UMLS:C0424605 - FACTA Search

Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0424605 (developmental delay)
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Human Gene/Protein
C14orf23	11.9
SET domain containing 5	11.9
mediator complex subunit 13-like	11.9
praja 1	11.9
TBR1 protein	11.9
C1orf99	11.9
phosphatidylinositol glycan class S	11.9
TMEM14E	11.9
ADAM metallopeptidase domain 23	11.9
WDR37 protein	11.9
SSX9	11.9
chromosome 6 open reading frame 70	11.9
FAM149B1	11.9
BCKDK protein	11.9
microtubule associated serine/threonine kinase 1	11.9
COX7a-related protein	11.9
T-cell lymphoma breakpoint-associated target 1	11.9
SEC8L1	11.9
THG1L	11.9
N-ethylmaleimide-sensitive factor attachment protein, beta	11.9
ATPase type 13A4	11.9
beta 1,3-galactosyltransferase-like	11.9
UNQ6114	11.9
QRICH1 protein	11.9
Growth arrest-specific 7	11.9
TMEM94	11.9
JBTS6	11.9
PIGK	11.5
AHDC1	11.3
QRICH1	11.3
ADP-ribosylation factor guanine nucleotide-exchange factor 2	11.3
purine-rich element binding protein A	11.2
KIAA0461	10.9
ZNF30	10.9
MGC57346	10.9
CRALBPL	10.9
STMN4	10.9
ZNF541	10.9
PARS2	10.9
METTL2	10.9

Disease
Urocanic aciduria	11.9
macrocephaly-cutis marmorata telangiectatica congenita syndrome	11.9
Central nervous system vascular disorders	11.9
7p partial trisomy syndrome	11.9
CMD1O	11.9
MCPHA	11.9
NPHP1, DEL	11.9
Congenital fascial dystrophy	11.9
CDG Ik	11.9
CDG Im	11.9
Motor speech disorder	11.9
developmental delay	11.9
JBTS6	11.9
Hypotonic cerebral palsy	11.9
Deficiency of ribose-5-phosphate isomerase	11.9
M-CMTC	11.5
DEND	11.4
partial monosomy 8q	10.9
Neurodevelopmental disorder	10.9
Fitzsimmons syndrome	10.9
Hyperpipecolic acidemia	10.9
Sabinas syndrome	10.9
CDG Ie	10.9
Say-Meyer syndrome	10.9
Low frustration tolerance	10.9
Mutchinick syndrome	10.9
Fine-Lubinsky syndrome	10.9
CDG Ix	10.7
KBG syndrome	10.6
WHSCR2	10.6
Congenital hyperthyroidism	10.6
10q deletion syndrome	10.5
XLIS	10.4
Partial agenesis of corpus callosum	10.3
BDMR	10.3
WHSCR	10.3
LACH	10.3
Excessive skin	10.3
6p deletion syndrome	10.3
Camptomelic dysplasia	10.3

Symptom
hypotonia	9.6
prominent nose	9.3
jaundice of the skin	7.9
Todd's paralysis	7.5
ataxic gait	7.5
dyslalia	7.4
Pyramidal signs	7.3
Poor weight gain	7.3
abnormal breathing	7.2
delayed language development	7.1
hypertonia	7.0
brittle nails	6.9
Hyperekplexia	6.5
spasticity	6.5
ataxia	6.5
peau d'orange	6.4
clumsiness	6.2
seizures	6.1
General symptoms	6.0
Joint hypermobility	6.0
impaired motor coordination	5.9
athetosis	5.9
Ataxic	5.8
staggering gait	5.8
cerebellar ataxia	5.7
bedwetting	5.7
drooling	5.7
feeling tired	5.6
dystonia	5.6
Physical findings	5.6
scaly skin	5.5
Spastic	5.5
dysarthria	5.4
pachyonychia	5.4
Crawling	5.4
respiratory problem	5.3
incoordination	5.2
pedal edema	5.2
infant diarrhea	5.2
phosphatemia	5.2

Drug
Flurbiprofen axetil	8.2
Sapropterin dihydrochloride	7.6
Cobalamin	7.6
Myozyme	7.1
Versed	6.9
Demerol	6.5
Demerol	5.9
Pyridoxamine	5.7
Vitamin B12	5.6
Dormicum	5.3
Miglustat	5.3
Sodium valproate	5.2
Vitamin B	5.1
Carbidopa	4.6
Flavopiridol	4.2
Xylocaine	4.2
Cytidine	4.1
Prozac	4.0
Xylocaine	3.9
ID2	3.8
Spectrum	3.7
BH4	3.7
EDR	3.6
Meconium	3.6
DEL	3.5
Xylocaine	3.5
Piracetam	3.5
OTC	3.4
Tao	3.4
ISP	3.0
Leucovorin	2.9
OTC	2.9
Sinemet	2.9
Simvastatin	2.8
Spectrum	2.8
DMAP	2.8
BTC	2.7
CSF	2.7
BLM	2.5
Adenosine deaminase	2.5

Enzyme
phosphatidylinositol N-acetylglucosaminyltransferase	9.9
mannosyl-oligosaccharide glucosidase	9.3
3-hydroxyisobutyryl-CoA hydrolase	9.0
5,10-methenyltetrahydrofolate synthetase	9.0
methylglutaconyl coenzyme A hydratase	8.8
branched-chain acyl-CoA dehydrogenase	8.2
guanidinoacetate methyltransferase	8.0
glutamate formiminotransferase	7.9
tRNA isopentenyltransferase	7.8
biotinidase	7.7
adenylosuccinate lyase	7.5
alkylglycerol monooxygenase	7.3
glutaryl-CoA dehydrogenase	7.2
dihydroxyacetone phosphate acyltransferase	7.2
N-acetylglucosaminylphosphotransferase	7.2
aspartoacylase	7.2
arginyl-tRNA synthetase	7.1
DNA 3'-phosphatase	7.1
malonyl-CoA decarboxylase	7.1
phosphomannomutase	6.8
N-sulfoglucosamine sulfohydrolase	6.8
sulfur dioxygenase	6.7
3-hydroxyisobutyrate dehydrogenase	6.6
glycine amidinotransferase	6.6
beta-ureidopropionase	6.6
methionine synthase reductase	6.6
methionyl-tRNA formyltransferase	6.5
sepiapterin reductase	6.4
dihydroxyacetone-phosphate acyltransferase	6.3
prolyl-tRNA synthetase	6.3
sarcosine dehydrogenase	6.1
serum carnosinase	6.1
succinic semialdehyde dehydrogenase	6.0
PRPP synthetase	6.0
urocanase	6.0
deoxyhypusine hydroxylase	5.9
methylmalonyl-CoA mutase	5.9
glycerate kinase	5.8
sulfite oxidase	5.7
sulfite oxidase	5.6

Compound
3-hydroxy-isobutyryl-CoA	11.9
Copper 8-hydroxyquinoline	9.6
C6H10O4	9.3
2-methyl-3-hydroxybutyryl-CoA	8.9
Guanidinoacetic acid	8.7
Spartin	8.3
3-O-Methyldopa	7.8
SAICAR	7.6
Cobalamin	7.6
PQM	7.4
Potassium bromide	7.1
5,10-Methylenetetrahydrofolate	6.9
N-acetylaspartic acid	6.9
Homocarnosine	6.9
Glutaric acid	6.8
Argininosuccinate	6.8
3-hydroxyisovaleric acid	6.8
S-sulfocysteine	6.8
Metaraminol	6.8
N-acetylaspartic acid	6.8
Molybdenum cofactor	6.5
Pyridoxine	6.4
BNS	6.2
Phenergan	6.2
Methionine enkephalin	6.1
adenylosuccinate	6.0
Cyanocobalamin	5.9
5,10-methylene-THF	5.9
CLTC	5.9
Phloroglucinol	5.8
Methylmalonic acid	5.8
DDC	5.8
DDC	5.7
Pyridoxamine	5.7
Phloroglucinol	5.7
MEV	5.7
Carbimazole	5.6
Succinyl-CoA	5.6
isovaline	5.6
Sudan I	5.4