polar cataract Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. (Human Phenotype Ontology, HP_0010696)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010696
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Genes

22 genes associated with the polar cataract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ALMS1 Alstrom syndrome protein 1
CHMP4B charged multivesicular body protein 4B
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
CRYAB crystallin, alpha B
EPHA2 EPH receptor A2
FOXE3 forkhead box E3
FZD4 frizzled class receptor 4
HSF4 heat shock transcription factor 4
IMPG2 interphotoreceptor matrix proteoglycan 2
ITM2B integral membrane protein 2B
LRP5 low density lipoprotein receptor-related protein 5
NF2 neurofibromin 2 (merlin)
OAT ornithine aminotransferase
OFD1 oral-facial-digital syndrome 1
PEX5 peroxisomal biogenesis factor 5
PITX3 paired-like homeodomain 3
RBP3 retinol binding protein 3, interstitial
ZBTB20 zinc finger and BTB domain containing 20