UMLS:C0016719 - FACTA Search

Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Target Concepts:

Query: UMLS:C0016719 (Friedreich's ataxia)
2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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Concepts found in the documents ranked by [ Frequency | Pointwise Mutual Information | Symmetric Conditional Probability ] .

Human Gene/Protein
frataxin	1111
GAA	386
Mol	185
Frataxin	167
Sep	112
FRDA	88
aconitase	69
axonal	66
ATP	47
ferritin	41
MRI	33
insulin	30
SCA2	28
SCA1	27
histone	24
cysteine desulfurase	23
histone deacetylase	21
SCA3	21
SCA6	20
IscU	17
SCA7	17
A-T	17
ISCU	16
transferrin	16
NFS1	16
Nrf2	16
SACS	16
lipoamide dehydrogenase	16
erythropoietin	15
superoxide dismutase	14
NMR	14
GBS	13
ISD11	13
unknown function	12
ROS	12
mitochondrial ferritin	12
transferrin receptor	12
amyloid precursor protein	12
ferredoxin	11
NADH	11
dentatorubral-pallidoluysian atrophy	11
erythroid	11
hemoglobin	11
glutathione peroxidase	10
GSH	10
fused	10
pyruvate dehydrogenase complex	10
alpha-tocopherol transfer protein	10
pyruvate dehydrogenase	10
ferrochelatase	10
GAA1	9
aprataxin	9
GABA	9
muscle creatine kinase	9
pantothenate kinase	9
Hsp60	8
CSF	8
telomeric	8
MELAS	8
NAD	8
endoplasmic reticulum	8
citrate synthase	8
cardiac muscle	8
p53	8
DRPLA	8
hemochromatosis	8
ubiquinone	8
MERRF	7
X-linked	7
caspase-3	7
DM1	7
SPG7	7
prion	7
hereditary hemochromatosis	6
DM2	6
senataxin	6
UTR	6
catalase	6
ataxin-3	6
brain-derived neurotrophic factor	6

Disease
Friedreich's ataxia	2098
cardiomyopathy	198
Huntington's disease	134
Alzheimer's disease	109
diabetes	107
Parkinson's disease	104
hypertrophic cardiomyopathy	92
neuropathy	77
amyotrophic lateral sclerosis	66
DM1	63
FRDA	61
Cerebellum	55
vitamin E deficiency	55
iron overload	53
scoliosis	53
hereditary ataxia	52
ATM	50
Charcot-Marie-Tooth disease	44
fragile X syndrome	38
spastic paraplegia	37
heart failure	36
olivopontocerebellar atrophy	35
multiple sclerosis	34
degenerative disease	34
Machado-Joseph disease	33
apraxia	31
peripheral neuropathy	30
ventricular hypertrophy	29
stroke	28
heart disease	28
SCA2	28
mitochondrial disease	28
SCA1	27
dilated cardiomyopathy	26
cancer	26
epilepsy	26
optic atrophy	25
sensory neuropathy	25
muscular atrophy	25
neurological disease	21
SCA6	20
dementia	18
SCA7	17
myopathy	17
glucose intolerance	17
Leigh syndrome	17
Leber's hereditary optic neuropathy	16
genetic disorder	16
malnutrition	15
nystagmus	15
mental retardation	14
mental retardation	13
muscular dystrophy	13
Hypertrophic cardiomyopathy	13
retinitis pigmentosa	13
depression	12
neuromuscular disorder	12
hemochromatosis	12
deafness	12
cognitive impairment	12
cystic fibrosis	12
iron deficiency	11
polyneuropathy	11
cerebellar syndrome	11
congestive heart failure	11
movement disorder	11
parkinsonism	11
Wilson's disease	10
GSH	10
schizophrenia	10
lactic acidosis	10
X-linked sideroblastic anemia	10
ABL	10
thalassemia	10
sideroblastic anemia	10
neuroblastoma	9
cerebral palsy	9
Spinocerebellar ataxia	9
tumor	9
Refsum disease	8

Symptom
ataxia	526
cerebellar ataxia	133
dysarthria	75
weakness	44
tremor	27
dystonia	23
spasticity	22
ophthalmoplegia	12
paraparesis	11
anesthesia	11
chorea	10
seizures	10
ataxic gait	10
thinning	9
abnormal gait	7
pain	7
myoclonus	7
hypotonia	7
neurological disability	6
incoordination	5
pallor	4
headache	4
hyperoxia	4
starvation	4
angina	3
nausea	3
DNA marker	3
fatigue	3
Ataxic	3
analgesia	3
collapse	3
dyspnea	3
bradykinesia	2
chest pain	2
inanition	2
poor balance and coordination	2
abdominal pain	2
back pain	2
intention tremor	2
discomfort	2
syncope	2
dizziness	2
anorexia	2
discomfort	2
overweight	1
hypertonia	1
memory loss	1
paresis	1
spasm	1
clumsiness	1
paresthesia	1
functional recovery	1
exertional chest pain	1
CSR	1
asthenia	1
respiratory distress	1
clonus	1
urgent urination	1
apathy	1
splenomegaly	1
athetosis	1
impaired motor coordination	1
loss of balance	1
exhaustion	1
cough	1
male subfertility	1
Pyramidal signs	1
diarrhea	1
lethargy	1
Gastrointestinal symptoms	1
vomiting	1
sleepiness	1
hypercapnia	1
ENT	1

Enzyme
aconitase	69
succinate dehydrogenase	28
IscS	26
pyruvate dehydrogenase	19
complex I	19
diaphorase	16
superoxide dismutase	14
cytochrome oxidase	11
RNA polymerase	10
ferrochelatase	10
glutathione peroxidase	10
pyruvate dehydrogenase	10
pyruvate dehydrogenase	10
pantothenate kinase	9
citrate synthase	8
MPP	8
protein kinase	7
catalase	7
proteasome	7
ceruloplasmin	7
DNA polymerase	6
ATPase	6
ACS	5
heme oxygenase	4
caspase-3	4
endonuclease	4
creatine kinase	4
hexosaminidase	3
fumarase	3
TAT	3
luciferase	3
thioredoxin reductase	3
peroxidase	3
alpha-ketoglutarate dehydrogenase	3
PDH	3
valine dehydrogenase	3
mitogen-activated protein kinase	3
ACE	3
coproporphyrinogen oxidase	2
RNase	2
AMP-activated protein kinase	2
RNase H	2
TOR	2
aspartate aminotransferase	2
pyruvate kinase	2
SCP	2
lecithin:cholesterol acyltransferase	2
biliverdin reductase	2
diaphorase	2
malate dehydrogenase	2
NADH dehydrogenase	2
histone acetyltransferase	2
RNase	2
PDK1	2
lipoprotein lipase	2
MIP	2
pyruvate decarboxylase	2
acyl-CoA dehydrogenase	2
ethanolamine kinase	1
TRS	1
thymidylate synthase	1
LipA	1
thrombin	1
chymotrypsin	1
CAD	1
CAD	1
delta-aminolevulinic acid dehydratase	1
isocitrate dehydrogenase	1
neuraminidase	1
phosphoglycerate kinase	1
NADH kinase	1
alpha-L-iduronidase	1
beta-galactosidase	1
ATP synthase	1
isocitrate dehydrogenase	1
PIP kinase	1
acid phosphatase	1
alanine aminotransferase	1
biotinidase	1
ERK	1