Spasms, Infantile Gene Set
Genes
30 genes/proteins associated with the disease Spasms, Infantile from the curated CTD Gene-Disease Associations dataset.
| Symbol |
Name |
Standardized Value |
|
TSC2
|
tuberous sclerosis 2
|
2.88009
|
|
CRH
|
corticotropin releasing hormone
|
2.88009
|
|
UPB1
|
ureidopropionase, beta
|
2.88009
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
2.88009
|
|
POMC
|
proopiomelanocortin
|
2.88009
|
|
TSC1
|
tuberous sclerosis 1
|
2.88009
|
|
GNAI2
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
|
1.24213
|
|
DBP
|
D site of albumin promoter (albumin D-box) binding protein
|
1.2208
|
|
RGS16
|
regulator of G-protein signaling 16
|
1.21076
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
1.16236
|
|
FGA
|
fibrinogen alpha chain
|
1.13689
|
|
LYZ
|
lysozyme
|
1.12634
|
|
FKBP5
|
FK506 binding protein 5
|
1.12323
|
|
CTSL
|
cathepsin L
|
1.12151
|
|
MMD
|
monocyte to macrophage differentiation-associated
|
1.09998
|
|
GPX1
|
glutathione peroxidase 1
|
1.09681
|
|
OTC
|
ornithine carbamoyltransferase
|
1.08301
|
|
SPON1
|
spondin 1, extracellular matrix protein
|
1.0734
|
|
CCRN4L
|
CCR4 carbon catabolite repression 4-like (S. cerevisiae)
|
1.06808
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
1.06698
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
1.06479
|
|
SIK1
|
salt-inducible kinase 1
|
1.06406
|
|
MMP13
|
matrix metallopeptidase 13
|
1.06044
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
1.05685
|
|
RB1
|
retinoblastoma 1
|
1.04831
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
1.04757
|
|
CA3
|
carbonic anhydrase III
|
1.03678
|
|
CP
|
ceruloplasmin (ferroxidase)
|
1.03345
|
|
IRGM
|
immunity-related GTPase family, M
|
1.01174
|
|
PRKCA
|
protein kinase C, alpha
|
1.01099
|
