UMLS:C0234166 - FACTA Search

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

Query: UMLS:C0234166 (Hyperekplexia)
84 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
GLRA1	30
SLC6A5	13
inhibitory glycine receptor	11
GlyT2	9
Mol	8
GLRB	7
Sep	6
GABA	6
MIM	5
gephyrin	5
collybistin	4
ARHGEF9	4
alpha-1 subunit	3
TM1	2
GABA(A) receptor	2
STHE	2
She	2
chloride channel	2
membrane protein	1
E3 ubiquitin ligase	1
telomeric	1
TOF	1
GABRA1	1
CSF	1
pallid	1
calnexin	1
PRDM5	1
PKC	1
HEK	1
LNX2	1
MRI	1
GPHN	1
asparagine synthetase	1
endoplasmic reticulum	1
GABRG2	1
CSF1	1
macrophage colony-stimulating factor	1
RhoGEF	1
LNX	1
Golgi protein	1

Disease
epilepsy	15
encephalitis	2
aspiration pneumonia	2
sudden infant death syndrome	2
movement disorder	2
STHE	2
developmental delay	2
genetic disorder	2
mild mental retardation	2
familial disorder	2
keratoconus	1
spastic paraplegia	1
agoraphobia	1
dysplasia	1
malnutrition	1
rare disease	1
neurological disease	1
narcolepsy	1
astigmatism	1
myelodysplastic syndrome	1
fits	1
cornea	1
tetraplegia	1
inguinal hernia	1
myopathy	1
Benign neonatal sleep myoclonus	1
chronic pain	1
sclera	1
emotional stress	1
focal epilepsy	1
Syndrome	1
muscular dystrophy	1
status epilepticus	1
brain atrophy	1
GPHN	1
hyperventilation syndrome	1
malaria	1
West	1