aplasia/hypoplasia of the lens Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the lens. (Human Phenotype Ontology, HP_0008063)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008063
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33 genes associated with the aplasia/hypoplasia of the lens phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ARL6 ADP-ribosylation factor-like 6
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BEST1 bestrophin 1
CEP290 centrosomal protein 290kDa
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
FBN1 fibrillin 1
FOXC1 forkhead box C1
FOXE3 forkhead box E3
HDAC9 histone deacetylase 9
HMX1 H6 family homeobox 1
IFT27 intraflagellar transport 27
LMX1B LIM homeobox transcription factor 1, beta
LTBP2 latent transforming growth factor beta binding protein 2
LZTFL1 leucine zipper transcription factor-like 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NDP Norrie disease (pseudoglioma)
OCRL oculocerebrorenal syndrome of Lowe
PAX6 paired box 6
PITX2 paired-like homeodomain 2
TGFB2 transforming growth factor, beta 2
TRIM32 tripartite motif containing 32
TTC8 tetratricopeptide repeat domain 8
WDPCP WD repeat containing planar cell polarity effector