abnormality of the vitreous humor Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the vitreous body. (Human Phenotype Ontology, HP_0004327)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004327
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32 genes associated with the abnormality of the vitreous humor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BCOR BCL6 corepressor
BEST1 bestrophin 1
CAPN5 calpain 5
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COX7B cytochrome c oxidase subunit VIIb
ERBB3 erb-b2 receptor tyrosine kinase 3
FKRP fukutin related protein
FKTN fukutin
FZD4 frizzled class receptor 4
HCCS holocytochrome c synthase
ISPD isoprenoid synthase domain containing
LARGE like-glycosyltransferase
LRP5 low density lipoprotein receptor-related protein 5
NDP Norrie disease (pseudoglioma)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PROC protein C (inactivator of coagulation factors Va and VIIIa)
RB1 retinoblastoma 1
TMEM5 transmembrane protein 5
TSPAN12 tetraspanin 12
TTR transthyretin