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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7084
Gene name	Thymidine kinase 2
Gene symbol	TK2
Synonyms (NCBI Gene)	MTDPS2MTTKPEOB3SCA31TK2-EXT
Chromosome	16
Chromosome location	16q21
Summary	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

222

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 (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004137	Function	Deoxycytidine kinase activity	IDA	9989599, 11687801
GO:0004137	Function	Deoxycytidine kinase activity	IEA
GO:0004797	Function	Thymidine kinase activity	IDA	9989599, 11687801
GO:0004797	Function	Thymidine kinase activity	IEA
GO:0004797	Function	Thymidine kinase activity	TAS	9079672
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	9989599
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
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:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019136	Function	Deoxynucleoside kinase activity	IBA
GO:0019136	Function	Deoxynucleoside kinase activity	IEA
GO:0019206	Function	Nucleoside kinase activity	TAS
GO:0043097	Process	Pyrimidine nucleoside salvage	TAS
GO:0046092	Process	Deoxycytidine metabolic process	IEA
GO:0046104	Process	Thymidine metabolic process	IEA
GO:0071897	Process	DNA biosynthetic process	IEA
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA

MIM	HGNC	e!Ensembl
188250	11831	ENSG00000166548

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

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in liver, pancreas, muscle, and brain. {ECO:0000269|PubMed:9079672}.

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial disease	Likely pathogenic; Pathogenic	rs1964523180, rs768548319, rs970983506, rs138479499, rs886039669, rs886041321, rs137854429, rs137854430, rs137854431, rs137854432, rs1567533723, rs2507184447, rs1964662122, rs281865500, rs281865486 View all (21 more)	RCV005361660 RCV005361724 RCV005356252 RCV005361816 RCV005355568 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome	Likely pathogenic; Pathogenic	rs2144497920, rs138479499, rs137854429, rs137854431, rs281865499, rs138439950, rs281865487, rs281865507, rs281865493, rs281865492, rs281865494, rs137886900, rs281865501, rs1454450104	RCV002222951 RCV002266060 RCV004526595 RCV003993743 RCV003492321 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome 2, myopathic form	Likely pathogenic; Pathogenic	rs138439950	RCV004798750	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome, myopathic form	Likely pathogenic; Pathogenic	rs1964523180, rs768548319, rs973152588, rs2144339570, rs773566302, rs138479499, rs886039669, rs1965024310, rs137854429, rs137854430, rs137854431, rs137854432, rs281865500, rs281865486, rs138439950 View all (10 more)	RCV005005959 RCV003388613 RCV005008381 RCV002246774 RCV002246775 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	Likely pathogenic; Pathogenic	rs1964523180, rs768548319, rs973152588, rs138479499, rs886039669, rs137854431, rs281865486, rs138439950, rs281865487, rs281865507, rs281865494, rs137886900, rs281865495, rs1454450104	RCV005005959 RCV004554871 RCV005008381 RCV005006210 RCV005016659 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TK2-related disorder	Pathogenic; Likely pathogenic	rs137854431, rs281865494	RCV004757106 RCV003904881	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of the musculature	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inborn mitochondrial myopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL MYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (95)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenylate Kinase Deficiency Hemolytic Anemia Due To	Hemolytic anemia	Pubtator	32904881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31803128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	39217320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	25706752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	BEFREE	29174468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	23695887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	23695887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	12940507, 21937588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	17951082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial Dysostosis	BEFREE	23913723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial dysostosis type 1	Craniofacial Dysostosis	BEFREE	23913723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	21163552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	20083405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	21593608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	12110944, 31351931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18651333, 24374964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	BEFREE	24374964		★★★★★ ★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	11984533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	BEFREE	26995359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	11984533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	21593608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	37715114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	16908738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	12110944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32638267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	29111027, 31803128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26087398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marie Cerebellar Ataxia	Marie Cerebellar Ataxia	BEFREE	21163552		★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	16645216, 22354625, 26995359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	12682338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	12493767, 23468942, 24198295, 32904881	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	18651333, 25215937, 26995359		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26087398	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)	Mitochondrial DNA Depletion Syndrome	CLINVAR_DG	11687801, 12493767, 15907288, 21937588, 22345218		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)	Mitochondrial DNA Depletion Syndrome	UNIPROT_DG	11687801, 12391347, 15639197, 15907288, 25446393		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)	Mitochondrial DNA Depletion Syndrome	GENOMICS_ENGLAND_DG	21937588, 25929793, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)	Mitochondrial DNA Depletion Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial DNA Depletion Syndrome Myopathic Form	Mitochondrial dna depletion syndrome	Pubtator	12493767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial DNA depletion syndrome, myopathic form	Mitochondrial DNA Depletion Syndrome, myopathic	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA Depletion Syndrome, Myopathic Form	Mitochondrial DNA Depletion Syndrome, myopathic	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	16645216, 24484525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	24484525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	12873860, 15907288, 17951082, 19618438, 24484525, 26995359, 29174468, 31060578, 31383553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	31060578, 33246973, 35286480, 37715114	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12682338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	23303857, 29052564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29663531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11687801, 12110944, 12493767, 16504786, 16908738, 18508266, 18819985, 22925535, 28318037, 31125140, 31408013		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	LHGDN	12682338, 18508266		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	28630220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33276480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	BEFREE	21937588		★★★★★ ★☆☆☆☆ Found in Text Mining only
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	ORPHANET_DG	21937588		★★★★★ ★☆☆☆☆ Found in Text Mining only
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	UNIPROT_DG	21937588		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	GENOMICS_ENGLAND_DG	21937588		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	31803128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	31351931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	20421844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	LHGDN	12391347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia	BEFREE	21593608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 31	Spinocerebellar ataxia	Pubtator	19878914, 30634945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 8	Spinocerebellar Ataxia	BEFREE	21593608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	25706752, 31803128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Degeneration	Spinocerebellar Degeneration	BEFREE	25706752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	BEFREE	25706752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	18021809, 19154348, 21382338, 23303857, 24484525, 31060578, 32904881, 36232299, 40098049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TK2 (thymidine kinase 2)