Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
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Human Gene/Protein
FAM149B1 12.4
NDUFV2 protein 12.4
microtubule associated serine/threonine kinase 1 12.4
MRPS14 12.4
COX7a-related protein 12.4
guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 12.4
solute carrier family 25, member 12 12.4
E(sp1) homolog, Drosophila 12.4
GNAO1 protein 12.4
phosphatidylinositol glycan class S 12.4
COX15 homolog 12.4
JBTS6 12.4
LYSMD3 12.4
mediator complex subunit 13-like 12.4
C14orf23 12.4
C2orf34 12.1
PIGK 12.0
PREPL 12.0
purine-rich element binding protein A 11.7
Prolyl endopeptidase-like 11.7
AHDC1 11.6
PRR12 11.4
FAM36A 11.4
patched domain containing 1 11.4
CCDC47 11.4
ZDHHC23 11.4
SCO cytochrome oxidase deficient homolog 2 (yeast) 11.4
RASGEF1B 11.4
SERAC1 protein 11.4
ORC4L 11.4
DBX2 11.4
low molecular mass ubiquinone-binding protein 11.4
EARS2 protein 11.4
MGC57346 11.4
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 11.4
TMEM160 11.4
COPS4 11.4
peptide chain release factor 3 11.4
UNC80 11.2
ATAD3A protein 11.1
LMOD3 11.0
PIBF1 11.0
IOSCA 11.0
ENOPH1 11.0
galactosidase, beta 1 10.8
B9 protein 10.8
RACGAP1P 10.8
OCRL-1 protein 10.8
KIAA1715 10.8
Sepiapterin Reductase 10.8
PIGT 10.8
Phosphoribosyl pyrophosphate synthetase 1 10.8
LOC440944 10.8
MTMR10 10.8
LYPD6B 10.8
OGDH protein 10.8
THUMPD3 10.8
KIAA2018 10.8
F-box and leucine-rich repeat protein 4 10.8
Netrin-G2 10.8
PIGN 10.7
HIBCH 10.7
SMAX2 10.7
TBCK 10.7
KIAA0753 10.6
TMTC3 10.6
KIAA1267 10.6
AP4B1 10.6
OTUD7A 10.5
CMTX5 10.5
FBXL4 10.5
C11orf83 10.4
PIGU 10.4
asparagine-linked glycosylation 6 10.4
HNRPU 10.4
ARALAR 10.4
EFCAB2 10.4
RBM10 protein 10.4
nebulin-related anchoring protein 10.4
TMEM161B 10.4
more...
Disease
Symmetrical growth retardation 12.4
CDG Ik 12.4
Gaze palsy 12.4
Pituitary coma 12.4
Motor speech disorder 12.4
CMD1C 12.4
NPHP1, DEL 12.4
Muscle tone abnormalities 12.4
D-Glyceric aciduria 12.4
CDG Im 12.4
WARBM 12.4
JBTS6 12.4
Deficiency of enoyl-CoA hydratase 12.4
SMAX2 12.0
FGS2 11.7
Fumarase deficiency 11.7
congenital muscle disorder 11.5
Cobalamin C disease 11.4
partial monosomy 8q 11.4
cerebellotrigeminal and focal dermal dysplasia 11.4
CDG Ic 11.4
CMD1D 11.4
lysinemia 11.4
Thyrotoxic myopathy 11.4
Neurodevelopmental disorder 11.4
Organic aciduria 11.4
Congenital cerebellar ataxia 11.4
Adenylosuccinate lyase deficiency 11.4
Glossoptosis 11.4
IOSCA 11.2
CDG Ix 11.2
Neuhauser syndrome 11.1
floppy baby syndrome 11.0
Toriello-Carey syndrome 11.0
uniparental disomy of chromosome 14 10.9
Hyper-beta-alaninemia 10.8
Smith-Fineman-Myers syndrome 10.8
EDS VIB 10.8
Transverse sinus thrombosis 10.8
Infantile botulism 10.8
Congenital myotonic dystrophy 10.8
Anterior horn cell disease 10.8
neurofaciodigitorenal syndrome 10.8
r(18) syndrome 10.8
Congenital fiber type disproportion 10.7
CMTX5 10.7
tetrasomy 15q 10.7
de Barsy syndrome 10.6
Congenital muscular dystrophy 10.6
Gillespie syndrome 10.5
Cohen syndrome 10.4
Disorders of mitochondrial metabolism 10.4
Cytochrome c oxidase deficiency 10.4
cerebro-oculo-muscular syndrome 10.4
SMAX3 10.4
inverted duplication of chromosome 15 10.4
Sopor 10.4
NALD 10.3
Joubert syndrome 10.3
DFN2 10.2
CMD1A 10.2
PCH1 10.2
14q deletion syndrome 10.2
Allan-Herndon-Dudley syndrome 10.2
CDG Ia 10.2
EDS VI 10.2
SCAR8 10.1
Nemaline myopathy 10.1
partial trisomy 19p 10.1
Congenital hyperthyroidism 10.1
Fatty acid oxidation defects 10.1
fetal trimethadione syndrome 10.1
glutamate formiminotransferase deficiency 10.1
Ataxic dysarthria 10.1
Complex II deficiency 10.1
CISS2 10.1
penta-X syndrome 10.1
Alternating hemiplegia 10.1
Sepiapterin reductase deficiency 10.1
FGS 10.0
more...
Symptom
hypotonia 12.4
Abnormal muscle tone 12.4
benign congenital hypotonia 11.6
Tongue fasciculations 11.1
Hyperirritability 10.8
abnormal head movement 10.4
Dysdiadochokinesis 10.1
Respiratory abnormalities 9.0
Intermittent fever 8.7
hypertonia 8.7
athetosis 8.6
Sensory ataxia 8.3
Hypersomnolence 8.3
abnormal breathing 8.2
Limb weakness 8.2
Flaccid paralysis 8.2
waxy flexibility 8.2
dyslalia 7.9
staggering gait 7.9
Pyramidal signs 7.8
clumsiness 7.8
prominent nose 7.6
cold sweats 7.6
delayed language development 7.6
Floppy 7.5
Fatigability 7.4
spasticity 7.3
monoplegia 7.2
ataxic gait 7.2
ataxia 7.2
intention tremor 7.1
drooling 7.1
lethargy 7.0
respiratory problem 6.7
chorea 6.7
dysarthria 6.6
cerebellar ataxia 6.5
weakness 6.5
General symptoms 6.5
facial droop 6.4
brittle nails 6.4
Skin symptoms 6.3
hepatomegaly 6.3
Ataxic 6.3
dystonia 6.2
ophthalmoplegia 6.2
seizures 6.1
clonus 6.1
Hyperekplexia 6.0
incoordination 6.0
Parkinsonian tremor 6.0
hepatosplenomegaly 6.0
cyanosis 6.0
ketonuria 5.9
Crawling 5.9
abnormal gait 5.9
Extrapyramidal symptoms 5.8
bradypnea 5.8
asterixis 5.7
partial seizure 5.6
tachypnea 5.6
excessive sweating 5.6
Macula 5.5
hyperacusis 5.5
stridor 5.5
pallor 5.4
myoclonus 5.4
photopsia 5.4
constipation 5.3
chromosome marker 5.3
tonic-clonic seizure 5.2
muscle stiffness 5.2
startle reaction 5.2
catatonia 5.1
respiratory distress 5.1
hypalgesia 5.0
torticollis 4.9
chronic constipation 4.9
arm weakness 4.9
hemiplegia 4.8
more...
Drug
Lithium citrate 10.8
Bromisoval 10.4
Pro-Banthine 9.9
Thyradin 9.4
Flurbiprofen axetil 8.7
Aldurazyme 8.2
Aldurazyme 8.2
Lioresal 7.8
Talwin 7.7
Myozyme 7.6
Mestinon 7.4
Ipecac 7.2
Lomotil 7.2
Lomotil 7.2
Talwin 7.0
Somatropin 6.9
Miglustat 6.8
Carbidopa 6.6
Brotizolam 6.4
Cobalamin 6.3
Pyridostigmine bromide 6.2
Buscopan 6.1
Indocid 6.0
Zmax 6.0
Sodium benzoate 5.8
Dantrolene sodium 5.6
Vitamin B12 5.6
Cinnarizine 5.6
Sinemet 5.3
C3F8 5.3
Rocuronium 5.2
NLF 5.1
GVG 5.1
BH4 5.0
Dihydroergotamine 4.9
Medetomidine 4.7
Pramipexole 4.7
Vitamin B 4.7
Ipratropium bromide 4.7
Pramipexole 4.7
Sinemet 4.6
DM1 4.6
Sinemet 4.5
Magnesium sulfate 4.4
Sucralfate 4.3
SF6 4.2
NovoSeven 4.1
EDR 4.1
Dexon 4.1
Meconium 4.0
Perindopril 4.0
Guanidine 4.0
Guanidine 4.0
Eculizumab 4.0
OTC 3.9
Tao 3.8
Lugol 3.8
Azithromycin 3.7
Growth hormone 3.6
Liraglutide 3.6
MDS 3.6
Orion 3.5
Growth hormone 3.5
Leucovorin 3.4
OTC 3.4
Vicryl 3.3
Clofibrate 3.3
Viagra 3.2
Apomorphine 3.1
Scopolamine 3.1
CSF 3.0
Colistin 3.0
Adenosine deaminase 3.0
DMSA 2.9
Bupivacaine 2.8
Riboflavin 2.8
TEL 2.8
Clonidine 2.8
Xanthium 2.7
pyridoxal phosphate 2.7
more...
Enzyme
phosphatidylinositol N-acetylglucosaminyltransferase 10.4
ribonuclease alpha 9.6
methylglutaconyl coenzyme A hydratase 9.2
3-hydroxyisobutyryl-CoA hydrolase 8.9
galactosyltransferase II 8.8
mannosyl-oligosaccharide glucosidase 8.8
pterin-4alpha-carbinolamine dehydratase 8.8
branched-chain acyl-CoA dehydrogenase 8.7
aspartoacylase 8.6
EC 2.4.99.4 8.5
dihydroxyacetone phosphate acyltransferase 8.4
biotinidase 8.3
3-hydroxy-3-methylglutaryl-CoA lyase 8.1
glutaryl-CoA dehydrogenase 8.1
methylcrotonyl-CoA carboxylase 7.9
phosphomannomutase 7.8
alkylglycerol monooxygenase 7.8
lysyl hydroxylase 7.8
adenylosuccinate lyase 7.7
electron transfer flavoprotein dehydrogenase 7.7
guanidinoacetate methyltransferase 7.6
AIR synthetase 7.6
spermine synthase 7.5
2-oxoglutarate decarboxylase 7.5
sepiapterin reductase 7.5
glycerate kinase 7.3
succinic semialdehyde dehydrogenase 7.2
sulfur dioxygenase 7.2
fucokinase 7.1
beta-ureidopropionase 7.1
long-chain acyl-coenzyme A dehydrogenase 7.0
6-pyruvoyltetrahydropterin synthase 6.9
deoxyguanosine kinase 6.8
PRPP synthetase 6.8
dihydroxyacetone-phosphate acyltransferase 6.8
acylglycerol kinase 6.7
branching enzyme 6.7
propionyl-CoA carboxylase 6.6
serum carnosinase 6.6
methylmalonyl-CoA mutase 6.6
phosphoinositide 5-phosphatase 6.5
N-acetylglucosaminyltransferase II 6.5
ethanolamine kinase 6.5
glycine decarboxylase 6.4
oligopeptidase B 6.4
S-adenosyl-L-homocysteine hydrolase 6.3
propionyl-CoA carboxylase 6.3
arginyl-tRNA synthetase 6.3
tripeptidyl peptidase 6.3
acyl-CoA dehydrogenase 6.3
galactosyltransferase I 6.2
malonyl-CoA decarboxylase 6.2
acyl-CoA dehydrogenase 6.2
glycine amidinotransferase 6.1
dihydropteridine reductase 6.1
splicing endonuclease 6.0
butyryl-CoA dehydrogenase 6.0
sulfite oxidase 5.9
pyruvate dehydrogenase phosphatase 5.9
isovaleryl-CoA dehydrogenase 5.9
GTP cyclohydrolase I 5.9
sulfite oxidase 5.8
3-hydroxyacyl-CoA dehydrogenase 5.8
thiamine pyrophosphokinase 5.8
GABA transaminase 5.7
prolyl-tRNA synthetase 5.7
arylsulfatase A 5.7
galactocerebrosidase 5.7
aspartylglucosaminidase 5.6
alpha-methylacyl-CoA racemase 5.6
3-hydroxyacyl-CoA dehydrogenase 5.6
phenylalanyl-tRNA synthetase 5.5
iduronate-2-sulfatase 5.5
LTC4 synthase 5.5
carnosinase 5.5
fumarase 5.4
T-protein 5.4
pyruvate dehydrogenase 5.3
lysyl-tRNA synthetase 5.3
methionine synthase 5.3
more...
Compound
3-hydroxy-isobutyryl-CoA 12.4
Succinyladenosine 10.8
C6H10O4 9.8
N-acetylaspartic acid 9.4
N-acetylaspartic acid 9.3
Diphenoxylate 8.6
3-O-Methyldopa 8.2
3-hydroxyisovaleric acid 7.8
Guanidinoacetic acid 7.5
2-phenyl-1,3-propanediol 7.4
6-pyruvoyltetrahydropterin 7.4
S-sulfocysteine 7.3
DHCA 7.3
URP 7.2
Succinyl-CoA 7.1
3-methylcrotonyl-CoA 7.1
SAICAR 7.1
propionyl-coenzyme A 7.0
Pipecolic acid 6.8
hexacosanoic acid 6.7
Hydroxylysine 6.7
Monastral Blue 6.6
adenylosuccinate 6.5
Pterin 6.4
Cobalamin 6.3
CLTC 6.3
piperidine-2-carboxylic acid 6.3
GA1 6.3
Clobazam 6.2
ABPP 6.0
Pyridostigmine 6.0
DDC 6.0
DDC 6.0
Dantrolene sodium 5.9
Hydroxocobalamin 5.9
gamma-hydroxybutyric acid 5.8
2,5-dichlorophenol 5.8
4-oxobutanoic acid 5.8
erythrose-4-phosphate 5.7
Maprotiline 5.7
Succinylcholine 5.7
Sudan I 5.7
suberic acid 5.7
2-oxoadipate 5.6
Clonazepam 5.6
DPM 5.6
Relaxant 5.6
Tetrahydrobiopterin 5.5
hydroxyglutarate 5.5
Triphosphate 5.5
dolichyl-phosphate 5.5
Pyridoxine 5.4
Rocuronium 5.4
Felbamate 5.3
DMD 5.3
2-Oxoglutarate 5.2
Dolichol 5.2
MAOA 5.2
Baclofen 5.2
decarboxylated S-adenosylmethionine 5.2
pyrroline-5-carboxylate 5.1
Dextromethorphan 5.1
COA 5.1
Ethosuximide 5.1
glutaryl-CoA 5.0
Desflurane 5.0
Ziprasidone 5.0
DDC 4.9
Vigabatrin 4.9
N-acetylaspartate 4.9
P 2 4.9
N-Acetylglucosamine 4.9
MCA 4.8
MCA 4.8
Oxcarbazepine 4.8
Cytochrome c 4.8
MGA 4.8
Dantrolene 4.8
10-formyltetrahydrofolate 4.7
Arecoline 4.7
more...