hypoplastic ilia Gene Set
Genes
31 genes associated with the hypoplastic ilia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ARSB
|
arylsulfatase B
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
DYM
|
dymeclin
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
HDAC6
|
histone deacetylase 6
|
|
IHH
|
indian hedgehog
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
PCNT
|
pericentrin
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPS19
|
ribosomal protein S19
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SMAD4
|
SMAD family member 4
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
TBX15
|
T-box 15
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
WDR19
|
WD repeat domain 19
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
