| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIRE
|
autoimmune regulator
|
|
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
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBX2
|
chromobox homolog 2
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DHH
|
desert hedgehog
|
|
DIAPH2
|
diaphanous-related formin 2
|
|
DMRT1
|
doublesex and mab-3 related transcription factor 1
|
|
DMRT2
|
doublesex and mab-3 related transcription factor 2
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ELN
|
elastin
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FIGLA
|
folliculogenesis specific basic helix-loop-helix
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXL2
|
forkhead box L2
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA4
|
GATA binding protein 4
|
|
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
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFT27
|
intraflagellar transport 27
|
|
INSR
|
insulin receptor
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
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
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MSX1
|
msh homeobox 1
|
|
NBN
|
nibrin
|
|
NOBOX
|
NOBOX oogenesis homeobox
|
|
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
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLG
|
plasminogen
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POF1B
|
premature ovarian failure, 1B
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PSMC3IP
|
PSMC3 interacting protein
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
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
|
|
STK11
|
serine/threonine kinase 11
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBL2
|
transducin (beta)-like 2
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
VAMP7
|
vesicle-associated membrane protein 7
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
