Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5428
Gene name Gene Name - the full gene name approved by the HGNC.	DNA polymerase gamma, catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POLG
Synonyms (NCBI Gene) Gene synonyms aliases	MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q26.1
Summary Summary of gene provided in NCBI Entrez Gene.	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 polyglutami

Show/Hide all(192)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2307437	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant
rs2307440	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs2307448	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Intron variant
rs3087378	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant
rs3176162	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs11546842	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs41549716	T>C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs55779802	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs56047213	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61752784	C>G	Uncertain-significance, not-provided, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113994093	C>T	Pathogenic	Missense variant, coding sequence variant
rs113994094	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs113994096	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs113994097	C>G	Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs113994098	C>T	Not-provided, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs113994099	T>C	Pathogenic	Missense variant, coding sequence variant
rs115109291	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918044	A>C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918045	C>G	Pathogenic	Missense variant, coding sequence variant
rs121918046	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918047	C>A	Pathogenic	Coding sequence variant, stop gained
rs121918048	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918049	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918050	T>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918051	C>A,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918053	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121918054	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918056	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs138457939	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138917386	C>T	Pathogenic	Splice donor variant
rs138929605	T>A,C,G	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs139488968	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs139590686	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs139599587	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs139717885	G>A,C	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs140079523	C>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs141367015	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141538857	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142347031	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs143631183	C>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs143810171	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs144439703	G>A,C	Likely-pathogenic, benign, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs144500145	G>A	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146936870	G>C,T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147282197	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147407423	G>A	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147563527	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs181860632	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200056162	GAG>-,GAGGAG	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs201477273	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs201732356	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs201749977	A>G	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs202037973	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202039305	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606959	G>A	Pathogenic	Coding sequence variant, missense variant
rs367610201	A>G	Pathogenic	Coding sequence variant, missense variant
rs368435864	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs368587966	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs371334941	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs373550219	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs374937961	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375305567	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs375935084	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376306906	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs377390914	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs531744363	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs548076633	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs550592814	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs551973680	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs555280530	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs562847013	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs566373471	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs568913937	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs745310138	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs745539599	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs747632869	A>T	Likely-pathogenic	Splice donor variant
rs751376824	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs752892262	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs753160398	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs753410045	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs754615624	G>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs755315398	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs757120802	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs758402960	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs758438414	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs758613718	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs759128787	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs761080016	CGC>-,CGCCGC	Likely-benign, conflicting-interpretations-of-pathogenicity	Inframe insertion, inframe deletion, coding sequence variant
rs761649878	G>C	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs763312940	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs763393580	C>G,T	Pathogenic, not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs764036283	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs764287987	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs765472726	C>A,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765916932	A>C,G	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs766465907	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs767138032	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs767708989	G>A	Pathogenic	Stop gained, coding sequence variant
rs767709505	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs769210629	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs769346219	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs769410130	G>A,C	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs769735492	TTGCTGCTG>-,TTGCTGCTGTTGCTGCTG	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Inframe insertion, inframe deletion, coding sequence variant
rs769827124	G>A	Pathogenic, likely-pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs770115219	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs770438363	T>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs771254207	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs774768199	G>A	Pathogenic	Coding sequence variant, stop gained
rs775445970	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs778429780	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs778573169	T>A,C	Pathogenic	Intron variant
rs780953863	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052887	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs796052888	C>T	Pathogenic	Coding sequence variant, missense variant
rs796052889	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052890	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052891	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052892	G>T	Likely-pathogenic	Intron variant
rs796052899	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796052906	G>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs796052907	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052919	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs867038717	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs878854560	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs886041047	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886041276	CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041592	G>A	Pathogenic	Coding sequence variant, missense variant
rs886051522	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs935602068	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs963553787	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs1001570418	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1003442806	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1021719232	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517803	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517891	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1064793493	C>G	Pathogenic	Splice acceptor variant
rs1064793800	->AACA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1064794213	->GGC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1064794214	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1064794735	GCAGGCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307976	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1254855971	G>A	Pathogenic	Stop gained, coding sequence variant
rs1282521429	->GTCCACGTCGTTGT	Pathogenic	Coding sequence variant, frameshift variant
rs1283198587	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1290567099	A>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1332921412	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1356604153	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1405268319	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1447799185	C>-,CC,CCCC	Pathogenic	Frameshift variant, coding sequence variant, inframe insertion
rs1484810169	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555452453	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555452461	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555452607	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555452983	T>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs1555453824	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1567185026	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1567185048	->CTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1567185178	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567185468	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567185603	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567185770	G>A	Pathogenic	Coding sequence variant, stop gained
rs1567185775	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567186581	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567186591	A>T	Pathogenic	Coding sequence variant, missense variant
rs1567186613	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567186614	G>A	Pathogenic	Coding sequence variant, missense variant
rs1567186779	T>G	Pathogenic	Coding sequence variant, missense variant
rs1567186787	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567187057	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567187093	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567187103	->GC	Pathogenic	Coding sequence variant, frameshift variant
rs1567187326	C>T	Pathogenic	Splice donor variant
rs1567187745	C>G	Pathogenic	Splice donor variant
rs1567187766	CAT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1567188178	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567188588	C>T	Pathogenic	Splice donor variant
rs1567188632	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567190247	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567192203	C>G	Pathogenic	Splice acceptor variant
rs1567192879	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567192884	->T	Pathogenic	Coding sequence variant, stop gained
rs1567193844	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567194013	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567194243	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1596350117	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596350386	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1596352300	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1596352762	A>G	Likely-pathogenic	Splice donor variant
rs1596352895	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596354607	GC>CT	Pathogenic	Intron variant
rs1596359629	->TGTTTGCCCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1596360430	C>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028963	hsa-miR-26b-5p	Microarray	19088304
MIRT046950	hsa-miR-221-3p	CLASH	23622248
MIRT041750	hsa-miR-484	CLASH	23622248
MIRT039938	hsa-miR-615-3p	CLASH	23622248
MIRT038412	hsa-miR-296-3p	CLASH	23622248
MIRT649332	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT649331	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT649330	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649329	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT649328	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT649327	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT649326	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT649325	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT649324	hsa-miR-765	HITS-CLIP	23824327
MIRT649323	hsa-miR-6894-5p	HITS-CLIP	23824327
MIRT649321	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT649322	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT649320	hsa-miR-421	HITS-CLIP	23824327
MIRT649318	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT649319	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT649317	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT649316	hsa-miR-4443	HITS-CLIP	23824327
MIRT649315	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT649332	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT649331	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT649330	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649329	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT649328	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT649327	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT649326	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT649325	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT649324	hsa-miR-765	HITS-CLIP	23824327
MIRT649323	hsa-miR-6894-5p	HITS-CLIP	23824327
MIRT649321	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT649322	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT649320	hsa-miR-421	HITS-CLIP	23824327
MIRT649318	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT649319	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT649317	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT649316	hsa-miR-4443	HITS-CLIP	23824327
MIRT649315	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT1247650	hsa-miR-2682	CLIP-seq
MIRT1247651	hsa-miR-34a	CLIP-seq
MIRT1247652	hsa-miR-34c-5p	CLIP-seq
MIRT1247653	hsa-miR-449a	CLIP-seq
MIRT1247654	hsa-miR-449b	CLIP-seq
MIRT1247655	hsa-miR-449c	CLIP-seq
MIRT1247656	hsa-miR-4514	CLIP-seq
MIRT1247657	hsa-miR-4645-5p	CLIP-seq
MIRT1247658	hsa-miR-4673	CLIP-seq
MIRT1247659	hsa-miR-4692	CLIP-seq
MIRT1247660	hsa-miR-4797-5p	CLIP-seq
MIRT1247661	hsa-miR-2278	CLIP-seq
MIRT1247662	hsa-miR-2355-3p	CLIP-seq
MIRT1247663	hsa-miR-3124-3p	CLIP-seq
MIRT1247664	hsa-miR-3127-3p	CLIP-seq
MIRT1247665	hsa-miR-3679-3p	CLIP-seq
MIRT1247666	hsa-miR-3977	CLIP-seq
MIRT1247667	hsa-miR-4260	CLIP-seq
MIRT1247668	hsa-miR-4272	CLIP-seq
MIRT1247669	hsa-miR-4283	CLIP-seq
MIRT1247670	hsa-miR-4312	CLIP-seq
MIRT1247671	hsa-miR-432	CLIP-seq
MIRT1247672	hsa-miR-4424	CLIP-seq
MIRT1247673	hsa-miR-4452	CLIP-seq
MIRT1247674	hsa-miR-4489	CLIP-seq
MIRT1247675	hsa-miR-4539	CLIP-seq
MIRT1247676	hsa-miR-4642	CLIP-seq
MIRT1247677	hsa-miR-4680-3p	CLIP-seq
MIRT1247678	hsa-miR-4682	CLIP-seq
MIRT1247679	hsa-miR-4781-3p	CLIP-seq
MIRT1247680	hsa-miR-486-5p	CLIP-seq
MIRT1247681	hsa-miR-569	CLIP-seq
MIRT1247682	hsa-miR-579	CLIP-seq
MIRT1247683	hsa-miR-657	CLIP-seq
MIRT1247684	hsa-miR-659	CLIP-seq
MIRT1247685	hsa-miR-676	CLIP-seq
MIRT1247666	hsa-miR-3977	CLIP-seq
MIRT1247682	hsa-miR-579	CLIP-seq
MIRT2456829	hsa-miR-129-3p	CLIP-seq
MIRT2456830	hsa-miR-3122	CLIP-seq
MIRT2456831	hsa-miR-3130-3p	CLIP-seq
MIRT2456832	hsa-miR-3176	CLIP-seq
MIRT2456833	hsa-miR-3652	CLIP-seq
MIRT2456834	hsa-miR-3689a-3p	CLIP-seq
MIRT2456835	hsa-miR-3689c	CLIP-seq
MIRT2456836	hsa-miR-3913-5p	CLIP-seq
MIRT2456837	hsa-miR-3922-3p	CLIP-seq
MIRT2456838	hsa-miR-4293	CLIP-seq
MIRT2456839	hsa-miR-4300	CLIP-seq
MIRT2456840	hsa-miR-4423-3p	CLIP-seq
MIRT2456841	hsa-miR-4430	CLIP-seq
MIRT2456842	hsa-miR-4505	CLIP-seq
MIRT2456843	hsa-miR-450b-5p	CLIP-seq
MIRT1247678	hsa-miR-4682	CLIP-seq
MIRT2456844	hsa-miR-4766-5p	CLIP-seq
MIRT2456845	hsa-miR-507	CLIP-seq
MIRT2456846	hsa-miR-518a-5p	CLIP-seq
MIRT2456847	hsa-miR-527	CLIP-seq
MIRT2456848	hsa-miR-557	CLIP-seq
MIRT2456849	hsa-miR-596	CLIP-seq
MIRT2456850	hsa-miR-767-5p	CLIP-seq
MIRT2456851	hsa-miR-920	CLIP-seq
MIRT2456829	hsa-miR-129-3p	CLIP-seq
MIRT2456832	hsa-miR-3176	CLIP-seq
MIRT2456833	hsa-miR-3652	CLIP-seq
MIRT2456837	hsa-miR-3922-3p	CLIP-seq
MIRT2456840	hsa-miR-4423-3p	CLIP-seq
MIRT2456841	hsa-miR-4430	CLIP-seq
MIRT2456842	hsa-miR-4505	CLIP-seq
MIRT2456829	hsa-miR-129-3p	CLIP-seq
MIRT2456832	hsa-miR-3176	CLIP-seq
MIRT2456833	hsa-miR-3652	CLIP-seq
MIRT2456837	hsa-miR-3922-3p	CLIP-seq
MIRT2456840	hsa-miR-4423-3p	CLIP-seq
MIRT2456841	hsa-miR-4430	CLIP-seq
MIRT2456842	hsa-miR-4505	CLIP-seq
MIRT2456843	hsa-miR-450b-5p	CLIP-seq
MIRT2456845	hsa-miR-507	CLIP-seq
MIRT2456846	hsa-miR-518a-5p	CLIP-seq
MIRT2456847	hsa-miR-527	CLIP-seq
MIRT2456848	hsa-miR-557	CLIP-seq

Show/Hide all(53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000262	Component	Mitochondrial chromosome	IDA	26253742
GO:0002020	Function	Protease binding	IPI	14739292
GO:0003677	Function	DNA binding	IDA	10608893
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	18063578
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	10608893, 11897778, 15164064, 15177179, 19837034, 19858216, 26056153, 26095671, 26123486, 26446790, 28430993, 37202477
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IMP	26554610
GO:0003887	Function	DNA-directed DNA polymerase activity	TAS	8884268, 9034326
GO:0005515	Function	Protein binding	IPI	10608893, 16263719, 16488880, 17762861, 19837034, 26496610, 28514442, 33855352, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8884268
GO:0005759	Component	Mitochondrial matrix	IDA	19837034
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005760	Component	Gamma DNA polymerase complex	IDA	10608893, 19837034, 19858216, 26056153, 26123486, 26446790, 26554610, 37202477
GO:0005760	Component	Gamma DNA polymerase complex	IEA
GO:0005760	Component	Gamma DNA polymerase complex	IPI	19837034
GO:0006259	Process	DNA metabolic process	TAS	8884268
GO:0006260	Process	DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	IDA	10608893, 15167897, 19837034, 19858216, 26123486, 26446790, 28430993
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	TAS	3619920
GO:0006264	Process	Mitochondrial DNA replication	IBA
GO:0006264	Process	Mitochondrial DNA replication	IDA	19837034
GO:0006264	Process	Mitochondrial DNA replication	IEA
GO:0006264	Process	Mitochondrial DNA replication	IMP	26554610
GO:0006264	Process	Mitochondrial DNA replication	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IDA	9770471
GO:0006287	Process	Base-excision repair, gap-filling	IDA	15177179
GO:0008310	Function	Single-stranded DNA 3'-5' DNA exonuclease activity	IDA	11897778, 26095671
GO:0008310	Function	Single-stranded DNA 3'-5' DNA exonuclease activity	IMP	37202477
GO:0008408	Function	3'-5' exonuclease activity	IBA
GO:0008408	Function	3'-5' exonuclease activity	IDA	28430993
GO:0008408	Function	3'-5' exonuclease activity	IMP	26554610
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	25378300
GO:0034061	Function	DNA polymerase activity	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578, 23275553
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0045004	Process	DNA replication proofreading	IDA	37202477
GO:0045004	Process	DNA replication proofreading	IMP	11897778
GO:0051575	Function	5'-deoxyribose-5-phosphate lyase activity	IDA	9770471
GO:0051575	Function	5'-deoxyribose-5-phosphate lyase activity	IEA
GO:0071897	Process	DNA biosynthetic process	IEA
GO:0140640	Function	Catalytic activity, acting on a nucleic acid	IEA

MIM	HGNC	e!Ensembl
174763	9179	ENSG00000140521

Protein

UniProt ID

P54098

Protein name

DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5' exodeoxyribonuclease) (EC 3.1.11.-) (5'-deoxyribose-phosphate lyase) (EC 4.2.99.-) (Mitochondrial DNA polymerase catalytic subunit) (PolG-alpha)

Protein function

Catalytic subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Replicates both heavy and light strands of the circular mtDNA genome using a single-stranded DNA template, RNA primers and the four deoxyr

PDB

3IKM , 4ZTU , 4ZTZ , 5C51 , 5C52 , 5C53 , 8D33 , 8D37 , 8D3R , 8D42 , 8G5I , 8G5J , 8G5K , 8G5L , 8G5M , 8G5N , 8G5O , 8G5P , 8T7E , 8UDK , 8UDL , 8V54 , 8V55 , 8V5D , 8V5R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18136	DNApol_Exo	121 → 414	DNA mitochondrial polymerase exonuclease domain	Domain
PF00476	DNA_pol_A	756 → 1185	DNA polymerase family A	Family

Sequence

MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQ
VLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPL
PDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGP
EGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLS
PADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMA
ISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVH
RLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPH
PVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYK
EDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQ
QDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTP
KLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHC
LEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALT
ARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQ
AGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAI
LPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAA
VLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQP
FAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWI
SLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCIS
RALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYL
VREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP
SNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP

Sequence length

1239

Interactions

View interactions

	KEGG
	Base excision repair

Show/Hide Causal Diseases (9)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ataxia neuropathy spectrum disorder	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	rs121918049, rs139717885, rs139562274, rs1484810169, rs113994095, rs113994097, rs1596348443, rs796052899, rs1596352895, rs121918046, rs1596358408, rs769827124, rs121918048	N/A
Fatal Mitochondrial Disease	Mitochondrial disease	rs1335880349, rs121918054, rs767708989, rs886043241, rs113994099, rs1131691575, rs1085307741, rs113994101, rs113994093, rs113994097, rs753410045, rs1567184117, rs201732356	N/A
Hereditary spastic paraplegia	Hereditary spastic paraplegia	rs144500145	N/A
Mitochondrial DNA Depletion Syndrome	Mitochondrial DNA depletion syndrome 4b	rs139590686, rs121918056, rs113994098, rs267606959, rs121918050, rs1354582663, rs201732356	N/A
mitochondrial dna depletion syndrome	Mitochondrial DNA depletion syndrome	rs201732356, rs796052888, rs775445970, rs121918056, rs113994099, rs121918050, rs775576189, rs113994093, rs1354582663, rs121918046	N/A
progressive external ophthalmoplegia with mitochondrial dna deletions	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	rs121918055, rs113994099, rs796052888, rs1567186779, rs144500145, rs1555453538, rs1596352300, rs769410130, rs121918051, rs775260762	N/A
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1	rs113994098, rs113994095, rs769410130, rs121918044, rs121918045, rs769827124, rs121918054	N/A
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	rs121918049	N/A
Seizure	Neonatal seizure	rs769827124	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Breast cancer specific mortality in estrogen receptor negative breast cancer	N/A	N/A	GWAS
Developmental Delay	global developmental delay	N/A	N/A	ClinVar
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC
Lennox-Gastaut Syndrome	lennox-gastaut syndrome	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
Polyneuropathy	polyneuropathy	N/A	N/A	ClinVar
progressive external ophthalmoplegia	Progressive external ophthalmoplegia	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
vascular dementia	Vascular dementia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (180)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acidosis Lactic	Associate	12859329, 22577219
Acute cerebral Gaucher disease	Associate	18783964
Adrenal Insufficiency	Associate	19501198
Alcoholic Neuropathy	Associate	29278894, 30843307
Alzheimer Disease	Associate	32573913
Anemia Aplastic	Associate	40406144
Anorchia	Associate	20138553
Aphasia Broca	Associate	23921535
Ataxia	Associate	16080118, 18195151, 20153822, 20185557, 21856450, 23865558, 24841123, 29278894, 30167885, 36414085
Ataxia Neuropathy Spectrum	Associate	16080118, 17088268, 18546365, 19772189, 20153822, 22616202, 23997076, 25488682, 26735972, 34600502
Atrophy	Associate	40004527
Autism Spectrum Disorder	Associate	23448099
Autistic Disorder	Associate	23448099
Azoospermia Nonobstructive	Associate	38403804
Baraitser Brett Piesowicz syndrome	Associate	23836942
Basal Ganglia Diseases	Associate	30936349
Bipolar Disorder	Stimulate	16202181
Bipolar Disorder	Associate	26241352, 27987238
Brain Diseases	Associate	20142534, 21235791, 22778364, 23324391, 30290626, 38445970
Brain Neoplasms	Associate	23836942
Breast Neoplasms	Associate	19629138, 22276120, 26468652
Calcinosis	Associate	37679327
Carcinoma Renal Cell	Associate	22249460, 23804100
Cardiomyopathies	Associate	33484326
Cataract	Associate	29358615
Cerebellar Ataxia	Associate	22249460, 29278894, 30936349, 30941926, 40445405
Cerebellar Diseases	Associate	40445405
Cerebral Small Vessel Diseases	Associate	35699875
Charcot Marie Tooth Disease	Associate	18195151, 26556829, 30843307
Charcot Marie Tooth disease Type 2H	Associate	26556829
Chemical and Drug Induced Liver Injury	Associate	21038416, 21455106, 24725338
Childhood Myocerebrohepatopathy Spectrum	Associate	18546365, 28471437
Chondrocalcinosis	Associate	23836942
Chromosome Deletion	Associate	33671400
Cockayne Syndrome	Associate	26038566
Cognition Disorders	Associate	16080118, 24841123, 32573913
Colorectal Neoplasms	Associate	35657956
Combined Oxidative Phosphorylation Deficiency 1	Associate	18487244
Congenital Abnormalities	Associate	30290626
COVID 19	Associate	36510129
Cutaneous Fistula	Associate	20685647, 24398692
Cytochrome c Oxidase Deficiency	Associate	18195151
Death	Associate	23208208, 30290626, 30509056
Deglutition Disorders	Associate	22616202
Dementia	Associate	20438629, 36414085
Depressive Disorder	Associate	29278894
Depressive Disorder Major	Associate	37834200
Developmental Disabilities	Associate	28471437, 36414085
Diabetes Mellitus	Associate	21856450, 33484326
Diabetes Mellitus Type 2	Associate	30941926
Diffuse Cerebral Sclerosis of Schilder	Associate	16263719, 18294203, 18487244, 18546365, 18783964, 19054397, 19501198, 19766516, 19772189, 20138553, 20142534, 20185557, 20685647, 20803213, 21038416 View all (10 more)
Drug Related Side Effects and Adverse Reactions	Associate	11328813, 18312466, 24725338
Drug Resistant Epilepsy	Associate	21455106, 23448099
Dysarthria	Associate	16080118, 22616202, 23250882
Dyskinesia Drug Induced	Associate	30167885, 30941926
Dyskinesias	Associate	16080118
Epilepsia Partialis Continua	Associate	20138553, 20803213, 23448099, 23921535
Epilepsies Myoclonic	Associate	23808377
Epilepsy	Associate	16080118, 20138553, 20438629, 20803213, 21856450, 23248042, 23250882, 24841123, 28074849, 28471437, 29190809, 29278894, 30941926, 33484326, 40445405
Esophageal Motility Disorders	Associate	20142534
Familial paroxysmal dystonia	Associate	33530235
Familial Primary Pulmonary Hypertension	Associate	20685647
Fractures Spontaneous	Associate	30941926
Gait Ataxia	Associate	30936349
Genetic Diseases Inborn	Associate	15258213, 16263719, 18546365, 19766516, 20685647, 28471437, 31600844, 673849
Glaucoma	Associate	29358615
Glioblastoma	Associate	25719248
Growth Disorders	Associate	28471437
Hallucinations	Associate	30941926
Head and Neck Neoplasms	Associate	34635145, 36833361
Hearing Loss	Associate	30678510
Hearing Loss Sensorineural	Associate	20438629
Heavy Chain Disease	Associate	39545794
Hepatic Encephalopathy	Associate	20142534
Hereditary Breast and Ovarian Cancer Syndrome	Associate	19629138
Hereditary Sensory and Autonomic Neuropathies	Associate	30843307
Hereditary Sensory and Motor Neuropathy	Associate	26556829
Heredodegenerative Disorders Nervous System	Associate	16080118
HIV Infections	Associate	27381400
Hunt's syndrome	Associate	18546365
Hyperkinesis	Associate	34259909
Immunologic Deficiency Syndromes	Associate	20227038
Infant Newborn Diseases	Associate	30290626
Infertility	Associate	23912752
Infertility Male	Associate	18632724
Inflammation	Associate	31843010, 36510129, 38112945
Intellectual Disability	Associate	20438629, 30678510
Keratoconus	Associate	25356504
Leukemia Myeloid Acute	Associate	39768855
Leukemia Myeloid Acute	Inhibit	40406144
Liver Diseases	Associate	27482763, 30678510
Liver Failure	Associate	19538466, 20142534, 23448099, 25065347, 25129007, 33480243
Liver Failure Acute	Associate	18294203, 21235791, 25065347, 27482763, 27483465
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	23912752
MELAS Syndrome	Associate	22577219, 23324391, 26735972, 34927673
Memory Disorders	Associate	29278894
Mental Disorders	Associate	16080118, 20438629
MERRF Syndrome	Associate	23324391
Microcephaly	Associate	21856450
Mitochondrial complex I deficiency	Associate	38445970
Mitochondrial Diseases	Associate	16685652, 17088268, 18195151, 18546365, 19501198, 19513667, 19837028, 20185557, 21235791, 21455106, 21555342, 21856450, 21967349, 22249460, 22778364 View all (40 more)
Mitochondrial Encephalomyopathies	Associate	19772189, 22616202, 33396418
Mitochondrial encephalopathy	Associate	22577219, 24841123, 33484326
Mitochondrial Myopathies	Associate	20399836, 30395865, 38432868
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	20185557, 39545794
Mobility Limitation	Associate	29278894
Mood Disorders	Associate	27987238
Mouth Diseases	Associate	23324391
Movement Disorders	Associate	23865558, 34259909
Mucocutaneous Lymph Node Syndrome	Associate	36510129
Mulibrey Nanism	Associate	18783964
Muscle Hypotonia	Associate	21856450, 28471437, 30290626
Muscle Weakness	Associate	35760101
Muscular Atrophy Spinal	Associate	30936349
Muscular Diseases	Associate	21856450, 23324391, 30936349
Muscular dystrophy congenital with central nervous system involvement	Associate	24099403
Myalgia	Associate	40004527
Myelodysplastic Syndromes	Associate	29052564
Myelodysplastic Syndromes	Inhibit	40406144
Myopathy with Giant Abnormal Mitochondria	Associate	11893792
Nakamura Osame syndrome	Associate	26556829
Necrosis	Associate	24841123
Neoplasms	Associate	23830898, 24150215, 25719248, 26468652, 32496904, 35657956
Neoplasms Germ Cell and Embryonal	Associate	18632724
Nerve Degeneration	Associate	24841123, 38445970
Nervous System Diseases	Associate	25025039, 29278894, 29358615, 30941926
Neuralgia	Associate	27020842
Neurodegenerative Diseases	Associate	18546365, 24841123, 30941926
Neurologic Manifestations	Associate	21455106, 23808377, 23865558, 28471437
Neuromuscular Diseases	Associate	20438629
Neuronal Ceroid Lipofuscinoses	Associate	22727047
Non Muscle Invasive Bladder Neoplasms	Associate	39817975
Nystagmus Pathologic	Associate	26448634
Oligospermia	Associate	23912752
Ophthalmoplegia	Associate	16685652, 19772189, 21696159, 21856450, 22616202, 22778364, 23208208, 23250882, 30678510
Ophthalmoplegia Chronic Progressive External	Associate	11897778, 15181170, 16263719, 17725985, 19772189, 20185557, 21301859, 28154168, 30936349, 30941926, 31263856, 31843010, 35289132, 37316776
Optic Atrophy	Associate	30395865
Ovarian Diseases	Associate	39595984
Pancreatitis	Associate	33480243
Parkinson Disease	Associate	20399836, 21696159, 23251356, 23804100, 24099403, 30941926, 31843010
Parkinson Disease Secondary	Associate	17725985, 20685647, 21301859, 22623900, 23251356, 23865558, 24099403, 30936349, 30941926, 31843010
Parkinsonian Disorders	Associate	20399836
pediatric multisystem inflammatory disease COVID 19 related	Associate	36510129
Peripheral Nervous System Diseases	Associate	16080118, 26556829, 30936349
Phenylketonurias	Associate	30678510
Polyneuropathies	Associate	27020842, 29278894
Post Acute COVID 19 Syndrome	Associate	38112945
Prickle1 Related Progressive Myoclonic Epilepsy with Ataxia	Associate	16080118
Primary hyperoxaluria type 2	Associate	31600844
Primary Ovarian Insufficiency	Associate	17725985, 21696159, 33538981, 39595984
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Autosomal Dominant 1	Associate	15258213, 17251196, 17725985, 18546365, 19772189, 31600844
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Autosomal Recessive	Associate	18546365
Prostatic Neoplasms	Associate	23830898
Psychomotor Disorders	Associate	20142534
Ptosis Hereditary Congenital 2	Associate	20438629
Reinjuries	Associate	32496904
Renal Insufficiency	Associate	30290626
Respiratory Insufficiency	Associate	30290626
Respiratory System Abnormalities	Associate	23152058, 30290626
Seizures	Associate	18294203, 20138553, 25065347, 29278894, 33484326, 36414085
Seminoma	Associate	18632724
Sensation Disorders	Associate	40004527
Sensory ataxic neuropathy dysarthria and ophthalmoparesis	Associate	24099403, 40004527
Sleep Initiation and Maintenance Disorders	Associate	23313956, 25488682
Spinal Muscular Atrophies of Childhood	Associate	40004527
Spinocerebellar Ataxia Autosomal Recessive 8	Associate	16080118
Spinocerebellar Ataxia with Epilepsy	Associate	19772189, 26735972
Spinocerebellar Ataxias	Associate	21455106
Spinocerebellar Degenerations	Associate	16080118, 20153822, 25488682
Status Epilepticus	Associate	18294203, 20138553, 20803213, 23448099, 30167885, 34927673
Stroke	Associate	21856450, 22577219, 23324391, 34927673, 36065636
Testicular Neoplasms	Associate	18632724, 22276120
Tooth Loss	Associate	23804100
Tremor	Associate	18195151, 23836942
Uniparental Disomy	Associate	30843307
Vacuolar Neuromyopathy	Associate	29358615
Vaginal Discharge	Associate	20138553
Vascular Diseases	Associate	22577219
Visceral myopathy familial external ophthalmoplegia	Associate	19538466, 19629138, 19667227, 19766516, 19772189, 21555342, 23714749, 24398692, 24841123, 25129007, 27592148, 30157269, 30509056
VLCAD deficiency	Associate	37156631

POLG (DNA polymerase gamma, catalytic subunit)