UMLS:C0013080 - FACTA Search

Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013080 (Down syndrome)
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Human Gene/Protein
C21orf66	11.1
PRED34	11.1
DSCR10	11.1
C21orf4	11.1
DSCR8	11.1
C21orf51	11.1
C21orf42	11.1
C21orf69	11.1
ZBTB21	11.1
C21orf24	11.1
ZNF298	11.1
WDR9	11.1
LAMNB1	11.1
PRED54	11.1
KIAA0136	11.1
CAF1A	11.1
transmembrane protein 50B	11.1
C21orf7	11.1
DCRB	11.1
PWP2H	11.1
TPRD	10.9
KIR4.2	10.8
DSCR4	10.8
PLAC4	10.6
TMEM50B	10.5
KIAA0179	10.5
TMEM131	10.5
DSCR1	10.4
TTC3	10.4
C21orf5	10.4
GARS-AIRS-GART	10.3
chromosome 21	10.3
SH3BGR	10.3
congenital heart disease 5 protein	10.1
mnb	10.1
DSCR3	10.1
TMEM1	10.1
GCFC	10.1
Contactin 5	10.1
DCRA	10.1

Disease
Myeloproliferative Disease	11.1
Fetal chromosomal abnormality	11.1
Down syndrome	11.1
keratoconus; congenital	11.1
pediatric acute megakaryocytic leukemia	11.1
untreated childhood AML	11.1
adult acute megakaryoblastic leukemia (M7)	11.1
DSCR	10.4
Common atrioventricular canal	10.1
Optic disc hypoplasia	10.1
tetrasomy 21q	10.1
HPE1	9.8
Atlantoaxial instability	9.6
Congenital knee dislocation	9.5
Congenital duodenal stenosis	9.5
Fixation nystagmus	9.5
trisomy 13	9.4
monosomy 21	9.2
Meningococcal conjunctivitis	9.1
Neonatal leukaemia	9.1
megakaryocytic leukemia	9.1
DFNB10	9.0
Esophageal atresia/tracheoesophageal fistula	8.8
Dysfluency	8.8
partial monosomy 21q	8.7
Congenital Malformation	8.6
trisomy	8.6
TMD	8.5
HCHWA	8.5
Pleomorphic Xanthoastrocytoma	8.3
Parkinson-dementia complex of Guam	8.3
Idiopathic aplastic anemia	8.3
Basal ganglia calcification	8.3
Trisomy 17	8.1
1q deletion syndrome	8.1
monosomy 7p	8.1
Compensated hypothyroidism	8.1
triploidy	8.0
localized skin infection	8.0
Pyoderma vegetans	7.8

Symptom
Cri du chat	9.3
Flaccidity	8.5
Jitteriness	7.8
benign congenital hypotonia	7.0
Bilious vomiting	7.0
Eyelid retraction	6.9
Pyramidal signs	6.5
hypotonia	5.4
Multimorbidity	4.8
Behavioral symptoms	4.8
prominent nose	4.8
delayed language development	4.7
Periodic breathing	4.7
gumma	4.6
Crawling	4.6
impaired motor coordination	4.5
hepatosplenomegaly	4.3
drooling	4.3
snoring	4.2
hematocolpos	4.2
Acute urinary retention	4.2
Joint hypermobility	4.2
facial droop	4.2
chromosome marker	4.0
bedwetting	3.9
hyperemesis	3.9
Stepping	3.9
torticollis	3.8
memory loss	3.8
pachyonychia	3.6
enuresis	3.6
Neurologic symptoms	3.6
arm weakness	3.6
stridor	3.5
labored breathing	3.4
tonic seizure	3.4
catatonia	3.3
forgetfulness	3.3
abnormal gait	3.3
Halo	3.3

Enzyme
pregnancy-associated plasma protein-A	8.5
methionine synthase reductase	7.6
AIR synthetase	7.3
coagulation factor XIa	6.9
nardilysin	6.2
neurosin	6.1
inositol polyphosphate 4-phosphatase	6.0
GAR	5.8
CLK1	5.6
6-pyruvoyltetrahydropterin synthase	5.6
dihydroxyacetone-phosphate acyltransferase	5.5
beta-secretase	5.5
glutamine transaminase K	5.5
cystathionine beta-synthase	5.5
PdxH	5.4
methylenetetrahydrofolate dehydrogenase	5.4
methylenetetrahydrofolate reductase	5.2
methylenetetrahydrofolate reductase	5.2
protein methylase II	5.2
methionine synthase	5.1
methionine synthase	5.0
pyridoxal kinase	4.9
methylenetetrahydrofolate dehydrogenase	4.9
3-mercaptopyruvate sulfurtransferase	4.8
PRPP synthetase	4.8
dihydroxyacetone phosphate acyltransferase	4.8
carbonyl reductase	4.7
6-phosphogluconolactonase	4.7
glutaminyl cyclase	4.4
STR	4.4
GTI	4.2
superoxide reductase	4.2
cystathionine gamma-lyase	4.1
dihydropyrimidinase	4.0
7-dehydrocholesterol reductase	4.0
glycinamide ribonucleotide transformylase	3.9
choline acetyltransferase	3.9
betaine-homocysteine methyltransferase	3.8
type 1 protein phosphatase	3.8
homocysteine methyltransferase	3.7

Compound
Butoctamide hydrogen succinate	9.5
MMU	7.6
Melezitose	7.2
Glycerophosphoethanolamine	7.1
Melezitose	7.0
Retard	6.7
NDS	6.6
Harmine	6.2
PAPP	6.0
2-hydroxybutanoic acid	6.0
L-alpha-lysophosphatidylcholine	5.8
PAPP	5.8
2-hydroxybutanoic acid	5.6
CMK	5.5
Xamoterol	5.5
Phorbol-12,13-dibutyrate	5.4
Proflavine	5.4
Glycerophosphocholine	5.3
Cystathionine	5.3
Cystathionine	5.3
TEL	5.2
1H-pyrrolo[2,3-b]pyridine	5.1
Trenimon	5.0
PD 5	5.0
9Z,11E-octadecadienoic acid	4.9
1-amino-1,3-cyclopentanedicarboxylic acid	4.8
CHQ	4.8
Epigallocatechin	4.6
Cyclopamine	4.3
Potassium chloride	4.3
CH3-THF	4.3
T13	4.3
Dibucaine	4.3
MMD	4.2
DBM	4.2
Memantine	4.2
DBM	4.2
6-Thioguanine	4.1
Ural	4.1
AY9944	4.0