Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.01 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
cytochrome c oxidase 41
MTM1 41
transferrin 39
collagen 39
chromosome 21 37
cryptic 36
ATP 35
telomeric 35
long chain 33
insulin 33
Pol 30
sit 29
thyroid hormone 29
ATPase 28
endoplasmic reticulum 28
GABA 28
Walker 27
SMA 27
alkaline phosphatase 27
RYR1 26
SNRPN 25
p13 25
DAG 24
pyruvate dehydrogenase complex 24
monocarboxylate transporter 8 24
SHANK3 24
GAA 23
biotinidase 23
glucosidase 23
myotubularin 23
CDKL5 23
dystrophin 22
B12 22
NADH 22
acid alpha-glucosidase 21
phosphatase 21
X-chromosome 20
NALCN 20
ACTA1 20
pyruvate dehydrogenase 19
p22 19
ALD 17
LAMA2 17
asymmetrical 17
glycoprotein 17
REM 17
p23 16
tRNA 16
PWS 16
Sotos syndrome 16
aspartoacylase 15
GTG 15
histone 15
myosin 15
ubiquitin 15
OCRL 15
p15 14
MAGEL2 14
membrane protein 14
ACTH 14
PREPL 14
methyltransferase 14
RyR1 13
NPHP1 13
OCRL1 13
catalase 13
PMM2 13
mTOR 13
reductase 13
calcium channel 13
glucan 13
SLC3A1 13
p21 13
NMR 12
AHI1 12
parathyroid hormone 12
CO2 12
glutaryl-CoA dehydrogenase 12
cytochrome 12
SDS 12
MEF2C 12
oxidoreductase 12
EHMT1 12
ATP7A 11
ceruloplasmin 11
sarcomeric 11
Barth syndrome 11
MRS 11
acyl-CoA dehydrogenase 11
acetylcholine receptor 11
ryanodine receptor 11
adenylosuccinate lyase 11
SEPN1 11
glycine decarboxylase 11
PIGN 10
lysyl hydroxylase 10
necdin 10
threonine 10
Fukuyama-type congenital muscular dystrophy 10
RAI1 10
gag 10
Cytochrome c 10
fukutin-related protein 10
glucagon 10
SUCLA2 10
SLC16A2 10
Trio 10
desmin 10
fukutin 10
dominant) 10
ubiquinone 9
KMT2D 9
phosphomannomutase 9
BRAF 9
nebulin 9
HYP 9
membrane-bound 9
neurofibromatosis 9
BF2 9
DPAGT1 9
N-acetylaspartate 9
ASD 9
tyrosine hydroxylase 9
NSD1 9
CD59 9
phosphomannomutase 2 9
Succinic semialdehyde dehydrogenase 9
CHRNA7 9
SLC6A8 9
proteasome 9
Prolyl endopeptidase-like 9
GABA transaminase 8
PLA2G6 8
p12 8
adaptor protein 8
p14 8
ADHD 8
pyruvate carboxylase 8
jerky 8
p25 8
DMPK 8
fused 8
VIII 8
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
Down syndrome 113
hyperphagia 113
muscular atrophy 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
apraxia 58
Rett syndrome 58
cataract 56
AMD 55
glaucoma 52
metabolic disorder 51
sleep apnea 51
sensorineural hearing loss 51
peripheral neuropathy 50
mitochondrial disease 50
developmental disabilities 49
Angelman syndrome 48
hypertension 48
hernia 47
gastroesophageal reflux disease 46
blindness 46
heart failure 45
obstructive sleep apnea 45
hypothyroidism 45
sepsis 44
malnutrition 44
congenital disorder 44
stroke 42
tumor 42
anemia 41
cancer 41
dysphagia 41
mild mental retardation 41
neutropenia 39
Cohen syndrome 39
pneumonia 39
lissencephaly 39
thrombocytopenia 39
moderate mental retardation 38
sepsis 37
centronuclear myopathy 36
growth hormone deficiency 36
tetraplegia 36
leukodystrophy 36
movement disorder 35
Lowe syndrome 34
rare disease 34
intellectual impairment 33
Ehlers-Danlos syndrome 32
dyskinesia 32
immunodeficiency 32
delayed speech 32
renal failure 32
Dandy-Walker malformation 31
spastic paraplegia 31
retinitis pigmentosa 30
dilated cardiomyopathy 30
West 30
atrial septal defect 30
ventricular septal defect 30
myopia 29
brachycephaly 29
polyneuropathy 28
morbid obesity 27
osteoporosis 27
cutis laxa 27
neuromuscular disorder 27
pachygyria 27
wasting 26
choreoathetosis 26
diplegia 26
FGS 26
dehydration 26
Menkes 25
propionic acidemia 25
hypercalcemia 25
craniosynostosis 25
Nemaline myopathy 25
Wolf-Hirschhorn syndrome 25
cold 25
learning disability 25
rickets 25
KMS 25
stereotypies 24
psychosis 24
GCE 24
neurological disease 24
status epilepticus 24
hyperglycinemia 23
retinopathy 23
blepharophimosis 23
mitochondrial myopathy 23
schizophrenia 23
precocious puberty 22
Sotos syndrome 22
Congenital muscular dystrophy 22
aggression 22
Charcot-Marie-Tooth disease 22
hydronephrosis 21
methylmalonic acidemia 21
hemiparesis 21
intraocular pressure 21
dementia 21
profound mental retardation 21
esotropia 21
akinesia 20
Spinal muscular atrophy 20
ALD 20
Duchenne muscular dystrophy 20
glycogen storage disease 20
cystinuria 20
renal disease 20
encephalitis 20
pulmonary hypertension 20
congenital hypothyroidism 20
Autism 20
Canavan 20
rash 20
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
incoordination 21
collapse 21
hemiplegia 21
pallor 20
stridor 19
athetosis 19
apathy 19
cough 17
drooling 17
anorexia 15
ataxic gait 15
agitation 14
hypercapnia 13
analgesia 13
nausea 13
dizziness 12
abnormal gait 12
abnormal breathing 12
snoring 12
spasm 11
asthenia 11
abdominal pain 11
splenomegaly 11
overweight 10
polyuria 10
benign congenital hypotonia 10
torticollis 9
intention tremor 9
clonus 9
tonic-clonic seizure 9
muscle stiffness 8
myalgia 8
paraparesis 8
syncope 7
catatonia 7
numbness 7
chronic constipation 7
partial seizure 6
hunger 6
polydipsia 6
insomnia 6
paresthesia 6
ketonuria 6
regurgitation 6
vertigo 5
shortness of breath 5
fasciculation 5
dry skin 5
twitching 5
excessive sweating 5
erythema 4
chest pain 4
muscle cramps 4
muscle rigidity 4
angina 4
joint stiffness 4
hypersomnia 4
starvation 4
hoarseness 3
monoplegia 3
eds 3
discomfort 3
cachexia 3
emaciation 3
enuresis 3
nausea and vomiting 3
bradykinesia 3
delayed language development 3
flushing 3
hyperacusis 3
discomfort 3
prominent nose 3
staggering gait 3
bradypnea 2
tense 2
Fatigability 2
hypoproteinemia 2
photophobia 2
tingling 2
exhaustion 2
clubbing 2
low back pain 2
back pain 2
facial droop 2
Extrapyramidal symptoms 2
oliguria 2
Tongue fasciculations 2
sore throat 2
Respiratory abnormalities 2
neck stiffness 2
ENT 2
asterixis 2
respiratory problem 2
Ill 1
hemoptysis 1
arm weakness 1
blurred vision 1
distraction 1
tinnitus 1
visual hallucination 1
Limb weakness 1
wheezing 1
hyperesthesia 1
hypocapnia 1
Flaccid paralysis 1
hypalgesia 1
Catch 1
Floppy 1
DNA marker 1
photopsia 1
inanition 1
lassitude 1
blepharospasm 1
brittle nails 1
Ataxic 1
prostration 1
tonic seizure 1
Intermittent fever 1
Hyperirritability 1
dysesthesia 1
meningism 1
chromosome marker 1
dyslalia 1
nasal congestion 1
Pyramidal signs 1
neuralgia 1
Hyperekplexia 1
physical appearance 1
more...
Drug
CSF 46
lysine 32
NADH 22
Dermatol 13
Vitamin B12 11
BH4 9
citric acid 7
DM1 7
Growth hormone 7
Growth hormone 6
Vitamin B 6
MDS 5
ascorbate 5
Glucagon 4
Cobalamin 4
Sinemet 4
Posture 4
vitamin E 4
Clonidine 3
HCG 3
caffeine 3
lactose 3
Azithromycin 3
Portal 3
SF6 3
Cardiovasc 3
Carbidopa 3
Zmax 3
Spectrum 3
Spectrum 3
pyridoxal phosphate 3
ADM 3
OTC 2
CaCl2 2
Dial 2
Scopolamine 2
OTC 2
Lioresal 2
Pro-Banthine 2
Nephron 2
ENT 2
Miglustat 2
FAD 2
CaCl2 2
CaCl2 2
Apomorphine 2
PCB 2
9-THC 2
HCH 1
CTA 1
Pramipexole 1
DMAP 1
Adenosine deaminase 1
Perindopril 1
DPA 1
Guanidine 1
GVG 1
Lomotil 1
Bayer 1
MgSO4 1
Meconium 1
Flurbiprofen axetil 1
Mestinon 1
Eculizumab 1
Somatropin 1
Indomethacin 1
TEL 1
ampicillin 1
Frontal 1
Galactose 1
NLF 1
Dakar 1
Asthma 1
Bromisoval 1
Xanthium 1
C3F8 1
Tao 1
Monit 1
Pyridostigmine bromide 1
Dantrolene sodium 1
Thyradin 1
Indocid 1
Sodium benzoate 1
Orion 1
NovoSeven 1
Ipratropium bromide 1
Aldurazyme 1
MAP 1
Brotizolam 1
Rocuronium 1
Lugol 1
Sinemet 1
Myozyme 1
Liraglutide 1
Sinemet 1
Sucralfate 1
DMI 1
Norplant 1
TTC 1
Guanidine 1
DMSA 1
Ringer's solution 1
Cinnarizine 1
Magnesium sulfate 1
Histamine 1
Bupivacaine 1
Clofibrate 1
Vicryl 1
Colistin 1
CTC 1
Lomotil 1
Vitamin E 1
Dihydroergotamine 1
TAC 1
Dexon 1
Talwin 1
Riboflavin 1
Lithium citrate 1
Viagra 1
Medetomidine 1
Pramipexole 1
VCR 1
Ipecac 1
Aldurazyme 1
Buscopan 1
nitroglycerin 1
Honey 1
Adriamycin 1
Talwin 1
Leucovorin 1
p75 1
ABC 1
EDR 1
Diurnal 1
IL-2 1
Paraffin 1
Prednisone 1
niacin 1
PTH 1
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
glutaryl-CoA dehydrogenase 11
diaphorase 11
ceruloplasmin 11
acyl-CoA dehydrogenase 11
pyruvate carboxylase 10
sulfatase 10
lysyl hydroxylase 10
protein kinase 10
phosphomannomutase 10
glucoamylase 9
glycine decarboxylase 9
aspartate aminotransferase 9
acetylcholinesterase 9
fumarase 9
monoamine oxidase 9
alanine aminotransferase 9
proteasome 9
GABA transaminase 8
ATP synthase 8
phosphorylase 8
succinic semialdehyde dehydrogenase 8
superoxide dismutase 8
APC 7
GTP cyclohydrolase I 7
beta-galactosidase 7
3-hydroxyacyl-CoA dehydrogenase 7
methylmalonyl-CoA mutase 7
renin 7
ERK 7
glutathione peroxidase 7
lactate dehydrogenase 7
adenylosuccinate lyase 7
MEK 7
acyl-CoA oxidase 6
methionine synthase 6
sepiapterin reductase 6
3-hydroxyacyl-CoA dehydrogenase 6
hexosaminidase 6
CPR 6
spermine synthase 6
alpha-ketoglutarate dehydrogenase 6
RNA polymerase 6
arylsulfatase A 6
propionyl-CoA carboxylase 6
methionine synthase 6
citrate synthase 5
methylenetetrahydrofolate reductase 5
propionyl-CoA carboxylase 5
sulfite oxidase 5
guanidinoacetate methyltransferase 5
ECH 5
tyrosine hydroxylase 5
dihydropteridine reductase 5
dihydroxyacetone phosphate acyltransferase 5
CPT 5
sulfite oxidase 5
methylenetetrahydrofolate reductase 5
glutamate dehydrogenase 5
glutamate dehydrogenase 5
glutamate dehydrogenase 5
PRPP synthetase 5
pyruvate decarboxylase 4
S-adenosyl-L-homocysteine hydrolase 4
methylcrotonyl-CoA carboxylase 4
galactocerebrosidase 4
choline acetyltransferase 4
prolyl endopeptidase 4
phenylalanine hydroxylase 4
focal adhesion kinase 4
NADH dehydrogenase 4
diaphorase 4
neuraminidase 4
ACE 4
glucose-6-phosphate dehydrogenase 4
ornithine transcarbamylase 4
TPP 4
cholinesterase 4
3-hydroxy-3-methylglutaryl-CoA lyase 4
glutathione reductase 3
AST 3
phosphofructokinase 3
adenosine deaminase 3
kinesin 3
calcineurin 3
aromatic L-amino acid decarboxylase 3
acid phosphatase 3
hyaluronidase 3
deoxyguanosine kinase 3
N-acetylglucosaminyltransferase 3
glycerol kinase 3
caspase-3 3
hypoxanthine-guanine phosphoribosyltransferase 3
KAT 3
phenylalanyl-tRNA synthetase 3
aldolase 3
adenosine deaminase 3
glycine amidinotransferase 2
sialidase 2
glucose-6-phosphatase 2
transketolase 2
phosphomannose isomerase 2
3-hydroxyisobutyryl-CoA hydrolase 2
transaldolase 2
lysyl-tRNA synthetase 2
DOPA decarboxylase 2
HCS 2
adenosine kinase 2
dihydropyrimidine dehydrogenase 2
glucosylceramide synthase 2
transglutaminase 2
fumarylacetoacetate hydrolase 2
TPP 2
Alternating 2
CPS 2
tripeptidyl peptidase 2
ribonucleotide reductase 2
ribonucleotide reductase 2
dihydropyrimidine dehydrogenase 2
glucocerebrosidase 2
alcohol dehydrogenase 2
hyaluronidase 2
mannanase 2
malonyl-CoA decarboxylase 2
electron transfer flavoprotein dehydrogenase 2
elastase 2
aconitase 2
demethylase 2
DNA polymerase 2
BIS 2
ADH 2
glycerate kinase 2
glutathione S-transferase 2
PDH 2
arginyl-tRNA synthetase 2
AMP deaminase 2
carboxypeptidase Y 2
iduronate-2-sulfatase 2
DNA methyltransferase 2
prolyl hydroxylase 2
deaminase 2
spermidine synthase 2
chondroitinase 2
mevalonate kinase 2
oligopeptidase B 2
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
gamma-aminobutyric acid 31
glutamate 31
A 3 31
leucine 31
CoA 29
GABA 29
GABA 28
galactose 28
alanine 27
copper 26
potassium 26
methionine 24
tyrosine 23
NADH 22
ammonia 22
iron 21
Phe 21
homocysteine 20
creatinine 20
vitamin D 19
sulfate 19
GTP 19
N-acetylaspartate 18
serine 18
CO2 18
urea 17
Cardiol 17
glutamine 17
MCA 16
MCA 16
ACTH 16
Ile 16
zinc 16
L-carnitine 16
isoleucine 16
isoleucine 15
valine 15
A 1 15
glutamic acid 14
TSH 14
threonine 14
Guo 13
Guo 13
Thyroid 13
barium 13
ubiquinone 12
Gly 12
SDS 12
5-hydroxytryptophan 11
coenzyme Q10 11
GlcNAc 11
noradrenaline 10
hydrogen 10
Cytochrome c 10
nicotinamide 10
phosphorus 10
proline 10
salt 10
ornithine 9
2-oxoglutarate 9
pyrimidine 9
ornithine 9
cysteine 9
betaine 9
ornithine 9
pyrimidine 9
ornithine 9
Asp 9
5-HT 9
ornithine 9
adenosylmethionine 8
DMD 8
PAS 8
hydroxyindoleacetic acid 8
Baclofen 8
N-acetylaspartic acid 8
hydroxyglutarate 8
tryptophan 8
N-acetylaspartic acid 8
tryptophan 8
tryptophan 8
tryptophan 8
folinic acid 8
bromide 7
GA1 7
NMDA 7
neopterin 7
gamma-hydroxybutyric acid 7
3-hydroxyisovaleric acid 7
Neuronal 7
ethanol 7
Mg2+ 6
aspartic acid 6
nitrogen 6
Lactate 6
acetate 6
L-DOPA 6
GDP 6
aluminum 6
nitric oxide 6
ADP 6
ASA 6
Sudan I 5
DDC 5
S-adenosylhomocysteine 5
DDC 5
aspartic acid 5
ADP 5
Vitamin D 5
phosphocreatine 5
Coenzyme Q10 5
molybdenum 5
aldosterone 5
GM2 5
DDC 5
fluorine 5
iodine 5
ADP 5
silver 5
CAT 5
Lithium 4
Collagen 4
Insulin 4
CAT 4
CoQ 4
EDS 4
CAT 4
manganese 4
Clonazepam 4
Glucagon 4
Dopamine 4
6-12 4
COX 4
acetyl-CoA 4
Lip 4
malonyl-CoA 4
Thiamine 4
Cobalamin 4
aspartic acid 4
NAD 4
Dopa 4
5-HIAA 4
aspartic acid 4
glycerol 4
Biotin 4
HVA 4
DAMP 3
more...