facial edema Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000282
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36 genes associated with the facial edema phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AIP aryl hydrocarbon receptor interacting protein
ANTXR1 anthrax toxin receptor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CAMTA1 calmodulin binding transcription activator 1
CCBE1 collagen and calcium binding EGF domains 1
CLIP2 CAP-GLY domain containing linker protein 2
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DUX4 double homeobox 4
ELN elastin
FOXG1 forkhead box G1
FRG1 FSHD region gene 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
KCTD1 potassium channel tetramerization domain containing 1
LIMK1 LIM domain kinase 1
MYD88 myeloid differentiation primary response 88
NEU1 sialidase 1 (lysosomal sialidase)
PEX5 peroxisomal biogenesis factor 5
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
SETBP1 SET binding protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SOX18 SRY (sex determining region Y)-box 18
SUMF1 sulfatase modifying factor 1
TBL2 transducin (beta)-like 2
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A