DGUOK - deoxyguanosine kinase Gene

Also Known as dGK; NCPH; NCPH1; PEOB4; MTDPS3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1716

About DGUOK

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:73,926,880-73,958,946 (from NCBI)

This gene has 8 transcripts (splice variants), 193 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 20.4), lymph node (RPKM 18.7) and 25 other tissues.

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 for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

DGUOK Products (7)

mRNA Protein Name
NM_001318859.2 NP_001305788.1 deoxyguanosine kinase, mitochondrial isoform c precursor
NM_001318860.2 NP_001305789.1 deoxyguanosine kinase, mitochondrial isoform d
NM_001318861.2 NP_001305790.1 deoxyguanosine kinase, mitochondrial isoform d
NM_001318862.2 NP_001305791.1 deoxyguanosine kinase, mitochondrial isoform e
NM_001318863.2 NP_001305792.1 deoxyguanosine kinase, mitochondrial isoform e
NM_080916.3 NP_550438.1 deoxyguanosine kinase, mitochondrial isoform a precursor
NM_080918.3 NP_550440.1 deoxyguanosine kinase, mitochondrial isoform b precursor
Molecular Function GO Annotation Evidence References Source
enables deoxyguanosine kinase activity IDA
IDA: Inferred from direct assay
8706825 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
Biological Process GO Annotation Evidence References Source
involved in dAMP salvage IDA
IDA: Inferred from direct assay
19221117 GOA
involved in purine deoxyribonucleoside metabolic process IDA
IDA: Inferred from direct assay
8706825 GOA
Cellular Component GO Annotation Evidence References Source
is active in mitochondrion IDA
IDA: Inferred from direct assay
19221117 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DGUOK Protein Structure

dNK

dNK: Deoxynucleoside kinase (110 - 266)

  • 0
  • 100
  • 200
  • 277 a.a.
Protein Preferred Names Protein Names

deoxyguanosine kinase, mitochondrial

  • deoxyadenosine kinase, mitochondrial

DGUOK Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DGUOK Q16854 DCK Homo sapiens P27707 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mitochondrial Dna Depletion Syndrome 3
  • Deoxyguanosine Kinase Deficiency

  • Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

  • MTDPS3

  • Dguok Deficiency

  • Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

  • Dguok-Related Mitochondrial Dna Depletion Syndrome

  • Hepatocerebral Mitochondrial Dna Depletion Syndrome

  • Mtdna Depletion Syndrome, Hepatocerebral Form

  • Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency

  • Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive

  • Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type

  • Mitochondrial Dna Depletion Syndrome , Type 3

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
  • Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency

  • PEOB4

  • Progressive External Ophthalmoplegia, Autosomal Recessive 4

  • Adult-Onset Multiple Mtdna Deletion Syndrome Due To Dguok Deficiency

  • Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4

  • Autosomal Recessive Progressive External Ophthalmoplegia 4

Portal Hypertension, Noncirrhotic, 1
  • Portal Hypertension, Noncirrhotic

  • NCPH1

  • Portal Hypertension, Non-Cirrhotic

  • NCPH

Mitochondrial Dna Depletion Syndrome
  • Mtdna Depletion Syndrome

Cystathioninuria
  • Cystathionase Deficiency

  • Gamma-Cystathionase Deficiency

  • Cystathione Gamma-Lyase Deficiency Syndrome

  • Cystathionine Gamma-Lyase Deficiency Syndrome

  • CSTNU

Portal Hypertension
  • Hypertension, Portal

  • Hypertension Portal

  • Pht - [Portal Hypertension]

  • Portal Htn

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

Mitochondrial Dna Depletion Syndrome 4a
  • Alpers Syndrome

  • Alpers-Huttenlocher Syndrome

  • Alpers Progressive Infantile Poliodystrophy

  • Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

  • Alpers Disease

  • Progressive Sclerosing Poliodystrophy

  • Pndc

  • Diffuse Cerebral Sclerosis Of Schilder

  • MTDPS4A

  • Neuronal Degeneration Of Childhood With Liver Disease, Progressive

  • Alper'S Syndrome

  • Alpers' Disease Or Gray-Matter Degeneration

  • Diffuse Cerebral Degeneration In Infancy

  • Infantile Poliodystrophy

  • Poliodystrophia Cerebri Progressiva

  • Progressive Cerebral Poliodystrophy

  • Alpers' Disease

  • Alpers Progressive Sclerosing Poliodystrophy

  • Progressive Neuronal Degeneration Of Childhood With Liver Disease

  • Ahs

  • Mitochondrial Dna Depletion Syndrome 4a Alpers Type

  • Neuronal Degeneration Of Childhood With Liver Disease Progressive

Mitochondrial Dna Depletion Syndrome 6
  • Navajo Neurohepatopathy

  • Navajo Neuropathy

  • MTDPS6

  • Nnh

  • Nn

  • Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

  • Navajo Familial Neurogenic Arthropathy

  • Mpv17-Associated Hepatocerebral Mds

  • Mitochondrial Dna Depletion 6 Hepatocerebral Type

  • Mitochondrial Dna Depletion Syndrome , Type 6

Mild Cognitive Impairment
Mitochondrial Dna Depletion Syndrome 2
  • Mitochondrial Dna Depletion Syndrome, Myopathic Form

  • MTDPS2

  • Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

  • Mitochondrial Dna Depletion Myopathy, Tk2-Related

  • Tk2-Related Mitochondrial Dna Depletion Myopathy

  • Mtdna Depletion Syndrome, Myopathic Form

  • Mitochondrial Dna Depletion Myopathy Tk2-Related

  • Mitochondrial Dna Depletion Syndrome 2 Myopathic Type

  • Myopathic Mitochondrial Dna Depletion Syndrome

  • Mitochondrial Dna Depletion Syndrome, Type 2

Charcot-Marie-Tooth Disease, Axonal, Type 2ee
  • CMT2EE

  • Charcot-Marie-Tooth Neuropathy, Type 2ee

  • Charcot-Marie-Tooth Disease Type 2ee

  • Charcot-Marie-Tooth Disease, Axonal, 2ee

Mitochondrial Metabolism Disease
  • Abnormality Of Mitochondrial Metabolism

  • Mitochondrial Diseases

Myopathy
  • Muscular Diseases

  • Myopathies

Kearns-Sayre Syndrome
  • Ophthalmoplegia

  • Mitochondrial Cytopathy

  • KSS

  • Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

  • Oculocraniosomatic Syndrome

  • Chronic Progressive External Ophthalmoplegia With Myopathy

  • Cpeo With Myopathy

  • Total Ophthalmoplegia

  • Ophthalmoplegia-Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

  • Cpeo With Ragged-Red Fibers

  • Oculomotor Paralysis

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

  • Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

  • Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

  • Cpeo With Ragged Red Fibers

  • Ophthalmoplegia Plus Syndrome

  • Ophthalmoplegia, Progressive External, With Ragged Red Fibers

  • Kearns-Sayre Mitochondrial Cytopathy

  • Mitochondrial Myopathies

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
  • PEOA4

  • Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4

  • Chronic Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Dominant 4

  • Autosomal Dominant Progressive External Ophthalmoplegia 4

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Dominant 4

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4

  • Kearns-Sayre Syndrome

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
  • SANDO

  • Mitochondrial Recessive Ataxia Syndrome

  • Spinocerebellar Ataxia With Epilepsy

  • Epilepsy, Progressive Myoclonic 5

  • Epm5

  • Miras

  • SCAE

  • Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive

  • Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions

  • Progressive Myoclonic Epilepsy Type 5

  • Pme Type 5

  • Progressive Myoclonus Epilepsy Type 5

  • Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome

  • Recessive Mitochondrial Ataxia Syndrome

  • Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis

  • Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome

  • Mscae

  • Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive

  • Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy

  • Epilepsy, Progressive Myoclonic, 5

  • Ataxia Neuropathy Spectrum

Chronic Progressive External Ophthalmoplegia
  • Progressive External Ophthalmoplegia

  • Cpeo

  • Peo

  • Ophthalmoplegia, Chronic Progressive External

  • Ophthalmoplegia, External, Progressive, Chronic

  • Graefe Disease

  • Peo - [Progressive External Ophthalmoplegia]

  • Ophthalmoplegia Plus Syndrome

Mitochondrial Dna Depletion Syndrome 7
  • Ohaha Syndrome

  • Infantile Onset Spinocerebellar Ataxia

  • Iosca

  • Infantile-Onset Spinocerebellar Ataxia

  • Spinocerebellar Ataxia 8

  • MTDPS7

  • Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis

  • Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

  • Sca8

  • Spinocerebellar Ataxia Infantile With Sensory Neuropathy

  • Spinocerebellar Ataxia, Infantile-Onset

  • Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis

  • Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy

  • Spinocerebellar Ataxia 8, Formerly

  • Sca8, Formerly

  • Iosca, Mitochondrial Dna Depletion Syndrome 7

  • Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis

  • Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

  • Mtdna Depletion Syndrome, Hepatocerebrorenal Form

  • Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

  • Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis

  • Pure Spinocerebellar Ataxia Japanese Type

  • Sca4 Pure Japanese Type

  • Spinocerebellar Ataxia Infantile-Onset

  • Mitochondrial Dna Depletion Syndrome , Type 7

Pearson Marrow-Pancreas Syndrome
  • Pearson Syndrome

  • Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction

  • Pearson'S Marrow/Pancreas Syndrome

  • Pearson'S Syndrome

  • Pearson'S Marrow-Pancreas Syndrome

Mitochondrial Dna Depletion Syndrome 4b
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

  • Mngie Syndrome

  • Thymidine Phosphorylase Deficiency

  • MTDPS4B

  • Mitochondrial Neurogastrointestinal Encephalopathy Disease

  • Mngie

  • Myoneurogastrointestinal Encephalopathy Syndrome

  • Ogimd

  • Oculogastrointestinal Muscular Dystrophy

  • Polip

  • Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

  • Mngie, Polg-Related

  • Mepop

  • Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

  • Mngie Disease

  • Mitochondrial Dna Depletion Syndrome 4b Mngie Type

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

  • Mngie Polg-Related

  • Mitochondrial Dna Depletion Syndrome, Type 4b

  • Visceral Myopathy Familial External Ophthalmoplegia

Gracile Syndrome
  • Finnish Lethal Neonatal Metabolic Syndrome

  • Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death

  • Flnms

  • Fellman Syndrome

  • Fellman Disease

  • Finnish Lactic Acidosis With Hepatic Hemosiderosis

  • Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

  • Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

  • Lactic Acidosis, Finnish, With Hepatic Hemosiderosis

  • Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death

  • GRACILE

Mitochondrial Dna Depletion Syndrome 13
  • MTDPS13

  • Fbxl4 Deficiency

  • Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome

  • Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type

  • Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies

  • Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies

  • Fbxl4-Related Early-Onset Mitochondrial Encephalopathy

  • Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type

  • Bxl4-Related Early-Onset Mitochondrial Encephalopathy

  • Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13

  • Fbxl4-Related Early Onset Mitochondrial Encephalopathy

  • Mitochondrial Dna Depletion Syndrome, Type 13

Motor Peripheral Neuropathy
  • Motor Neuritis

  • Peripheral Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hsmn

  • Hsmn - Hereditary Sensory And Motor Neuropathy

  • Neuropathic Muscular Atrophy

  • Hereditary Sensory And Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathies

Encephalopathy, Ethylmalonic
  • Ethylmalonic Encephalopathy

  • EE

  • Epema Syndrome

  • Encephalopathy, Petechiae, And Ethylmalonic Aciduria

  • Ethe1 Deficiency

  • Eme

  • Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Citrullinemia, Type Ii, Adult-Onset
  • Citrin Deficiency

  • CTLN2

  • Citrullinemia Type Ii

  • Adult-Onset Citrullinemia Type 2

  • Adult-Onset Type Ii Citrullinemia

  • Citrullinemia, Adult-Onset Type Ii

  • Adult-Onset Citrin Deficiency

  • Adult-Onset Citrullinemia Type Ii

  • Citrullinemia Type 2

  • Citrullinemia 2

  • Citrullinemia, Type Ii

Tyrosinemia
  • Hypertyrosinemia

  • Tyrosinemias

  • Hereditary Tyrosinemia

  • Hypertyrosinaemia

  • Tyrosinaemia

  • Hereditary Hypertyrosinemia

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
  • Megdel Syndrome

  • MEGDEL

  • Mgca6

  • 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome

  • Megdhel

  • 3-Methylglutaconic Aciduria, Type Vi

  • Serac1 Defect

  • 3-Methylglutaconic Aciduria Type 6

  • 3-Mgca Type Iv

  • 3-Mgca-4

  • 3-Methylglutaconic Aciduria Type Vi

  • 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome

  • Megdhel Syndrome

  • 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

Mitochondrial Complex I Deficiency, Nuclear Type 20
  • Acyl-Coa Dehydrogenase 9 Deficiency

  • Acad9 Deficiency

  • MC1DN20

  • Mitochondrial Complex I Deficiency Due To Acad9 Deficiency

  • Nuclear Type Mitochondrial Complex I Deficiency 20

  • Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of

  • Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency

  • Deficiency Of Acyl-Coa Dehydrogenase Family Member 9

  • Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Sengers Syndrome
  • Mitochondrial Dna Depletion Syndrome 10

  • Cardiomyopathy And Cataract

  • Cataract And Cardiomyopathy

  • MTDPS10

  • Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

  • Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10

  • Senger Syndrome

Ocular Motility Disease
  • Ocular Motility Disorders

  • Abnormality Of Eye Movement

  • Disorder Of Eye Movements

  • Eye Movement Disorder

  • Eye Movement Disorders

Lesch-Nyhan Syndrome
  • Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • LNS

  • Hprt Deficiency

  • Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

  • X-Linked Hyperuricemia

  • Choreoathetosis Self-Mutilation Syndrome

  • Hprt1 Deficiency

  • Hprt Deficiency, Complete

  • Deficiency Of Imp Pyrophosphorylase

  • Hgprt Deficiency

  • Lesch-Nyhan Disease

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

  • Hg-Prt Deficiency

  • Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

  • Lesch - Nyhan Syndrome

  • Hprt1 Disorders

  • Lesch Nyhan Syndrome

  • Complete Hprt Deficiency Complete

  • Lesch Nyhan Disease

  • Complete Hprt Deficiency

  • Deficiency Of Guanine Phosphoribosyltransferase

  • Deficiency Of Hypoxanthine Phosphoribosyltransferase

  • Hypoxanthine Phosphoribosyltransferase Deficiency

  • Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

  • Juvenile Hyperuricemia Syndrome

  • Lnd

  • Primary Hyperuricemia Syndrome

  • Total Hprt Deficiency

  • Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

  • X-Linked Primary Hyperuricemia

  • X-Linked Uric Aciduria Enzyme Defect

  • Hprt Complete Deficiency

  • Hprt Deficiency Grade Iv

  • Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

  • Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

  • Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Spinal Muscular Atrophy
  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]

Mitochondrial Encephalomyopathy
  • Mitochondrial Encephalomyopathies

  • Encephalomyopathy, Mitochondrial

Leukemia, Chronic Lymphocytic
  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Lactic Acidosis
  • Acidosis, Lactic

  • Acidosis Lactic

Myoclonic Epilepsy Associated With Ragged-Red Fibers
  • Merrf Syndrome

  • MERRF

  • Fukuhara Syndrome

  • Myoclonic Epilepsy Associated With Ragged Red Fibers

  • Myoencephalopathy Ragged-Red Fiber Disease

  • Myoclonic Epilepsy - Ragged Red Fibers

  • Myoclonus Epilepsy And Ragged Red Fibers

  • Myoclonus With Epilepsy And With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged-Red Fibers

  • Fukuhara Disease

  • Myoclonus Epilepsy Associated With Ragged-Red Fibres

  • Myoclonus With Epilepsy With Ragged Red Fibers

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus DGUOK MGD MGI:1351602
Felis catus DGUOK VGNC VGNC:61465
Bos taurus DGUOK VGNC VGNC:28032
Rattus norvegicus DGUOK RGD RGD:1304799
Macaca mulatta DGUOK VGNC VGNC:71790
Canis familiaris DGUOK VGNC VGNC:39925
Others DGUOK NCBI