UMLS:C0026827 - FACTA Search

Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
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Human Gene/Protein
solute carrier family 25, member 12	12.4
mediator complex subunit 13-like	12.4
JBTS6	12.4
GNAO1 protein	12.4
microtubule associated serine/threonine kinase 1	12.4
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	12.4
LYSMD3	12.4
E(sp1) homolog, Drosophila	12.4
COX7a-related protein	12.4
COX15 homolog	12.4
C14orf23	12.4
MRPS14	12.4
NDUFV2 protein	12.4
FAM149B1	12.4
phosphatidylinositol glycan class S	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
SERAC1 protein	11.4
CCDC47	11.4
PRR12	11.4
TMEM160	11.4
COPS4	11.4
EARS2 protein	11.4
FAM36A	11.4
DBX2	11.4
ORC4L	11.4
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	11.4
peptide chain release factor 3	11.4
ZDHHC23	11.4
patched domain containing 1	11.4
low molecular mass ubiquinone-binding protein	11.4
SCO cytochrome oxidase deficient homolog 2 (yeast)	11.4
MGC57346	11.4
RASGEF1B	11.4
UNC80	11.2
ATAD3A protein	11.1

Disease
Muscle tone abnormalities	12.4
CDG Im	12.4
Pituitary coma	12.4
CDG Ik	12.4
D-Glyceric aciduria	12.4
Symmetrical growth retardation	12.4
NPHP1, DEL	12.4
CMD1C	12.4
Motor speech disorder	12.4
WARBM	12.4
Gaze palsy	12.4
Deficiency of enoyl-CoA hydratase	12.4
JBTS6	12.4
SMAX2	12.0
Fumarase deficiency	11.7
FGS2	11.7
congenital muscle disorder	11.5
CMD1D	11.4
Congenital cerebellar ataxia	11.4
partial monosomy 8q	11.4
Thyrotoxic myopathy	11.4
Cobalamin C disease	11.4
CDG Ic	11.4
cerebellotrigeminal and focal dermal dysplasia	11.4
Neurodevelopmental disorder	11.4
Glossoptosis	11.4
Organic aciduria	11.4
lysinemia	11.4
Adenylosuccinate lyase deficiency	11.4
CDG Ix	11.2
IOSCA	11.2
Neuhauser syndrome	11.1
floppy baby syndrome	11.0
Toriello-Carey syndrome	11.0
uniparental disomy of chromosome 14	10.9
Congenital myotonic dystrophy	10.8
EDS VIB	10.8
Infantile botulism	10.8
Anterior horn cell disease	10.8
Hyper-beta-alaninemia	10.8

Symptom
Abnormal muscle tone	12.4
hypotonia	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
Hypersomnolence	8.3
Sensory ataxia	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

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
pterin-4alpha-carbinolamine dehydratase	8.8
mannosyl-oligosaccharide glucosidase	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
beta-ureidopropionase	7.1
fucokinase	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