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:C0221355 (
macrocephaly
)
1,592
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
.
Concepts found in the documents ranked by [
Frequency
|
Pointwise Mutual Information
|
Symmetric Conditional Probability
] .
Human Gene/Protein
Sep
101
MRI
99
PTEN
97
Sotos syndrome
61
Mol
59
She
59
X-linked
56
NSD1
37
MLC1
33
glutaryl-CoA dehydrogenase
27
phosphatase and tensin homolog
27
strabismus
22
phosphatase
21
CSF
21
mTOR
21
neurofibromatosis
21
aspartoacylase
21
GLI3
20
glial fibrillary acidic protein
20
FISH
20
more...
Disease
macrocephaly
1592
developmental delay
253
hydrocephalus
190
autism
175
mental retardation
173
mental retardation
170
tumor
106
epilepsy
98
dysplasia
93
cancer
76
Sotos syndrome
69
Cowden syndrome
56
leukoencephalopathy
54
hamartoma
51
scoliosis
45
obesity
41
leukodystrophy
40
Ruvalcaba syndrome
39
glutaric aciduria
35
trisomy
33
more...
Symptom
seizures
198
hypotonia
181
ataxia
47
spasticity
42
dystonia
29
constipation
20
vomiting
18
hepatosplenomegaly
18
tremor
14
headache
14
anesthesia
14
cerebellar ataxia
12
weakness
9
hepatomegaly
8
respiratory distress
7
hypertonia
6
pallor
6
ataxic gait
5
pain
5
paraparesis
5
more...
Drug
Dermatol
28
lysine
23
CSF
21
Spectrum
6
Spectrum
6
Riboflavin
3
Growth hormone
2
CAM
2
Growth hormone
2
citric acid
1
Vitamin A
1
Lioresal
1
Kenyan
1
Norplant
1
Triptorelin
1
Clonidine
1
Zmax
1
CLS
1
Idursulfase
1
Vitamin B
1
more...
Enzyme
mitogen-activated protein kinase
27
glutaryl-CoA dehydrogenase
23
aspartoacylase
18
ERK
18
ATPase
8
MEK
6
phosphatidylinositol 3-kinase
6
calcineurin
5
complex I
4
hexosaminidase
4
catalase
4
protein kinase
4
focal adhesion kinase
4
glutathione peroxidase
3
iduronate-2-sulfatase
3
beta-galactosidase
2
NOS
2
alpha-mannosidase
2
superoxide dismutase
2
glucose-6-phosphate dehydrogenase
2
more...
Compound
Clin
123
Dec
103
DNA
66
silver
33
His
27
hydroxyglutarate
24
lysine
24
N-acetylaspartate
15
tryptophan
13
tryptophan
13
tryptophan
13
tryptophan
13
N-acetylaspartic acid
12
N-acetylaspartic acid
12
arginine
11
water
11
calcium
10
potassium
9
MCA
9
GA1
9
more...