Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013080 (Down syndrome)
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Human Gene/Protein
PWP2H 11.1
PRED34 11.1
DSCR8 11.1
ZNF298 11.1
WDR9 11.1
C21orf7 11.1
C21orf66 11.1
LAMNB1 11.1
C21orf51 11.1
C21orf4 11.1
DCRB 11.1
C21orf42 11.1
transmembrane protein 50B 11.1
PRED54 11.1
C21orf69 11.1
C21orf24 11.1
ZBTB21 11.1
CAF1A 11.1
DSCR10 11.1
KIAA0136 11.1
TPRD 10.9
DSCR4 10.8
KIR4.2 10.8
PLAC4 10.6
TMEM50B 10.5
TMEM131 10.5
KIAA0179 10.5
DSCR1 10.4
TTC3 10.4
C21orf5 10.4
GARS-AIRS-GART 10.3
chromosome 21 10.3
SH3BGR 10.3
ubiquitin specific peptidase 25 10.1
tryptophan rich basic protein 10.1
UMODL1 10.1
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 10.1
DSCR1 protein 10.1
SNAPC3 10.1
DCRA 10.1
tetratricopeptide repeat domain 3 10.1
DSCR3 10.1
mnb 10.1
Contactin 5 10.1
HLP2 10.1
C21orf63 10.1
KIAA0958 10.1
TMEM1 10.1
C21orf57 10.1
KIAA0184 10.1
KSP37 10.1
Mrps18a 10.1
KIAA1185 10.1
GCFC 10.1
congenital heart disease 5 protein 10.1
DYRK1A 10.0
ZAKI-4 10.0
PDXK 10.0
ZNF295 9.9
CRELD1 9.9
Pbx regulating protein 1 9.8
DSCR1L2 9.8
DSCR 9.8
G protein-coupled inward rectifier potassium channel 9.5
septin 11 9.5
DSCR6 9.5
Intersectin-1 9.5
ZNF294 9.5
PRR4 9.5
PTD004 9.5
C21orf58 9.5
C21orf70 9.5
Ribosomal protein L15 9.5
periodic tryptophan protein 2 9.5
KNP1 9.5
BAGE2 9.5
GARS protein 9.5
EBF4 9.5
DSCAM 9.5
OTT-MAL 9.4
more...
Disease
untreated childhood AML 11.1
Fetal chromosomal abnormality 11.1
pediatric acute megakaryocytic leukemia 11.1
Myeloproliferative Disease 11.1
adult acute megakaryoblastic leukemia (M7) 11.1
Down syndrome 11.1
keratoconus; congenital 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
Dysfluency 8.8
Esophageal atresia/tracheoesophageal fistula 8.8
partial monosomy 21q 8.7
Congenital Malformation 8.6
trisomy 8.6
TMD 8.5
HCHWA 8.5
Parkinson-dementia complex of Guam 8.3
Pleomorphic Xanthoastrocytoma 8.3
Idiopathic aplastic anemia 8.3
Basal ganglia calcification 8.3
Compensated hypothyroidism 8.1
1q deletion syndrome 8.1
monosomy 7p 8.1
Trisomy 17 8.1
triploidy 8.0
localized skin infection 8.0
Pyoderma vegetans 7.8
elimination disorder 7.8
Edwards 7.8
XYY syndrome 7.8
DFNB8 7.7
trisomy 2 7.7
septal defect 7.7
trisomy 14 7.7
chromosome disorder 7.7
Sporadic cerebral amyloid angiopathy 7.7
trisomy 12p 7.7
trisomy 15 7.7
trisomy 18q 7.6
streptoccocal 7.5
Blastomycosis-like pyoderma 7.5
49,XXXXY syndrome 7.5
trisomy 22 7.5
Syringomas 7.5
Sex chromosome abnormalities 7.4
Functional asplenia 7.4
Preduodenal portal vein 7.4
4q deletion syndrome 7.4
partial trisomy 5q 7.3
Norwegian scabies 7.3
Congenital chylothorax 7.3
22q deletion syndrome 7.3
congenital aplastic anemia 7.3
Neuronal intestinal dysplasia 7.3
GWC 7.3
leukemoid reaction 7.2
Autistic behavior 7.2
cri-du-chat syndrome 7.2
Secondary immunodeficiency 7.1
partial trisomy 7q 7.1
mental handicap 7.1
Klinefelter's syndrome 7.1
trisomy 9 7.0
Inverse psoriasis 7.0
X-linked hereditary disease 7.0
Williams syndrome 7.0
Ph- CML 7.0
more...
Symptom
Cri du chat 9.3
Flaccidity 8.5
Jitteriness 7.8
Bilious vomiting 7.0
benign congenital hypotonia 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
facial droop 4.2
Joint hypermobility 4.2
chromosome marker 4.0
bedwetting 3.9
hyperemesis 3.9
Stepping 3.9
torticollis 3.8
memory loss 3.8
enuresis 3.6
pachyonychia 3.6
arm weakness 3.6
Neurologic symptoms 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
DNA marker 3.3
cyanosis 3.3
myoclonus 3.2
regurgitation 3.2
clonus 3.2
hypertonia 3.2
chronic constipation 3.1
postnasal drip 3.1
body pain 3.1
HSA 3.0
clumsiness 3.0
ataxic gait 3.0
chorea 2.9
pallor 2.8
Psychiatric symptoms 2.8
tonic-clonic seizure 2.8
hepatomegaly 2.7
CSR 2.7
neck pain 2.7
hyperacusis 2.6
tachypnea 2.6
loss of taste 2.6
physical appearance 2.6
fasciculation 2.4
loss of balance 2.3
Spots 2.3
constipation 2.3
Respiratory symptoms 2.3
dysarthria 2.3
Stiffness 2.2
rundown 2.2
seizures 2.1
joint stiffness 2.1
eds 2.1
ataxia 2.0
ketonuria 2.0
personality change 2.0
respiratory distress 2.0
excessive sweating 2.0
apathy 1.9
more...
Drug
Dibotin 9.1
Thioguanine 6.1
Palivizumab 6.0
CMNX 5.7
Synthroid 5.5
Epigallocatechin 5.3
TEL 5.2
Galanthamine 5.1
Ketalar 5.1
anti-RSV 4.9
Synthroid 4.7
HCG 4.6
Ketalar 4.6
Imuran 4.5
Aricept 4.4
Donepezil 4.3
Clofarabine 4.0
Pyridoxal phosphate 4.0
NLF 3.8
ETS 3.8
Piracetam 3.7
MDS 3.5
Mitomycin-C 3.4
Frontal 3.4
Phosphoramidon 3.4
Glucantime 3.3
Cobalamin 3.1
Spectrum 3.0
CPO 2.9
Urokinase 2.9
Sodium valproate 2.8
AraC 2.7
Cilostazol 2.5
Botox 2.4
Bosentan 2.4
Bosentan 2.4
LCM 2.4
LCM 2.3
Maltose 2.3
Posture 2.2
Prednisone 2.1
Glutamic acid 2.1
Spectrum 2.1
Antithrombin III 2.1
Vicryl 2.1
Misoprostol 2.0
Etoposide 2.0
CED 2.0
Viagra 1.9
CPM 1.9
Digitalis 1.9
FAD 1.9
Vitamin B12 1.9
Vitamin B 1.8
VCR 1.8
Kainic acid 1.8
Depo-Provera 1.8
Vitamin E 1.8
NBT 1.8
IL-1ra 1.7
Tocopherol 1.7
Mutagen 1.6
DMSA 1.6
Growth hormone 1.6
GEO 1.5
DM1 1.5
Activin 1.4
MRC 1.4
Diurnal 1.4
Fraction 1.4
Award 1.4
Parkin 1.3
Parkin 1.3
DDAVP 1.2
DDAVP 1.2
GRF 1.2
Growth hormone 1.2
Portal 1.1
uPA 1.1
Dakar 1.1
more...
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
inositol phosphatase 3.7
3'-phosphatase 3.7
kynurenine aminotransferase 3.7
TSR 3.6
insulin-degrading enzyme 3.6
adenylosuccinate lyase 3.6
neutrophil collagenase 3.6
phosphatidylinositol-4,5-bisphosphate 3-kinase 3.5
thimet oligopeptidase 3.5
calcineurin 3.4
CD13 3.4
phosphatidylethanolamine N-methyltransferase 3.3
adenine phosphoribosyltransferase 3.3
HVS 3.2
pantothenate kinase 3.2
CEP 3.2
N-acetylglucosaminyltransferase 3.2
phosphofructokinase 3.0
biliverdin reductase 3.0
dihydroorotase 3.0
enolase 2.9
phosphoglycerate dehydrogenase 2.8
cytidine deaminase 2.8
Fpg protein 2.7
superoxide dismutase 2.7
monoacylglycerol lipase 2.7
Lys4 2.7
FPS 2.7
oxidosqualene cyclase 2.7
deoxycytidine kinase 2.7
phospholipid hydroperoxide glutathione peroxidase 2.7
ATP sulfurylase 2.7
CEP 2.6
legumain 2.5
biotinidase 2.5
nitrilase 2.5
PMT 2.5
GLO 2.5
succinyl-CoA synthetase 2.5
glutathione peroxidase 2.4
more...
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
Florid 4.0
Efron 4.0
Quinacrine 4.0
TFF 3.9
DBC 3.9
TCN 3.9
Sudan Black B 3.9
3-hydroxyisovaleric acid 3.7
7beta-hydroxycholesterol 3.7
Quinacrine 3.6
Elan 3.6
Kynurenic acid 3.6
Clomiphene 3.6
Ara-C 3.5
8-hydroxyguanosine 3.5
Isoform 3.5
10-formyltetrahydrofolate 3.4
Silver, 3.4
Rivastigmine 3.4
homocysteine 3.4
GBL 3.4
Phosphoramidon 3.4
Acetyl-L-carnitine 3.4
CBS 3.4
hydroxyethylamine 3.3
Elan 3.3
DHF 3.3
Congo red 3.3
Aphidicolin 3.3
Aphidicolin 3.3
GBL 3.2
LTD 3.2
Ara-C 3.1
Allopregnanolone 3.1
Epigallocatechin gallate 3.1
Cobalamin 3.1
Formin 3.1
nonanoic acid 3.0
Chloral hydrate 3.0
nonanoic acid 3.0
more...