| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
CHN1
|
chimerin 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
FBN1
|
fibrillin 1
|
|
FOXC1
|
forkhead box C1
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GPR143
|
G protein-coupled receptor 143
|
|
HHAT
|
hedgehog acyltransferase
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
KRT71
|
keratin 71, type II
|
|
KRT74
|
keratin 74, type II
|
|
LIPH
|
lipase, member H
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MPZ
|
myelin protein zero
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RB1
|
retinoblastoma 1
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIX6
|
SIX homeobox 6
|
|
STIM1
|
stromal interaction molecule 1
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM67
|
transmembrane protein 67
|
