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TK2 (thymidine kinase 2)

Gene

7084

Thymidine kinase 2

TK2

MTDPS2, MTTK, PEOB3, SCA31, TK2-EXT

16q21

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associ

Show/Hide all(36)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137854429	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137854430	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137854431	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137854432	G>C	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs137886900	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs138439950	T>C	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs142291440	T>C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, intron variant, coding sequence variant
rs281865486	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs281865488	G>A,C	Pathogenic	Synonymous variant, missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs281865489	G>A	Likely-pathogenic, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs281865490	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865491	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs281865492	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865493	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865494	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865495	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs281865496	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs281865497	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865499	A>G,T	Pathogenic	Splice donor variant
rs281865500	CTTT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs281865501	TCT>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, inframe deletion
rs281865502	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs281865503	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs281865504	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs281865505	->CG	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs281865506	->TA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs281865507	GC>TT	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs374777494	C>A,T	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs746707855	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs747276038	T>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs748655443	A>G	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs749123392	C>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs886039669	GA>AG	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs886041321	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained, intron variant
rs886041794	T>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained, intron variant
rs1194187379	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all(222)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017549	hsa-miR-335-5p	Microarray	18185580
MIRT1425935	hsa-miR-129-3p	CLIP-seq
MIRT1425936	hsa-miR-1908	CLIP-seq
MIRT1425937	hsa-miR-19a	CLIP-seq
MIRT1425938	hsa-miR-19b	CLIP-seq
MIRT1425939	hsa-miR-2355-5p	CLIP-seq
MIRT1425940	hsa-miR-3126-5p	CLIP-seq
MIRT1425941	hsa-miR-3937	CLIP-seq
MIRT1425942	hsa-miR-3938	CLIP-seq
MIRT1425943	hsa-miR-663	CLIP-seq
MIRT1425944	hsa-let-7a	CLIP-seq
MIRT1425945	hsa-let-7b	CLIP-seq
MIRT1425946	hsa-let-7c	CLIP-seq
MIRT1425947	hsa-let-7d	CLIP-seq
MIRT1425948	hsa-let-7e	CLIP-seq
MIRT1425949	hsa-let-7f	CLIP-seq
MIRT1425950	hsa-let-7g	CLIP-seq
MIRT1425951	hsa-let-7i	CLIP-seq
MIRT1425952	hsa-miR-1224-3p	CLIP-seq
MIRT1425953	hsa-miR-1266	CLIP-seq
MIRT1425954	hsa-miR-1276	CLIP-seq
MIRT1425955	hsa-miR-139-3p	CLIP-seq
MIRT1425956	hsa-miR-15a	CLIP-seq
MIRT1425957	hsa-miR-15b	CLIP-seq
MIRT1425958	hsa-miR-16	CLIP-seq
MIRT1425959	hsa-miR-1913	CLIP-seq
MIRT1425960	hsa-miR-195	CLIP-seq
MIRT1425961	hsa-miR-214	CLIP-seq
MIRT1425962	hsa-miR-2278	CLIP-seq
MIRT1425963	hsa-miR-3117-5p	CLIP-seq
MIRT1425964	hsa-miR-3180-5p	CLIP-seq
MIRT1425965	hsa-miR-324-3p	CLIP-seq
MIRT1425966	hsa-miR-338-3p	CLIP-seq
MIRT1425967	hsa-miR-3613-3p	CLIP-seq
MIRT1425968	hsa-miR-3619-5p	CLIP-seq
MIRT1425969	hsa-miR-3664-3p	CLIP-seq
MIRT1425970	hsa-miR-3671	CLIP-seq
MIRT1425971	hsa-miR-3927	CLIP-seq
MIRT1425972	hsa-miR-424	CLIP-seq
MIRT1425973	hsa-miR-4303	CLIP-seq
MIRT1425974	hsa-miR-4311	CLIP-seq
MIRT1425975	hsa-miR-4436a	CLIP-seq
MIRT1425976	hsa-miR-4451	CLIP-seq
MIRT1425977	hsa-miR-4458	CLIP-seq
MIRT1425978	hsa-miR-4500	CLIP-seq
MIRT1425979	hsa-miR-450b-5p	CLIP-seq
MIRT1425980	hsa-miR-4518	CLIP-seq
MIRT1425981	hsa-miR-4663	CLIP-seq
MIRT1425982	hsa-miR-4690-5p	CLIP-seq
MIRT1425983	hsa-miR-4704-5p	CLIP-seq
MIRT1425984	hsa-miR-4714-3p	CLIP-seq
MIRT1425985	hsa-miR-4732-5p	CLIP-seq
MIRT1425986	hsa-miR-4733-5p	CLIP-seq
MIRT1425987	hsa-miR-4762-3p	CLIP-seq
MIRT1425988	hsa-miR-4782-5p	CLIP-seq
MIRT1425989	hsa-miR-497	CLIP-seq
MIRT1425990	hsa-miR-518a-5p	CLIP-seq
MIRT1425991	hsa-miR-520a-5p	CLIP-seq
MIRT1425992	hsa-miR-525-5p	CLIP-seq
MIRT1425993	hsa-miR-526b	CLIP-seq
MIRT1425994	hsa-miR-527	CLIP-seq
MIRT1425995	hsa-miR-539	CLIP-seq
MIRT1425996	hsa-miR-548p	CLIP-seq
MIRT1425997	hsa-miR-583	CLIP-seq
MIRT1425998	hsa-miR-605	CLIP-seq
MIRT1425999	hsa-miR-607	CLIP-seq
MIRT1426000	hsa-miR-634	CLIP-seq
MIRT1426001	hsa-miR-646	CLIP-seq
MIRT1426002	hsa-miR-761	CLIP-seq
MIRT1426003	hsa-miR-885-3p	CLIP-seq
MIRT1426004	hsa-miR-98	CLIP-seq
MIRT2127660	hsa-miR-1915	CLIP-seq
MIRT2127661	hsa-miR-371-5p	CLIP-seq
MIRT2127662	hsa-miR-371b-5p	CLIP-seq
MIRT2127663	hsa-miR-4685-5p	CLIP-seq
MIRT2127664	hsa-miR-4726-3p	CLIP-seq
MIRT2127665	hsa-miR-513c	CLIP-seq
MIRT2127666	hsa-miR-514b-5p	CLIP-seq
MIRT2349363	hsa-miR-1225-3p	CLIP-seq
MIRT2349364	hsa-miR-1233	CLIP-seq
MIRT2349365	hsa-miR-1255a	CLIP-seq
MIRT2349366	hsa-miR-1255b	CLIP-seq
MIRT2349367	hsa-miR-1257	CLIP-seq
MIRT2349368	hsa-miR-143	CLIP-seq
MIRT1425937	hsa-miR-19a	CLIP-seq
MIRT1425938	hsa-miR-19b	CLIP-seq
MIRT1425961	hsa-miR-214	CLIP-seq
MIRT2349369	hsa-miR-216a	CLIP-seq
MIRT2349370	hsa-miR-3065-5p	CLIP-seq
MIRT2349371	hsa-miR-3120-3p	CLIP-seq
MIRT2349372	hsa-miR-3158-3p	CLIP-seq
MIRT1425966	hsa-miR-338-3p	CLIP-seq
MIRT2349373	hsa-miR-342-3p	CLIP-seq
MIRT2349374	hsa-miR-3607-5p	CLIP-seq
MIRT1425968	hsa-miR-3619-5p	CLIP-seq
MIRT2349375	hsa-miR-3662	CLIP-seq
MIRT2349376	hsa-miR-3663-3p	CLIP-seq
MIRT2349377	hsa-miR-3925-3p	CLIP-seq
MIRT2349378	hsa-miR-4428	CLIP-seq
MIRT2349379	hsa-miR-4433	CLIP-seq
MIRT2349380	hsa-miR-4459	CLIP-seq
MIRT2349381	hsa-miR-4499	CLIP-seq
MIRT2349382	hsa-miR-4640-5p	CLIP-seq
MIRT2349383	hsa-miR-4653-3p	CLIP-seq
MIRT1425982	hsa-miR-4690-5p	CLIP-seq
MIRT2349384	hsa-miR-4694-3p	CLIP-seq
MIRT2349385	hsa-miR-4698	CLIP-seq
MIRT2349386	hsa-miR-4726-5p	CLIP-seq
MIRT2349387	hsa-miR-4764-5p	CLIP-seq
MIRT2349388	hsa-miR-4768-3p	CLIP-seq
MIRT2349389	hsa-miR-4770	CLIP-seq
MIRT2349390	hsa-miR-4786-5p	CLIP-seq
MIRT2349391	hsa-miR-4790-3p	CLIP-seq
MIRT2349392	hsa-miR-4792	CLIP-seq
MIRT2349393	hsa-miR-4793-5p	CLIP-seq
MIRT2349394	hsa-miR-499a-5p	CLIP-seq
MIRT2349395	hsa-miR-508-5p	CLIP-seq
MIRT1425996	hsa-miR-548p	CLIP-seq
MIRT2349396	hsa-miR-617	CLIP-seq
MIRT1426002	hsa-miR-761	CLIP-seq
MIRT2349397	hsa-miR-766	CLIP-seq
MIRT2349398	hsa-miR-769-5p	CLIP-seq
MIRT2642690	hsa-miR-1202	CLIP-seq
MIRT2349363	hsa-miR-1225-3p	CLIP-seq
MIRT2349364	hsa-miR-1233	CLIP-seq
MIRT2349365	hsa-miR-1255a	CLIP-seq
MIRT2349366	hsa-miR-1255b	CLIP-seq
MIRT2642691	hsa-miR-1291	CLIP-seq
MIRT2642692	hsa-miR-1293	CLIP-seq
MIRT2642693	hsa-miR-1299	CLIP-seq
MIRT2642694	hsa-miR-139-5p	CLIP-seq
MIRT2642695	hsa-miR-146b-3p	CLIP-seq
MIRT2642696	hsa-miR-149	CLIP-seq
MIRT2642697	hsa-miR-1825	CLIP-seq
MIRT2349369	hsa-miR-216a	CLIP-seq
MIRT2642698	hsa-miR-3064-5p	CLIP-seq
MIRT2349371	hsa-miR-3120-3p	CLIP-seq
MIRT2642699	hsa-miR-3126-3p	CLIP-seq
MIRT2642700	hsa-miR-3173-5p	CLIP-seq
MIRT2642701	hsa-miR-3194-5p	CLIP-seq
MIRT2642702	hsa-miR-335	CLIP-seq
MIRT2349373	hsa-miR-342-3p	CLIP-seq
MIRT2642703	hsa-miR-361-3p	CLIP-seq
MIRT2642704	hsa-miR-3922-5p	CLIP-seq
MIRT2349377	hsa-miR-3925-3p	CLIP-seq
MIRT2642705	hsa-miR-3972	CLIP-seq
MIRT2642706	hsa-miR-4292	CLIP-seq
MIRT2642707	hsa-miR-4483	CLIP-seq
MIRT1425979	hsa-miR-450b-5p	CLIP-seq
MIRT2642708	hsa-miR-4521	CLIP-seq
MIRT2642709	hsa-miR-4641	CLIP-seq
MIRT2349383	hsa-miR-4653-3p	CLIP-seq
MIRT2642710	hsa-miR-4659a-5p	CLIP-seq
MIRT2642711	hsa-miR-4659b-5p	CLIP-seq
MIRT2642712	hsa-miR-4696	CLIP-seq
MIRT2642713	hsa-miR-4699-5p	CLIP-seq
MIRT2642714	hsa-miR-4715-5p	CLIP-seq
MIRT2642715	hsa-miR-4722-3p	CLIP-seq
MIRT2642716	hsa-miR-4749-3p	CLIP-seq
MIRT2642717	hsa-miR-4769-3p	CLIP-seq
MIRT2349392	hsa-miR-4792	CLIP-seq
MIRT2642718	hsa-miR-4794	CLIP-seq
MIRT2642719	hsa-miR-4802-3p	CLIP-seq
MIRT2642720	hsa-miR-498	CLIP-seq
MIRT2349395	hsa-miR-508-5p	CLIP-seq
MIRT2642721	hsa-miR-571	CLIP-seq
MIRT2349396	hsa-miR-617	CLIP-seq
MIRT2642722	hsa-miR-663b	CLIP-seq
MIRT2642723	hsa-miR-668	CLIP-seq
MIRT2642724	hsa-miR-760	CLIP-seq
MIRT2642725	hsa-miR-874	CLIP-seq
MIRT2642726	hsa-miR-875-3p	CLIP-seq
MIRT1426003	hsa-miR-885-3p	CLIP-seq
MIRT2642727	hsa-miR-944	CLIP-seq
MIRT2642690	hsa-miR-1202	CLIP-seq
MIRT2349363	hsa-miR-1225-3p	CLIP-seq
MIRT2349364	hsa-miR-1233	CLIP-seq
MIRT2349365	hsa-miR-1255a	CLIP-seq
MIRT2349366	hsa-miR-1255b	CLIP-seq
MIRT2693215	hsa-miR-1286	CLIP-seq
MIRT2642691	hsa-miR-1291	CLIP-seq
MIRT2642692	hsa-miR-1293	CLIP-seq
MIRT2642694	hsa-miR-139-5p	CLIP-seq
MIRT2642695	hsa-miR-146b-3p	CLIP-seq
MIRT2642696	hsa-miR-149	CLIP-seq
MIRT2642697	hsa-miR-1825	CLIP-seq
MIRT2349369	hsa-miR-216a	CLIP-seq
MIRT2642698	hsa-miR-3064-5p	CLIP-seq
MIRT2349371	hsa-miR-3120-3p	CLIP-seq
MIRT1425940	hsa-miR-3126-5p	CLIP-seq
MIRT2642700	hsa-miR-3173-5p	CLIP-seq
MIRT2642701	hsa-miR-3194-5p	CLIP-seq
MIRT2349373	hsa-miR-342-3p	CLIP-seq
MIRT2693216	hsa-miR-34b	CLIP-seq
MIRT2642703	hsa-miR-361-3p	CLIP-seq
MIRT2642704	hsa-miR-3922-5p	CLIP-seq
MIRT2349377	hsa-miR-3925-3p	CLIP-seq
MIRT2642705	hsa-miR-3972	CLIP-seq
MIRT2642706	hsa-miR-4292	CLIP-seq
MIRT2642707	hsa-miR-4483	CLIP-seq
MIRT2642708	hsa-miR-4521	CLIP-seq
MIRT2349383	hsa-miR-4653-3p	CLIP-seq
MIRT2642710	hsa-miR-4659a-5p	CLIP-seq
MIRT2642711	hsa-miR-4659b-5p	CLIP-seq
MIRT2642713	hsa-miR-4699-5p	CLIP-seq
MIRT2642714	hsa-miR-4715-5p	CLIP-seq
MIRT2642715	hsa-miR-4722-3p	CLIP-seq
MIRT2642716	hsa-miR-4749-3p	CLIP-seq
MIRT2642717	hsa-miR-4769-3p	CLIP-seq
MIRT2349392	hsa-miR-4792	CLIP-seq
MIRT2642718	hsa-miR-4794	CLIP-seq
MIRT2642719	hsa-miR-4802-3p	CLIP-seq
MIRT2693217	hsa-miR-488	CLIP-seq
MIRT2642720	hsa-miR-498	CLIP-seq
MIRT2349395	hsa-miR-508-5p	CLIP-seq
MIRT2642721	hsa-miR-571	CLIP-seq
MIRT2349396	hsa-miR-617	CLIP-seq
MIRT2642722	hsa-miR-663b	CLIP-seq
MIRT2642723	hsa-miR-668	CLIP-seq
MIRT2642724	hsa-miR-760	CLIP-seq
MIRT2642725	hsa-miR-874	CLIP-seq
MIRT1426003	hsa-miR-885-3p	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004797	Function	Thymidine kinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006139	Process	Nucleobase-containing compound metabolic process	TAS	9079672
GO:0009157	Process	Deoxyribonucleoside monophosphate biosynthetic process	IEA
GO:0009165	Process	Nucleotide biosynthetic process	IEA
GO:0016310	Process	Phosphorylation	IEA
GO:0019136	Function	Deoxynucleoside kinase activity	IBA	21873635
GO:0019206	Function	Nucleoside kinase activity	TAS
GO:0043097	Process	Pyrimidine nucleoside salvage	TAS
GO:0071897	Process	DNA biosynthetic process	IEA

MIM	HGNC	e!Ensembl
188250	11831	ENSG00000166548

Protein

UniProt ID

O00142

Protein name

Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (2'-deoxyuridine kinase TK2) (EC 2.7.1.74) (Deoxycytidine kinase TK2) (EC 2.7.1.-) (Mt-TK)

Protein function

Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix (PubMed:11687801, PubMed:9989599). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01712	dNK	53 → 265	Deoxynucleoside kinase	Domain

Sequence

MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIA
SGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDR
HTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIV
YLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHH
MERMLELFEQNRDRILTPENRKHCP

Sequence length

265

Interactions

View interactions

	KEGG		Reactome
	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways Nucleotide metabolism		Pyrimidine salvage

Associated diseases

Show/Hide Causal Diseases (13)

Causal
Disease name	Disease term	dbSNP ID	References
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs397514444, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Developmental delay	Gross motor development 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
External ophthalmoplegia	External Ophthalmoplegia	rs1569484022
Mitochondrial dna depletion syndrome	MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)	rs121918307, rs515726185, rs121918308, rs121918309, rs2137715433, rs113994161, rs121908537, rs121908538, rs118192101, rs137854429, rs137854431, rs113994099, rs121918046, rs113994098, rs121918050, rs121918056, rs267606959, rs121909721, rs121909722, rs121909723, rs121909724, rs121913036, rs797044454, rs121913037, rs149977726, rs786205097, rs797044455, rs786205098, rs121913038, rs28931613, rs767245071, rs121913039, rs121913040, rs121913041, rs267607097, rs267607099, rs786205871, rs267607098, rs113994093, rs397507438, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs267607267, rs267607260, rs267607268, rs281865499, rs138439950, rs281865489, rs281865507, rs281865493, rs281865492, rs281865494, rs137886900, rs281865501, rs201889294, rs398123060, rs398123061, rs398123062, rs515726180, rs515726181, rs515726196, rs201732356, rs796052888, rs200440128, rs797046017, rs777604559, rs138479499, rs863224914, rs1064792855, rs1054084896, rs1064792857, rs1064792858, rs749827433, rs891107196, rs1064792860, rs1064792861, rs1064792862, rs199901350, rs1064792863, rs1064792864, rs1064792865, rs1064792866, rs1064792867, rs1064792868, rs1064792870, rs866001342, rs1064792872, rs892141220, rs1060499532, rs1060499534, rs1064792874, rs764275775, rs11479, rs1064792876, rs770277446, rs1064792877, rs1064792878, rs1064792879, rs773785934, rs1064792880, rs1064792881, rs1556486467, rs1556486029, rs1064792885, rs1064792886, rs1064792887, rs1064792888, rs1060499535, rs1064792889, rs1064792890, rs1064792891, rs1064792892, rs772037717, rs879255542, rs878853112, rs765882664, rs886041625, rs139590686, rs766160589, rs1057519447, rs375401970, rs886044113, rs749361266, rs1064793178, rs1554215766, rs751656896, rs747618415, rs1554215804, rs1554215959, rs1554215964, rs1554215986, rs1443104983, rs1411907961, rs1227524799, rs1554216735, rs750973870, rs1554218789, rs754142863, rs758395213, rs773850151, rs1554218821, rs1187832552, rs1554219474, rs775768793, rs368965675, rs1257765682, rs1394080480, rs1554221189, rs1554221191, rs964532159, rs1350566881, rs1554221258, rs1345325140, rs761902417, rs767543583, rs761974928, rs761215749, rs1554222122, rs1554222130, rs766892502, rs747536886, rs1182326570, rs1556488264, rs761665644, rs775576189, rs1354582663, rs1423840146, rs113055360, rs1553383467, rs1553383480, rs1057524366, rs1471478620, rs796052053, rs775445970, rs1011464708, rs140992482, rs1308442327, rs1369567672, rs750388794, rs1180285291, rs1572542092, rs764792655, rs1582402094, rs1584622847, rs1572543564, rs1572542511, rs200938111, rs772370243, rs1572555080, rs1582425360, rs1251044974, rs1573369925, rs1573374828, rs1582425406, rs1593479845, rs1582367960, rs1203886148, rs1573369929, rs1389068504, rs765023287, rs1587178460, rs1587186073, rs761608162, rs760629248, rs1052593047, rs972696428	21937588, 25929793, 11687801, 15639197, 12493767, 27604308, 22345218, 25446393, 15907288, 12391347
Mitochondrial dna depletion syndrome, myopathic	Mitochondrial DNA Depletion Syndrome, Myopathic Form	rs137854429, rs137854430, rs137854431, rs137854432, rs281865500, rs281865489, rs281865493, rs137886900, rs281865496, rs281865501, rs281865502, rs886039669
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Progressive external ophthalmoplegia with mitochondrial dna deletions	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3	rs111033572, rs111033573, rs111033574, rs111033575, rs111033576, rs111033577, rs28937887, rs111033579, rs80356543, rs267606682, rs104894632, rs121918310, rs104893631, rs137854431, rs113994099, rs113994095, rs121918044, rs121918045, rs113994098, rs121918051, rs121918054, rs121918055, rs104893873, rs104893874, rs104893876, rs28999114, rs515726199, rs515726201, rs137886900, rs281865495, rs397514659, rs1568079613, rs796052888, rs144500145, rs769410130, rs863223949, rs863224209, rs763615602, rs762550967, rs879255617, rs769827124, rs766294940, rs373442996, rs1057517675, rs1554887097, rs1554887213, rs200944917, rs376902371, rs1555453538, rs1567186779, rs758026634, rs1597981046, rs1596352300, rs775260762	21937588
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962

Show/Hide Unknown Diseases (15)

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Generalized amyotrophy
Bulbar palsy	Bulbar palsy
Cerebellar atrophy	Cerebellar atrophy
Cerebral atrophy	Cerebral atrophy
Dysarthria	Dysarthria
Dyschromatopsia	Dyschromatopsia
Dysphagia	Deglutition Disorders
Facial paralysis	Facial paralysis
Impaired cognition	Impaired cognition
Mental depression	Depressive disorder	rs587778876, rs587778877
Motor delay	Clumsiness - motor delay
Optic neuritis	Optic Neuritis
Progressive external ophthalmoplegia	Chronic progressive external ophthalmoplegia, Autosomal recessive progressive external ophthalmoplegia	rs515726194, rs387906891, rs387906892, rs1556423295, rs2072267
Ptosis	Blepharoptosis, Ptosis	rs139920573
Respiratory failure	Respiratory Failure

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