Ectopia Lentis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C1644196
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Genes

34 genes associated with the disease Ectopia Lentis in GWAS and other genetic association datasets from the DisGeNET 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
ADAMTSL2 ADAMTS-like 2
ADAMTSL4 ADAMTS-like 4
ASPH aspartate beta-hydroxylase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BCOR BCL6 corepressor
CBS cystathionine-beta-synthase
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
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8
EGF epidermal growth factor
EXOC6B exocyst complex component 6B
FBN1 fibrillin 1
FBN2 fibrillin 2
FOXE3 forkhead box E3
HSPG2 heparan sulfate proteoglycan 2
LTBP2 latent transforming growth factor beta binding protein 2
MOCS2 molybdenum cofactor synthesis 2
NDP Norrie disease (pseudoglioma)
NECTIN1 nectin cell adhesion molecule 1
OAF OAF homolog (Drosophila)
P3H2 prolyl 3-hydroxylase 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)
TGFB2 transforming growth factor, beta 2