| Symbol |
Name |
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
APOA1
|
apolipoprotein A-I
|
|
APRT
|
adenine phosphoribosyltransferase
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLDN19
|
claudin 19
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FGA
|
fibrinogen alpha chain
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXI1
|
forkhead box I1
|
|
GLA
|
galactosidase, alpha
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT80
|
intraflagellar transport 80
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LYZ
|
lysozyme
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MEFV
|
Mediterranean fever
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
UMOD
|
uromodulin
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR60
|
WD repeat domain 60
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WT1
|
Wilms tumor 1
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZNF423
|
zinc finger protein 423
|
