POLG(polymerase (DNA directed), gamma) 转至新版数据库

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

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基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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15q24
基因染色体位置图

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):]  线粒体DNA聚合酶异,包括附件亚基的同源二聚体加上催化亚基。由该基因编码的蛋白质是线粒体DNA聚合酶的催化亚基。所编码的蛋白质包含邻近其N-末端多聚谷氨酰胺道可能是多态的。这种基因缺陷与线粒体DNA缺失进步眼外肌麻痹1(PEOA1),感觉神经病变共济失调和构音障碍ophthalmoparesis(许三多)的原因,阿尔佩斯-Huttenlocher综合征(AHS)和线粒体neurogastrointestinal脑病综合征(MNGIE)。已发现了该基因编码的蛋白质相同的两个转录变异体。 [由RefSeq的,2008年7月提供]

POLG基因的碱基序列:[NCBI]
POLG基因的碱基突变:           显示全部snp
rs976072       rs1061316       rs1801377       rs1860021       rs1860022       rs2307427       rs2307436       rs2307438       rs2307443       rs2307454       rs3087374       rs3087375       rs3087376       rs3087377       rs3176236       rs3176238       rs3176241       rs3176247       rs3176248       rs3202396       rs41545724       rs56066671       rs56189571       rs56206444       rs62640037       rs62640038       rs74842339       rs111589949       rs113859489       rs115048121       rs115758754       rs116194994       rs138461165       rs139562274       rs142460560       rs142694381       rs143445952      
rs146301349       rs146584956       rs148365638       rs148786642       rs149921636       rs181961676       rs182146869       rs182928822       rs184650827       rs186201462       rs186543726       rs187943166       rs188348569       rs189105082       rs189180872       rs189937835       rs192368879       rs199678775       rs199751339       rs200390876       rs200788482       rs367876885       rs369058619       rs369115751       rs369438927       rs369544574       rs371454241       rs372128793       rs372449938       rs373776475       rs374142489       rs374183622       rs375815816       rs377263084       rs377534727       rs527419983       rs527807755       rs529182842       rs531174853       rs536260762       rs536522307       rs540354565       rs540446956       rs542563585       rs544746243       rs545559636       rs548231903       rs551979324       rs552379295       rs554513283       rs554635520       rs560246181       rs562551509       rs563185483       rs563913302       rs565514947       rs565584613       rs568031019       rs569063066       rs570733403       rs571347510       rs572636339       rs572965520       rs574349233       rs577092120       rs587781119       rs745920727       rs746044371       rs746348877       rs747345120       rs747627023       rs748268294       rs748490475       rs748855817       rs749123350       rs749343038       rs749355151       rs749605864       rs750218626       rs750792237       rs751116199       rs751676137       rs751698400       rs752239394       rs752500907       rs752712345       rs752920956       rs753020294       rs753616614       rs753864625       rs753955677       rs754573704       rs754844175       rs754900596       rs755726456       rs756156336       rs756325504       rs757792430       rs758587842       rs758720361       rs758856471       rs758880377       rs759189437       rs760359685       rs760496666       rs760908781       rs761103159       rs761373092       rs761859226       rs762019809       rs762441013       rs763205408       rs763469380       rs764018293       rs764233623       rs764428141       rs764634689       rs764796006       rs765220982       rs765344513       rs765549612       rs765962856       rs766021405       rs766196697       rs766919082       rs767363025       rs768009806       rs768181189       rs768360551       rs770149949       rs770976413       rs770992948       rs771059114       rs771174269       rs771520663       rs771578684       rs772034613       rs772612303       rs772737979       rs773004000       rs773062595       rs773468132       rs773676697       rs774314897       rs775048930       rs775569901       rs776031396       rs776506626       rs776595063       rs776908468       rs777231247       rs778115255       rs778130460       rs778199191       rs778611629       rs778788112       rs779072487       rs779326389       rs780226017       rs781256643       rs781311846       rs781373845       rs781498180       rs1054875       rs2239286       rs2283430       rs2286353       rs2529927       rs2856268       rs3087373       rs3087378       rs3087379       rs3176145       rs3176146       rs3176147       rs3176148       rs3176149       rs3176150       rs3176151       rs3176152       rs3176154       rs3176157       rs3176158       rs3176159       rs3176160       rs3176162       rs3809575       rs6496572       rs7168615       rs7170065       rs8029986       rs28567406       rs41545343       rs74382477       rs74451879       rs76574854       rs76783403       rs111294564       rs112171679       rs114007624       rs114488480       rs114543866       rs115109291       rs115360428       rs117637553       rs137920010       rs138731794       rs139134661       rs139599587       rs140417481       rs141693239       rs141753618       rs141780597       rs143238329       rs144033465       rs144439703       rs144782852       rs145281701       rs146245228       rs149324249       rs149410367       rs150164063       rs150534145       rs150780058       rs181563981       rs182136781       rs182225059       rs183188233       rs183222722       rs184370446       rs184510815       rs184800383       rs185855688       rs186336728       rs187776696       rs187850062       rs187924479       rs188619119       rs189571585       rs190835227       rs191124318       rs191357779       rs192208958       rs192772722       rs192906022       rs199760610       rs200090933       rs200132079       rs201016638       rs372076898       rs372505641       rs373324721       rs373334069       rs375445567       rs376249316       rs376296588       rs376683989       rs377118592       rs527965158       rs528542501       rs529844846       rs529981401       rs530268066       rs530536298       rs531422315       rs531895253       rs532346284       rs532410956       rs532416411       rs532616754       rs532868051       rs533584870       rs534812598       rs534949371       rs535213599       rs536353113       rs537388134       rs537915580       rs538830950       rs539052207       rs539290105       rs539315421       rs539515129       rs540905618       rs541355567       rs541426818       rs541612957       rs542307335       rs543251509       rs543717273       rs543798324       rs544458028       rs544735531       rs545873919       rs546800106       rs546870549       rs547044295       rs547106431       rs547909844       rs548854511       rs548988746       rs549083400       rs550098048       rs550472658       rs550999739       rs551077610       rs553137808       rs553187713       rs553250811       rs553258253       rs553331485       rs553397365       rs555247771       rs555323373       rs555384713       rs555646715       rs555998605       rs556175571       rs556626453       rs557777069       rs558958919       rs559496174       rs560482663       rs560969024       rs561912004       rs562671760       rs562847013       rs563769686       rs564545885       rs565183771       rs565679188       rs565793199       rs567110167       rs567279354       rs567392690       rs567416788       rs567426631       rs567791866       rs568058975       rs568349153       rs568987250       rs569513466       rs569563012       rs569663875       rs570989155       rs571314301       rs572560646       rs573722529       rs573900745       rs573981209       rs574973074       rs575307315       rs576399921       rs576781941       rs587781116       rs745310138       rs745813477       rs745843158       rs746189145       rs746364617       rs746450616       rs746903497       rs747828222       rs747837325       rs748448370       rs749018627       rs749250549       rs749539964       rs749750052       rs750010376       rs750555988       rs750915606       rs750928338       rs751130039       rs751225754       rs751340430       rs751813427       rs752556685       rs752708866       rs752892262       rs753739487       rs753858440       rs754079243       rs754310108       rs754748773       rs755314863       rs755404918       rs755553960       rs756443693       rs756447384       rs756735228       rs757029119       rs757336380       rs758077958       rs758215317       rs758359050       rs758454871       rs758615496       rs759307950       rs759939229       rs760135553       rs760170099       rs761007903       rs761248036       rs761301063       rs761349383       rs761417163       rs761648850       rs762582785       rs762634036       rs763390241       rs763592738       rs763917706       rs763968001       rs764055826       rs764222162       rs764544892       rs765015505       rs765472726       rs765542094       rs766501874       rs766842881       rs766932926       rs766962517       rs767466416       rs767576217       rs767637320       rs768005050       rs768242927       rs768473974       rs768875981       rs769214289       rs769547245       rs770143385       rs770543008       rs770885465       rs770957635       rs771221761       rs771576687       rs771676521       rs772048616       rs772928467       rs773375256       rs773882973       rs774011106       rs774459114       rs774537232       rs774610298       rs774768199       rs775332586       rs775777215       rs776347449       rs776709929       rs776837311       rs777228398       rs777759802       rs778608349       rs778753625       rs779122022       rs779208296       rs779409525       rs779981823       rs780010436       rs780379693       rs780387412       rs780610267       rs781006710       rs781142923       rs2074885       rs2307434       rs2307444       rs2307447       rs2307453       rs2351000       rs2351001       rs3176174       rs3176175       rs3176176       rs3176177       rs3176179       rs3176183       rs34059780       rs55962804       rs56303756       rs56306142       rs56317445       rs56349446       rs61752783       rs62640034       rs62640035       rs74031922       rs74516766       rs76327667       rs78405366       rs112237123       rs113994095       rs114943002       rs115009301       rs116165908       rs121918052       rs139086616       rs139181951       rs139707628       rs141422952       rs142563960       rs142994552       rs145289229       rs145496284       rs145843073       rs146705808       rs147036984       rs147404477       rs148697152       rs149687731       rs150828914       rs151095156       rs180754827       rs182470216       rs182649234       rs185340425       rs185456242       rs186907682       rs187354218       rs188788298       rs189753833       rs190262367       rs192111241       rs192386269       rs193253420       rs199621975       rs199759055       rs199856571       rs200399546       rs200895600       rs201097813       rs201566815       rs202117797       rs368003454       rs368614463       rs369293614       rs369593231       rs371249778       rs371431444       rs371743135       rs372614123       rs372759057       rs372911506       rs373173527       rs373272041       rs373716128       rs375568071       rs376649412       rs376895501       rs377280655       rs377462878       rs527635991       rs529156182       rs529639381       rs532015756       rs534475232       rs535681407       rs537156830       rs539191597       rs540868546       rs541579481       rs542273514       rs545399299       rs545659998       rs545985767       rs550234815       rs550410765       rs550684895       rs551086157       rs552085869       rs553602522       rs555939259       rs556707378       rs557317990       rs559629965       rs559937676       rs562247771       rs564451055       rs565971057       rs569277153       rs570352898       rs573737906       rs574066974       rs574471378       rs575662419       rs577476988       rs577540704       rs587780420       rs745506700       rs745790325       rs746019264       rs746080011       rs746353157       rs746422269       rs746876298       rs746952943       rs747054217       rs747216779       rs747270023       rs747485523       rs747670077       rs748357249       rs748412462       rs748588305       rs748654209       rs748923768       rs749150930       rs749195383       rs749250690       rs749437305       rs749672126       rs749715845       rs749805848       rs750013509       rs750340050       rs750393453       rs750787511       rs750793357       rs750875156       rs751221993       rs751396113       rs751496337       rs751761350       rs752021570       rs752028263       rs752086124       rs752240321       rs752398019       rs752606247       rs753171733       rs753263530       rs753981217       rs754246294       rs754301548       rs754586219       rs754622615       rs754641736       rs755353519       rs755402815       rs755432801       rs755552597       rs755936404       rs755989829       rs756177344       rs756376617       rs756562363       rs756719930       rs756952607       rs757315161       rs757408885       rs757540482       rs757804090       rs758112770       rs758315738       rs758732734       rs758798352       rs759455731       rs759511776       rs759805263       rs760161593       rs760168164       rs760209861       rs760681350       rs760878504       rs761452262       rs761504232       rs761536732       rs761922529       rs762153604       rs762247209       rs762592137       rs762878459       rs763418954       rs763550865       rs763678853       rs763775923       rs764268953       rs764522213       rs764756949       rs764912626       rs765148442       rs765446994       rs765779676       rs765836895       rs765900559       rs766242100       rs766642152       rs766847468       rs766909265       rs767216577       rs767256165       rs767302524       rs767303820       rs767802442       rs767900699       rs768288418       rs768707883       rs768831752       rs768861903       rs769062935       rs769410234       rs769423452       rs769637557       rs769778765       rs770203176       rs770327181       rs770601221       rs770642457       rs770920449       rs771623994       rs771921569       rs772225404       rs772229135       rs772282616       rs772461291       rs772517522       rs772748692       rs773035422       rs773418477       rs773471806       rs773583253       rs773947535       rs774120820       rs774206201       rs774369388       rs774556789       rs774610098       rs774879097       rs775184544       rs775461932       rs775538075       rs775576189       rs776391976       rs776623760       rs776787486       rs776821667       rs777021197       rs777262260       rs777315421       rs777537423       rs777706086       rs777985236       rs778077819       rs778308582       rs778662837       rs779353857       rs779442087       rs779789882       rs780015003       rs780077174       rs780128576       rs780275335       rs780365511       rs780519305       rs780574327       rs780695124       rs780839177       rs780901280       rs781040613       rs781128123       rs781181789       rs781420025       rs781523167       rs781617079       rs869032761       rs176638       rs758130       rs1860023       rs2072266       rs2072267       rs2074883       rs2074884       rs2238296       rs2238297       rs2238298       rs2246900       rs2247233       rs2302084       rs2307428       rs2307429       rs2307430       rs2307431       rs2307432       rs2307433       rs2307435       rs2307437       rs2307439       rs2307440       rs2307441       rs2307442       rs2307445       rs2307446       rs2307448       rs2307449       rs2307450       rs2307451       rs2307452       rs2307453       rs2351002       rs3176168       rs3176171       rs3176172       rs3176188       rs3176189       rs3176190       rs3176191       rs3176192       rs3176193       rs3176200       rs3176201       rs3176202       rs3176203       rs3176205       rs3176206       rs3176207       rs3176208       rs3176209       rs3176213       rs3176214       rs3176216       rs3176217       rs3176218       rs3176220       rs3176221       rs3176222       rs3176228       rs3176229       rs3176230       rs3176231       rs8029649       rs8032519       rs10558438       rs10637324       rs11073857       rs11300269       rs11546842       rs11629848 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rs764195223       rs764259797       rs764287987       rs764367922       rs764464230       rs764492040       rs764554311       rs764833370       rs764885029       rs765009891       rs765035717       rs765053071       rs765123635       rs765217205       rs765339802       rs765339818       rs765381733       rs765427147       rs765506021       rs765521610       rs765538917       rs765593890       rs765610946       rs765638362       rs765752408       rs765838297       rs765916932       rs765949668       rs766053530       rs766185908       rs766188998       rs766283304       rs766414821       rs766465907       rs766482176       rs766485086       rs766521182       rs766597771       rs766654932       rs766688110       rs766772256       rs766830796       rs766945677       rs767138032       rs767159745       rs767168260       rs767251137       rs767285143       rs767339769       rs767348424       rs767509053       rs767591774       rs767666123       rs767669686       rs767708989       rs767709505       rs767751301       rs767847808       rs767895645       rs768028281       rs768135549       rs768362053       rs768653086       rs768884865       rs768920828       rs768939255       rs768997098       rs769090772       rs769104909       rs769122451       rs769193603       rs769210629       rs769306875       rs769328030       rs769346219       rs769407407       rs769410130       rs769461144       rs769491373       rs769536434       rs769593311       rs769685778       rs769780988       rs769827124       rs769931280       rs770109946       rs770115219       rs770236576       rs770364470       rs770438363       rs770452560       rs770458126       rs770554422       rs770668521       rs770671583       rs770672062       rs770800532       rs770814602       rs770829807       rs771148606       rs771177856       rs771254207       rs771282717       rs771321898       rs771359953       rs771410894       rs771537545       rs771566653       rs771719248       rs771764339       rs771822843       rs771842845       rs771896313       rs771980703       rs772035848       rs772333285       rs772509321       rs772617723       rs772814334       rs772867820       rs772876512       rs772976963       rs772984090       rs773052089       rs773057255       rs773073959       rs773093823       rs773141988       rs773280577       rs773341540       rs773506362       rs773605810       rs773617892       rs773697653       rs773815932       rs773994204       rs774005462       rs774053485       rs774201231       rs774302250       rs774317588       rs774474723       rs774480291       rs774496711       rs774599342       rs774676951       rs774694592       rs774707044       rs774744083       rs774851005       rs774880085       rs774888597       rs774932187       rs774986637       rs775051288       rs775058599       rs775168496       rs775248939       rs775260762       rs775289884       rs775367938       rs775445970       rs775577764       rs775635835       rs775651351       rs775662032       rs775709180       rs775769107       rs775872024       rs775906376       rs775997814       rs776223547       rs776376463       rs776437525       rs776468044       rs776555301       rs776594830       rs776669296       rs776720231       rs776848222       rs776924440       rs777038915       rs777059857       rs777132898       rs777378899       rs777464475       rs777477062       rs777520478       rs777618338       rs777809569       rs777815830       rs777832179       rs777893046       rs777931147       rs778008501       rs778172428       rs778190998       rs778220520       rs778253752       rs778281076       rs778429780       rs778484334       rs778486175       rs778531134       rs778573169       rs778673173       rs778750911       rs778825917       rs778849415       rs778936728       rs778952071       rs779151800       rs779152757       rs779278083       rs779320822       rs779363917       rs779502496       rs779515404       rs779527310       rs779570390       rs779606365       rs779956099       rs779961986       rs779964885       rs780017269       rs780023979       rs780096431       rs780190623       rs780208603       rs780378329       rs780501001       rs780512197       rs780703742       rs780723692       rs780775849       rs780880601       rs780944616       rs780953863       rs781130302       rs781247953       rs781347964       rs781364914       rs781461415       rs781774787       rs869189221      

POLG基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向引物Tm值
反向引物序列
反向引物Tm值
rank
CGTATCAGCTCCCAGATGG
60
CCTTCCTCATCATAGTCGGG
60
ACTACTCAGAGCGTCATGG
59
GACTCGATGGCTCTGTAGG
59
TATCACCATGGCAATGGAC
58
TATTACCATCCTTGTGAGGC
57
ATGGATCAGGAAGACCTCG
59
CTTCAGCTTCTGCAAGCAG
60
CTACAGAGCCATCGAGTCC
59
AGTTCTTCTACCGTTTGCCA
60
CCATGGATCAGGAAGACCTC
60
CTTCAGCTTCTGCAAGCAG
60
TTAATGCTTTCAGGCATGGC
60
CCAGGAATACCTTATCTATTTAGCC
59
CCTCTGCACTACTCAGAGC
60
GACTCGATGGCTCTGTAGG
59
AGGAAGGAAGTGACCATGG
59
AAATATCCAGCGCTTCACC
58
TCTTCTTGGAGAGGTGTCC
58
TCCCAGTTCTGGTTGACAG
59
      尚未收录相关数据

POLG基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

POLG基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0003677
A0A0D9SFM1(UniProtKB)
IEA
GO:0005760
A0A0D9SFM1(UniProtKB)
IEA
GO:0006260
A0A0D9SFM1(UniProtKB)
IEA
GO:0003677
H0YCD2(UniProtKB)
IEA
GO:0005760
H0YCD2(UniProtKB)
IEA
GO:0006260
H0YCD2(UniProtKB)
IEA
GO:0003677
H0YCV2(UniProtKB)
IEA
GO:0005760
H0YCV2(UniProtKB)
IEA
GO:0006260
H0YCV2(UniProtKB)
IEA
GO:0003677
H0YD36(UniProtKB)
IEA
GO:0003887
H0YD36(UniProtKB)
IEA
GO:0005760
H0YD36(UniProtKB)
IEA
GO:0006260
H0YD36(UniProtKB)
IEA
GO:0071897
H0YD36(UniProtKB)
IEA
GO:0003677
H0YDF1(UniProtKB)
IEA
GO:0005760
H0YDF1(UniProtKB)
IEA
GO:0006260
H0YDF1(UniProtKB)
IEA
GO:0003677
H0YE43(UniProtKB)
IEA
GO:0005760
H0YE43(UniProtKB)
IEA
GO:0006260
H0YE43(UniProtKB)
IEA
GO:0002020
P54098(UniProtKB)
IPI
GO:0003677
P54098(UniProtKB)
IEA
GO:0003682
P54098(UniProtKB)
IDA
GO:0003887
P54098(UniProtKB)
IDA
GO:0003887
P54098(UniProtKB)
IDA
GO:0005515
P54098(UniProtKB)
IPI
GO:0005515
P54098(UniProtKB)
IPI
GO:0005515
P54098(UniProtKB)
IPI
GO:0005515
P54098(UniProtKB)
IPI
GO:0005515
P54098(UniProtKB)
IPI
GO:0005739
P54098(UniProtKB)
TAS
GO:0005760
P54098(UniProtKB)
IEA
GO:0006259
P54098(UniProtKB)
TAS
GO:0006261
P54098(UniProtKB)
TAS
GO:0006264
P54098(UniProtKB)
IBA
GO:0006287
P54098(UniProtKB)
IDA
GO:0007568
P54098(UniProtKB)
IEA
GO:0008408
P54098(UniProtKB)
IBA
GO:0009416
P54098(UniProtKB)
IEA
GO:0010332
P54098(UniProtKB)
IEA
GO:0042645
P54098(UniProtKB)
IDA
GO:0043195
P54098(UniProtKB)
IEA
GO:0043234
P54098(UniProtKB)
IDA
GO:0055093
P54098(UniProtKB)
IEA
GO:0070062
P54098(UniProtKB)
IDA
GO:0071333
P54098(UniProtKB)
IEA
GO:0071897
P54098(UniProtKB)
IEA
GO:0090305
P54098(UniProtKB)
IEA
基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

可能调控POLG基因的相关microRNA:     


通路基因列表
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Alpers Syndrome (disorder) 0.48868614 40 8 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0.480542884 12 9 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 0.480542884 13 13 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 0.36 6 6 CLINVAR_CTD_human_UNIPROT
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 0.36 3 7 CLINVAR_CTD_human_UNIPROT
Mitochondrial Diseases 0.255763492 40 6 BeFree_CLINVAR_CTD_human_LHGDN
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 0.24 0 2 CLINVAR_CTD_human
Chronic progressive external ophthalmoplegia 0.158406295 33 1 BeFree_CTD_human_GAD_LHGDN
Parkinsonian Disorders 0.14041773 18 2 BeFree_CTD_human_LHGDN
Diffuse Cerebral Sclerosis of Schilder 0.139507596 29 3 BeFree_CTD_human_GAD_LHGDN
Male infertility 0.136459603 11 0 BeFree_CTD_human_GAD_LHGDN
Seizures 0.126448592 7 0 BeFree_CTD_human_GAD_LHGDN
Epilepsy 0.122985861 12 2 BeFree_CTD_human
Menopause present (finding) 0.122367032 1 1 GAD_GWASCAT
Peripheral Neuropathy 0.120542884 3 2 BeFree_CTD_human
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 0.120542884 2 3 BeFree_CLINVAR
Charcot-Marie-Tooth Disease 0.120271442 1 2 BeFree_CLINVAR
Leigh Disease 0.120271442 3 0 BeFree_UNIPROT
Drug-Induced Liver Injury 0.12 2 0 CTD_human
Status Epilepticus 0.081628651 7 1 BeFree_RGD
Diabetes Mellitus, Experimental 0.08 1 0 RGD
MYELODYSPLASTIC SYNDROME 0.08 0 0 MGD
Parkinson Disease 0.010911214 5 0 BeFree_GAD_LHGDN
Ovarian Failure, Premature 0.007372538 4 0 BeFree_GAD
Ataxia 0.006524536 15 2 BeFree_LHGDN
Neurodegenerative Disorders 0.003538676 3 0 BeFree_LHGDN
Acidosis, Lactic 0.003267234 3 0 BeFree_LHGDN
Tremor 0.002995792 2 0 BeFree_LHGDN
Polyneuropathy 0.002995792 2 0 BeFree_LHGDN
Liver Failure, Acute 0.002995792 2 0 BeFree_LHGDN
MERRF Syndrome 0.002995792 2 0 BeFree_LHGDN
Mood Disorders 0.002995792 2 0 BeFree_LHGDN
Ataxia Neuropathy Spectrum 0.002985861 11 2 BeFree
Cardiomyopathy, Dilated 0.00272435 1 0 LHGDN
Failure to Thrive 0.00272435 1 0 LHGDN
Sensorineural Hearing Loss (disorder) 0.00272435 1 0 LHGDN
Neoplasms, Germ Cell and Embryonal 0.00272435 1 0 LHGDN
Blindness, Cortical 0.00272435 1 0 LHGDN
HIV Infections 0.002638474 2 0 BeFree_GAD
Multiple Sclerosis 0.002638474 2 0 BeFree_GAD
Malignant neoplasm of urinary bladder 0.002367032 1 0 GAD
Diabetes Mellitus, Insulin-Dependent 0.002367032 1 0 GAD
Friedreich Ataxia 0.002367032 1 0 GAD
Headache 0.002367032 1 0 GAD
Hypertensive disease 0.002367032 1 0 GAD
Lipodystrophy 0.002367032 1 0 GAD
Obesity 0.002367032 1 0 GAD
Polycystic Ovary Syndrome 0.002367032 1 0 GAD
Delayed Puberty 0.002367032 1 0 GAD
Precocious Puberty 0.002367032 1 0 GAD
Tobacco Use Disorder 0.002367032 1 0 GAD
Thrombophilia 0.002367032 1 0 GAD
Chromosomal Instability 0.002367032 1 0 GAD
46, XX Disorders of Sex Development 0.002367032 1 0 GAD
Liver Failure 0.001357209 5 4 BeFree
Mitochondrial Myopathies 0.001357209 5 0 BeFree
Ataxic 0.001357209 5 0 BeFree
Depletion of mitochondrial DNA 0.001357209 5 0 BeFree
nervous system disorder 0.001085767 4 0 BeFree
Ophthalmoplegia 0.001085767 4 0 BeFree
Cerebrovascular accident 0.001085767 4 0 BeFree
Ophthalmoparesis 0.001085767 4 1 BeFree
Malignant neoplasm of breast 0.000814326 3 0 BeFree
Optic Atrophy 0.000814326 3 0 BeFree
Encephalopathies 0.000814326 3 0 BeFree
MELAS Syndrome 0.000814326 3 0 BeFree
Breast Carcinoma 0.000814326 3 0 BeFree
Drug Resistant Epilepsy 0.000814326 3 0 BeFree
Kearns-Sayre syndrome 0.000542884 2 0 BeFree
Myopathy 0.000542884 2 0 BeFree
Oligospermia 0.000542884 2 0 BeFree
Epilepsia Partialis Continua 0.000542884 2 0 BeFree
Sensory neuropathy 0.000542884 2 0 BeFree
External Ophthalmoplegia 0.000542884 2 0 BeFree
Peripheral motor neuropathy 0.000542884 2 0 BeFree
Leukoencephalopathies 0.000542884 2 1 BeFree
Neuropathy 0.000542884 2 0 BeFree
Infantile Severe Myoclonic Epilepsy 0.000542884 2 0 BeFree
Adult Acute Lymphocytic Leukemia 0.000542884 2 0 BeFree
Cardiomyopathies 0.000542884 2 0 BeFree
COENZYME Q10 DEFICIENCY 0.000542884 2 0 BeFree
Alzheimer's Disease 0.000271442 1 0 BeFree
Amenorrhea 0.000271442 1 0 BeFree
Autistic Disorder 0.000271442 1 0 BeFree
Bipolar Disorder 0.000271442 1 0 BeFree
Blepharoptosis 0.000271442 1 2 BeFree
Encephalitis 0.000271442 1 0 BeFree
Epilepsies, Myoclonic 0.000271442 1 0 BeFree
Hepatic Encephalopathy 0.000271442 1 1 BeFree
Keratoconus 0.000271442 1 0 BeFree
Myoclonus 0.000271442 1 0 BeFree
Ptosis 0.000271442 1 2 BeFree
Shy-Drager Syndrome 0.000271442 1 0 BeFree
Premature aging syndrome 0.000271442 1 0 BeFree
Inclusion Body Myositis (disorder) 0.000271442 1 0 BeFree
Ataxia, Sensory 0.000271442 1 0 BeFree
Axonal neuropathy 0.000271442 1 0 BeFree
Malignant neoplasm of prostate 0.000271442 1 0 BeFree
Multiple System Atrophy 0.000271442 1 0 BeFree
INFERTILITY/SUBFERTILITY MALE 0.000271442 1 0 BeFree
Epileptic encephalopathy 0.000271442 1 0 BeFree
Prostate carcinoma 0.000271442 1 0 BeFree
Epithelial ovarian cancer 0.000271442 1 0 BeFree
Subfertility 0.000271442 1 0 BeFree
Focal Dystonia 0.000271442 1 0 BeFree
Ovarian adenocarcinoma 0.000271442 1 0 BeFree
Liver regeneration disorder 0.000271442 1 0 BeFree
Mammary Neoplasms 0.000271442 1 0 BeFree
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 0.000271442 1 0 BeFree
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