palpebral edema Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Edema in the region of the eyelids. (Human Phenotype Ontology, HP_0100540)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100540
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Genes

17 genes associated with the palpebral 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
CAMTA1 calmodulin binding transcription activator 1
DUX4 double homeobox 4
FOXG1 forkhead box G1
FRG1 FSHD region gene 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
KCTD1 potassium channel tetramerization domain containing 1
PEX5 peroxisomal biogenesis factor 5
RIN2 Ras and Rab interactor 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1