| Symbol |
Name |
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATM
|
ATM serine/threonine kinase
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBIP1
|
BBSome interacting protein 1
|
|
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
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBX2
|
chromobox homolog 2
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
DHH
|
desert hedgehog
|
|
DMRT1
|
doublesex and mab-3 related transcription factor 1
|
|
DMRT2
|
doublesex and mab-3 related transcription factor 2
|
|
ELN
|
elastin
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
GNAS
|
GNAS complex locus
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HNF1A
|
HNF1 homeobox A
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IFT27
|
intraflagellar transport 27
|
|
INSR
|
insulin receptor
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MSX1
|
msh homeobox 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLG
|
plasminogen
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PSMC3IP
|
PSMC3 interacting protein
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SRY
|
sex determining region Y
|
|
TBL2
|
transducin (beta)-like 2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
