607-3p	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2596238	hsa-miR-3647-3p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2596239	hsa-miR-3686	CLIP-seq
MIRT2596240	hsa-miR-374c	CLIP-seq
MIRT2596241	hsa-miR-3915	CLIP-seq
MIRT2596242	hsa-miR-3928	CLIP-seq
MIRT2596243	hsa-miR-4257	CLIP-seq
MIRT1244649	hsa-miR-4282	CLIP-seq
MIRT2299530	hsa-miR-429	CLIP-seq
MIRT2596244	hsa-miR-4316	CLIP-seq
MIRT2596245	hsa-miR-450b-5p	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2596246	hsa-miR-4677-3p	CLIP-seq
MIRT2596247	hsa-miR-4709-5p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2596248	hsa-miR-4778-5p	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2596249	hsa-miR-507	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT2596250	hsa-miR-557	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2596251	hsa-miR-591	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2596252	hsa-miR-655	CLIP-seq
MIRT2596226	hsa-miR-101	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2596231	hsa-miR-144	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2596240	hsa-miR-374c	CLIP-seq
MIRT2596243	hsa-miR-4257	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2596251	hsa-miR-591	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2596252	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0004222	Function	Metalloendopeptidase activity	IDA	22354088
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	22354088
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA	21873635
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IDA	22354088
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	TAS
GO:0017087	Component	Mitochondrial processing peptidase complex	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 603131
• HGNC: 9119
• e!Ensembl: ENSG00000105819

Protein

• UniProt ID: O75439
• Protein name: Mitochondrial-processing peptidase subunit beta (EC 3.4.24.64) (Beta-MPP) (P-52)
• Protein function: Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (Probable) (PubMed:29576218). Preferentially, cleaves after an arginine at position P2 (B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00675	Peptidase_M16	68 → 215	Insulinase (Peptidase family M16)	Family
  PF05193	Peptidase_M16_C	220 → 404	Peptidase M16 inactive domain	Domain

• Sequence:

  MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRV
  TCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLE
  LEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILR
  EMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIV
  LAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAV
  EAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDT
  GLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICE
  DIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGPIKQLPDFKQI
  RSNMCWLRD

• Sequence length: 489

Pathways

Reactome:

Processing of SMDT1

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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
Developmental regression	Developmental regression	rs1224421127
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
Multiple mitochondrial dysfunctions syndrome	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, Multiple mitochondrial dysfunctions syndrome type 6	rs374514431, rs869320737, rs587777016, rs730882246, rs876657407, rs371546359, rs143492730, rs769222264, rs886039730, rs756085990, rs1354126704, rs145596167, rs200188353, rs1436866272, rs1461200360, rs73095427, rs1553264669, rs1553264725, rs769063859, rs765926471, rs1053773776, rs1261081427, rs781627051, rs1553264773, rs765132163, rs1587823007, rs1464338870, rs550855238, rs1209052568	29576218

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy