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

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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 0.130 SLC6A5 0.063 GLRB 0.022 inhibitory glycine receptor 0.012 ARHGEF9 0.009 GlyT2 0.007 collybistin 0.004 STHE 0.004 LNX2 0.002 GPHN 0.002 PRDM5 0.002 alpha-1 subunit 0.001 LNX 0.001 gephyrin 0.001 GABRA1 0.000 GABRG2 0.000 MIM 0.000 Fukuyama-type congenital muscular dystrophy 0.000 pallid 0.000 CSF1 0.000 RhoGEF 0.000 TM1 0.000 asparagine synthetase 0.000 Golgi protein 0.000 calnexin 0.000 chloride channel 0.000 GABA(A) receptor 0.000 GABA 0.000 E3 ubiquitin ligase 0.000 macrophage colony-stimulating factor 0.000 HEK 0.000 PKC 0.000 creatine kinase 0.000 telomeric 0.000 TOF 0.000 CSF 0.000 She 0.000 membrane protein 0.000 Mol 0.000 ubiquitin 0.000 more...

Disease STHE 0.004 Benign neonatal sleep myoclonus 0.003 GPHN 0.002 familial disorder 0.000 hyperventilation syndrome 0.000 mild mental retardation 0.000 epilepsy 0.000 aspiration pneumonia 0.000 spastic paraplegia 0.000 agoraphobia 0.000 focal epilepsy 0.000 keratoconus 0.000 sudden infant death syndrome 0.000 movement disorder 0.000 narcolepsy 0.000 emotional stress 0.000 tetraplegia 0.000 astigmatism 0.000 sclera 0.000 inguinal hernia 0.000 developmental delay 0.000 genetic disorder 0.000 brain atrophy 0.000 muscular dystrophy 0.000 status epilepticus 0.000 encephalitis 0.000 neurological disease 0.000 Syndrome 0.000 myopathy 0.000 rare disease 0.000 myelodysplastic syndrome 0.000 chronic pain 0.000 cornea 0.000 malnutrition 0.000 fits 0.000 dysplasia 0.000 malaria 0.000 West 0.000

Symptom Hyperekplexia 0.977 hypertonia 0.010 startle reaction 0.003 Spastic 0.000 myoclonus 0.000 muscle stiffness 0.000 clonus 0.000 spasticity 0.000 abnormal gait 0.000 cyanosis 0.000 seizures 0.000 paraparesis 0.000 hypotonia 0.000 spasm 0.000 tremor 0.000 regurgitation 0.000 dystonia 0.000 syncope 0.000 thinning 0.000 sleepiness 0.000 ataxia 0.000 anesthesia 0.000 fatigue 0.000 pain 0.000

Drug Propofol 0.000 lysine 0.000 CSF 0.000

Enzyme asparagine synthetase 0.000 succinate dehydrogenase 0.000 creatine kinase 0.000 protein kinase C 0.000

Compound Clonazepam 0.001 Vigabatrin 0.000 Propofol 0.000 Taurine 0.000 GABA 0.000 GABA 0.000 gamma-aminobutyric acid 0.000 asparagine 0.000 A 3 0.000 molybdenum 0.000 isoleucine 0.000 isoleucine 0.000 glutamine 0.000 His 0.000 arginine 0.000 serine 0.000 alanine 0.000 TOF 0.000 Ile 0.000 proline 0.000 cysteine 0.000 lysine 0.000 leucine 0.000 glutamate 0.000 Dec 0.000 zinc 0.000 DNA 0.000 tyrosine 0.000 sodium 0.000 Clin 0.000 water 0.000

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