thickened calvaria Gene Set
Genes
18 genes associated with the thickened calvaria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
AGA
|
aspartylglucosaminidase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
DYM
|
dymeclin
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
GNAS
|
GNAS complex locus
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
PHF6
|
PHD finger protein 6
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SMAD4
|
SMAD family member 4
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
