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
SLC6A5 17.1
GLRA1 17.0
GLRB 16.3
ARHGEF9 15.6
inhibitory glycine receptor 14.9
STHE 14.8
collybistin 14.5
GlyT2 14.3
LNX2 14.3
GPHN 14.2
PRDM5 13.7
LNX 13.0
alpha-1 subunit 12.9
GABRA1 11.9
GABRG2 11.6
gephyrin 11.6
Fukuyama-type congenital muscular dystrophy 10.9
pallid 10.6
CSF1 10.5
RhoGEF 10.4
MIM 10.0
asparagine synthetase 9.7
TM1 9.6
Golgi protein 9.0
calnexin 8.2
chloride channel 7.8
GABA(A) receptor 7.1
E3 ubiquitin ligase 6.1
GABA 6.1
macrophage colony-stimulating factor 5.7
HEK 5.6
PKC 4.9
creatine kinase 4.7
telomeric 4.5
TOF 4.2
CSF 4.0
She 3.8
membrane protein 3.7
ubiquitin 3.5
endoplasmic reticulum 2.6
Mol 2.3
MRI 2.2
Sep 0.2
Disease
Benign neonatal sleep myoclonus 14.9
STHE 14.8
GPHN 14.3
familial disorder 11.4
hyperventilation syndrome 11.1
mild mental retardation 9.5
aspiration pneumonia 8.4
spastic paraplegia 8.0
agoraphobia 8.0
focal epilepsy 7.9
keratoconus 7.8
sudden infant death syndrome 7.6
movement disorder 7.4
narcolepsy 7.2
emotional stress 7.1
tetraplegia 7.0
astigmatism 6.9
sclera 6.9
inguinal hernia 6.7
developmental delay 6.5
epilepsy 6.5
genetic disorder 6.4
brain atrophy 6.3
muscular dystrophy 6.0
status epilepticus 5.7
neurological disease 5.4
encephalitis 5.4
Syndrome 5.2
myopathy 5.0
rare disease 4.9
myelodysplastic syndrome 4.7
chronic pain 4.3
cornea 4.0
malnutrition 3.7
fits 3.6
dysplasia 3.5
malaria 3.1
West 2.4
Symptom
Hyperekplexia 18.5
startle reaction 13.6
hypertonia 13.2
Spastic 11.1
clonus 10.0
muscle stiffness 9.9
myoclonus 9.5
abnormal gait 8.4
spasticity 7.9
cyanosis 7.7
paraparesis 7.1
hypotonia 6.0
seizures 5.8
spasm 5.7
regurgitation 5.5
dystonia 5.5
tremor 5.4
syncope 5.4
thinning 5.1
sleepiness 4.9
ataxia 4.6
fatigue 2.9
anesthesia 2.8
pain 1.5
Drug
Propofol 7.5
lysine 3.7
CSF 3.6
Enzyme
asparagine synthetase 9.6
succinate dehydrogenase 5.5
creatine kinase 4.3
protein kinase C 2.9
Compound
Clonazepam 12.3
Vigabatrin 10.0
Propofol 7.4
Taurine 7.4
gamma-aminobutyric acid 6.2
GABA 6.0
GABA 6.0
asparagine 6.0
A 3 5.6
molybdenum 5.3
isoleucine 5.2
isoleucine 5.2
glutamine 4.8
His 4.3
TOF 4.2
Ile 4.2
serine 4.1
alanine 4.0
arginine 4.0
proline 3.6
cysteine 3.3
lysine 3.2
leucine 2.6
glutamate 2.4
zinc 2.1
tyrosine 2.0
sodium 1.4
DNA 1.2
Dec 0.7
water -0.9
Clin -1.0