Pierre Robin Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1848488
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Genes

39 genes associated with the disease Pierre Robin Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACVR2A activin A receptor, type IIA
AMER1 APC membrane recruitment protein 1
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
CALML3 calmodulin-like 3
COG1 component of oligomeric golgi complex 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COTL1 coactosin-like F-actin binding protein 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DGCR2 DiGeorge syndrome critical region gene 2
DGCR6 DiGeorge syndrome critical region gene 6
DGCR8 DGCR8 microprocessor complex subunit
DLX6 distal-less homeobox 6
EBF3 early B-cell factor 3
EDN1 endothelin 1
EIF4A3 eukaryotic translation initiation factor 4A3
ESS2 ess-2 splicing factor homolog
FBN2 fibrillin 2
FLNA filamin A, alpha
FOXC2 forkhead box C2
MAP2K6 mitogen-activated protein kinase kinase 6
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13-like
MSX1 msh homeobox 1
PHAX phosphorylated adaptor for RNA export
PTCH1 patched 1
RAB18 RAB18, member RAS oncogene family
RBM10 RNA binding motif protein 10
SATB2 SATB homeobox 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SOX11 SRY (sex determining region Y)-box 11
SOX9 SRY (sex determining region Y)-box 9
TARP TCR gamma alternate reading frame protein
TBC1D20 TBC1 domain family, member 20
TBX1 T-box 1
TMEM8C transmembrane protein 8C