| Symbol |
Name |
|
ADAMTSL4
|
ADAMTS-like 4
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
BCOR
|
BCL6 corepressor
|
|
BEST1
|
bestrophin 1
|
|
CAPN5
|
calpain 5
|
|
CBS
|
cystathionine-beta-synthase
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
FBN1
|
fibrillin 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FZD4
|
frizzled class receptor 4
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
IGFBP7
|
insulin-like growth factor binding protein 7
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KIF11
|
kinesin family member 11
|
|
LARGE
|
like-glycosyltransferase
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
P3H2
|
prolyl 3-hydroxylase 2
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
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
|
|
PRDM5
|
PR domain containing 5
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAI1
|
retinoic acid induced 1
|
|
RS1
|
retinoschisin 1
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM5
|
transmembrane protein 5
|
|
TSPAN12
|
tetraspanin 12
|
|
VCAN
|
versican
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
YAP1
|
Yes-associated protein 1
|
|
ZNF469
|
zinc finger protein 469
|
