Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
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Human Gene/Protein
WHSC1 protein 11.0
MRX45 11.0
Cytochrome b5 reductase 3 11.0
MRXS3 11.0
VCX-B1 11.0
NHS protein 11.0
WD repeat-containing protein 81 11.0
RBBP7 protein 11.0
VCX-C 11.0
COX4NB 11.0
praja 1 11.0
MAM domain containing 2 11.0
MRX59 11.0
SYNE1 protein 11.0
FLJ20344 11.0
PAFAH1B3 protein 11.0
tissue plasminogen activator precursor 11.0
LYSMD3 11.0
MORN repeat containing 4 11.0
Phospholipase DDHD2 11.0
LOC442459 11.0
VCX-B 11.0
ZNF271 11.0
CASKIN1 11.0
ADRACALIN 11.0
Homer 1 variant 11.0
NHSL2 11.0
transient receptor potential cation channel, subfamily M, member 3 11.0
OPHN1 protein 11.0
HSA272195 11.0
PIGX 11.0
HADH2 protein 11.0
C14orf23 11.0
glutamate receptor, ionotropic, N-methyl D-aspartate 1 11.0
methyl-CpG binding domain protein 5 11.0
ZNF258 11.0
FLJ25076 11.0
variable charge, X chromosome 11.0
RhoGAP2 11.0
ZNF630 11.0
MRPS14 11.0
GDF10 protein 11.0
C7orf11 10.6
ZNF261 10.6
239FB 10.6
VCX-A 10.6
UHX1 10.4
Dymeclin 10.3
DXS6673E 10.3
MRX30 10.2
MRX9 10.2
FXR2P 10.2
PHD finger protein 8 10.2
IL1RAPL2 10.1
WAGR 10.0
OPHN1 10.0
ZNF252 10.0
TTLL11 10.0
KIAA0215 10.0
SRCAP protein 10.0
oligophrenin 1 10.0
Myosin regulatory light chain interacting protein 10.0
WS-betaTRP 10.0
FACL4 10.0
SNAPC3 10.0
Rho guanine nucleotide exchange factor 6 10.0
TM4SF2 10.0
PEX12 protein 10.0
KIAA0958 10.0
FAM120C 10.0
Microfibril-associated glycoprotein 4 10.0
myosin IXA 10.0
NAP1L3 10.0
ARHGDIG 10.0
X-linked neuroligin 4 10.0
Mrps18a 10.0
HOPA 10.0
SCO cytochrome oxidase deficient homolog 2 (yeast) 10.0
phenylalanine Hydroxylase 10.0
KIAA0136 10.0
more...
Disease
Hall-Riggs syndrome 11.0
Constitutional obesity 11.0
Golabi-Ito-Hall syndrome 11.0
APMR2 11.0
4p minus syndrome 11.0
Urban syndrome 11.0
MRX29 11.0
MRX41 11.0
mental retardation 11.0
Porteous syndrome 11.0
MRX81 11.0
MRT2A 11.0
macrocephaly-cutis marmorata telangiectatica congenita syndrome 11.0
Sabinas syndrome 11.0
MRXSL 11.0
MRX30 11.0
MRX43 11.0
Tyrosinemia I 11.0
Kapur-Toriello syndrome 11.0
MRX16 11.0
MRX14 11.0
MRX52 11.0
MRX63 11.0
Atkin-Flaitz syndrome 11.0
Sutherland-Haan syndrome 11.0
Aseptic meningitis or meningoencephalitis 11.0
lalling 11.0
MRX46 11.0
MRX53 11.0
MRX47 11.0
ATS-MR 11.0
MRX77 11.0
partial trisomy 1p 11.0
FGS4 11.0
ring chromosome 7 syndrome 11.0
Congenital dysphasia 11.0
APMR1 11.0
MRX73 11.0
Deficiency of carbonic anhydrase 11.0
MRX45 11.0
Other mental retardation 11.0
Pashayan-Pruzansky syndrome 11.0
MRX48 11.0
MRX19 11.0
MRXS7 11.0
MRX20 11.0
Fine-Lubinsky syndrome 11.0
MRX9 11.0
dermotrichic syndrome 11.0
MRX59 11.0
MRX2 11.0
Cranial nerve compression 11.0
7p partial trisomy syndrome 11.0
Mollica-Pavone-Anterer syndrome 11.0
MDC1B 11.0
MRX84 11.0
Disturbance of emotions specific to childhood and adolescence 11.0
Proud syndrome 11.0
Sleep starts 11.0
mental retardation 10.9
MRX3 10.8
FGS2 10.6
Acrocephalopolysyndactyly 10.6
Ohdo blepharophimosis syndrome 10.6
Partington syndrome 10.6
EFMR 10.6
M-CMTC 10.6
MRX21 10.6
BDMR 10.4
Childhood psychosis 10.4
MRX23 10.4
neurofaciodigitorenal syndrome 10.4
WAGRO 10.4
FRA12A 10.2
Mutchinick syndrome 10.0
Pallidoluysian atrophy 10.0
Ramon syndrome 10.0
Summitt syndrome 10.0
Premature eruption of teeth 10.0
MRX82 10.0
more...
Symptom
Posturing 9.4
Dysdiadochokinesis 8.6
Spastic hemiplegia 8.0
prominent nose 7.9
Tandem gait 7.6
hypotonia 7.6
Respiratory abnormalities 7.6
Hypersomnolence 6.9
delayed language development 6.9
athetosis 6.6
Synkinesis 6.5
cerebellar ataxia 6.4
ataxic gait 6.1
intention tremor 6.1
localized erythema 6.0
spasticity 6.0
drooling 5.9
chromosome marker 5.8
ataxia 5.7
abnormal breathing 5.5
hyperacusis 5.5
pachyonychia 5.5
carpopedal spasm 5.4
musculoskeletal disability 5.4
Kernig's sign 5.4
partial seizure 5.4
seizures 5.3
tonic seizure 5.2
hypertonia 5.2
monoplegia 5.2
Physical findings 5.2
generalized erythema 5.1
General symptoms 5.1
dysarthria 5.1
clumsiness 5.0
hemiplegia 5.0
Bitot's spots 4.9
myoclonus 4.9
staggering gait 4.8
paraparesis 4.8
bedwetting 4.8
enuresis 4.7
Psychiatric symptoms 4.6
situational stress 4.6
Behavioral symptoms 4.6
hepatosplenomegaly 4.6
catatonia 4.6
dystonia 4.5
sighing 4.4
growing pains 4.4
photophobia 4.3
chronic constipation 4.3
tonic-clonic seizure 4.3
clonus 4.3
abnormal gait 4.2
fasciculation 4.1
incoordination 4.1
astasia 4.0
aphonia 4.0
chorea 4.0
facial droop 4.0
vestibulitis 3.9
DNA marker 3.9
Involuntary Movement 3.9
nocturnal polyuria 3.8
tremor 3.8
consciousness disturbance 3.6
physical appearance 3.6
polydipsia 3.6
scaly skin 3.5
ophthalmoplegia 3.5
Spastic 3.5
clubbing 3.5
weakness 3.5
adipsia 3.4
paresis 3.4
anosmia 3.4
polyuria 3.4
rectal pain 3.4
Extrapyramidal symptoms 3.4
more...
Drug
Quetiapine hemifumarate 11.0
Calcium hopantenate 9.0
Fosfluconazole 8.6
Galsulfase 8.4
Thyradin 8.0
CXN 7.3
Zmax 7.0
Idursulfase 6.6
Diastat 6.5
Stiripentol 6.2
Namenda 5.8
Collodion 5.8
Amlexanox 5.5
Valganciclovir 5.5
Zinc acetate 5.4
AGG 5.2
Sodium valproate 5.0
Tiopronin 4.9
Azithromycin 4.8
Sonata 4.8
Cobalamin 4.5
Sodium benzoate 4.3
DMAA 4.2
Thioridazine 4.0
DM1 4.0
Galactose 3.9
Pyridoxal phosphate 3.8
CLS 3.8
BH4 3.7
Meconium 3.6
AVC 3.5
OTC 3.4
Phenytoin 3.4
Vitamin B 3.3
Atomoxetine 3.3
Ammonium chloride 3.1
Singular 3.0
Spectrum 3.0
OTC 2.9
Palmitoyl 2.8
CPO 2.7
Senna 2.7
Vitamin B12 2.7
Copaxone 2.7
Senna 2.6
Depo-Provera 2.6
Isotretinoin 2.6
Adenosine deaminase 2.5
Piracetam 2.5
HPMPC 2.5
Ethanol 2.5
Ganciclovir 2.4
Retinoic Acid 2.4
Zonisamide 2.4
Doyle 2.3
Frontal 2.3
Botox 2.3
Aminoguanidine 2.2
L-tyrosine 2.1
Spectrum 2.0
VCR 1.9
Orphan 1.9
Tuberculin 1.8
BTC 1.8
Metrizamide 1.8
Growth hormone 1.8
linolenate 1.7
Growth hormone 1.7
Parkin 1.7
TTC 1.7
Parkin 1.7
pyridoxal phosphate 1.7
Pilocarpine 1.6
PDL 1.6
BLM 1.6
PTH 1.6
Everolimus 1.5
CTA 1.5
Camp 1.5
DMSA 1.4
more...
Enzyme
EC 1.2.1.48 9.4
7-dehydrocholesterol reductase 8.2
glycine amidinotransferase 7.6
aspartylglucosaminidase 7.6
guanidinoacetate methyltransferase 7.4
prolidase 7.0
6-pyruvoyltetrahydropterin synthase 7.0
glutamate formiminotransferase 7.0
neurosin 6.9
serum carnosinase 6.7
spermine synthase 6.5
BCKDH 6.4
adenylosuccinate lyase 6.4
trans-2-enoyl-CoA reductase 6.3
dihydroxyacetone phosphate acyltransferase 6.2
sarcosine dehydrogenase 6.2
Lod 6.2
phytanoyl-CoA hydroxylase 6.2
AIR synthetase 6.2
phosphoinositide 5-phosphatase 6.1
alpha-N-acetylglucosaminidase 6.1
uridyltransferase 6.1
inosine triphosphatase 6.0
aspartoacylase 6.0
gamma-glutamyl phosphate reductase 5.9
cystathionine beta-synthase 5.9
CTD kinase 5.8
phenylalanine hydroxylase 5.8
succinic semialdehyde dehydrogenase 5.7
dimethylglycine dehydrogenase 5.7
alpha-L-iduronidase 5.6
NADH-cytochrome b5 reductase 5.5
4-hydroxyphenylpyruvate dioxygenase 5.5
phosphomannomutase 5.4
iduronate-2-sulfatase 5.4
glycerol kinase 5.4
dihydroxyacetone-phosphate acyltransferase 5.4
biotinidase 5.4
galactose-1-phosphate uridylyltransferase 5.2
CYP27A1 5.2
site-1 protease 5.2
ribose-5-phosphate isomerase 5.2
dihydropteridine reductase 5.1
cystathionine gamma-synthase 5.1
N-acetylglucosaminyltransferase II 5.0
urocanase 5.0
histone demethylase 5.0
hypoxanthine-guanine phosphoribosyltransferase 5.0
sulfite oxidase 5.0
diphosphomevalonate decarboxylase 4.9
sulfite oxidase 4.9
tripeptidyl peptidase 4.8
LIS 4.7
histidase 4.7
branched-chain alpha-keto acid dehydrogenase 4.7
3-mercaptopyruvate sulfurtransferase 4.7
amylo-1,6-glucosidase 4.6
KAR 4.6
pyruvate dehydrogenase phosphatase 4.5
guanylate kinase 4.5
proline oxidase 4.5
CLK1 4.4
arylsulfatase 4.4
3-oxoacid CoA-transferase 4.4
proline dehydrogenase 4.3
protoporphyrinogen oxidase 4.2
ornithine transcarbamylase 4.2
NAD+ oxidoreductase 4.2
tyrosine aminotransferase 4.2
gamma-glutamyl kinase 4.2
site-1 protease 4.2
pyrroline-5-carboxylate dehydrogenase 4.1
PRPP synthetase 4.1
PHD 4.0
esterase D 4.0
mevalonate kinase 4.0
T-protein 3.9
alpha-mannosidase 3.9
deoxyguanosine kinase 3.8
ornithine aminotransferase 3.8
more...
Compound
L-2-Hydroxyglutaric acid 9.4
Butoctamide hydrogen succinate 9.4
Microcephalin 8.6
Retard 8.4
Caprin 8.4
Guanidinoacetic acid 7.9
3-Hydroxyglutaric acid 7.8
X 34 7.6
Phenylpyruvate 7.2
Tuberin 7.1
Hydantoin 6.9
glutamic gamma-semialdehyde 6.9
D-Proline 6.6
3-methyl-2-oxopentanoate 6.5
DHC 6.4
Triparanol 6.3
Bufotenine 6.3
S-sulfocysteine 6.3
diphenylarsinic acid 6.1
Sudafed 6.1
adenylosuccinate 6.0
alpha-hydroxyisovaleric acid 6.0
6-pyruvoyltetrahydropterin 6.0
Homocarnosine 6.0
N-acetylaspartic acid 6.0
Sudafed 5.9
MCA 5.9
MCA 5.9
DMD 5.9
Methylmalonic acid 5.8
N-acetylaspartic acid 5.8
SAICAR 5.6
mercaptopyruvate 5.6
Methylazoxymethanol 5.5
Creatine 5.4
L-methylmalonyl-CoA 5.4
Homogentisate 5.4
CZP 5.2
Zinc acetate 5.2
DDMS 5.2
MAOA 5.1
MOPA 5.1
MOPA 5.1
Vigabatrin 5.1
MSTFA 5.1
DMDP 5.0
SHM 5.0
Cystathionine 4.8
Cystathionine 4.8
pyrroline-5-carboxylate 4.7
iduronate 4.7
BIF 4.7
ESE 4.7
hexadecanal 4.6
XTP 4.6
DIT 4.6
Phenylalanine 4.6
Levetiracetam 4.6
Molybdenum cofactor 4.6
A 99 4.6
hexadecanal 4.5
hydroxyglutarate 4.5
Cilag 4.5
KTS 4.5
Cobalamin 4.5
DCH 4.5
MMU 4.4
Pyridoxine 4.4
5-oxoproline 4.4
5-oxoproline 4.4
GDP-L-fucose 4.4
Xamoterol 4.4
4-oxobutanoic acid 4.4
Chlorpropamide 4.3
erythrose-4-phosphate 4.3
TSC 4.2
5-oxoproline 4.2
TNA 4.2
SP 1 4.1
CH3-THF 4.1
more...