Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
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...