retinal dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of developmental dysplasia of the retina. (Human Phenotype Ontology, HP_0007973)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007973
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Genes

12 genes associated with the retinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GNT1
FKTN fukutin
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
LARGE like-glycosyltransferase
NDP Norrie disease (pseudoglioma)
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMT1 protein-O-mannosyltransferase 1
TMEM5 transmembrane protein 5
TUBB tubulin, beta class I