Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0424605 (
developmental delay
)
8,158
document(s) hit in 31,850,051 MEDLINE articles (0.01 seconds)
.
Concepts found in the documents ranked by [
Frequency
|
Pointwise Mutual Information
|
Symmetric Conditional Probability
] .
Human Gene/Protein
Sep
537
Mol
425
MRI
309
She
276
X-linked
252
FISH
192
insulin
100
strabismus
95
telomeric
85
MIM
71
p11
66
ATP
61
cryptic
61
axonal
56
Rett syndrome
51
X-linked recessive
51
CSF
50
Kir6.2
49
endoplasmic reticulum
47
Sotos syndrome
41
p13
37
tRNA
34
UBE3A
33
MECP2
32
CDKL5
32
growth hormone
32
ASD
32
glucose transporter
31
p22
31
transferrin
29
NSD1
29
thyroid hormone
28
SHANK3
27
histone
27
MAPK
26
GTG
26
p12
26
B12
26
GABA
26
FMR1
26
more...
Disease
developmental delay
8158
epilepsy
1013
autism
670
mental retardation
636
mental retardation
627
encephalopathy
326
failure to thrive
301
macrocephaly
253
dysplasia
230
HCG
229
cerebral palsy
193
obesity
184
hydrocephalus
154
genetic disorder
149
cleft palate
144
trisomy
143
Autism
139
cognitive impairment
130
developmental disabilities
125
diabetes
123
deafness
120
cancer
116
Angelman syndrome
113
tumor
112
sensorineural hearing loss
111
strabismus
105
nystagmus
101
heart disease
101
scoliosis
97
craniosynostosis
94
Down syndrome
93
brain atrophy
93
prolapse
87
cardiomyopathy
84
Syndrome
83
immunodeficiency
82
hypoglycemia
78
Joubert syndrome
77
schizophrenia
72
fragile X syndrome
71
more...
Symptom
seizures
1444
hypotonia
1142
ataxia
361
spasticity
148
weakness
139
dystonia
102
vomiting
69
tremor
50
cerebellar ataxia
49
diarrhea
46
hepatomegaly
46
pain
45
dysarthria
42
hypertonia
40
anesthesia
39
hepatosplenomegaly
39
constipation
36
headache
36
lethargy
34
thinning
34
respiratory distress
34
myoclonus
31
ataxic gait
26
hemiplegia
23
overweight
19
paraparesis
18
incoordination
17
tachypnea
15
pallor
15
chorea
14
hypothermia
13
ophthalmoplegia
13
splenomegaly
13
enuresis
13
prominent nose
13
polyuria
13
torticollis
12
fatigue
12
sleepiness
11
starvation
10
more...
Drug
lysine
52
Dermatol
51
CSF
50
Vitamin B12
15
Spectrum
14
Spectrum
14
Cobalamin
13
NADH
12
Vitamin B
11
ascorbate
7
Asthma
5
Ethanol
5
ampicillin
5
BH4
5
ENT
4
Cardiovasc
4
FAD
4
ABC
4
citric acid
4
Growth hormone
4
Growth hormone
4
Simvastatin
3
Sodium valproate
3
EPA
3
caffeine
3
vitamin E
3
Mutagen
3
IFN-gamma
2
Triclosan
2
Portal
2
Leaf
2
Monit
2
DM1
2
OTC
2
Frontal
2
OTC
2
ROC
2
VCR
2
BLM
2
Glutathione
2
more...
Enzyme
ERK
67
mitogen-activated protein kinase
53
complex I
30
ATPase
29
cytochrome oxidase
25
alkaline phosphatase
23
creatine kinase
23
biotinidase
21
protein kinase
20
proteasome
16
pyruvate dehydrogenase
16
MEK
14
catalase
14
methylenetetrahydrofolate reductase
12
acyl-CoA dehydrogenase
12
sulfatase
12
methylenetetrahydrofolate reductase
12
methionine synthase
10
methionine synthase
10
superoxide dismutase
10
pyruvate dehydrogenase
9
adenylosuccinate lyase
9
pyruvate dehydrogenase
9
glycerol kinase
9
acyl-CoA dehydrogenase
9
guanidinoacetate methyltransferase
9
demethylase
8
glutaryl-CoA dehydrogenase
8
ceruloplasmin
8
tyrosine hydroxylase
8
succinate dehydrogenase
8
RNA polymerase
8
acetylcholinesterase
7
aspartoacylase
7
phosphomannomutase
7
focal adhesion kinase
7
fumarase
7
adenosine deaminase
6
hypoxanthine-guanine phosphoribosyltransferase
6
APC
6
more...
Compound
Clin
547
Dec
503
DNA
445
His
158
glucose
116
ATP
61
sodium
59
potassium
58
oxygen
57
lysine
53
iron
53
calcium
53
arginine
50
water
49
methionine
45
GTP
37
phosphate
36
homocysteine
35
galactose
29
A 3
29
glutamate
28
zinc
28
ethanol
27
GABA
26
GABA
26
serine
25
leucine
25
urea
24
Phe
24
GlcNAc
23
Cardiol
21
copper
21
cysteine
21
ammonia
21
DSM
20
valine
20
silver
20
MCA
19
tyrosine
19
MCA
19
more...