UMLS:C0751651 - FACTA Search

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
Mol	186
ATP	141
tRNA	122
Sep	117
cytochrome c oxidase	99
MELAS	74
MRI	61
POLG	49
She	38
MERRF	35
NADH	28
DNA polymerase gamma	28
COX	28
frataxin	27
axonal	25
ATP synthase	21
OXPHOS	20
X-linked	20
ROS	19
LHON	17
insulin	17
cytochrome	17
DNA polymerase	16
CSF	16
citrate synthase	16
SURF1	15
NAD	15
ND4	14
ubiquinone	14
pyruvate dehydrogenase	13
Barth syndrome	13
ND6	13
cytochrome c	12
ADP	12
cytochrome b	12
creatine kinase	11
ND1	11
Cytochrome c	10
tafazzin	10
pyruvate dehydrogenase complex	10
GAA	10
complex I)	10
Polymerase	9
Dictyostelium	9
helicase	9
mTOR	9
osteosarcoma	9
MRS	9
oxidoreductase	8
AMP-activated protein kinase	8
catalase	8
GDF15	8
C10orf2	8
ND5	8
PGC	8
NARP	7
RRM2B	7
TFAM	7
SDHB	7
mitochondrial transcription factor A	7
pol	7
Pol	7
ATPase	7
superoxide dismutase	7
FRDA	7
AMPK	7
ND3	7
TL1A	7
BCS1L	6
glutathione peroxidase	6
EARS2	6
OPA1	6
urocortin	6
EPI	6
SUCLA2	6
MnSOD	6
NADH dehydrogenase	6
ATP6	6
threonine	6
mitochondrial ATPase	6

Disease
mitochondrial disease	1844
lactic acidosis	206
Leigh syndrome	149
encephalopathy	149
stroke	147
myopathy	131
epilepsy	117
mitochondrial myopathy	109
Leber's hereditary optic neuropathy	109
cardiomyopathy	101
diabetes	101
MELAS	88
MELAS	74
mitochondrial encephalomyopathy	72
deafness	68
neuropathy	67
Kearns-Sayre syndrome	56
prolapse	47
developmental delay	46
hypertrophic cardiomyopathy	41
sensorineural hearing loss	36
cancer	36
MERRF	35
Alpers	32
heart failure	31
myoclonus epilepsy	30
optic atrophy	30
Friedreich's ataxia	28
Parkinson's disease	27
failure to thrive	24
anemia	22
status epilepticus	22
peripheral neuropathy	22
mental retardation	20
retinitis pigmentosa	20
Chronic progressive external ophthalmoplegia	20
blindness	20
dilated cardiomyopathy	20
mental retardation	20
leukoencephalopathy	20
migraine	20
depression	18
autism	17
neurological disease	17
renal disease	17
Alzheimer's disease	17
hypoglycemia	16
retinopathy	16
polyneuropathy	14
Complex I deficiency	14
liver disease	14
Fanconi	14
dementia	14
respiratory failure	14
renal failure	14
heart block	14
Barth syndrome	13
cognitive impairment	13
fits	12
multiple sclerosis	12
muscular atrophy	12
dysphagia	12
sideroblastic anemia	11
ischemia	11
brain atrophy	10
Pearson's syndrome	10
leukodystrophy	10
heart disease	10
hypertension	10
dysplasia	9
HIV	9
Fanconi syndrome	9
obesity	9
sepsis	9
nystagmus	9
cataract	9
movement disorder	9
congestive heart failure	9
preeclampsia	9
MRS	9

Symptom
seizures	119
ophthalmoplegia	113
weakness	76
ataxia	72
hypotonia	50
fatigue	33
anesthesia	21
cerebellar ataxia	19
myoclonus	18
dysarthria	18
dystonia	17
headache	16
diarrhea	11
myalgia	10
spasticity	9
vomiting	9
pain	8
tremor	8
hepatomegaly	7
sleepiness	6
lethargy	6
dyspnea	5
muscle cramps	5
hyperoxia	5
starvation	4
abdominal pain	4
analgesia	3
cachexia	3
paraparesis	3
collapse	3
constipation	3
nausea	2
Sensory ataxia	2
Ataxic	2
syncope	2
tonic-clonic seizure	2
hemiplegia	2
respiratory distress	2
exhaustion	2
chorea	2
nausea and vomiting	2
paresis	2
blurred vision	2
paresthesia	2
incoordination	1
dizziness	1
DNA marker	1
dysesthesia	1
ENT	1
overweight	1
partial seizure	1
hepatosplenomegaly	1
clumsiness	1
pallor	1
hypocapnia	1
hypersomnia	1
spasm	1
hypothermia	1
hypertonia	1
External ophthalmoplegia	1
thinning	1
asthenia	1
chest pain	1
hip pain	1
polydipsia	1
benign congenital hypotonia	1
Exercise intolerance	1
neurological disability	1
anorexia	1
ataxic gait	1
impaired motor coordination	1
Postoperative pain	1
neck pain	1
numbness	1
muscle stiffness	1
erythema	1
Cold intolerance	1
cough	1
snoring	1
hypercapnia	1

Enzyme
complex I	176
cytochrome oxidase	70
succinate dehydrogenase	51
ATP synthase	24
pyruvate dehydrogenase	23
DNA polymerase	22
ATPase	18
citrate synthase	16
AMP-activated protein kinase	15
pyruvate dehydrogenase	13
pyruvate dehydrogenase	13
creatine kinase	11
diaphorase	10
superoxide dismutase	10
NADH dehydrogenase	9
catalase	8
AMPK	7
AMPK	7
glutathione peroxidase	6
aconitase	6
mitogen-activated protein kinase	5
RNase P	5
acyl-CoA dehydrogenase	5
protein kinase	5
proteasome	4
thymidine phosphorylase	4
reverse transcriptase	3
NQO1	3
alanine aminotransferase	3
topoisomerase	3
topoisomerase	3
acyl-CoA dehydrogenase	3
luciferase	3
aspartate aminotransferase	3
ornithine transcarbamylase	3
CPR	3
chaperonin	2
succinic dehydrogenase	2
aspartyl-tRNA synthetase	2
PDK1	2
xanthine oxidase	2
ribonucleotide reductase	2
ribonucleotide reductase	2
ERK	2
glutathione S-transferase	2
phosphoinositide 3-kinase	2
lactate dehydrogenase	2
endonuclease	2
MEK	1
rhomboid protease	1
ferrochelatase	1
TMT	1
acylglycerol kinase	1
ECH	1
TAT	1
glutaryl-CoA dehydrogenase	1
ACE	1
ribonuclease	1
SCS	1
succinyl-CoA synthetase	1
enolase	1
glyceraldehyde-3-phosphate dehydrogenase	1
RNase	1
lipase	1
21-hydroxylase	1
ribonuclease	1
nucleotidase	1
DNase	1
RNase	1
PNGase F	1
tRNA isopentenyltransferase	1
GMP reductase	1
tryptophanyl-tRNA synthetase	1
tRNase Z	1
alkaline phosphatase	1
pepsin	1
IscS	1
phenylalanyl-tRNA synthetase	1
PCP	1
histidyl-tRNA synthetase	1