ectopia lentis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. (Human Phenotype Ontology, HP_0001083)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001083
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Genes

30 genes associated with the ectopia lentis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AASS aminoadipate-semialdehyde synthase
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADAMTSL4 ADAMTS-like 4
ASPH aspartate beta-hydroxylase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BCOR BCL6 corepressor
C12ORF57 chromosome 12 open reading frame 57
CBS cystathionine-beta-synthase
CHRDL1 chordin-like 1
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
FBN1 fibrillin 1
FBN2 fibrillin 2
HSPG2 heparan sulfate proteoglycan 2
LTBP2 latent transforming growth factor beta binding protein 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
NDP Norrie disease (pseudoglioma)
P3H2 prolyl 3-hydroxylase 2
PAX2 paired box 2
PORCN porcupine homolog (Drosophila)
SUOX sulfite oxidase
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)