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:C0026827 (hypotonia)
5,860 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 Sep 337 MRI 290 X-linked 282 She 238 Mol 237 strabismus 109 FISH 103 creatine kinase 77 axonal 71 merosin 62 MIM 59 growth hormone 58 X-linked recessive 55 Rett syndrome 52 MECP2 49 CSF 46 p11 45 MTM1 41 cytochrome c oxidase 41 collagen 39 transferrin 39 chromosome 21 37 cryptic 36 telomeric 35 ATP 35 long chain 33 insulin 33 Pol 30 thyroid hormone 29 sit 29 endoplasmic reticulum 28 ATPase 28 GABA 28 SMA 27 alkaline phosphatase 27 Walker 27 RYR1 26 SNRPN 25 p13 25 monocarboxylate transporter 8 24 DAG 24 pyruvate dehydrogenase complex 24 SHANK3 24 biotinidase 23 GAA 23 CDKL5 23 myotubularin 23 glucosidase 23 NADH 22 dystrophin 22 B12 22 acid alpha-glucosidase 21 phosphatase 21 ACTA1 20 NALCN 20 X-chromosome 20 pyruvate dehydrogenase 19 p22 19 glycoprotein 17 asymmetrical 17 REM 17 LAMA2 17 ALD 17 PWS 16 p23 16 Sotos syndrome 16 tRNA 16 myosin 15 histone 15 ubiquitin 15 aspartoacylase 15 OCRL 15 GTG 15 PREPL 14 membrane protein 14 ACTH 14 methyltransferase 14 p15 14 MAGEL2 14 catalase 13 more...

Disease developmental delay 1142 mental retardation 586 mental retardation 568 epilepsy 396 myopathy 349 failure to thrive 294 encephalopathy 292 obesity 279 autism 191 macrocephaly 181 hypogonadism 147 respiratory failure 141 scoliosis 134 cardiomyopathy 134 muscular dystrophy 131 nystagmus 129 prolapse 127 dysplasia 121 strabismus 118 lactic acidosis 117 Joubert syndrome 114 hyperphagia 113 muscular atrophy 113 Down syndrome 113 severe mental retardation 110 genetic disorder 109 trisomy 107 hypoglycemia 105 fits 100 Leigh syndrome 93 optic atrophy 92 HCG 91 hydrocephalus 89 brain atrophy 88 neuropathy 88 cerebral palsy 82 cleft palate 81 cognitive impairment 77 Syndrome 76 depression 71 DM1 67 deafness 66 coma 65 heart disease 62 hypertrophic cardiomyopathy 61 diabetes 60 Zellweger syndrome 59 Rett syndrome 58 apraxia 58 cataract 56 AMD 55 glaucoma 52 sleep apnea 51 sensorineural hearing loss 51 metabolic disorder 51 peripheral neuropathy 50 mitochondrial disease 50 developmental disabilities 49 hypertension 48 Angelman syndrome 48 hernia 47 blindness 46 gastroesophageal reflux disease 46 hypothyroidism 45 obstructive sleep apnea 45 heart failure 45 sepsis 44 malnutrition 44 congenital disorder 44 stroke 42 tumor 42 anemia 41 mild mental retardation 41 cancer 41 dysphagia 41 Cohen syndrome 39 thrombocytopenia 39 pneumonia 39 neutropenia 39 lissencephaly 39 more...

Symptom hypotonia 5860 seizures 985 weakness 647 ataxia 420 spasticity 183 lethargy 136 vomiting 126 respiratory distress 123 dystonia 115 anesthesia 100 hypertonia 96 hepatomegaly 84 constipation 74 pain 74 tremor 70 dysarthria 65 cerebellar ataxia 62 sleepiness 58 hepatosplenomegaly 51 diarrhea 49 hypothermia 46 ophthalmoplegia 45 cyanosis 43 chorea 41 myoclonus 33 paresis 29 thinning 27 dyspnea 26 tachypnea 22 clumsiness 22 fatigue 22 headache 22 hemiplegia 21 collapse 21 incoordination 21 pallor 20 stridor 19 apathy 19 athetosis 19 drooling 17 cough 17 ataxic gait 15 anorexia 15 agitation 14 hypercapnia 13 nausea 13 analgesia 13 dizziness 12 abnormal gait 12 snoring 12 abnormal breathing 12 splenomegaly 11 abdominal pain 11 asthenia 11 spasm 11 polyuria 10 overweight 10 benign congenital hypotonia 10 torticollis 9 tonic-clonic seizure 9 clonus 9 intention tremor 9 muscle stiffness 8 myalgia 8 paraparesis 8 syncope 7 chronic constipation 7 numbness 7 catatonia 7 paresthesia 6 hunger 6 polydipsia 6 ketonuria 6 regurgitation 6 partial seizure 6 insomnia 6 excessive sweating 5 shortness of breath 5 fasciculation 5 dry skin 5 more...

Drug CSF 46 lysine 32 NADH 22 Dermatol 13 Vitamin B12 11 BH4 9 DM1 7 Growth hormone 7 citric acid 7 Vitamin B 6 Growth hormone 6 MDS 5 ascorbate 5 Glucagon 4 Cobalamin 4 Posture 4 vitamin E 4 Sinemet 4 HCG 3 Zmax 3 Spectrum 3 Clonidine 3 Portal 3 Spectrum 3 lactose 3 pyridoxal phosphate 3 caffeine 3 Carbidopa 3 SF6 3 Azithromycin 3 Cardiovasc 3 ADM 3 OTC 2 Pro-Banthine 2 Nephron 2 Dial 2 OTC 2 ENT 2 Scopolamine 2 CaCl2 2 Miglustat 2 FAD 2 9-THC 2 CaCl2 2 CaCl2 2 Lioresal 2 PCB 2 Apomorphine 2 Bayer 1 Meconium 1 CTA 1 ABC 1 Adenosine deaminase 1 Perindopril 1 DPA 1 Guanidine 1 GVG 1 VCR 1 Ipecac 1 Honey 1 Adriamycin 1 Eculizumab 1 Somatropin 1 Indomethacin 1 TEL 1 ampicillin 1 Asthma 1 Frontal 1 Galactose 1 NLF 1 Pyridostigmine bromide 1 Thyradin 1 C3F8 1 Tao 1 Orion 1 Indocid 1 Ipratropium bromide 1 MAP 1 Brotizolam 1 Rocuronium 1 more...

Enzyme creatine kinase 81 complex I 62 cytochrome oxidase 57 pyruvate dehydrogenase 41 ATPase 33 alkaline phosphatase 27 biotinidase 23 acyl-CoA dehydrogenase 19 pyruvate dehydrogenase 18 succinate dehydrogenase 18 pyruvate dehydrogenase 18 catalase 17 aspartoacylase 14 mitogen-activated protein kinase 14 alpha-glucosidase 13 branching enzyme 12 diaphorase 11 acyl-CoA dehydrogenase 11 glutaryl-CoA dehydrogenase 11 ceruloplasmin 11 phosphomannomutase 10 pyruvate carboxylase 10 lysyl hydroxylase 10 sulfatase 10 protein kinase 10 alanine aminotransferase 9 acetylcholinesterase 9 aspartate aminotransferase 9 glycine decarboxylase 9 proteasome 9 fumarase 9 monoamine oxidase 9 glucoamylase 9 succinic semialdehyde dehydrogenase 8 GABA transaminase 8 phosphorylase 8 ATP synthase 8 superoxide dismutase 8 beta-galactosidase 7 GTP cyclohydrolase I 7 adenylosuccinate lyase 7 methylmalonyl-CoA mutase 7 glutathione peroxidase 7 APC 7 MEK 7 3-hydroxyacyl-CoA dehydrogenase 7 renin 7 lactate dehydrogenase 7 ERK 7 propionyl-CoA carboxylase 6 alpha-ketoglutarate dehydrogenase 6 methionine synthase 6 methionine synthase 6 spermine synthase 6 RNA polymerase 6 sepiapterin reductase 6 acyl-CoA oxidase 6 3-hydroxyacyl-CoA dehydrogenase 6 CPR 6 hexosaminidase 6 arylsulfatase A 6 dihydroxyacetone phosphate acyltransferase 5 methylenetetrahydrofolate reductase 5 dihydropteridine reductase 5 PRPP synthetase 5 CPT 5 guanidinoacetate methyltransferase 5 tyrosine hydroxylase 5 methylenetetrahydrofolate reductase 5 glutamate dehydrogenase 5 propionyl-CoA carboxylase 5 glutamate dehydrogenase 5 glutamate dehydrogenase 5 sulfite oxidase 5 ECH 5 citrate synthase 5 sulfite oxidase 5 methylcrotonyl-CoA carboxylase 4 NADH dehydrogenase 4 neuraminidase 4 more...

Compound Dec 365 Clin 360 DNA 294 His 125 calcium 77 glucose 67 sodium 52 oxygen 46 arginine 40 water 38 phosphate 38 lysine 35 ATP 35 leucine 31 A 3 31 glutamate 31 gamma-aminobutyric acid 31 GABA 29 CoA 29 galactose 28 GABA 28 alanine 27 copper 26 potassium 26 methionine 24 tyrosine 23 ammonia 22 NADH 22 Phe 21 iron 21 homocysteine 20 creatinine 20 sulfate 19 vitamin D 19 GTP 19 CO2 18 N-acetylaspartate 18 serine 18 glutamine 17 Cardiol 17 urea 17 L-carnitine 16 zinc 16 MCA 16 ACTH 16 Ile 16 MCA 16 isoleucine 16 isoleucine 15 valine 15 A 1 15 glutamic acid 14 TSH 14 threonine 14 Thyroid 13 Guo 13 Guo 13 barium 13 SDS 12 Gly 12 ubiquinone 12 GlcNAc 11 5-hydroxytryptophan 11 coenzyme Q10 11 hydrogen 10 nicotinamide 10 noradrenaline 10 proline 10 phosphorus 10 salt 10 Cytochrome c 10 5-HT 9 betaine 9 2-oxoglutarate 9 cysteine 9 pyrimidine 9 Asp 9 ornithine 9 ornithine 9 ornithine 9 more...

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