Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0424605 (developmental delay)
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Human Gene/Protein
N-ethylmaleimide-sensitive factor attachment protein, beta 11.9
phosphatidylinositol glycan class S 11.9
C1orf99 11.9
COX7a-related protein 11.9
THG1L 11.9
Growth arrest-specific 7 11.9
C14orf23 11.9
BCKDK protein 11.9
FAM149B1 11.9
ADAM metallopeptidase domain 23 11.9
SSX9 11.9
chromosome 6 open reading frame 70 11.9
SET domain containing 5 11.9
JBTS6 11.9
TMEM94 11.9
ATPase type 13A4 11.9
WDR37 protein 11.9
SEC8L1 11.9
T-cell lymphoma breakpoint-associated target 1 11.9
UNQ6114 11.9
mediator complex subunit 13-like 11.9
praja 1 11.9
TMEM14E 11.9
microtubule associated serine/threonine kinase 1 11.9
beta 1,3-galactosyltransferase-like 11.9
QRICH1 protein 11.9
TBR1 protein 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
PNKP protein 10.9
KIAA1328 10.9
FBRSL1 10.9
COMTD1 10.9
WDR87 10.9
PRR12 10.9
ZNF541 10.9
STMN4 10.9
MGC57346 10.9
CCDC47 10.9
pleckstrin homology domain interacting protein 10.9
FAM62B 10.9
METTL2 10.9
PARS2 10.9
ZNF181 10.9
ZNF778 10.9
CPNE9 10.9
PIGQ 10.9
Chloride intracellular channel 2 10.9
KIAA0461 10.9
TIMM50 protein 10.9
ORC4L 10.9
LRTM2 10.9
VCX-B 10.9
CRALBPL 10.9
TMEM164 10.9
ZDHHC23 10.9
F-box protein 8 10.9
KCTD18 10.9
NEDD4L variant 10.9
peptide chain release factor 3 10.9
ZNF599 10.9
ZNF30 10.9
UROC1 10.9
Ras-like without CAAX 1 10.9
BRF1 protein 10.9
RAS p21 protein activator 2 10.9
TMEM160 10.9
SATB homeobox 2 10.9
TRNT1 10.7
TUBGCP5 10.6
WDR37 10.6
FBXL18 10.6
ATAD3A protein 10.6
PIGP 10.6
PMPCA 10.6
ENOPH1 10.5
ZNF462 10.5
more...
Disease
macrocephaly-cutis marmorata telangiectatica congenita syndrome 11.9
CMD1O 11.9
7p partial trisomy syndrome 11.9
Central nervous system vascular disorders 11.9
Deficiency of ribose-5-phosphate isomerase 11.9
Motor speech disorder 11.9
Hypotonic cerebral palsy 11.9
Urocanic aciduria 11.9
NPHP1, DEL 11.9
CDG Ik 11.9
Congenital fascial dystrophy 11.9
MCPHA 11.9
developmental delay 11.9
CDG Im 11.9
JBTS6 11.9
M-CMTC 11.5
DEND 11.4
Fitzsimmons syndrome 10.9
Fine-Lubinsky syndrome 10.9
CDG Ie 10.9
Neurodevelopmental disorder 10.9
Low frustration tolerance 10.9
Sabinas syndrome 10.9
Hyperpipecolic acidemia 10.9
Mutchinick syndrome 10.9
Say-Meyer syndrome 10.9
partial monosomy 8q 10.9
CDG Ix 10.7
KBG syndrome 10.6
Congenital hyperthyroidism 10.6
WHSCR2 10.6
10q deletion syndrome 10.5
XLIS 10.4
Neonatal intracranial hemorrhage 10.3
Gurrieri syndrome 10.3
6p deletion syndrome 10.3
WHSCR 10.3
Nerve deafness 10.3
Geroderma osteodysplastica 10.3
Teebi syndrome 10.3
Partial agenesis of corpus callosum 10.3
recombinant 8 syndrome 10.3
AMDM 10.3
Camptomelic dysplasia 10.3
BDMR 10.3
Excessive skin 10.3
LACH 10.3
tetrasomy 15q 10.2
ring chromosome 12 10.1
Atypical absence seizures 10.1
Adenylosuccinate lyase deficiency 10.1
de Barsy syndrome 10.1
ring chromosome 15 syndrome 10.1
4q deletion syndrome 10.0
Succinic semialdehyde dehydrogenase deficiency 10.0
partial trisomy 14q 9.9
Filippi syndrome 9.9
CISS1 9.9
Wisconsin syndrome 9.9
PMLD1 9.9
partial monosomy 6q 9.9
Galloway-Mowat syndrome 9.9
cerebro-oculo-muscular syndrome 9.9
monosomy 15q 9.9
Cytochrome c oxidase deficiency 9.9
Holocarboxylase synthetase deficiency 9.9
partial monosomy Xq 9.9
Epileptic encephalopathy 9.9
Baraitser-Winter syndrome 9.9
3-Methylglutaconic aciduria 9.8
fetal valproate syndrome 9.8
Pontocerebellar hypoplasia 9.8
PCH1 9.8
trisomy 15q 9.7
Dysosteosclerosis 9.7
trisomy 12p 9.6
penta-X syndrome 9.6
fetal trimethadione syndrome 9.6
Complex II deficiency 9.6
Fumarase deficiency 9.6
more...
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
monoplegia 5.1
inanition 5.1
Visual disturbances 5.1
hepatosplenomegaly 5.1
partial seizure 5.1
intention tremor 5.1
hyperacusis 5.0
facial droop 5.0
hepatomegaly 5.0
enuresis 4.9
chronic constipation 4.9
torticollis 4.9
myoclonus 4.8
dry skin 4.8
clonus 4.7
nocturnal polyuria 4.7
chorea 4.7
paraparesis 4.7
abnormal gait 4.6
lethargy 4.5
pallor 4.5
tachypnea 4.5
hemiplegia 4.5
retching 4.4
Extrapyramidal symptoms 4.3
Involuntary Movement 4.3
tonic seizure 4.2
livedo 4.2
photophobia 4.1
muscle cramps 4.1
stridor 4.1
ACHE 4.1
polyuria 4.1
periorbital edema 3.9
ophthalmoplegia 3.9
auditory hallucination 3.9
tonic-clonic seizure 3.9
joint stiffness 3.9
weakness 3.8
personality change 3.8
more...
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
Camp 2.4
Gelfoam 2.4
Secretin 2.4
Prednisolone 2.4
Growth hormone 2.4
Ganciclovir 2.4
Growth hormone 2.4
TEL 2.3
VCR 2.3
AGG 2.3
DM1 2.3
Triclosan 2.3
DBS 2.1
Adenosine triphosphate 2.1
DDAVP 2.0
DDAVP 2.0
Frontal 1.9
Galactose 1.9
lysine 1.8
Captopril 1.8
Lactose 1.8
pyridoxal phosphate 1.6
Arsenic trioxide 1.6
Fraction 1.6
CTC 1.6
FAD 1.5
Vitamin K 1.5
Retinoic acid 1.2
MRC 1.2
Gelatin 1.2
Norplant 1.1
Bevacizumab 1.1
Amiloride 1.1
NADH 1.1
Ethanol 1.0
Mutagen 1.0
Check 1.0
Portal 0.9
Propofol 0.9
ENT 0.9
more...
Enzyme
phosphatidylinositol N-acetylglucosaminyltransferase 9.9
mannosyl-oligosaccharide glucosidase 9.3
5,10-methenyltetrahydrofolate synthetase 9.0
3-hydroxyisobutyryl-CoA hydrolase 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
N-acetylglucosaminylphosphotransferase 7.2
dihydroxyacetone phosphate acyltransferase 7.2
glutaryl-CoA dehydrogenase 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
beta-ureidopropionase 6.6
glycine amidinotransferase 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
iduronate-2-sulfatase 5.6
glycerol kinase 5.6
methionine synthase 5.6
acyl-CoA dehydrogenase 5.5
spermine synthase 5.5
asparaginyl-tRNA synthetase 5.5
lysine acetyltransferase 5.4
methionine synthase 5.4
isovaleryl-CoA dehydrogenase 5.4
phosphoglycolate phosphatase 5.4
3-oxoacid CoA-transferase 5.3
glutaminyl-tRNA synthetase 5.1
acyl-CoA dehydrogenase 5.0
esterase D 5.0
dihydropteridine reductase 4.8
lysyl-tRNA synthetase 4.8
CTD kinase 4.8
tripeptidyl peptidase 4.8
deoxyhypusine synthase 4.7
arylsulfatase A 4.7
fumarase 4.6
homocysteine methyltransferase 4.5
polynucleotide kinase 4.5
propionyl-CoA carboxylase 4.5
propionyl-CoA carboxylase 4.5
exopolyphosphatase 4.5
methylenetetrahydrofolate reductase 4.5
methylenetetrahydrofolate reductase 4.5
NADH-cytochrome b5 reductase 4.4
phenylalanyl-tRNA synthetase 4.4
aromatic L-amino acid decarboxylase 4.4
aldehyde oxidase 4.4
alpha-L-fucosidase 4.4
kynureninase 4.4
mevalonate kinase 4.3
methionyl-tRNA synthetase 4.3
valyl-tRNA synthetase 4.3
RNase PH 4.3
dihydropyrimidine dehydrogenase 4.3
GABA transaminase 4.3
more...
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
Homocarnosine 6.9
N-acetylaspartic acid 6.9
5,10-Methylenetetrahydrofolate 6.9
Argininosuccinate 6.8
Glutaric acid 6.8
3-hydroxyisovaleric acid 6.8
Metaraminol 6.8
S-sulfocysteine 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
5,10-methylene-THF 5.9
Cyanocobalamin 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
MMU 5.4
NEE 5.4
Pipecolic acid 5.3
MGA 5.3
Ferric chloride 5.2
2-oxoadipate 5.2
glutaryl-CoA 5.1
folinic acid 5.1
BAF 5.0
MMD 5.0
Rabeprazole 5.0
3-methylcrotonyl-CoA 5.0
hydroxyglutarate 5.0
dolichyl-phosphate 5.0
Griseofulvin 4.9
sedoheptulose 7-phosphate 4.9
1,3-cyclohexanedione 4.9
Farnesyl diphosphate 4.9
Griseofulvin 4.9
piperidine-2-carboxylic acid 4.8
AY9944 4.8
C 5 4.8
Pseudouridine 4.8
2-Oxoglutarate 4.7
DDC 4.7
Dolichol 4.7
SHS 4.7
pyrroline-5-carboxylate 4.7
DHC 4.6
MCA 4.6
MCA 4.6
DMD 4.6
1,3-butanediol 4.5
Valproic acid 4.5
SET 4.5
methoxyacetic acid 4.5
Tetrahydrobiopterin 4.5
MMA 4.5
Vigabatrin 4.4
1,3-butanediol 4.4
more...