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
SCA7	17
A-T	17
IscU	17
lipoamide dehydrogenase	16
ISCU	16
Nrf2	16
NFS1	16
SACS	16
transferrin	16
erythropoietin	15
NMR	14
superoxide dismutase	14
ISD11	13
GBS	13
unknown function	12
ROS	12
amyloid precursor protein	12
transferrin receptor	12
mitochondrial ferritin	12
ferredoxin	11
dentatorubral-pallidoluysian atrophy	11

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
vitamin E deficiency	55
Cerebellum	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
degenerative disease	34
multiple sclerosis	34
Machado-Joseph disease	33
apraxia	31
peripheral neuropathy	30
ventricular hypertrophy	29
stroke	28
mitochondrial disease	28
heart disease	28
SCA2	28
SCA1	27
cancer	26
dilated cardiomyopathy	26
epilepsy	26
optic atrophy	25
muscular atrophy	25
sensory neuropathy	25
neurological disease	21

Symptom
ataxia	526
cerebellar ataxia	133
dysarthria	75
weakness	44
tremor	27
dystonia	23
spasticity	22
ophthalmoplegia	12
anesthesia	11
paraparesis	11
ataxic gait	10
chorea	10
seizures	10
thinning	9
pain	7
hypotonia	7
myoclonus	7
abnormal gait	7
neurological disability	6
incoordination	5
hyperoxia	4
starvation	4
headache	4
pallor	4
Ataxic	3
dyspnea	3
DNA marker	3
angina	3
fatigue	3
nausea	3
analgesia	3
collapse	3
discomfort	2
syncope	2
chest pain	2
inanition	2
dizziness	2
abdominal pain	2
poor balance and coordination	2
back pain	2

Enzyme
aconitase	69
succinate dehydrogenase	28
IscS	26
complex I	19
pyruvate dehydrogenase	19
diaphorase	16
superoxide dismutase	14
cytochrome oxidase	11
RNA polymerase	10
pyruvate dehydrogenase	10
glutathione peroxidase	10
ferrochelatase	10
pyruvate dehydrogenase	10
pantothenate kinase	9
MPP	8
citrate synthase	8
proteasome	7
catalase	7
ceruloplasmin	7
protein kinase	7
ATPase	6
DNA polymerase	6
ACS	5
creatine kinase	4
endonuclease	4
caspase-3	4
heme oxygenase	4
TAT	3
luciferase	3
fumarase	3
alpha-ketoglutarate dehydrogenase	3
mitogen-activated protein kinase	3
hexosaminidase	3
valine dehydrogenase	3
PDH	3
thioredoxin reductase	3
peroxidase	3
ACE	3
RNase	2
acyl-CoA dehydrogenase	2