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	1716
Gene name	Deoxyguanosine kinase
Gene symbol	DGUOK
Synonyms (NCBI Gene)	MTDPS3NCPHNCPH1PEOB4dGK
Chromosome	2
Chromosome location	2p13.1
Summary	In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible fo

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74874677	A>G	Benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs104893630	C>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs104893631	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs104893632	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs115206553	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, non coding transcript variant, synonymous variant, coding sequence variant
rs140307681	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs144181978	T>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs147551003	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs150678946	G>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs375686551	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs536746349	C>G	Pathogenic, pathogenic-likely-pathogenic	Intron variant
rs587780587	T>C	Likely-pathogenic	Intron variant, missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs748597500	G>A	Pathogenic	Synonymous variant, intron variant, coding sequence variant, non coding transcript variant
rs762550967	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs763615602	A>G	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs770950831	A>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs775871024	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, synonymous variant, intron variant, coding sequence variant
rs863223948	G>C,T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs863223949	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs879255617	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant, non coding transcript variant
rs886037613	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs886037615	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1057524864	G>A	Pathogenic	Splice donor variant, intron variant
rs1204316787	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs1553401827	T>A	Likely-pathogenic	Splice donor variant, intron variant
rs1553403687	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1558650352	AA>T	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1573582059	T>G	Likely-pathogenic	Intron variant, splice donor variant

Show/Hide all (40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438495	hsa-miR-297	Luciferase reporter assay	24158111
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT438157	hsa-miR-34a-5p	Luciferase reporter assay	24147106
MIRT934327	hsa-miR-1273g	CLIP-seq
MIRT934328	hsa-miR-3689a-3p	CLIP-seq
MIRT934329	hsa-miR-3689c	CLIP-seq
MIRT934330	hsa-miR-4267	CLIP-seq
MIRT934331	hsa-miR-4270	CLIP-seq
MIRT934332	hsa-miR-4293	CLIP-seq
MIRT934333	hsa-miR-4425	CLIP-seq
MIRT934334	hsa-miR-4441	CLIP-seq
MIRT934335	hsa-miR-4685-5p	CLIP-seq
MIRT934336	hsa-miR-495	CLIP-seq
MIRT934337	hsa-miR-526b	CLIP-seq
MIRT934338	hsa-miR-759	CLIP-seq
MIRT934339	hsa-miR-876-3p	CLIP-seq
MIRT934340	hsa-miR-1305	CLIP-seq
MIRT934341	hsa-miR-3977	CLIP-seq
MIRT934342	hsa-miR-4470	CLIP-seq
MIRT934343	hsa-miR-4698	CLIP-seq
MIRT934344	hsa-miR-570	CLIP-seq
MIRT934345	hsa-miR-607	CLIP-seq
MIRT934338	hsa-miR-759	CLIP-seq
MIRT934331	hsa-miR-4270	CLIP-seq
MIRT934332	hsa-miR-4293	CLIP-seq
MIRT934334	hsa-miR-4441	CLIP-seq
MIRT2211945	hsa-miR-4539	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004136	Function	Deoxyadenosine kinase activity	IEA
GO:0004138	Function	Deoxyguanosine kinase activity	IBA
GO:0004138	Function	Deoxyguanosine kinase activity	IDA	8706825
GO:0004138	Function	Deoxyguanosine kinase activity	IEA
GO:0004138	Function	Deoxyguanosine kinase activity	TAS	8692979
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	19221117
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8692979
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0008617	Process	Guanosine metabolic process	TAS	8692979
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019136	Function	Deoxynucleoside kinase activity	IEA
GO:0042775	Process	Mitochondrial ATP synthesis coupled electron transport	IEA
GO:0046070	Process	DGTP metabolic process	IEA
GO:0046122	Process	Purine deoxyribonucleoside metabolic process	IDA	8706825
GO:0106383	Process	DAMP salvage	IDA	19221117
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA

MIM	HGNC	e!Ensembl
601465	2858	ENSG00000114956

Q16854

Protein name

Deoxyguanosine kinase, mitochondrial (EC 2.7.1.113) (Deoxyadenosine kinase, mitochondrial) (EC 2.7.1.76)

Protein function

Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:11687801, PubMed:17073823, PubMed:23043144, PubMed:8692979, PubMed:8706825). In non-replicating cells, where cyt

PDB

2OCP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01712	dNK	41 → 275	Deoxynucleoside kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues. {ECO:0000269|PubMed:8706825}.

Sequence

MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTK
TYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLK
VQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEF
ASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFE
ALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL

Sequence length

277

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism		Purine 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
DGUOK-related disorder	Pathogenic; Likely pathogenic	rs748597500, rs763706988, rs104893632, rs150678946, rs2467050151, rs1204316787, rs770950831	RCV004528983 RCV004528095 RCV004540991 RCV003930119 RCV004529633 RCV005898544 RCV004751686 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs748597500	RCV005893492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic; Likely pathogenic	rs940941896, rs587780587, rs528587600, rs748597500, rs863223949, rs886037613, rs104893630, rs763706988, rs886037615, rs104893631, rs104893632, rs104893633, rs763615602, rs886037846, rs150678946 View all (11 more)	RCV005023254 RCV000122730 RCV004587246 RCV000763090 RCV000239539 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Portal hypertension, noncirrhotic	Pathogenic; Likely pathogenic	rs748597500, rs763615602	RCV000763090 RCV000239586	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Portal hypertension, noncirrhotic, 1	Pathogenic; Likely pathogenic	rs940941896, rs528587600, rs748597500, rs763706988, rs104893632, rs104893633, rs763615602, rs1408950500, rs140307681	RCV005023254 RCV005023417 RCV005025317 RCV005025033 RCV004795384 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	Pathogenic; Likely pathogenic	rs940941896, rs528587600, rs748597500, rs863223949, rs763706988, rs104893631, rs104893632, rs104893633, rs763615602, rs762550967, rs879255617, rs1408950500, rs140307681	RCV005023254 RCV005023417 RCV000763090 RCV000239503 RCV005025033 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

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.
CEREBRAL ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEOXYGUANOSINE KINASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PORTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY IMPAIRMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial DNA depletion syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 3	—	CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (103)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	11896543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31633874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	Multiple Mitochondrial DNA Deletion Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	17452231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25311278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31481522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11896543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	17538929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	24321534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	12940507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15150663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23043144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28488794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28218473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	38027095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cruveilhier-Baumgarten Syndrome	Cruveilhier-Baumgarten Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deoxyguanosine Kinase Deficiency	Deoxyguanosine Kinase Deficiency	BEFREE	15887277, 19394258, 23141463		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deoxyguanosine Kinase Deficiency	Deoxyguanosine kinase deficiency	Pubtator	21107780	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deoxyguanosine Kinase Deficiency	Deoxyguanosine Kinase Deficiency	CTD_human_DG	26342080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deoxyguanosine Kinase Deficiency	Deoxyguanosine kinase deficiency	Pubtator	32703289	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	12110944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gamma-cystathionase deficiency	Gamma-Cystathionase Deficiency	BEFREE	15887277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11896543, 26252632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	22602837, 28493820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	31664948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	21107780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	21107780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31633874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29775790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	21107780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	21107780, 34026460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11896543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb-girdle muscle atrophy	Limb-girdle muscle atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15150663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27482763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	12110944, 21107780, 21478040, 22602837, 24321534, 26874653, 30404003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	21107780, 34026460, 38027095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	22602837, 27482763, 27483465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	22602837, 27483465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31633874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26420856, 9614068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28488794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28493820		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26252632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	22622127		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27483465	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 3	Mitochondrial DNA Depletion Syndrome	GENOMICS_ENGLAND_DG	12205643, 25655951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 3	Mitochondrial DNA Depletion Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)	Mitochondrial DNA Depletion Syndrome, hepatocerebral	CLINVAR_DG	11687800, 9175742		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)	Mitochondrial DNA Depletion Syndrome, hepatocerebral	UNIPROT_DG	12205643, 15639197		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)	Mitochondrial DNA Depletion Syndrome, hepatocerebral	GENOMICS_ENGLAND_DG	15883261, 17538929, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)	Mitochondrial DNA Depletion Syndrome, hepatocerebral	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Mitochondrial DNA Depletion Syndrome, hepatocerebral	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	23043144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	16263314, 19394258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	23043144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19265691, 29052564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	12110944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31633874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	23043144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	26874653, 29465431, 29775790		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Portal Hypertension	Portal Hypertension	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Portal Hypertension	Portal Hypertension	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION, NONCIRRHOTIC	Portal Hypertension	GENOMICS_ENGLAND_DG	15883261, 26874653		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PORTAL HYPERTENSION, NONCIRRHOTIC	Portal Hypertension	UNIPROT_DG	17073823, 26874653		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PORTAL HYPERTENSION, NONCIRRHOTIC	Portal Hypertension	ORPHANET_DG	26874653		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PORTAL HYPERTENSION, NONCIRRHOTIC	Portal Hypertension	CLINVAR_DG	26874653		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	UNIPROT_DG	23043144		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	ORPHANET_DG	23043144		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	23043144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rotary Nystagmus	Rotary nystagmus	BEFREE	28493820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	14623087, 17073823, 19265691, 21107780, 22011815, 22137549, 23043144, 26342080, 30509056, 31664948, 34026460, 38027095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DGUOK (deoxyguanosine kinase)