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) .

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
GABA 6
Sep 6
MIM 5
gephyrin 5
collybistin 4
ARHGEF9 4
alpha-1 subunit 3
She 2
TM1 2
GABA(A) receptor 2
STHE 2
chloride channel 2
asparagine synthetase 1
HEK 1
more...
Disease
epilepsy 15
genetic disorder 2
developmental delay 2
encephalitis 2
mild mental retardation 2
movement disorder 2
STHE 2
familial disorder 2
sudden infant death syndrome 2
aspiration pneumonia 2
sclera 1
emotional stress 1
dysplasia 1
rare disease 1
narcolepsy 1
astigmatism 1
fits 1
cornea 1
tetraplegia 1
myopathy 1
more...
Symptom
Hyperekplexia 84
hypertonia 31
seizures 12
myoclonus 8
startle reaction 5
spasticity 4
muscle stiffness 3
anesthesia 2
tremor 2
cyanosis 2
pain 2
clonus 2
sleepiness 1
abnormal gait 1
ataxia 1
Spastic 1
dystonia 1
hypotonia 1
regurgitation 1
syncope 1
more...
Drug
lysine 2
CSF 1
Propofol 1
Enzyme
asparagine synthetase 1
succinate dehydrogenase 1
protein kinase C 1
creatine kinase 1
Compound
Dec 9
Clonazepam 6
GABA 6
GABA 6
DNA 5
arginine 4
His 4
gamma-aminobutyric acid 3
alanine 3
serine 3
sodium 2
cysteine 2
Clin 2
lysine 2
glutamine 2
asparagine 2
glutamate 1
water 1
leucine 1
Vigabatrin 1
more...