UMLS:C0026827 - FACTA Search

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 (0.01 seconds)

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Human Gene/Protein
MRPS14	12.4
E(sp1) homolog, Drosophila	12.4
GNAO1 protein	12.4
COX15 homolog	12.4
C14orf23	12.4
LYSMD3	12.4
COX7a-related protein	12.4
FAM149B1	12.4
phosphatidylinositol glycan class S	12.4
microtubule associated serine/threonine kinase 1	12.4
NDUFV2 protein	12.4
solute carrier family 25, member 12	12.4
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	12.4
mediator complex subunit 13-like	12.4
JBTS6	12.4
C2orf34	12.1
PIGK	12.0
PREPL	12.0
purine-rich element binding protein A	11.7
Prolyl endopeptidase-like	11.7

Disease
Symmetrical growth retardation	12.4
D-Glyceric aciduria	12.4
WARBM	12.4
Muscle tone abnormalities	12.4
Gaze palsy	12.4
CDG Ik	12.4
Deficiency of enoyl-CoA hydratase	12.4
Pituitary coma	12.4
NPHP1, DEL	12.4
CMD1C	12.4
JBTS6	12.4
CDG Im	12.4
Motor speech disorder	12.4
SMAX2	12.0
Fumarase deficiency	11.7
FGS2	11.7
congenital muscle disorder	11.5
Congenital cerebellar ataxia	11.4
Thyrotoxic myopathy	11.4
Adenylosuccinate lyase deficiency	11.4

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
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

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