Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:Q96G97 (Silver syndrome)
 182 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
Silver syndrome 182
seipin 42
BSCL2 35
lysophosphatidic acid acyltransferase 28
endoplasmic reticulum 26
insulin 21
Sep 14
Mol 14
growth hormone 10
Beckwith-Wiedemann syndrome 10
IGF2 7
CDKN1C 7
integral membrane protein 5
AGPAT2 5
leptin 4
X-linked 4
membrane protein 4
GRB10 4
SEIPIN 4
REEP1 4
more...
Disease
lipodystrophy 21
generalized lipodystrophy 21
neuropathy 20
Beckwith-Wiedemann syndrome 13
diabetes 10
muscular atrophy 9
spastic paraplegia 9
Charcot-Marie-Tooth disease 8
macrocephaly 7
mental retardation 6
mental retardation 6
Hereditary spastic paraplegia 6
lipoatrophy 5
genetic disorder 5
wasting 5
tumor 5
fatty liver 5
developmental delay 4
failure to thrive 4
ichthyosis 4
more...
Symptom
spasticity 11
paraparesis 9
weakness 7
paresis 2
seizures 2
bone pain 1
excessive sweating 1
hypertonia 1
cough 1
cerebellar ataxia 1
enuresis 1
anesthesia 1
torticollis 1
hepatomegaly 1
Drug
Growth hormone 3
Growth hormone 3
Dermatol 3
Rosiglitazone 2
Kenyan 1
Leaf 1
lysine 1
Enzyme
caspase-3 2
neuropathy target esterase 2
ATPase 2
glycerophosphate acyltransferase 2
fatty acid desaturase 2
calcium pump 1
tyrosine hydroxylase 1
CCS 1
acyl-CoA synthetase 1
protein kinase 1
chaperonin 1
proteasome 1
mitogen-activated protein kinase 1
CYP7B1 1
SPT 1
Compound
Dec 14
Clin 11
DNA 9
silver 6
phosphate 4
oxygen 3
glucose 2
calcium 2
Neuronal 2
glycerol 2
GABA 1
butyric acid 1
Serine 1
TCA 1
CCS 1
EDS 1
Silver, 1
leucine 1
ENU 1
ADP 1
more...