Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0751651 (mitochondrial disease)
1,844 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds) .

Concepts found in the documents ranked by [ Frequency | Pointwise Mutual Information | Symmetric Conditional Probability ] .
Human Gene/Protein
METT11D1 14.1
BOLA3 protein 14.1
C1orf31 14.1
NUCM 14.1
CCDC44 14.1
Succinate-CoA ligase, ADP-forming, beta subunit 14.1
sideroflexin 4 14.1
EARS2 protein 14.1
ATP6A 14.1
PRO1853 14.1
TK2 protein 14.1
C2orf64 14.1
C20orf7 13.1
ATP5SL 13.1
SFRS8 13.1
EARS2 12.9
CHCHD1 12.5
MRPS2 12.5
GFM1 12.5
mitochondrial ribosomal protein S23 12.5
MTND6 12.5
F-box and leucine-rich repeat protein 4 12.5
MTND1 12.3
YARS2 12.3
pyruvate carboxylase, mitochondrial 12.1
TTC19 protein 12.1
MTND3 12.1
MRPS28 12.1
transmembrane protein 65 12.1
complex I assembly factor 11.9
MRPS22 11.9
COQ4 11.8
TTC19 11.8
MTATP6 11.8
tryptophan-tRNA ligase 11.8
PMPCA 11.8
C10orf2 11.8
polg 11.8
FBXL4 11.7
NDUFAF1 11.6
FOXRED1 11.6
ACAD9 11.6
MERRF 11.5
POLG protein 11.5
LYRM7 11.5
COX6A 11.5
GALNT9 11.5
MRPP1 11.5
ACN9 11.3
nucleotide binding protein-like 11.3
ATP12 11.3
GPR172B 11.3
acyl-CoA dehydrogenase 9 11.3
SURF1 11.3
POLG 11.2
FARS2 11.2
COQ6 11.2
ADCK3 11.2
TRIT1 11.2
MTND4 11.2
NDUFA8 11.2
COQ9 11.1
NIPSNAP1 11.1
ATAD3C 11.1
NDUFA7 11.1
Mitochondrial DNA polymerase gamma 11.1
GK 2 11.1
BCS1L 11.1
SCAF1 11.1
PARS2 11.1
CABC1 11.1
PDSS2 11.0
MT-ND5 11.0
SURF-1 11.0
MELAS 11.0
TMEM70 10.9
ATPIF1 10.9
SLC25A42 10.9
GTPBP3 10.9
MSTO1 10.9
more...
Disease
mitochondrial disease 14.1
Complex III deficiency 12.3
Metabolic cardiomyopathy 12.1
Disorders of mitochondrial metabolism 12.1
SCAE 12.1
Complex I deficiency 12.0
Idiopathic growth hormone deficiency 11.8
CMTX4 11.8
mental developmental delay 11.8
Pearson's syndrome 11.7
Alpers 11.6
Chronic progressive external ophthalmoplegia 11.6
MERRF 11.5
MELAS 11.4
ATP synthase deficiency 11.4
MELAS 11.3
mitochondrial encephalomyopathy 11.2
MEHMO 11.1
Cytochrome c oxidase deficiency 11.1
MILS 11.0
Leber's hereditary optic neuropathy 11.0
Cone dystrophy 10.9
Leigh syndrome 10.8
mitochondrial myopathy 10.7
Kearns-Sayre syndrome 10.6
Mitochondrial neurogastrointestinal encephalopathy 10.5
MNGIE 10.4
floppy baby syndrome 10.4
Multiple symmetrical lipomatosis 10.2
FRDA 10.1
3-Methylglutaconic aciduria 10.0
Mitochondrial DNA depletion 9.9
DFNA4 9.9
Barth syndrome 9.8
lactic acidosis 9.7
PDH deficiency 9.6
Fazio-Londe 9.6
myoclonus epilepsy 9.5
SPG7 9.3
Epilepsia partialis continua 9.3
Basal ganglia calcification 9.2
hyperlysinemia 9.1
encephalomyelopathy 9.0
sideroblastic anemia 8.9
cholangiolitis 8.8
Brown-Vialetto-Van Laere syndrome 8.8
3p- syndrome 8.8
basal ganglia disease 8.8
Cortical blindness 8.6
Alternating hemiplegia of childhood 8.6
Wiedemann-Rautenstrauch syndrome 8.6
FXTAS 8.6
myofasciitis 8.5
Dercum's disease 8.3
Pontocerebellar hypoplasia 8.3
Conduction disorders 8.2
Wolcott-Rallison syndrome 8.2
hereditary chorea 8.1
Kniest dysplasia 8.0
abdominal migraine 8.0
anarthria 7.9
Friedreich's ataxia 7.8
optic atrophy 7.8
Optic neuropathy 7.8
Wolfram syndrome 7.8
ARTS 7.8
cardiofaciocutaneous syndrome 7.7
hereditary ataxia 7.7
Reye 7.6
primary disorders 7.6
myopathy 7.6
leukodystrophy 7.5
Hypereosinophilia 7.5
hyperprolinemia 7.5
Autoimmune encephalitis 7.5
eye movement disorder 7.3
OPA1 7.3
Ohtahara syndrome 7.2
VATER association 7.2
leukoencephalopathy 7.2
more...
Symptom
Ophthalmoparesis 11.3
Sensory ataxia 11.0
External ophthalmoplegia 10.3
benign congenital hypotonia 9.9
ophthalmoplegia 9.2
Ataxic 8.9
Cold intolerance 8.0
Exercise intolerance 7.2
hypotonia 7.2
muscle cramps 6.6
cerebellar ataxia 6.5
impaired motor coordination 6.5
dysarthria 6.4
ataxia 6.3
myoclonus 6.2
hyperemesis 5.8
dystonia 5.1
weakness 5.1
clumsiness 5.0
ataxic gait 5.0
ketonuria 5.0
myalgia 4.7
tonic-clonic seizure 4.7
seizures 4.7
partial seizure 4.6
spasticity 4.6
hepatomegaly 4.4
paraparesis 4.2
neurological disability 4.2
DNA marker 4.2
dysesthesia 4.2
lethargy 4.2
blurred vision 4.1
hyperoxia 4.0
hypersomnia 4.0
chorea 4.0
Postoperative pain 4.0
abnormal gait 3.9
muscle stiffness 3.8
hypertonia 3.8
fasciculation 3.7
fatigue 3.5
hypocapnia 3.3
incoordination 3.3
hip pain 3.3
cachexia 3.2
hemiplegia 3.1
sleepiness 3.0
polydipsia 3.0
tremor 2.9
bradykinesia 2.9
paresthesia 2.8
pallor 2.8
asthenia 2.7
snoring 2.6
paresis 2.6
polyuria 2.5
constipation 2.3
headache 2.3
vomiting 2.3
neck pain 2.1
hepatosplenomegaly 2.0
syncope 1.9
nausea and vomiting 1.8
numbness 1.7
diarrhea 1.7
anesthesia 1.7
ENT 1.7
dyspnea 1.6
starvation 1.5
exhaustion 1.3
spasm 1.2
abdominal pain 1.1
hypercapnia 1.1
analgesia 0.9
collapse 0.9
dizziness 0.8
respiratory distress 0.8
thinning 0.6
nausea 0.6
more...
Drug
Idebenone 9.1
ISP 6.2
Riboflavin 6.1
Sodium valproate 5.8
Caspofungin 5.6
EPI 5.6
Parkin 5.2
Parkin 5.2
Clofibrate 4.9
Kainic acid 4.7
OTC 4.6
NADH 4.5
Rosiglitazone 4.4
Alliance 4.3
ROS 4.1
OTC 4.0
DMAP 3.9
RFP 3.8
Apomorphine 3.8
AZT 3.7
BLM 3.7
AZT 3.5
Vitamin E 3.4
Glutathione 3.3
niacin 3.2
CSF 3.2
Mutagen 3.1
Propofol 3.0
MDS 3.0
TAT 2.8
Fluorescein 2.7
FAD 2.6
MRC 2.3
PCP 2.2
Fluorescein 2.2
Spectrum 2.1
Portal 2.0
ascorbate 1.9
citric acid 1.8
ICI 1.7
vitamin E 1.6
Asn 1.6
lysine 1.6
Nephron 1.5
EPA 1.3
Gel 1.2
ROC 1.2
Spectrum 1.1
ENT 1.0
Nephron 1.0
Leaf 0.7
caffeine -0.3
IL-2 -0.8
Cardiovasc -1.5
Enzyme
tRNA isopentenyltransferase 10.0
sulfur dioxygenase 8.8
complex I 8.4
acylglycerol kinase 8.4
GMP reductase 8.3
glycerate kinase 8.0
rhomboid protease 7.3
aspartyl-tRNA synthetase 7.2
cytochrome oxidase 7.1
tRNase Z 7.0
deoxyguanosine kinase 6.9
succinate dehydrogenase 6.8
adenylosuccinate lyase 6.5
histidyl-tRNA synthetase 6.5
phosphatidylserine decarboxylase 6.5
alanyl-tRNA synthetase 6.3
glutaryl-CoA dehydrogenase 6.3
NADH dehydrogenase 6.2
pyruvate dehydrogenase 6.2
PRPP synthetase 6.2
sulfhydryl oxidase 6.2
thymidine phosphorylase 6.1
acyl-CoA dehydrogenase 6.0
pyruvate dehydrogenase 6.0
pyruvate dehydrogenase 6.0
RNase P 6.0
citrate synthase 5.9
acyl-CoA dehydrogenase 5.9
aconitase 5.9
ATP synthase 5.9
tryptophanyl-tRNA synthetase 5.7
phenylalanyl-tRNA synthetase 5.6
biotinidase 5.5
succinyl-CoA synthetase 5.4
IscS 5.3
ornithine transcarbamylase 4.9
diaphorase 4.9
branching enzyme 4.8
PDH 4.7
glycerol kinase 4.6
DNA polymerase 4.5
TMT 4.5
MDH 4.4
MDH 4.3
PHD 4.3
succinic dehydrogenase 4.3
AMP-activated protein kinase 4.3
LasR 4.3
AMPK 4.3
ferrochelatase 4.2
SCS 4.1
nucleotidase 4.1
ECH 4.0
chaperonin 4.0
PDK1 3.9
21-hydroxylase 3.9
alpha-ketoglutarate dehydrogenase 3.8
purine nucleoside phosphorylase 3.6
ribonucleotide reductase 3.6
ribonucleotide reductase 3.5
pyruvate carboxylase 3.5
PNGase F 3.5
creatine kinase 3.3
CPR 3.3
glycerol-3-phosphate dehydrogenase 3.3
AMPK 3.3
glycerol-3-phosphate dehydrogenase 3.3
MPP 3.2
TdT 3.2
NQO1 3.1
TAT 2.9
phosphoinositide 3-kinase 2.6
topoisomerase 2.5
topoisomerase 2.4
UDP-glucuronosyltransferase 2.4
ATPase 2.2
glutathione peroxidase 2.2
enolase 2.2
PCP 2.2
phosphofructokinase 2.2
more...
Compound
reduced riboflavin 8.5
heme O 8.1
CoQ 7.9
Coenzyme Q10 7.9
coenzyme Q10 7.9
AMPD 7.6
Deoxyuridine 7.5
4-oxobutanoic acid 7.5
COX 7.3
3-methylcrotonyl-CoA 7.2
Triphosphate 7.1
CoQ9 7.1
Ferricyanide 6.8
BRA 6.8
Cytochrome c 6.5
MGA 6.4
4-hydroxyphenylpyruvate 6.1
Riboflavin 6.0
ubiquinone 6.0
AICAR 6.0
Riluzole 5.4
Rotenone 5.4
phosphocreatine 5.4
Fumarate 5.3
nonanoic acid 5.3
AICAR 5.1
Levetiracetam 5.1
Acyl-CoA 5.1
MPT 5.1
Coenzyme A 5.0
B17 5.0
dGMP 5.0
carbamyl phosphate 4.9
folinic acid 4.9
ubiquinol 4.9
decanoic acid 4.9
Clofibrate 4.8
decanoic acid 4.7
Kainic acid 4.7
Kainic acid 4.7
DAPT 4.6
L-carnitine 4.5
Epigallocatechin 4.5
BSO 4.5
NADH 4.5
17-OHP 4.4
Linezolid 4.4
HCA 4.4
4-hydroxybenzoic acid 4.4
Rapamycin 4.4
AAT 4.3
Enalapril 4.3
CIT 4.2
ATP 4.2
DPI 4.2
Lactate 4.1
FMN 4.1
PDH 4.1
Valproic acid 4.1
Wellcome 4.0
Guo 4.0
N-acetylaspartate 4.0
Carnitine 3.9
nonyl 3.9
Taurine 3.9
Thiamine 3.8
POP 3.8
DNA 3.7
leucine 3.7
NAD 3.7
Argentine 3.6
DAMP 3.6
DES 3.6
SO3 3.6
NAD 3.6
nicotinic acid 3.5
nicotinic acid 3.5
nicotinic acid 3.5
Guo 3.4
AZT 3.4
more...